OTOGL otogelin like [Homo sapiens (human)] - Gene

Summary

Official Symbol: OTOGLprovided by HGNC
Official Full Name: otogelin likeprovided by HGNC
Primary source: HGNC:HGNC:26901
See related: Ensembl:ENSG00000165899 MIM:614925; AllianceGenome:HGNC:26901
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: mouse all
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Genomic context

Location:: 12q21.31

Exon count:: 68

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (80099537..80380880)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (80078300..80359482)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (80493317..80774660)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
Title: [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
We identified novel biallelic OTOGL mutations in a Chinese autosomal recessive non-syndromic hearing loss family.
Title: Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.
Patients with OTOGL mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present.
Title: Similar phenotypes caused by mutations in OTOG and OTOGL.
OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.
Title: Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 84B MedGen: C3554159 OMIM: 614944 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1038 (e-PCR)
- UniSTS:34370

SHGC-83950 (e-PCR)
- UniSTS:103623

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 inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in vibrational conductance of sound to the inner ear	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
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: otogelin-like protein

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

NG_033008.2 RefSeqGene

Range

5002..286345

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001368062.3 → NP_001354991.2 otogelin-like protein isoform 2

Status: REVIEWED

Source sequence(s)

AC078817, AC083812, AC092945

Consensus CDS

CCDS91731.1

UniProtKB/TrEMBL

A0A2R8YF04

Related

ENSP00000496036.1, ENST00000646859.1

Conserved Domains (7) summary

smart00041
Location:2232 → 2308

CT; C-terminal cystine knot-like domain (CTCK)

smart00216
Location:121 → 268

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1688 → 1757

C8; This domain contains 8 conserved cysteine residues

pfam08742
Location:677 → 741

C8; C8 domain

cd19941
Location:745 → 800

TIL; trypsin inhibitor-like cysteine rich domain

cl02516
Location:939 → 1049

VWD; von Willebrand factor type D domain

cl23781
Location:1227 → 1314

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 ...
NM_001378609.3 → NP_001365538.2 otogelin-like protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC078817, AC083812, AC092945

Consensus CDS

CCDS91730.1

UniProtKB/Swiss-Prot

F8W0C3, Q3ZCN5, Q495U8, Q8N8G5, Q8NC28

Related

ENSP00000447211.2, ENST00000547103.7

Conserved Domains (7) summary

smart00041
Location:2277 → 2353

CT; C-terminal cystine knot-like domain (CTCK)

smart00216
Location:121 → 268

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1733 → 1802

C8; This domain contains 8 conserved cysteine residues

pfam08742
Location:677 → 741

C8; C8 domain

cd19941
Location:745 → 800

TIL; trypsin inhibitor-like cysteine rich domain

cl02516
Location:1526 → 1699

VWD; von Willebrand factor type D domain

cl23781
Location:1272 → 1359

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 ...
NM_001378610.3 → NP_001365539.2 otogelin-like protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC078817, AC083812, AC092945

Consensus CDS

CCDS91730.1

UniProtKB/Swiss-Prot

F8W0C3, Q3ZCN5, Q495U8, Q8N8G5, Q8NC28

Conserved Domains (7) summary

smart00041
Location:2277 → 2353

CT; C-terminal cystine knot-like domain (CTCK)

smart00216
Location:121 → 268

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1733 → 1802

C8; This domain contains 8 conserved cysteine residues

pfam08742
Location:677 → 741

C8; C8 domain

cd19941
Location:745 → 800

TIL; trypsin inhibitor-like cysteine rich domain

cl02516
Location:1526 → 1699

VWD; von Willebrand factor type D domain

cl23781
Location:1272 → 1359

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 ...
NM_173591.7 → NP_775862.4 otogelin-like protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC078817, AC083812, AC092945

Consensus CDS

CCDS91730.1

UniProtKB/Swiss-Prot

F8W0C3, Q3ZCN5, Q495U8, Q8N8G5, Q8NC28

Conserved Domains (7) summary

smart00041
Location:2277 → 2353

CT; C-terminal cystine knot-like domain (CTCK)

smart00216
Location:121 → 268

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1733 → 1802

C8; This domain contains 8 conserved cysteine residues

pfam08742
Location:677 → 741

C8; C8 domain

cd19941
Location:745 → 800

TIL; trypsin inhibitor-like cysteine rich domain

cl02516
Location:1526 → 1699

VWD; von Willebrand factor type D domain

cl23781
Location:1272 → 1359

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

80099537..80380880

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005268802.4 → XP_005268859.1 otogelin-like protein isoform X1

Conserved Domains (6) summary

smart00041
Location:2285 → 2361

CT; C-terminal cystine knot-like domain (CTCK)

smart00216
Location:129 → 276

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1741 → 1810

C8; This domain contains 8 conserved cysteine residues

pfam01826
Location:753 → 808

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:682 → 749

C8; C8 domain

cl23781
Location:1280 → 1341

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 ...
XM_011538193.2 → XP_011536495.2 otogelin-like protein isoform X2
XM_011538192.3 → XP_011536494.1 otogelin-like protein isoform X3

Conserved Domains (6) summary

smart00041
Location:2234 → 2310

CT; C-terminal cystine knot-like domain (CTCK)

smart00216
Location:78 → 225

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1690 → 1759

C8; This domain contains 8 conserved cysteine residues

pfam01826
Location:702 → 757

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:631 → 698

C8; C8 domain

cl23781
Location:1229 → 1290

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 ...