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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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