Format

Send to:

Choose Destination

OTOGL otogelin like [ Homo sapiens (human) ]

Gene ID: 283310, updated on 13-Feb-2019

Summary

Official Symbol
OTOGLprovided by HGNC
Official Full Name
otogelin likeprovided by HGNC
Primary source
HGNC:HGNC:26901
See related
Ensembl:ENSG00000165899 MIM:614925
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB84B; C12orf64
Summary
The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]
Expression
Biased expression in kidney (RPKM 2.9), heart (RPKM 0.7) and 3 other tissues See more
Orthologs

Genomic context

See OTOGL in Genome Data Viewer
Location:
12q21.31
Exon count:
65
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (80130377..80379090)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80583151..80772870)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 106 pseudogene Neighboring gene ribosomal protein L26 pseudogene 32 Neighboring gene RNA, 7SK small nuclear pseudogene 261 Neighboring gene protein tyrosine phosphatase receptor type Q Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1 Neighboring gene myogenic factor 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • FLJ90579, MGC119410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-L-arabinofuranosidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-arabinose metabolic process IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033008.1 RefSeqGene

    Range
    5001..174638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001368062.1NP_001354991.1  otogelin-like protein isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC078817, AC083812, AC092945
  2. NM_173591.3NP_775862.3  otogelin-like protein isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC078817, AC083812, AC092945
    UniProtKB/TrEMBL
    A0A0A0MSS2
    Related
    ENSP00000400895.2, ENST00000458043.6
    Conserved Domains (6) summary
    smart00041
    Location:22682344
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:112259
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:17241793
    C8; This domain contains 8 conserved cysteine residues
    pfam01826
    Location:736791
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:665732
    C8; C8 domain
    cl23781
    Location:12631324
    Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    80130377..80379090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268802.3XP_005268859.1  otogelin-like protein isoform X1

    Related
    ENSP00000496036.1, ENST00000646859.1
    Conserved Domains (6) summary
    smart00041
    Location:22852361
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:129276
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:17411810
    C8; This domain contains 8 conserved cysteine residues
    pfam01826
    Location:753808
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:682749
    C8; C8 domain
    cl23781
    Location:12801341
    Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...
  2. XM_011538191.1XP_011536493.1  otogelin-like protein isoform X2

    Conserved Domains (6) summary
    smart00041
    Location:22852361
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:129276
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:17411810
    C8; This domain contains 8 conserved cysteine residues
    pfam01826
    Location:753808
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:682749
    C8; C8 domain
    cl23781
    Location:12801341
    Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...
  3. XM_011538193.1XP_011536495.1  otogelin-like protein isoform X4

    Conserved Domains (6) summary
    smart00041
    Location:21632239
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:7154
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:16191688
    C8; This domain contains 8 conserved cysteine residues
    pfam01826
    Location:631686
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:560627
    C8; C8 domain
    cl23781
    Location:11581219
    Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...
  4. XM_011538192.2XP_011536494.1  otogelin-like protein isoform X3

    Conserved Domains (6) summary
    smart00041
    Location:22342310
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:78225
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:16901759
    C8; This domain contains 8 conserved cysteine residues
    pfam01826
    Location:702757
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:631698
    C8; C8 domain
    cl23781
    Location:12291290
    Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...
Support Center