Otog otogelin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otogprovided by MGI
Official Full Name: otogelinprovided by MGI
Primary source: MGI:MGI:1202064
See related: Ensembl:ENSMUSG00000009487 AllianceGenome:MGI:1202064
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: twt; Otgn; 4932420K09
Summary: Enables structural molecule activity. Acts upstream of or within several processes, including adult locomotory behavior; inner ear receptor cell stereocilium organization; and vibrational conductance of sound to the inner ear. Located in cytosol and extracellular matrix. Is expressed in inner ear. Used to study autosomal recessive nonsyndromic deafness 18B. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 18B. Orthologous to human OTOG (otogelin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.66 cM

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45890411..45960858)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (46240987..46311434)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.
Title: Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Spontaneous (5)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-L-arabinofuranosidase activity	IEA Inferred from Electronic Annotation more info
enables structural molecule activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in L-arabinose metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular component organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vibrational conductance of sound to the inner ear	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation 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

Names: twister

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.

mRNA and Protein(s)

NM_013624.2 → NP_038652.2 otogelin precursor

See identical proteins and their annotated locations for NP_038652.2

Status: VALIDATED

Source sequence(s)

AC020786, AC120135

Consensus CDS

CCDS52251.1

UniProtKB/Swiss-Prot

E9QMN3, G3UWC8, O55225, Q3TMP0

Related

ENSMUSP00000130949.2, ENSMUST00000164538.2

Conserved Domains (9) summary

smart00041
Location:2828 → 2910

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

smart00216
Location:964 → 1118

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1153 → 1227

C8; This domain contains 8 conserved cysteine residues

PHA03247
Location:1453 → 1968

PHA03247; large tegument protein UL36; Provisional

cl17735
Location:463 → 498

VWC; von Willebrand factor type C domain

pfam00094
Location:501 → 653

VWD; von Willebrand factor type D domain

pfam01826
Location:767 → 831

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:337 → 399

C8; C8 domain

cl23781
Location:1292 → 1383

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

45890411..45960858

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322025.1 → XP_017177514.1 otogelin isoform X1

Conserved Domains (9) summary

smart00041
Location:2834 → 2916

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

smart00216
Location:970 → 1124

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:1159 → 1233

C8; This domain contains 8 conserved cysteine residues

PHA03247
Location:1459 → 1974

PHA03247; large tegument protein UL36; Provisional

cl17735
Location:469 → 504

VWC; von Willebrand factor type C domain

pfam00094
Location:507 → 659

VWD; von Willebrand factor type D domain

pfam01826
Location:773 → 837

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:343 → 405

C8; C8 domain

cl23781
Location:1298 → 1389

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 ...