Cldn14 MGI Mouse Gene Detail - MGI:1860425

Symbol

Cldn14
Name

claudin 14

Feature Type

protein coding gene
IDs

MGI:1860425
NCBI Gene: 56173
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr16:93715919-93809696 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 54.99 cM, cytoband C3-4
Mapping Data

4 experiments

SNPs within 2kb

2915 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1860425	protein coding gene	Chr16:93715919-93809733 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023066	protein coding gene	Chr16:95134379-95222573 (-)
A/J	MGP_AJ_G0023034	protein coding gene	Chr16:90666793-90753553 (-)
AKR/J	MGP_AKRJ_G0023004	protein coding gene	Chr16:93447774-93535963 (-)
BALB/cJ	MGP_BALBcJ_G0023036	protein coding gene	Chr16:91190311-91279015 (-)
C3H/HeJ	MGP_C3HHeJ_G0022797	protein coding gene	Chr16:93953226-94043978 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023483	protein coding gene	Chr16:98146263-98239398 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020985	protein coding gene	Chr16:88513992-88602415 (-)
CAST/EiJ	MGP_CASTEiJ_G0022316	protein coding gene	Chr16:94686667-94785470 (-)
CBA/J	MGP_CBAJ_G0022766	protein coding gene	Chr16:102405348-102504217 (-)
DBA/2J	MGP_DBA2J_G0022900	protein coding gene	Chr16:90554445-90642352 (-)
FVB/NJ	MGP_FVBNJ_G0022874	protein coding gene	Chr16:89710301-89800073 (-)
LP/J	MGP_LPJ_G0022970	protein coding gene	Chr16:94796134-94888899 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022895	protein coding gene	Chr16:106777391-106874203 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023501	protein coding gene	Chr16:93949330-94041919 (-)
PWK/PhJ	MGP_PWKPhJ_G0022061	protein coding gene	Chr16:90805328-90896129 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021891	protein coding gene	Chr16:93488177-93581970 (-)
WSB/EiJ	MGP_WSBEiJ_G0022367	protein coding gene	Chr16:94200430-94291948 (-)

Human Ortholog

CLDN14, claudin 14

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CLDN14, claudin 14
Synonyms

DFNB29
Links

HGNC:2035

NCBI Gene ID: 23562

neXtProt AC: NX_O95500

UniProt: O95500
Chr Location

21q22.13; chr21:36460621-36576569 (-) GRCh38

MGI Vertebrate Homology

Cldn14 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CLDN14
Gene Tree

Cldn14

Diseases

1 with Cldn14 mouse models; 1 with human CLDN14 associations

Human Disease

Mouse Models

autosomal recessive nonsyndromic deafness 29

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

7 with disease annotations

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Phenotype Summary

8 phenotypes from 1 allele in 1 genetic background
103 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

41
Endonuclease-mediated

3
Gene trapped

25
Spontaneous

1
Targeted

11
Genomic Mutations

11 involving Cldn14
Incidental Mutations

APF
Find Mice (IMSR)

73 strains or lines available

Homozygous mutant mice have a normal endocochlear potential but are deaf due to cochlear hair cell degeneration within the first 3 weeks of age.

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All GO Annotations

11
GO References

5

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	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	membraneless 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

778
Tissues

70
cDNA Data

10
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

53
RefSeq

10
UniProt

4
CCDS

CCDS28345.1

Ensembl

ENSMUSG00000047109 (Evidence)
NCBI Gene

56173

			Length	Strain/Species	Flank
genomic	ENSMUSG00000047109	Ensembl Gene Model \| MGI Sequence Detail	93778	C57BL/6J	± kb
transcript	ENSMUST00000169391	Ensembl \| MGI Sequence Detail	1456	Not Applicable
polypeptide	ENSMUSP00000126455	Ensembl \| MGI Sequence Detail	239	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000005541 claudin-14

(term hierarchy)
InterPro Domains

IPR006187 Claudin

IPR017974 Claudin, conserved site

IPR004031 PMP-22/EMP/MP20/Claudin

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All nucleic 15

Genomic 2

cDNA 10

Primer pair 3

Microarray probesets 3

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MGI:2146507

Summaries

All 136

Developmental Gene Expression 5

Diseases 7

Gene Ontology 5

Phenotypes 103
Earliest

J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
Latest

J:345472 Lana-Elola E, et al., Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome. Sci Transl Med. 2024 Jan 24;16(731):eadd6883

TSS for Cldn14:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr142215	Chr16:93768010-93768022 (-)	41,680 bp
Tssr142214	Chr16:93768000-93768006 (-)	41,693 bp
Tssr142213	Chr16:93767968-93767980 (-)	41,722 bp
Tssr142212	Chr16:93726400-93726416 (-)	83,288 bp
Tssr142211	Chr16:93726371-93726393 (-)	83,314 bp
Tssr142210	Chr16:93726352-93726363 (-)	83,338 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24