Details for: MYO7A

Gene ID: 4647

Symbol: MYO7A

Ensembl ID: ENSG00000137474

Description: myosin VIIA

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 19.5944
    Cell Significance Index: -4.9700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 5.1951
    Cell Significance Index: -4.9600
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 3.0092
    Cell Significance Index: 42.2700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.5984
    Cell Significance Index: 98.0000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.4006
    Cell Significance Index: 203.5900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.3804
    Cell Significance Index: 10.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.3646
    Cell Significance Index: 86.0100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 1.3349
    Cell Significance Index: -4.1000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.0645
    Cell Significance Index: 12.6900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.0189
    Cell Significance Index: -2.2300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8903
    Cell Significance Index: 23.8600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.8155
    Cell Significance Index: 6.6500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.7981
    Cell Significance Index: 11.4300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5643
    Cell Significance Index: 111.9900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5181
    Cell Significance Index: 98.6000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4520
    Cell Significance Index: 12.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3813
    Cell Significance Index: 37.7200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.3341
    Cell Significance Index: 5.3000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2926
    Cell Significance Index: 264.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2393
    Cell Significance Index: 450.6200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2367
    Cell Significance Index: 5.0400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.1953
    Cell Significance Index: 2.7800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1893
    Cell Significance Index: 30.7800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1671
    Cell Significance Index: 18.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1635
    Cell Significance Index: 103.8100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1463
    Cell Significance Index: 2.4700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1043
    Cell Significance Index: 6.2600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0932
    Cell Significance Index: 10.8600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0786
    Cell Significance Index: 5.4400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0568
    Cell Significance Index: 1.2300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0560
    Cell Significance Index: 2.5400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0441
    Cell Significance Index: 8.8500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0432
    Cell Significance Index: 1.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0385
    Cell Significance Index: 0.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0344
    Cell Significance Index: 0.9900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.0305
    Cell Significance Index: 0.3700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0269
    Cell Significance Index: 18.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0168
    Cell Significance Index: 0.5900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0072
    Cell Significance Index: 11.0500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0056
    Cell Significance Index: 2.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0055
    Cell Significance Index: 10.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0023
    Cell Significance Index: 0.3900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0021
    Cell Significance Index: -1.1400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0023
    Cell Significance Index: -0.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0037
    Cell Significance Index: -4.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0068
    Cell Significance Index: -5.1100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0072
    Cell Significance Index: -3.2500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0072
    Cell Significance Index: -5.2500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0073
    Cell Significance Index: -5.4400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0093
    Cell Significance Index: -5.2500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0107
    Cell Significance Index: -4.7200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0125
    Cell Significance Index: -0.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0130
    Cell Significance Index: -1.7900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0148
    Cell Significance Index: -2.6600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0153
    Cell Significance Index: -0.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0182
    Cell Significance Index: -5.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0204
    Cell Significance Index: -2.0800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0210
    Cell Significance Index: -0.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0226
    Cell Significance Index: -2.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0249
    Cell Significance Index: -2.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0262
    Cell Significance Index: -1.4700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0276
    Cell Significance Index: -2.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0279
    Cell Significance Index: -5.8700
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0299
    Cell Significance Index: -0.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0325
    Cell Significance Index: -4.0000
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.0335
    Cell Significance Index: -0.5100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0374
    Cell Significance Index: -3.8900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0382
    Cell Significance Index: -0.4000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0416
    Cell Significance Index: -5.3800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0436
    Cell Significance Index: -5.1400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0476
    Cell Significance Index: -1.5300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0497
    Cell Significance Index: -1.0300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0635
    Cell Significance Index: -2.9600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0640
    Cell Significance Index: -3.2300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0648
    Cell Significance Index: -4.8300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0667
    Cell Significance Index: -5.2800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0702
    Cell Significance Index: -4.7200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0736
    Cell Significance Index: -1.9700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0741
    Cell Significance Index: -2.0700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0792
    Cell Significance Index: -4.8700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0800
    Cell Significance Index: -4.2000
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0814
    Cell Significance Index: -0.8500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0862
    Cell Significance Index: -5.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0870
    Cell Significance Index: -4.5300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0894
    Cell Significance Index: -2.2300
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0930
    Cell Significance Index: -1.1500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0971
    Cell Significance Index: -1.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0971
    Cell Significance Index: -4.5700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1017
    Cell Significance Index: -1.7100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1045
    Cell Significance Index: -3.4200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1056
    Cell Significance Index: -3.7000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1091
    Cell Significance Index: -2.8700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1115
    Cell Significance Index: -4.9300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1118
    Cell Significance Index: -1.7300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1147
    Cell Significance Index: -2.1200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1310
    Cell Significance Index: -4.9600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1376
    Cell Significance Index: -5.0500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1385
    Cell Significance Index: -4.4100
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.1449
    Cell Significance Index: -1.3100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1548
    Cell Significance Index: -5.3800

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** UnMy VIIA is a type V myosin, characterized by its unique head structure, which consists of a long neck domain and a globular motor domain. The protein is composed of 1451 amino acids, with the MYO7A heavy chain being the larger subunit. UnMy VIIA is a heterotrimeric protein, consisting of two heavy chains (MYO7A) and one light chain (MYO7B). The protein exhibits a high degree of processivity, allowing it to perform multiple rounds of movement along actin filaments. UnMy VIIA is also known for its high affinity for actin and its ability to undergo ATP-dependent hydrolysis, which drives its movement. **Pathways and Functions** UnMy VIIA plays a critical role in various cellular processes, including: 1. **Actin Cytoskeleton Organization**: UnMy VIIA interacts with the actin cytoskeleton to regulate its organization and dynamics. 2. **Endocytosis**: UnMy VIIA is involved in the regulation of endocytosis, a process by which cells internalize external molecules. 3. **Sensory Perception**: UnMy VIIA plays a crucial role in the development and maintenance of sensory organs, including the cochlea and retina. 4. **Cell Adhesion**: UnMy VIIA interacts with the cytoskeleton to regulate cell adhesion and motility. 5. **Photoreceptor Development**: UnMy VIIA is essential for the development and maintenance of photoreceptors in the retina. **Clinical Significance** Mutations in the MYO7A gene have been associated with Usher syndrome, a genetic disorder characterized by: 1. **Progressive Hearing Loss**: Usher syndrome is characterized by progressive hearing loss, often beginning in childhood. 2. **Retinitis Pigmentosa**: The disorder is also associated with retinitis pigmentosa, a degenerative eye disorder that leads to vision loss. 3. **Cochlear Abnormalities**: Mutations in the MYO7A gene can also lead to abnormalities in the cochlea, including the formation of abnormal hair cells and the disruption of auditory signaling pathways. In conclusion, the MYO7A gene plays a critical role in various cellular processes, including actin cytoskeleton organization, endocytosis, and sensory perception. Mutations in this gene have been associated with Usher syndrome, a genetic disorder characterized by progressive hearing loss and retinitis pigmentosa. Further research on the mechanisms of unMy VIIA and its role in disease is essential for the development of novel therapeutic strategies for Usher syndrome and other related disorders.

Genular Protein ID: 3926313053

Symbol: MYO7A_HUMAN

Name: Unconventional myosin-VIIa

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8622919

Title: Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

PubMed ID: 8622919

DOI: 10.1073/pnas.93.8.3232

PubMed ID: 8884267

Title: Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B.

PubMed ID: 8884267

DOI: 10.1006/geno.1996.0489

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 8022818

Title: Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types.

PubMed ID: 8022818

DOI: 10.1073/pnas.91.14.6549

PubMed ID: 7972138

Title:

PubMed ID: 7972138

DOI: 10.1073/pnas.91.24.11767-c

PubMed ID: 7568224

Title: Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

PubMed ID: 7568224

DOI: 10.1073/pnas.92.21.9815

PubMed ID: 10737800

Title: Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.

PubMed ID: 10737800

DOI: 10.1073/pnas.97.7.3491

PubMed ID: 7870171

Title: Defective myosin VIIA gene responsible for Usher syndrome type 1B.

PubMed ID: 7870171

DOI: 10.1038/374060a0

PubMed ID: 9070921

Title: The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).

PubMed ID: 9070921

DOI: 10.1006/geno.1996.4545

PubMed ID: 8842737

Title: Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.

PubMed ID: 8842737

DOI: 10.1093/hmg/5.8.1171

PubMed ID: 11964381

Title: MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.

PubMed ID: 11964381

DOI: 10.1093/embo-reports/kvf090

PubMed ID: 19643958

Title: Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B.

PubMed ID: 19643958

DOI: 10.1167/iovs.09-4032

PubMed ID: 21687988

Title: Functional characterization of the human myosin-7a motor domain.

PubMed ID: 21687988

DOI: 10.1007/s00018-011-0749-8

PubMed ID: 21493626

Title: The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.

PubMed ID: 21493626

DOI: 10.1093/hmg/ddr155

PubMed ID: 21709241

Title: Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.

PubMed ID: 21709241

DOI: 10.1073/pnas.1104161108

PubMed ID: 23023331

Title: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

PubMed ID: 23023331

DOI: 10.1038/ng.2426

PubMed ID: 25122759

Title: Stable single alpha-helices are constant force springs in proteins.

PubMed ID: 25122759

DOI: 10.1074/jbc.m114.585679

PubMed ID: 27331610

Title: The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals.

PubMed ID: 27331610

DOI: 10.7554/elife.15258

PubMed ID: 32209652

Title: The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex.

PubMed ID: 32209652

DOI: 10.1074/jbc.ra120.012820

PubMed ID: 8900236

Title: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

PubMed ID: 8900236

PubMed ID: 9382091

Title: Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

PubMed ID: 9382091

DOI: 10.1086/514899

PubMed ID: 9002678

Title: Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

PubMed ID: 9002678

DOI: 10.1093/hmg/6.1.111

PubMed ID: 9171832

Title: Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.

PubMed ID: 9171832

DOI: 10.1038/ng0697-188

PubMed ID: 9171833

Title: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

PubMed ID: 9171833

DOI: 10.1038/ng0697-191

PubMed ID: 9354784

Title: Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

PubMed ID: 9354784

DOI: 10.1038/ng1197-268

PubMed ID: 9718356

Title: Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

PubMed ID: 9718356

DOI: 10.1086/302026

PubMed ID: 10364543

Title: Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

PubMed ID: 10364543

DOI: 10.1086/302438

PubMed ID: 10094549

Title: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PubMed ID: 10094549

DOI: 10.1002/(sici)1098-1004(1999)13:2<133::aid-humu5>3.0.co;2-u

PubMed ID: 10447383

Title: Identification of three novel mutations in the MYO7A gene.

PubMed ID: 10447383

DOI: 10.1002/(sici)1098-1004(1999)14:2<181::aid-humu11>3.0.co;2-3

PubMed ID: 10930322

Title: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

PubMed ID: 10930322

DOI: 10.1006/exer.2000.0863

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: 15221449

Title: Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

PubMed ID: 15221449

DOI: 10.1007/s00439-004-1137-3

PubMed ID: 15300860

Title: Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).

PubMed ID: 15300860

DOI: 10.1002/humu.9272

PubMed ID: 15121790

Title: Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation.

PubMed ID: 15121790

DOI: 10.1136/jmg.2003.013557

PubMed ID: 15660226

Title: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

PubMed ID: 15660226

DOI: 10.1007/s00439-004-1227-2

PubMed ID: 16679490

Title: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PubMed ID: 16679490

DOI: 10.1136/jmg.2006.041954

PubMed ID: 21901789

Title: Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

PubMed ID: 21901789

DOI: 10.1002/humu.21587

PubMed ID: 23559863

Title: Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

PubMed ID: 23559863

PubMed ID: 24831256

Title: Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

PubMed ID: 24831256

DOI: 10.1371/journal.pone.0097808

PubMed ID: 26720455

Title: Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

PubMed ID: 26720455

DOI: 10.1167/iovs.15-17473

PubMed ID: 25798947

Title: Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

PubMed ID: 25798947

DOI: 10.1371/journal.pone.0120584

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

PubMed ID: 28887846

Title: Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.

PubMed ID: 28887846

DOI: 10.1002/humu.23335

Sequence Information:

  • Length: 2215
  • Mass: 254390
  • Checksum: 9F921DB43FD9BE1E
  • Sequence:
  • MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP QNATHIKPMH 
    PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS ILVAVNPYQL LSIYSPEHIR 
    QYTNKKIGEM PPHIFAIADN CYFNMKRNSR DQCCIISGES GAGKTESTKL ILQFLAAISG 
    QHSWIEQQVL EATPILEAFG NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS 
    RVCRQALDER NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN 
    IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP SLATAASLLE 
    VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK GIYGRLFVWI VDKINAAIYK 
    PPSQDVKNSR RSIGLLDIFG FENFAVNSFE QLCINFANEH LQQFFVRHVF KLEQEEYDLE 
    SIDWLHIEFT DNQDALDMIA NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP 
    PKNNHETQFG INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG 
    AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH LCVRQLRYSG 
    MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD LRGTCQRMAE AVLGTHDDWQ 
    IGKTKIFLKD HHDMLLEVER DKAITDRVIL LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG 
    HNCRKNYGLM RLGFLRLQAL HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV 
    LTVQAYARGM IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER 
    LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL GTSGGLPGQE 
    GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK FAKFAATYFQ GTTTHSYTRR 
    PLKQPLLYHD DEGDQLAALA VWITILRFMG DLPEPKYHTA MSDGSEKIPV MTKIYETLGK 
    KTYKRELQAL QGEGEAQLPE GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN 
    SMLEDRPTSN LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG 
    CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ ATKSKKPIML 
    PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS LYIALFDKVS SLGSGSDHVM 
    DAISQCEQYA KEQGAQERNA PWRLFFRKEV FTPWHSPSED NVATNLIYQQ VVRGVKFGEY 
    RCEKEDDLAE LASQQYFVDY GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK 
    KGIYAQRRTD AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF 
    VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP AGPCSPCWSC 
    RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG LRKRSKYVVA LQDNPNPAGE 
    ESGFLSFAKG DLIILDHDTG EQVMNSGWAN GINERTKQRG DFPTDSVYVM PTVTMPPREI 
    VALVTMTPDQ RQDVVRLLQL RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG 
    KDRLWSHTRE PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF 
    EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL LPHVQRFLQS 
    RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT QIFHKVYFPD DTDEAFEVES 
    STKAKDFCQN IATRLLLKSS EGFSLFVKIA DKVLSVPEND FFFDFVRHLT DWIKKARPIK 
    DGIVPSLTYQ VFFMKKLWTT TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL 
    IYRVKFEEDK SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF 
    LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT THPFTKISNW 
    SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ MLTAMSKQRG SRSGK

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.