Coch MGI Mouse Gene Detail - MGI:1278313

Symbol

Coch
Name

cochlin
Synonyms

Coch-5B2, D12H14S564E

Feature Type

protein coding gene
IDs

MGI:1278313
NCBI Gene: 12810
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr12:51640124-51652554 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 22.11 cM
Mapping Data

4 experiments

SNPs within 2kb

141 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1278313	protein coding gene	Chr12:51640067-51652556 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019724	protein coding gene	Chr12:50392785-50405143 (+)
A/J	MGP_AJ_G0019686	protein coding gene	Chr12:48618583-48631010 (+)
AKR/J	MGP_AKRJ_G0019657	protein coding gene	Chr12:50074264-50086696 (+)
BALB/cJ	MGP_BALBcJ_G0019664	protein coding gene	Chr12:48898538-48910975 (+)
C3H/HeJ	MGP_C3HHeJ_G0019467	protein coding gene	Chr12:50182175-50194598 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020112	protein coding gene	Chr12:51960726-51973150 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017735	protein coding gene	Chr12:47011307-47023024 (+)
CAST/EiJ	MGP_CASTEiJ_G0019020	protein coding gene	Chr12:45210647-45274054 (+)
CBA/J	MGP_CBAJ_G0019439	protein coding gene	Chr12:53744997-53757429 (+)
DBA/2J	MGP_DBA2J_G0019553	protein coding gene	Chr12:48473080-48485507 (+)
FVB/NJ	MGP_FVBNJ_G0019542	protein coding gene	Chr12:47916562-47928991 (+)
LP/J	MGP_LPJ_G0019625	protein coding gene	Chr12:50430705-50443072 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019578	protein coding gene	Chr12:55358789-55371220 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020150	protein coding gene	Chr12:49569956-49582378 (+)
PWK/PhJ	MGP_PWKPhJ_G0018787	protein coding gene	Chr12:43049022-43061575 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018581	protein coding gene	Chr12:44158981-44220978 (+)
WSB/EiJ	MGP_WSBEiJ_G0019071	protein coding gene	Chr12:50049793-50062186 (+)

Human Ortholog

COCH, cochlin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COCH, cochlin
Synonyms

COCH5B2, COCH-5B2, DFNA9, DFNB110
Links

HGNC:2180

NCBI Gene ID: 1690

neXtProt AC: NX_O43405

UniProt: O43405
Chr Location

14q12; chr14:30874496-30890618 (+) GRCh38.p7

Alliance of Genome Resources

Coch stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COCH
Gene Tree

Coch

Diseases

1 with Coch mouse models; 2 with human COCH associations

Human Disease

Mouse Models

autosomal dominant nonsyndromic deafness 9

IDs

View 1 model

autosomal recessive nonsyndromic deafness 110

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

5 phenotypes from 3 alleles in 5 genetic backgrounds
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

6
Genomic Mutations

1 involving Coch
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available

Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype.

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All GO Annotations

9
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

813
Tissues

34
cDNA Data

15
Literature Summary

11

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA COCH

Xenbase coch

ZFIN coch

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Coch interacts with 153 markers (Mir9-1, Mir9-2, Mir9-3, ...) View All

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All Sequences

56
RefSeq

19
UniProt

2
CCDS

CCDS25901.1

Ensembl

ENSMUSG00000020953 (Evidence)
NCBI Gene

12810

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020953	Ensembl Gene Model \| MGI Sequence Detail	12431	C57BL/6J	± kb
transcript	ENSMUST00000164782	Ensembl \| MGI Sequence Detail	2681	Not Applicable
polypeptide	ENSMUSP00000128127	Ensembl \| MGI Sequence Detail	552	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005683 cochlin

(term hierarchy)
InterPro Domains

IPR004043 LCCL domain

IPR036609 LCCL domain superfamily

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A

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All nucleic 18

cDNA 16

Primer pair 1

Other 1

Microarray probesets 3

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MGI:2145007

Summaries

All 58

Developmental Gene Expression 11

Diseases 2

Gene Ontology 4

Phenotypes 16
Earliest

J:39118 Crozet F, et al., Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics. 1997 Mar 1;40(2):332-41
Latest

J:330827 Yoo D, et al., Little skate genome provides insights into genetic programs essential for limb-based locomotion. Elife. 2022 Oct 26;11:e78345

TSS for Coch:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113417	Chr12:51640098-51640140 (+)	-5 bp
Tssr113418	Chr12:51640148-51640164 (+)	32 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Copyright, and Privacy Statement Send questions and comments to User Support.	last database update 03/21/2023 MGI 6.22