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CLDN16 claudin 16 [ Homo sapiens (human) ]

Gene ID: 10686, updated on 11-Jun-2021

Summary

Official Symbol
CLDN16provided by HGNC
Official Full Name
claudin 16provided by HGNC
Primary source
HGNC:HGNC:2037
See related
Ensembl:ENSG00000113946 MIM:603959
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
HOMG3; PCLN1
Summary
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]
Expression
Biased expression in kidney (RPKM 20.4), thyroid (RPKM 4.2) and 1 other tissue See more
Orthologs
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Genomic context

See CLDN16 in Genome Data Viewer
Location:
3q28
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (190290361..190412138)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (190008150..190129927)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1109, pseudogene Neighboring gene NMNAT1 pseudogene 3 Neighboring gene claudin 1 Neighboring gene Sharpr-MPRA regulatory region 14389 Neighboring gene transmembrane protein 207 Neighboring gene interleukin 1 receptor accessory protein Neighboring gene glucosaminyl (N-acetyl) transferase 1 pseudogene 3

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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables magnesium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular metal ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
involved_in excretion TAS
Traceable Author Statement
more info
PubMed 
involved_in magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
claudin-16
Names
hypomagnesemia 3, with hypercalciuria and nephrocalcinosis
paracellin-1

NCBI Reference Sequences (RefSeq)

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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_008149.1 RefSeqGene

    Range
    4821..29092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001378492.1NP_001365421.1  claudin-16

    Status: REVIEWED

    Source sequence(s)
    AC009520, AC080006
    Conserved Domains (1) summary
    cl21598
    Location:11183
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001378493.1NP_001365422.1  claudin-16

    Status: REVIEWED

    Source sequence(s)
    AC009520, AC080006
    Conserved Domains (1) summary
    cl21598
    Location:11183
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_006580.4NP_006571.2  claudin-16

    Status: REVIEWED

    Source sequence(s)
    AC009520
    Consensus CDS
    CCDS3296.1
    Related
    ENSP00000264734.3, ENST00000264734.3
    Conserved Domains (1) summary
    cl21598
    Location:11183
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    190290361..190412138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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