Gene

coch

ID

ZDB-GENE-030616-403

Name

coagulation factor C homolog, cochlin (Limulus polyphemus)

Symbol

coch Nomenclature History

Previous Names

si:dz234g15.4

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 9 and autosomal recessive nonsyndromic deafness 110. Orthologous to human COCH (cochlin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Leventea et al., 2021
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With coch Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 9	Alliance	Deafness, autosomal dominant 9	601369
autosomal recessive nonsyndromic deafness 110	Alliance	?Deafness, autosomal recessive 110	618094

Associated With coch Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002035	von Willebrand factor, type A
Domain	IPR004043	LCCL domain
Family	IPR050525	Extracellular Matrix Assembly and Organization
Homologous_superfamily	IPR036465	von Willebrand factor A-like domain superfamily
Homologous_superfamily	IPR036609	LCCL domain superfamily