Details for: COCH

Gene ID: 1690

Symbol: COCH

Ensembl ID: ENSG00000100473

Description: cochlin

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 77.7266
    Cell Significance Index: -12.0900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 50.1886
    Cell Significance Index: -12.7300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.3816
    Cell Significance Index: -12.8000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.4812
    Cell Significance Index: 153.9800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.3538
    Cell Significance Index: -7.3400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.3122
    Cell Significance Index: -13.0700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.2603
    Cell Significance Index: 123.4600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 2.3231
    Cell Significance Index: 15.7400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.1716
    Cell Significance Index: -6.6700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.7358
    Cell Significance Index: 38.0100
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.3374
    Cell Significance Index: 21.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.1919
    Cell Significance Index: 152.8000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.1279
    Cell Significance Index: 27.5200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.7592
    Cell Significance Index: 13.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6824
    Cell Significance Index: 129.8700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6195
    Cell Significance Index: 61.2900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6172
    Cell Significance Index: 7.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5818
    Cell Significance Index: 12.3900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5810
    Cell Significance Index: 32.6000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4329
    Cell Significance Index: 26.6100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.4022
    Cell Significance Index: 4.1900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3552
    Cell Significance Index: 24.5700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.3407
    Cell Significance Index: 8.1700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3400
    Cell Significance Index: 306.9600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3117
    Cell Significance Index: 111.8100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3085
    Cell Significance Index: 50.1800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.3025
    Cell Significance Index: 4.3400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2862
    Cell Significance Index: 5.9900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2707
    Cell Significance Index: 29.4500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2061
    Cell Significance Index: 5.7600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2051
    Cell Significance Index: 12.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1911
    Cell Significance Index: 37.9300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.1564
    Cell Significance Index: 1.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1517
    Cell Significance Index: 4.0500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1229
    Cell Significance Index: 3.5400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1181
    Cell Significance Index: 23.6900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1099
    Cell Significance Index: 1.5000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0795
    Cell Significance Index: 13.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0506
    Cell Significance Index: 95.3500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0481
    Cell Significance Index: 74.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0442
    Cell Significance Index: 81.4400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0282
    Cell Significance Index: 0.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0279
    Cell Significance Index: 19.3200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0261
    Cell Significance Index: 35.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0237
    Cell Significance Index: 2.7900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0232
    Cell Significance Index: 0.3900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0221
    Cell Significance Index: 12.0600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0149
    Cell Significance Index: 0.2900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0121
    Cell Significance Index: 0.7600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0040
    Cell Significance Index: 1.7800
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.0039
    Cell Significance Index: 0.0400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0033
    Cell Significance Index: 1.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0030
    Cell Significance Index: 0.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0005
    Cell Significance Index: -0.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0013
    Cell Significance Index: -0.8100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0138
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0151
    Cell Significance Index: -11.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0153
    Cell Significance Index: -2.7600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0157
    Cell Significance Index: -11.9000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0162
    Cell Significance Index: -11.8700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0163
    Cell Significance Index: -0.7400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0169
    Cell Significance Index: -0.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0175
    Cell Significance Index: -9.8800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0180
    Cell Significance Index: -0.2700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0207
    Cell Significance Index: -1.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0217
    Cell Significance Index: -13.5700
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0271
    Cell Significance Index: -0.1700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0272
    Cell Significance Index: -3.3400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0330
    Cell Significance Index: -4.7900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0354
    Cell Significance Index: -10.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0467
    Cell Significance Index: -6.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0563
    Cell Significance Index: -3.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0626
    Cell Significance Index: -13.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0670
    Cell Significance Index: -9.2000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0697
    Cell Significance Index: -7.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0752
    Cell Significance Index: -7.8300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0766
    Cell Significance Index: -5.7100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0784
    Cell Significance Index: -8.9800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0796
    Cell Significance Index: -5.6300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0882
    Cell Significance Index: -1.7700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0916
    Cell Significance Index: -2.2900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0937
    Cell Significance Index: -3.0000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0964
    Cell Significance Index: -3.3500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1027
    Cell Significance Index: -2.1300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1069
    Cell Significance Index: -8.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1114
    Cell Significance Index: -6.8300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1167
    Cell Significance Index: -2.9100
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.1254
    Cell Significance Index: -1.1400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1324
    Cell Significance Index: -0.8000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1409
    Cell Significance Index: -2.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1428
    Cell Significance Index: -3.6700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1452
    Cell Significance Index: -2.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1466
    Cell Significance Index: -4.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1471
    Cell Significance Index: -6.8600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1494
    Cell Significance Index: -3.1700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1530
    Cell Significance Index: -12.1200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1583
    Cell Significance Index: -3.1300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1625
    Cell Significance Index: -7.6400
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1629
    Cell Significance Index: -1.0600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1697
    Cell Significance Index: -2.8400

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:** Cochlin is a member of the collagen family, but unlike other collagen proteins, it lacks the typical triple-helical structure. Instead, it has a unique domain structure that allows it to interact with other proteins and regulate cellular processes. The COCH protein is highly expressed in cells that require structural integrity, such as skeletal muscle fibers, enterocytes, and neurons. Its expression is also observed in immune cells, including B cells and retinal ganglion cells, highlighting its potential role in immune function. **Pathways and Functions:** The COCH gene is involved in several cellular pathways, including: 1. **Regulation of Cell Shape:** COCH plays a crucial role in maintaining cell shape and morphology, particularly in cells that require structural integrity, such as skeletal muscle fibers and enterocytes. 2. **Protein Binding:** COCH interacts with various proteins, including collagen, laminin, and integrins, to regulate cellular processes such as adhesion, migration, and signaling. 3. **Sensory Perception of Sound:** COCH has been implicated in the sensory perception of sound, particularly in the auditory system. Mutations in the COCH gene have been associated with Usher syndrome, a disorder characterized by hearing loss and vision impairment. 4. **Extracellular Matrix:** COCH is a key component of the extracellular matrix, providing structural support and facilitating cell-cell interactions. **Clinical Significance:** The COCH gene has been associated with several disorders, including: 1. **Usher Syndrome:** Mutations in the COCH gene have been linked to Usher syndrome, a disorder characterized by hearing loss and vision impairment. 2. **Cochlear Abnormalities:** COCH mutations have been associated with cochlear abnormalities, including degeneration and atrophy. 3. **Neuropathy:** COCH has been implicated in neuropathy, particularly in patients with Usher syndrome. 4. **Immune System Disorders:** COCH expression has been observed in immune cells, suggesting its potential role in immune function and disorders, such as autoimmune diseases. In conclusion, the COCH gene plays a critical role in maintaining tissue structure and function, regulating cellular processes, and influencing sensory perception. Its association with various disorders highlights the importance of further research into the functions and mechanisms of COCH. As an expert immunologist, I believe that COCH has the potential to shed light on the complex relationships between the immune system and other cellular processes, ultimately leading to the development of novel therapeutic strategies for various diseases.

Genular Protein ID: 2832013901

Symbol: COCH_HUMAN

Name: Cochlin

UniProtKB Accession Codes:

O43405 A8K9K9 D3DS84 Q96IU6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 5 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 2 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9441737

Title: Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.

PubMed ID: 9441737

DOI: 10.1006/geno.1997.5067

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12843317

Title: Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.

PubMed ID: 12843317

DOI: 10.1136/jmg.40.7.479

PubMed ID: 17926100

Title: Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.

PubMed ID: 17926100

DOI: 10.1007/s10162-007-0099-2

PubMed ID: 21886777

Title: Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility.

PubMed ID: 21886777

DOI: 10.1371/journal.pone.0023070

PubMed ID: 11574466

Title: NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.

PubMed ID: 11574466

DOI: 10.1093/emboj/20.19.5347

PubMed ID: 9806553

Title: Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.

PubMed ID: 9806553

DOI: 10.1038/3118

PubMed ID: 9931344

Title: A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

PubMed ID: 9931344

DOI: 10.1093/hmg/8.2.361

PubMed ID: 10400989

Title: High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene.

PubMed ID: 10400989

DOI: 10.1093/hmg/8.8.1425

PubMed ID: 11295836

Title: Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.

PubMed ID: 11295836

DOI: 10.1002/humu.37

PubMed ID: 14512963

Title: Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.

PubMed ID: 14512963

DOI: 10.1038/sj.ejhg.5201043

PubMed ID: 12928864

Title: Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.

PubMed ID: 12928864

DOI: 10.1007/s00439-003-0992-7

PubMed ID: 16835921

Title: Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).

PubMed ID: 16835921

DOI: 10.1002/ajmg.a.31354

PubMed ID: 17561763

Title: Phenotype description of a novel DFNA9/COCH mutation, I109T.

PubMed ID: 17561763

DOI: 10.1177/000348940711600506

PubMed ID: 18312449

Title: Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

PubMed ID: 18312449

DOI: 10.1111/j.1399-0004.2008.00972.x

PubMed ID: 22610276

Title: A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

PubMed ID: 22610276

DOI: 10.1007/s00109-012-0911-2

PubMed ID: 22931125

Title: Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

PubMed ID: 22931125

DOI: 10.1111/cge.12006

PubMed ID: 23993205

Title: Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

PubMed ID: 23993205

DOI: 10.1016/j.ijporl.2013.07.031

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: 29449721

Title: Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

PubMed ID: 29449721

DOI: 10.1038/s41431-017-0066-2

Sequence Information:

  • Length: 550
  • Mass: 59483
  • Checksum: 74D7D51290098B30
  • Sequence:
    • MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS 
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSAS 
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR 
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG 
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS 
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK 
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS 
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD 
DVQGPAAAAH DAGITIFSVG VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG 
ICRDFLESQQ

Genular Protein ID: 1711900074

Symbol: A0A2U3TZE7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2U3TZE7

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 Gene3D 2 GeneTree 1 HGNC 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 4 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 2 SAM 2 SMART 2 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 615
  • Mass: 66300
  • Checksum: C247A1BE46E30DBA
  • Sequence:
    • MSAAWIPALG LGVCLLLLPG PAGSEGAGEW GSWGASRRSQ GLSTSGYKRD SDPAPWASAL 
PPEEEGAKVE PPRGAPALTP AADLLLLTCF SHAPIAITCF TRGLDIRKEK ADVLCPGGCP 
LEEFSVYGNI VYASVSSICG AAVHRGVISN SGGPVRVYSL PGRENYSSVD ANGIQSQMLS 
RWSASFTVTK GKSSTQEATG QAVSTAHPPT GKRLKKTPEK KTGNKDCKAD IAFLIDGSFN 
IGQRRFNLQK NFVGKVALML GIGTEGPHVG LVQASEHPKI EFYLKNFTSA KDVLFAIKEV 
GFRGGNSNTG KALKHTAQKF FTVDAGVRKG IPKVVVVFID GWPSDDIEEA GIVAREFGVN 
VFIVSVAKPI PEELGMVQDV TFVDKAVCRN NGFFSYHMPN WFGTTKYVKP LVQKLCTHEQ 
MMCSKTCYNS VNIAFLIDGS SSVGDSNFRL MLEFVSNIAK TFEISDIGAK IAAVQFTYDQ 
RTEFSFTDYS TKENVLAVIR NIRYMSGGTA TGDAISFTVR NVFGPIRESP NKNFLVIVTD 
GQSYDDVQGP AAAAHDAGIT IFSVGVAWAP LDDLKDMASK PKESHAFFTR EFTGLEPIVS 
DVIRGICRDF LESQQ

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.