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CLDN19 claudin 19 [ Homo sapiens (human) ]

Gene ID: 149461, updated on 10-Oct-2020

Summary

Official Symbol
CLDN19provided by HGNC
Official Full Name
claudin 19provided by HGNC
Primary source
HGNC:HGNC:2040
See related
Ensembl:ENSG00000164007 MIM:610036
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOMG5
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]
Expression
Biased expression in kidney (RPKM 11.6) and placenta (RPKM 4.9) See more
Orthologs

Genomic context

See CLDN19 in Genome Data Viewer
Location:
1p34.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (42733093..42740236, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43198764..43205925, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase H Neighboring gene Y-box binding protein 1 Neighboring gene prolyl 3-hydroxylase 1 Neighboring gene chromosome 1 open reading frame 50 Neighboring gene TMEM269 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuronal action potential propagation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical junction complex IDA
Inferred from Direct Assay
more info
PubMed 
apical junction complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008993.1 RefSeqGene

    Range
    5019..12162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001123395.2NP_001116867.1  claudin-19 isoform b

    See identical proteins and their annotated locations for NP_001116867.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC098484, AK096063, BC030524, BM681600
    Consensus CDS
    CCDS44125.1
    UniProtKB/Swiss-Prot
    Q8N6F1
    Related
    ENSP00000361617.3, ENST00000372539.3
    Conserved Domains (1) summary
    cl21598
    Location:4182
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001185117.2NP_001172046.1  claudin-19 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the CDS, which results in frame-shift, and contains an additional segment in the 3' region compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC098484, AK096063, AK298992
    Consensus CDS
    CCDS53306.1
    UniProtKB/Swiss-Prot
    Q8N6F1
    Related
    ENSP00000443229.1, ENST00000539749.5
    Conserved Domains (1) summary
    cl21598
    Location:4139
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_148960.3NP_683763.2  claudin-19 isoform a

    See identical proteins and their annotated locations for NP_683763.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript, but encodes the longest isoform (a).
    Source sequence(s)
    AC098484, AK096063, BC030524
    Consensus CDS
    CCDS471.1
    UniProtKB/Swiss-Prot
    Q8N6F1
    Related
    ENSP00000296387.1, ENST00000296387.6
    Conserved Domains (1) summary
    cl21598
    Location:4182
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    42733093..42740236 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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