OTOG otogelin [Homo sapiens (human)] - Gene

Summary

Official Symbol: OTOGprovided by HGNC
Official Full Name: otogelinprovided by HGNC
Primary source: HGNC:HGNC:8516
See related: Ensembl:ENSG00000188162 MIM:604487; AllianceGenome:HGNC:8516
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: OTGN; MLEMP; DFNB18B
Summary: The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (17547259..17646044)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (17644992..17743744)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (17568806..17667591)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.
Title: Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.
Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.
Title: Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.
A novel truncation mutation in OTOG gene is associated with prelingual mild hearing loss without vestibular dysfunction.
Title: A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.
Patients with OTOG 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.
study reports the identification of mutations in OTOG as a cause of moderate nonsyndromic hearing loss
Title: Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

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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 18B MedGen: C3554163 OMIM: 614945 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

D11S4043 (e-PCR)
- UniSTS:153870

D11S3021 (e-PCR)
- UniSTS:152125

D11S1032 (e-PCR)
- UniSTS:36937

D11S1122 (e-PCR)
- UniSTS:19061

D11S3582 (e-PCR)
- UniSTS:152821

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-L-arabinofuranosidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-arabinose metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
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

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_033191.2 RefSeqGene

Range

4887..103672

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001277269.2 → NP_001264198.1 otogelin isoform a precursor

See identical proteins and their annotated locations for NP_001264198.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC124799, KC877393

Consensus CDS

CCDS76390.1

UniProtKB/Swiss-Prot

A8MTX6, A8MUJ0, B7WPC4, Q6ZRI0

Related

ENSP00000382323.2, ENST00000399391.7

Conserved Domains (11) summary

smart00041
Location:2842 → 2924

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

smart00215
Location:476 → 511

VWC_out; von Willebrand factor (vWF) type C domain

smart00216
Location:503 → 668

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1166 → 1240

C8; This domain contains 8 conserved cysteine residues

PHA03247
Location:1476 → 2041

PHA03247; large tegument protein UL36; Provisional

cd19941
Location:780 → 844

TIL; trypsin inhibitor-like cysteine rich domain

pfam00094
Location:152 → 302

VWD; von Willebrand factor type D domain

pfam01826
Location:426 → 474

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:349 → 412

C8; C8 domain

cl21454
Location:2676 → 2736

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

cl23781
Location:1305 → 1396

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_001292063.2 → NP_001278992.1 otogelin isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses two alternate splice sites and includes an additional exon, which together result in an alternate in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AC124799, KC877393

Consensus CDS

CCDS59225.2

UniProtKB/TrEMBL

H9KVB3

Related

ENSP00000382329.2, ENST00000399397.6

Conserved Domains (11) summary

smart00041
Location:2830 → 2912

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

smart00215
Location:464 → 499

VWC_out; von Willebrand factor (vWF) type C domain

smart00216
Location:491 → 656

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1154 → 1228

C8; This domain contains 8 conserved cysteine residues

PHA03247
Location:1464 → 2029

PHA03247; large tegument protein UL36; Provisional

cd19941
Location:768 → 832

TIL; trypsin inhibitor-like cysteine rich domain

pfam00094
Location:140 → 290

VWD; von Willebrand factor type D domain

pfam01826
Location:414 → 462

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:337 → 400

C8; C8 domain

cl21454
Location:2664 → 2724

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

cl23781
Location:1293 → 1384

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

17547259..17646044

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

17644992..17743744

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_198497.1: Suppressed sequence

Description

NM_198497.1: This RefSeq was permanently suppressed because the transcript is partial and there is currently insufficient support for the full-length nature of this variant.