CLDN19

GENE INFORMATION

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Gene name

CLDN19

Synonyms

Description

claudin 19 (HGNC Symbol)

Entrez gene summary

The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]

Chromosome

1 (Chromosome progress)

Cytoband

p34.2

Chromosome location (bp)

43198764 - 43205925

Ensembl

ENSG00000164007 (version 73.37)

Entrez gene

149461

UniProt

Q8N6F1 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N6F1

Antibodypedia

CLDN19 antibodies
 

PROTEIN VIEW

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CLDN19-001
 
CLDN19-002
 
CLDN19-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLDN19-001 ENSP00000296387
ENST00000296387
Q8N6F1
Show all »
Show » Show » 224 23.2 No 4
CLDN19-002 ENSP00000361617
ENST00000372539
Q8N6F1
Show all »
Show » Show » 211 22.1 No 4
CLDN19-201 ENSP00000443229
ENST00000539749
Q8N6F1
Show all »
Show » Show » 218 22.7 No 3