Format

Send to:

Choose Destination
    • Showing Current items.

    CLDN19 claudin 19 [ Homo sapiens (human) ]

    Gene ID: 149461, updated on 24-Dec-2019

    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
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (42733093..42740254, 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 
    apical junction assembly IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of gene expression 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 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    tight junction organization 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 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 

    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_001185117.1NP_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 109.20191205

    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..42740254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center