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CLDND2 claudin domain containing 2 [ Homo sapiens (human) ]

Gene ID: 125875, updated on 7-Apr-2024

Summary

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Official Symbol
CLDND2provided by HGNC
Official Full Name
claudin domain containing 2provided by HGNC
Primary source
HGNC:HGNC:28511
See related
Ensembl:ENSG00000160318 AllianceGenome:HGNC:28511
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 2.4), bone marrow (RPKM 0.9) and 19 other tissues See more
Orthologs
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Genomic context

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See CLDND2 in Genome Data Viewer
Location:
19q13.41
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51366739..51369003, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54455382..54457884, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51870352..51872257, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene V-set and immunoglobulin domain containing 10 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10984 Neighboring gene VSIG10L antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15012 Neighboring gene electron transfer flavoprotein subunit beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51869249-51870208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51871167-51872126 Neighboring gene uncharacterized LOC124904752 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51879781-51880038 Neighboring gene natural killer cell granule protein 7 Neighboring gene lens intrinsic membrane protein 2 Neighboring gene LIM2 and SIGLEC10 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H. Imai H, et al. Oncol Rep, 2014 Mar. PMID 24378760, Free PMC Article
  2. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
  3. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC33839

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
claudin domain-containing protein 2

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.

mRNA and Protein(s)

  1. NM_152353.3 → NP_689566.1  claudin domain-containing protein 2

    See identical proteins and their annotated locations for NP_689566.1

    Status: VALIDATED

    Source sequence(s)
    AC008750, BC029518
    Consensus CDS
    CCDS12829.1
    UniProtKB/Swiss-Prot
    Q8NHS1
    Related
    ENSP00000291715.1, ENST00000291715.5
    Conserved Domains (1) summary
    cl21598
    Location:10 → 144
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    51366739..51369003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438138.1 → XP_047294094.1  claudin domain-containing protein 2 isoform X1

  2. XM_047438137.1 → XP_047294093.1  claudin domain-containing protein 2 isoform X1

  3. XM_047438140.1 → XP_047294096.1  claudin domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8NHS1
    Related
    ENSP00000472077.1, ENST00000601435.1

  4. XM_047438139.1 → XP_047294095.1  claudin domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8NHS1

  5. XM_011526428.3 → XP_011524730.1  claudin domain-containing protein 2 isoform X3

    Conserved Domains (1) summary
    cl21598
    Location:10 → 69
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    54455382..54457884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319735.1 → XP_054175710.1  claudin domain-containing protein 2 isoform X1

  2. XM_054319734.1 → XP_054175709.1  claudin domain-containing protein 2 isoform X1

  3. XM_054319737.1 → XP_054175712.1  claudin domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8NHS1

  4. XM_054319736.1 → XP_054175711.1  claudin domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8NHS1

  5. XM_054319738.1 → XP_054175713.1  claudin domain-containing protein 2 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NHS1.1 GenPept UniProtKB/Swiss-Prot:Q8NHS1

Gene LinkOut

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