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OTOGL otogelin like [ Homo sapiens (human) ]

Gene ID: 283310, updated on 23-Nov-2021

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
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Genomic context

See OTOGL in Genome Data Viewer
Location:
12q21.31
Exon count:
68
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (80099537..80380880)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80493317..80774660)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 38 Neighboring gene RNA, U7 small nuclear 106 pseudogene Neighboring gene ribosomal protein L26 pseudogene 32 Neighboring gene RN7SK pseudogene 261 Neighboring gene protein tyrosine phosphatase receptor type Q Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 776

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 Functions

What's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • FLJ90579, MGC119410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-L-arabinofuranosidase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in L-arabinose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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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_001368062.3NP_001354991.2  otogelin-like protein isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC078817, AC083812, AC092945
    Related
    ENSP00000496036.1, ENST00000646859.1
    Conserved Domains (7) summary
    smart00041
    Location:22322308
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:121268
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:16881757
    C8; This domain contains 8 conserved cysteine residues
    pfam08742
    Location:677741
    C8; C8 domain
    cd19941
    Location:745800
    TIL; trypsin inhibitor-like cysteine rich domain
    cl02516
    Location:9391049
    VWD; von Willebrand factor type D domain
    cl23781
    Location:12271314
    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. NM_001378609.3NP_001365538.2  otogelin-like protein isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC078817, AC083812, AC092945
    Related
    ENSP00000447211.2, ENST00000547103.7
    Conserved Domains (7) summary
    smart00041
    Location:22772353
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:121268
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:17331802
    C8; This domain contains 8 conserved cysteine residues
    pfam08742
    Location:677741
    C8; C8 domain
    cd19941
    Location:745800
    TIL; trypsin inhibitor-like cysteine rich domain
    cl02516
    Location:15261699
    VWD; von Willebrand factor type D domain
    cl23781
    Location:12721359
    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. NM_001378610.3NP_001365539.2  otogelin-like protein isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC078817, AC083812, AC092945
    Conserved Domains (7) summary
    smart00041
    Location:22772353
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:121268
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:17331802
    C8; This domain contains 8 conserved cysteine residues
    pfam08742
    Location:677741
    C8; C8 domain
    cd19941
    Location:745800
    TIL; trypsin inhibitor-like cysteine rich domain
    cl02516
    Location:15261699
    VWD; von Willebrand factor type D domain
    cl23781
    Location:12721359
    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. NM_173591.7NP_775862.4  otogelin-like protein isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC078817, AC083812, AC092945
    Conserved Domains (7) summary
    smart00041
    Location:22772353
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:121268
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:17331802
    C8; This domain contains 8 conserved cysteine residues
    pfam08742
    Location:677741
    C8; C8 domain
    cd19941
    Location:745800
    TIL; trypsin inhibitor-like cysteine rich domain
    cl02516
    Location:15261699
    VWD; von Willebrand factor type D domain
    cl23781
    Location:12721359
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    80099537..80380880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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_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 ...
  3. 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 ...
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