Details for: USH2A

Gene ID: 7399

Symbol: USH2A

Ensembl ID: ENSG00000042781

Description: usherin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 13.9327
    Cell Significance Index: 195.6900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 9.3854
    Cell Significance Index: 111.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 5.7714
    Cell Significance Index: 363.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.4111
    Cell Significance Index: 77.2300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.2640
    Cell Significance Index: -4.9600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2032
    Cell Significance Index: 92.3300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4637
    Cell Significance Index: 75.4200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4485
    Cell Significance Index: 10.8700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4445
    Cell Significance Index: 89.1600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3432
    Cell Significance Index: 20.6100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2785
    Cell Significance Index: 27.5500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2784
    Cell Significance Index: 18.7200
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.2390
    Cell Significance Index: 3.6300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1908
    Cell Significance Index: 37.8600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1781
    Cell Significance Index: 33.8900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1727
    Cell Significance Index: 1.1700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1342
    Cell Significance Index: 3.8300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1153
    Cell Significance Index: 5.1000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0873
    Cell Significance Index: 1.8100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0801
    Cell Significance Index: 8.7200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0773
    Cell Significance Index: 4.3400
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0521
    Cell Significance Index: 0.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0497
    Cell Significance Index: 17.8300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0495
    Cell Significance Index: 34.2500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0364
    Cell Significance Index: 1.3800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0160
    Cell Significance Index: 30.1200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0138
    Cell Significance Index: 8.7400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0128
    Cell Significance Index: 1.8600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0122
    Cell Significance Index: 22.4300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0105
    Cell Significance Index: 0.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0086
    Cell Significance Index: 13.3100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0070
    Cell Significance Index: 0.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0037
    Cell Significance Index: 4.9700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0020
    Cell Significance Index: -0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0049
    Cell Significance Index: -3.6300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0070
    Cell Significance Index: -3.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0103
    Cell Significance Index: -4.6600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0104
    Cell Significance Index: -1.8800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0112
    Cell Significance Index: -0.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0120
    Cell Significance Index: -6.7500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0121
    Cell Significance Index: -0.3500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0133
    Cell Significance Index: -9.7800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0134
    Cell Significance Index: -0.9300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0155
    Cell Significance Index: -8.4800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0183
    Cell Significance Index: -11.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0228
    Cell Significance Index: -6.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0238
    Cell Significance Index: -1.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0272
    Cell Significance Index: -4.6400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0288
    Cell Significance Index: -0.6300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0295
    Cell Significance Index: -0.8200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0376
    Cell Significance Index: -7.9100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0413
    Cell Significance Index: -0.6100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0446
    Cell Significance Index: -0.8700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0597
    Cell Significance Index: -7.3400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0620
    Cell Significance Index: -8.5200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0759
    Cell Significance Index: -7.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0800
    Cell Significance Index: -9.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0810
    Cell Significance Index: -9.4400
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0815
    Cell Significance Index: -0.7800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0876
    Cell Significance Index: -1.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0957
    Cell Significance Index: -5.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1027
    Cell Significance Index: -10.4900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1037
    Cell Significance Index: -2.2000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1060
    Cell Significance Index: -1.7900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1149
    Cell Significance Index: -1.4500
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.1152
    Cell Significance Index: -1.2000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1176
    Cell Significance Index: -1.4300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1182
    Cell Significance Index: -3.7700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1210
    Cell Significance Index: -2.6500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1210
    Cell Significance Index: -3.1100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1230
    Cell Significance Index: -3.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1240
    Cell Significance Index: -2.6400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1243
    Cell Significance Index: -7.6200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1254
    Cell Significance Index: -1.0400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1276
    Cell Significance Index: -1.2100
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.1281
    Cell Significance Index: -1.6500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1292
    Cell Significance Index: -4.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1350
    Cell Significance Index: -4.7300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1404
    Cell Significance Index: -1.8000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1428
    Cell Significance Index: -7.5000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1486
    Cell Significance Index: -6.9300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1606
    Cell Significance Index: -8.3400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1654
    Cell Significance Index: -7.7800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1710
    Cell Significance Index: -6.0100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1810
    Cell Significance Index: -3.9100
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1989
    Cell Significance Index: -2.3200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2004
    Cell Significance Index: -5.0000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2052
    Cell Significance Index: -10.6900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2162
    Cell Significance Index: -4.3400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2165
    Cell Significance Index: -5.8000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2197
    Cell Significance Index: -2.7300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2281
    Cell Significance Index: -4.5100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.2301
    Cell Significance Index: -3.0700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2427
    Cell Significance Index: -6.4800
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: -0.2597
    Cell Significance Index: -3.1600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2598
    Cell Significance Index: -6.2300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2604
    Cell Significance Index: -3.6500
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.2618
    Cell Significance Index: -3.5300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2621
    Cell Significance Index: -5.4700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2746
    Cell Significance Index: -4.0500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The USH2A gene encodes for the usherin protein, a large transmembrane protein that localizes to the photoreceptor cells in the retina. This protein is essential for maintaining the structure and function of the photoreceptor cells, which are responsible for converting light into electrical signals that are transmitted to the brain. The usherin protein is composed of multiple domains, including the N-terminal extracellular domain, the transmembrane domain, and the C-terminal intracellular domain. These domains interact with various proteins and molecules to regulate photoreceptor function and integrity. **Pathways and Functions:** The USH2A gene is involved in several critical pathways that regulate photoreceptor cell function and maintenance. These pathways include: 1. **Apical plasma membrane**: The usherin protein plays a crucial role in maintaining the apical plasma membrane of photoreceptor cells, which is essential for the regulation of ion transport and phototransduction. 2. **Basement membrane**: The usherin protein interacts with the basement membrane, a layer of extracellular matrix that separates the photoreceptor cells from the surrounding tissue. This interaction is essential for maintaining the structural integrity of the photoreceptor cells. 3. **Ciliary basal body**: The usherin protein is localized to the ciliary basal body, a structure that is essential for the maintenance of photoreceptor cell polarity and function. 4. **Photoreceptor cell differentiation**: The usherin protein is involved in the differentiation of photoreceptor cells, which is a critical process for the development of the retina. 5. **Stereocilia maintenance**: The usherin protein is essential for maintaining the structure and function of stereocilia, which are hair-like structures on the surface of photoreceptor cells that are critical for sound detection. **Clinical Significance:** Mutations in the USH2A gene have been identified as the primary cause of Usher Syndrome 2A, a genetic disorder characterized by progressive hearing loss and visual impairment. Individuals with Usher Syndrome 2A often experience symptoms such as: * Progressive hearing loss, starting with a high-frequency loss * Visual impairment, which can progress to blindness * Balance and vestibular dysfunction * Cerebellar ataxia The USH2A gene is a critical component of the usherin protein, which plays a central role in maintaining photoreceptor cell function and integrity. Understanding the complexities of the USH2A pathway is essential for developing effective therapeutic strategies for individuals with Usher Syndrome 2A. As an expert immunologist, it is crucial to continue investigating the mechanisms of the USH2A pathway to develop novel treatments for this devastating disorder. **Conclusion:** The USH2A gene, also known as usherin, plays a critical role in maintaining photoreceptor cell function and integrity. Mutations in this gene have been identified as the primary cause of Usher Syndrome 2A, a genetic disorder characterized by progressive hearing loss and visual impairment. Understanding the complexities of the USH2A pathway is essential for developing effective therapeutic strategies for individuals with Usher Syndrome 2A. Further research is necessary to unravel the intricacies of the USH2A pathway and to develop novel treatments for this devastating disorder.

Genular Protein ID: 131526082

Symbol: USH2A_HUMAN

Name: Usherin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9624053

Title: Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

PubMed ID: 9624053

DOI: 10.1126/science.280.5370.1753

PubMed ID: 10729113

Title: Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PubMed ID: 10729113

DOI: 10.1086/302855

PubMed ID: 15015129

Title: Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

PubMed ID: 15015129

DOI: 10.1086/383096

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 11788194

Title: Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.

PubMed ID: 11788194

DOI: 10.1016/s0378-5955(01)00344-6

PubMed ID: 12433396

Title: Usherin expression is highly conserved in mouse and human tissues.

PubMed ID: 12433396

DOI: 10.1016/s0378-5955(02)00635-4

PubMed ID: 14676276

Title: A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure.

PubMed ID: 14676276

DOI: 10.1242/jcs.00850

PubMed ID: 16114888

Title: Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes.

PubMed ID: 16114888

DOI: 10.1021/bi050245u

PubMed ID: 16301217

Title: Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

PubMed ID: 16301217

DOI: 10.1093/hmg/ddi416

PubMed ID: 16301216

Title: Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

PubMed ID: 16301216

DOI: 10.1093/hmg/ddi417

PubMed ID: 16434480

Title: The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

PubMed ID: 16434480

DOI: 10.1093/hmg/ddi490

PubMed ID: 12786748

Title: The molecular genetics of Usher syndrome.

PubMed ID: 12786748

DOI: 10.1034/j.1399-0004.2003.00109.x

PubMed ID: 18826961

Title: Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

PubMed ID: 18826961

DOI: 10.1093/hmg/ddn312

PubMed ID: 20440071

Title: PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

PubMed ID: 20440071

DOI: 10.1172/jci39715

PubMed ID: 10775529

Title: Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PubMed ID: 10775529

DOI: 10.1086/302926

PubMed ID: 10909849

Title: Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PubMed ID: 10909849

DOI: 10.1038/sj.ejhg.5200491

PubMed ID: 10738000

Title: Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

PubMed ID: 10738000

DOI: 10.1002/(sici)1098-1004(200004)15:4<388::aid-humu27>3.0.co;2-n

PubMed ID: 11311042

Title: Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PubMed ID: 11311042

DOI: 10.1006/exer.2000.0978

PubMed ID: 12427073

Title: Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

PubMed ID: 12427073

DOI: 10.1001/archopht.120.11.1566

PubMed ID: 12112664

Title: Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

PubMed ID: 12112664

DOI: 10.1002/humu.9042

PubMed ID: 12525556

Title: Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

PubMed ID: 12525556

DOI: 10.1136/jmg.40.1.e8

PubMed ID: 15025721

Title: Mutational spectrum in Usher syndrome type II.

PubMed ID: 15025721

DOI: 10.1046/j.1399-0004.2004.00216.x

PubMed ID: 14970843

Title: Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

PubMed ID: 14970843

DOI: 10.1038/sj.ejhg.5201138

PubMed ID: 15325563

Title: Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PubMed ID: 15325563

DOI: 10.1016/j.exer.2004.03.005

PubMed ID: 15241801

Title: USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

PubMed ID: 15241801

DOI: 10.1002/humu.9259

PubMed ID: 16098008

Title: Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation.

PubMed ID: 16098008

DOI: 10.1111/j.1399-0004.2005.00481.x

PubMed ID: 17085681

Title: Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

PubMed ID: 17085681

DOI: 10.1136/jmg.2006.041764

PubMed ID: 17296898

Title: Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

PubMed ID: 17296898

DOI: 10.1001/archopht.125.2.219

PubMed ID: 17405132

Title: Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

PubMed ID: 17405132

DOI: 10.1002/humu.20513

PubMed ID: 18452394

Title: Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

PubMed ID: 18452394

DOI: 10.1089/gte.2007.0107

PubMed ID: 18273898

Title: Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PubMed ID: 18273898

DOI: 10.1002/humu.9524

PubMed ID: 19737284

Title: Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

PubMed ID: 19737284

DOI: 10.1111/j.1399-0004.2009.01257.x

PubMed ID: 19683999

Title: Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

PubMed ID: 19683999

DOI: 10.1167/iovs.09-4085

PubMed ID: 20507924

Title: Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PubMed ID: 20507924

DOI: 10.1136/jmg.2009.075143

PubMed ID: 20309401

Title: Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

PubMed ID: 20309401

DOI: 10.1167/3.9.454

PubMed ID: 21835308

Title: Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

PubMed ID: 21835308

DOI: 10.1016/j.ajhg.2011.07.012

PubMed ID: 21593743

Title: Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PubMed ID: 21593743

DOI: 10.1038/jhg.2011.45

PubMed ID: 21686329

Title: Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

PubMed ID: 21686329

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

PubMed ID: 22004887

Title: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

PubMed ID: 22004887

DOI: 10.1186/1750-1172-6-65

PubMed ID: 22334370

Title: Next-generation genetic testing for retinitis pigmentosa.

PubMed ID: 22334370

DOI: 10.1002/humu.22045

PubMed ID: 24227914

Title: Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

PubMed ID: 24227914

PubMed ID: 23737954

Title: Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PubMed ID: 23737954

DOI: 10.1371/journal.pone.0063832

PubMed ID: 25388789

Title: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PubMed ID: 25388789

DOI: 10.1186/s12967-014-0311-1

PubMed ID: 26377068

Title: Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.

PubMed ID: 26377068

DOI: 10.1186/s12881-015-0223-9

PubMed ID: 28281779

Title: Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

PubMed ID: 28281779

DOI: 10.1089/gtmb.2016.0328

Sequence Information:

  • Length: 5202
  • Mass: 575600
  • Checksum: 06A123CA9C0F7F1D
  • Sequence:
  • MNCPVLSLGS GFLFQVIEML IFAYFASISL TESRGLFPRL ENVGAFKKVS IVPTQAVCGL 
    PDRSTFCHSS AAAESIQFCT QRFCIQDCPY RSSHPTYTAL FSAGLSSCIT PDKNDLHPNA 
    HSNSASFIFG NHKSCFSSPP SPKLMASFTL AVWLKPEQQG VMCVIEKTVD GQIVFKLTIS 
    EKETMFYYRT VNGLQPPIKV MTLGRILVKK WIHLSVQVHQ TKISFFINGV EKDHTPFNAR 
    TLSGSITDFA SGTVQIGQSL NGLEQFVGRM QDFRLYQVAL TNREILEVFS GDLLRLHAQS 
    HCRCPGSHPR VHPLAQRYCI PNDAGDTADN RVSRLNPEAH PLSFVNDNDV GTSWVSNVFT 
    NITQLNQGVT ISVDLENGQY QVFYIIIQFF SPQPTEIRIQ RKKENSLDWE DWQYFARNCG 
    AFGMKNNGDL EKPDSVNCLQ LSNFTPYSRG NVTFSILTPG PNYRPGYNNF YNTPSLQEFV 
    KATQIRFHFH GQYYTTETAV NLRHRYYAVD EITISGRCQC HGHADNCDTT SQPYRCLCSQ 
    ESFTEGLHCD RCLPLYNDKP FRQGDQVYAF NCKPCQCNSH SKSCHYNISV DPFPFEHFRG 
    GGGVCDDCEH NTTGRNCELC KDYFFRQVGA DPSAIDVCKP CDCDTVGTRN GSILCDQIGG 
    QCNCKRHVSG RQCNQCQNGF YNLQELDPDG CSPCNCNTSG TVDGDITCHQ NSGQCKCKAN 
    VIGLRCDHCN FGFKFLRSFN DVGCEPCQCN LHGSVNKFCN PHSGQCECKK EAKGLQCDTC 
    RENFYGLDVT NCKACDCDTA GSLPGTVCNA KTGQCICKPN VEGRQCNKCL EGNFYLRQNN 
    SFLCLPCNCD KTGTINGSLL CNKSTGQCPC KLGVTGLRCN QCEPHRYNLT IDNFQHCQMC 
    ECDSLGTLPG TICDPISGQC LCVPNRQGRR CNQCQPGFYI SPGNATGCLP CSCHTTGAVN 
    HICNSLTGQC VCQDASIAGQ RCDQCKDHYF GFDPQTGRCQ PCNCHLSGAL NETCHLVTGQ 
    CFCKQFVTGS KCDACVPSAS HLDVNNLLGC SKTPFQQPPP RGQVQSSSAI NLSWSPPDSP 
    NAHWLTYSLL RDGFEIYTTE DQYPYSIQYF LDTDLLPYTK YSYYIETTNV HGSTRSVAVT 
    YKTKPGVPEG NLTLSYIIPI GSDSVTLTWT TLSNQSGPIE KYILSCAPLA GGQPCVSYEG 
    HETSATIWNL VPFAKYDFSV QACTSGGCLH SLPITVTTAQ APPQRLSPPK MQKISSTELH 
    VEWSPPAELN GIIIRYELYM RRLRSTKETT SEESRVFQSS GWLSPHSFVE SANENALKPP 
    QTMTTITGLE PYTKYEFRVL AVNMAGSVSS AWVSERTGES APVFMIPPSV FPLSSYSLNI 
    SWEKPADNVT RGKVVGYDIN MLSEQSPQQS IPMAFSQLLH TAKSQELSYT VEGLKPYRIY 
    EFTITLCNSV GCVTSASGAG QTLAAAPAQL RPPLVKGINS TTIHLRWFPP EELNGPSPIY 
    QLERRESSLP ALMTTMMKGI RFIGNGYCKF PSSTHPVNTD FTGIKASFRT KVPEGLIVFA 
    ASPGNQEEYF ALQLKKGRLY FLFDPQGSPV EVTTTNDHGK QYSDGKWHEI IAIRHQAFGQ 
    ITLDGIYTGS SAILNGSTVI GDNTGVFLGG LPRSYTILRK DPEIIQKGFV GCLKDVHFMK 
    NYNPSAIWEP LDWQSSEEQI NVYNSWEGCP ASLNEGAQFL GAGFLELHPY MFHGGMNFEI 
    SFKFRTDQLN GLLLFVYNKD GPDFLAMELK SGILTFRLNT SLAFTQVDLL LGLSYCNGKW 
    NKVIIKKEGS FISASVNGLM KHASESGDQP LVVNSPVYVG GIPQELLNSY QHLCLEQGFG 
    GCMKDVKFTR GAVVNLASVS SGAVRVNLDG CLSTDSAVNC RGNDSILVYQ GKEQSVYEGG 
    LQPFTEYLYR VIASHEGGSV YSDWSRGRTT GAAPQSVPTP SRVRSLNGYS IEVTWDEPVV 
    RGVIEKYILK AYSEDSTRPP RMPSASAEFV NTSNLTGILT GLLPFKNYAV TLTACTLAGC 
    TESSHALNIS TPQEAPQEVQ PPVAKSLPSS LLLSWNPPKK ANGIITQYCL YMDGRLIYSG 
    SEENYIVTDL AVFTPHQFLL SACTHVGCTN SSWVLLYTAQ LPPEHVDSPV LTVLDSRTIH 
    IQWKQPRKIS GILERYVLYM SNHTHDFTIW SVIYNSTELF QDHMLQYVLP GNKYLIKLGA 
    CTGGGCTVSE ASEALTDEDI PEGVPAPKAH SYSPDSFNVS WTEPEYPNGV ITSYGLYLDG 
    ILIHNSSELS YRAYGFAPWS LHSFRVQACT AKGCALGPLV ENRTLEAPPE GTVNVFVKTQ 
    GSRKAHVRWE APFRPNGLLT HSVLFTGIFY VDPVGNNYTL LNVTKVMYSG EETNLWVLID 
    GLVPFTNYTV QVNISNSQGS LITDPITIAM PPGAPDGVLP PRLSSATPTS LQVVWSTPAR 
    NNAPGSPRYQ LQMRSGDSTH GFLELFSNPS ASLSYEVSDL QPYTEYMFRL VASNGFGSAH 
    SSWIPFMTAE DKPGPVVPPI LLDVKSRMML VTWQHPRKSN GVITHYNIYL HGRLYLRTPG 
    NVTNCTVMHL HPYTAYKFQV EACTSKGCSL SPESQTVWTL PGAPEGIPSP ELFSDTPTSV 
    IISWQPPTHP NGLVENFTIE RRVKGKEEVT TLVTLPRSHS MRFIDKTSAL SPWTKYEYRV 
    LMSTLHGGTN SSAWVEVTTR PSRPAGVQPP VVTVLEPDAV QVTWKPPLIQ NGDILSYEIH 
    MPDPHITLTN VTSAVLSQKV THLIPFTNYS VTIVACSGGN GYLGGCTESL PTYVTTHPTV 
    PQNVGPLSVI PLSESYVVIS WQPPSKPNGP NLRYELLRRK IQQPLASNPP EDLNRWHNIY 
    SGTQWLYEDK GLSRFTTYEY MLFVHNSVGF TPSREVTVTT LAGLPERGAN LTASVLNHTA 
    IDVRWAKPTV QDLQGEVEYY TLFWSSATSN DSLKILPDVN SHVIGHLKPN TEYWIFISVF 
    NGVHSINSAG LHATTCDGEP QGMLPPEVVI INSTAVRVIW TSPSNPNGVV TEYSIYVNNK 
    LYKTGMNVPG SFILRDLSPF TIYDIQVEVC TIYACVKSNG TQITTVEDTP SDIPTPTIRG 
    ITSRSLQIDW VSPRKPNGII LGYDLLWKTW YPCAKTQKLV QDQSDELCKA VRCQKPESIC 
    GHICYSSEAK VCCNGVLYNP KPGHRCCEEK YIPFVLNSTG VCCGGRIQEA QPNHQCCSGY 
    YARILPGEVC CPDEQHNRVS VGIGDSCCGR MPYSTSGNQI CCAGRLHDGH GQKCCGRQIV 
    SNDLECCGGE EGVVYNRLPG MFCCGQDYVN MSDTICCSAS SGESKAHIKK NDPVPVKCCE 
    TELIPKSQKC CNGVGYNPLK YVCSDKISTG MMMKETKECR ILCPASMEAT EHCGRCDFNF 
    TSHICTVIRG SHNSTGKASI EEMCSSAEET IHTGSVNTYS YTDVNLKPYM TYEYRISAWN 
    SYGRGLSKAV RARTKEDVPQ GVSPPTWTKI DNLEDTIVLN WRKPIQSNGP IIYYILLRNG 
    IERFRGTSLS FSDKEGIQPF QEYSYQLKAC TVAGCATSSK VVAATTQGVP ESILPPSITA 
    LSAVALHLSW SVPEKSNGVI KEYQIRQVGK GLIHTDTTDR RQHTVTGLQP YTNYSFTLTA 
    CTSAGCTSSE PFLGQTLQAA PEGVWVTPRH IIINSTTVEL YWSLPEKPNG LVSQYQLSRN 
    GNLLFLGGSE EQNFTDKNLE PNSRYTYKLE VKTGGGSSAS DDYIVQTPMS TPEEIYPPYN 
    ITVIGPYSIF VAWIPPGILI PEIPVEYNVL LNDGSVTPLA FSVGHHQSTL LENLTPFTQY 
    EIRIQACQNG SCGVSSRMFV KTPEAAPMDL NSPVLKALGS ACIEIKWMPP EKPNGIIINY 
    FIYRRPAGIE EESVLFVWSE GALEFMDEGD TLRPFTLYEY RVRACNSKGS VESLWSLTQT 
    LEAPPQDFPA PWAQATSAHS VLLNWTKPES PNGIISHYRV VYQERPDDPT FNSPTVHAFT 
    VKGTSHQAHL YGLEPFTTYR IGVVAANHAG EILSPWTLIQ TLESSPSGLR NFIVEQKENG 
    RALLLQWSEP MRTNGVIKTY NIFSDGFLEY SGLNRQFLFR RLDPFTLYTL TLEACTRAGC 
    AHSAPQPLWT DEAPPDSQLA PTVHSVKSTS VELSWSEPVN PNGKIIRYEV IRRCFEGKAW 
    GNQTIQADEK IVFTEYNTER NTFMYNDTGL QPWTQCEYKI YTWNSAGHTC SSWNVVRTLQ 
    APPEGLSPPV ISYVSMNPQK LLISWIPPEQ SNGIIQSYRL QRNEMLYPFS FDPVTFNYTD 
    EELLPFSTYS YALQACTSGG CSTSKPTSIT TLEAAPSEVS PPDLWAVSAT QMNVCWSPPT 
    VQNGKITKYL VRYDNKESLA GQGLCLLVSH LQPYSQYNFS LVACTNGGCT ASVSKSAWTM 
    EALPENMDSP TLQVTGSESI EITWKPPRNP NGQIRSYELR RDGTIVYTGL ETRYRDFTLT 
    PGVEYSYTVT ASNSQGGILS PLVKDRTSPS APSGMEPPKL QARGPQEILV NWDPPVRTNG 
    DIINYTLFIR ELFERETKII HINTTHNSFG MQSYIVNQLK PFHRYEIRIQ ACTTLGCASS 
    DWTFIQTPEI APLMQPPPHL EVQMAPGGFQ PTVSLLWTGP LQPNGKVLYY ELYRRQIATQ 
    PRKSNPVLIY NGSSTSFIDS ELLPFTEYEY QVWAVNSAGK APSSWTWCRT GPAPPEGLRA 
    PTFHVISSTQ AVVNISAPGK PNGIVSLYRL FSSSAHGAET VLSEGMATQQ TLHGLQAFTN 
    YSIGVEACTC FNCCSKGPTA ELRTHPAPPS GLSSPQIGTL ASRTASFRWS PPMFPNGVIH 
    SYELQFHVAC PPDSALPCTP SQIETKYTGL GQKASLGGLQ PYTTYKLRVV AHNEVGSTAS 
    EWISFTTQKE LPQYRAPFSV DSNLSVVCVN WSDTFLLNGQ LKEYVLTDGG RRVYSGLDTT 
    LYIPRTADKT FFFQVICTTD EGSVKTPLIQ YDTSTGLGLV LTTPGKKKGS RSKSTEFYSE 
    LWFIVLMAML GLILLAIFLS LILQRKIHKE PYIRERPPLV PLQKRMSPLN VYPPGENHMG 
    LADTKIPRSG TPVSIRSNRS ACVLRIPSQN QTSLTYSQGS LHRSVSQLMD IQDKKVLMDN 
    SLWEAIMGHN SGLYVDEEDL MNAIKDFSSV TKERTTFTDT HL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.