Cldn19 MGI Mouse Gene Detail - MGI:3033992

Symbol

Cldn19
Name

claudin 19

Feature Type

protein coding gene
IDs

MGI:3033992
NCBI Gene: 242653
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr4:119112638-119119635 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 55.34 cM
Mapping Data

1 experiment

SNPs within 2kb

317 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3033992	protein coding gene	Chr4:119112611-119119635 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028694	protein coding gene	Chr4:120439424-120446544 (+)
A/J	MGP_AJ_G0028654	protein coding gene	Chr4:115708897-115715858 (+)
AKR/J	MGP_AKRJ_G0028607	protein coding gene	Chr4:118219172-118226137 (+)
BALB/cJ	MGP_BALBcJ_G0028677	protein coding gene	Chr4:116326544-116333529 (+)
C3H/HeJ	MGP_C3HHeJ_G0028392	protein coding gene	Chr4:119784924-119791918 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029118	protein coding gene	Chr4:125009589-125016614 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026395	protein coding gene	Chr4:109810169-109817082 (+)
CAST/EiJ	MGP_CASTEiJ_G0027823	protein coding gene	Chr4:117108055-117115940 (+)
CBA/J	MGP_CBAJ_G0028359	protein coding gene	Chr4:128395836-128402817 (+)
DBA/2J	MGP_DBA2J_G0028506	protein coding gene	Chr4:116300928-116307887 (+)
FVB/NJ	MGP_FVBNJ_G0028472	protein coding gene	Chr4:114814426-114822282 (+)
LP/J	MGP_LPJ_G0028606	protein coding gene	Chr4:120557076-120564091 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028500	protein coding gene	Chr4:133263073-133270048 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029155	protein coding gene	Chr4:119293792-119300896 (+)
PWK/PhJ	MGP_PWKPhJ_G0027546	protein coding gene	Chr4:113222664-113229817 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027372	protein coding gene	Chr4:115716018-115722979 (+)
WSB/EiJ	MGP_WSBEiJ_G0027903	protein coding gene	Chr4:119296681-119303810 (+)

Human Ortholog

CLDN19, claudin 19

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CLDN19, claudin 19
Synonyms

HOMG5
Links

HGNC:2040

NCBI Gene ID: 149461

neXtProt AC: NX_Q8N6F1

UniProt: Q8N6F1
Chr Location

1p34.2

MGI Vertebrate Homology

Cldn19 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CLDN19
Gene Tree

Cldn19

Diseases

1 with human CLDN19 associations

				Human Disease	Mouse Models
				renal hypomagnesemia 5 with ocular involvement IDs renal hypomagnesemia 5 with ocular involvement DOID:0060881 MESH:C536148 OMIM:248190 ORDO:2196 UMLS_CUI:C2931121

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

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
1 images
15 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

9
Chemically induced (other)

2
Radiation induced

1
Targeted

6
Genomic Mutations

4 involving Cldn19
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit a peripheral neuropathy associated with significant behavioral abnormalities, a complete lack of tight junctions from myelinated Schwann cells, and abnormal nerve conduction parameters of peripheral myelinated fibers.

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All GO Annotations

49
GO References

12

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

752
Tissues

41
cDNA Data

8
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cldn19

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All Sequences

36
RefSeq

4
UniProt

2
CCDS

CCDS18577.1, CCDS18578.1

Ensembl

ENSMUSG00000066058 (Evidence)
NCBI Gene

242653

			Length	Strain/Species	Flank
genomic	242653	NCBI Gene Model \| MGI Sequence Detail	6998	C57BL/6J	± kb
transcript	NM_153105	RefSeq \| MGI Sequence Detail	4236	Not Specified
polypeptide	Q9ET38	UniProt \| EBI \| MGI Sequence Detail	224	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005546 claudin-19

(term hierarchy)
PDB

3X29
InterPro Domains

IPR006187 Claudin

IPR017974 Claudin, conserved site

IPR004031 PMP-22/EMP/MP20/Claudin

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All nucleic 9

cDNA 8

Primer pair 1

Microarray probesets 2

Summaries

All 48

Developmental Gene Expression 7

Gene Ontology 12

Phenotypes 15
Earliest

J:84714 Nishijima I, et al., Two new balancer chromosomes on mouse chromosome 4 to facilitate functional annotation of human chromosome 1p. Genesis. 2003 Jul;36(3):142-8
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Cldn19:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38727	Chr4:119112590-119112623 (+)	-31 bp
Tssr38728	Chr4:119112624-119112653 (+)	1 bp
Tssr38729	Chr4:119112662-119112690 (+)	38 bp
Tssr38730	Chr4:119112691-119112701 (+)	58 bp
Tssr38731	Chr4:119114609-119114625 (+)	1,979 bp
Tssr38732	Chr4:119119461-119119463 (+)	6,824 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 11/12/2024 MGI 6.24