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    CCDC83 coiled-coil domain containing 83 [ Homo sapiens (human) ]

    Gene ID: 220047, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CCDC83provided by HGNC
    Official Full Name
    coiled-coil domain containing 83provided by HGNC
    Primary source
    HGNC:HGNC:28535
    See related
    Ensembl:ENSG00000150676 AllianceGenome:HGNC:28535
    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
    Also known as
    HSD9; CT148; KP-CoT-23
    Expression
    Restricted expression toward testis (RPKM 12.4) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q14.1-q14.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (85855066..85920013)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (85791751..85856708)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (85566426..85631056)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85396033-85396534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85396535-85397034 Neighboring gene coiled-coil domain containing 89 Neighboring gene synaptotagmin like 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:85472379-85473578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3822 Neighboring gene adenosylhomocysteinase pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85646587-85647178 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:85647179-85647769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5371 Neighboring gene solute carrier family 25 member 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:85665736-85666236 Neighboring gene phosphatidylinositol binding clathrin assembly protein Neighboring gene uncharacterized LOC124902730

    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. KP-CoT-23 (CCDC83) is a novel immunogenic cancer/testis antigen in colon cancer. Song MH, et al. Int J Oncol, 2012 Nov. PMID 22923163
    2. [Characteristics of a novel human testis-specific gene, HSD-9, and its encoding protein]. Wang Y, et al. Zhongguo Yi Xue Ke Xue Yuan Xue Bao, 2007 Jun. PMID 17633455
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These data suggest that KP-CoT-23 is a novel CT antigen that may be useful for the diagnosis and immunotherapy of cancer.
      Title: KP-CoT-23 (CCDC83) is a novel immunogenic cancer/testis antigen in colon cancer.
    2. HSD-9 is specific in human testes, and the expression pattern of its encoding product is similar to those of some endocytosis proteins.
      Title: [Characteristics of a novel human testis-specific gene, HSD-9, and its encoding protein].
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    Clone Names

    • FLJ42119, MGC34732

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 83

    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_001286159.2 → NP_001273088.1  coiled-coil domain-containing protein 83 isoform 2

      See identical proteins and their annotated locations for NP_001273088.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AP000974, AP003128
      Consensus CDS
      CCDS66196.1
      UniProtKB/Swiss-Prot
      B2RA49, Q6X7T2, Q6ZVT5, Q8IWF9, Q8N9Y1
      Related
      ENSP00000344512.3, ENST00000342404.8
      Conserved Domains (1) summary
      cl21456
      Location:80 → 140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    2. NM_173556.5 → NP_775827.2  coiled-coil domain-containing protein 83 isoform 1

      See identical proteins and their annotated locations for NP_775827.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000974, AP003128
      Consensus CDS
      CCDS8271.1
      UniProtKB/Swiss-Prot
      Q8IWF9
      Related
      ENSP00000280245.4, ENST00000280245.8
      Conserved Domains (1) summary
      cl21456
      Location:80 → 140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      85855066..85920013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544839.3 → XP_011543141.1  coiled-coil domain-containing protein 83 isoform X1

      See identical proteins and their annotated locations for XP_011543141.1

      UniProtKB/Swiss-Prot
      Q8IWF9
      Conserved Domains (1) summary
      cl21456
      Location:80 → 140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    2. XM_011544842.2 → XP_011543144.1  coiled-coil domain-containing protein 83 isoform X2

      Conserved Domains (1) summary
      cl21456
      Location:80 → 140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    3. XM_017017354.2 → XP_016872843.1  coiled-coil domain-containing protein 83 isoform X3

    4. XM_011544843.2 → XP_011543145.1  coiled-coil domain-containing protein 83 isoform X4

      UniProtKB/TrEMBL
      H0YDV3

    5. XM_047426560.1 → XP_047282516.1  coiled-coil domain-containing protein 83 isoform X5

    6. XM_017017355.2 → XP_016872844.1  coiled-coil domain-containing protein 83 isoform X6

      UniProtKB/TrEMBL
      H0YDV3
      Related
      ENSP00000434373.1, ENST00000526729.1

    7. XM_011544840.3 → XP_011543142.1  coiled-coil domain-containing protein 83 isoform X1

      See identical proteins and their annotated locations for XP_011543142.1

      UniProtKB/Swiss-Prot
      Q8IWF9
      Conserved Domains (1) summary
      cl21456
      Location:80 → 140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    8. XM_011544841.2 → XP_011543143.1  coiled-coil domain-containing protein 83 isoform X1

      See identical proteins and their annotated locations for XP_011543143.1

      UniProtKB/Swiss-Prot
      Q8IWF9
      Conserved Domains (1) summary
      cl21456
      Location:80 → 140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    9. XM_011544844.3 → XP_011543146.1  coiled-coil domain-containing protein 83 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      85791751..85856708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368025.1 → XP_054224000.1  coiled-coil domain-containing protein 83 isoform X1

    2. XM_054368028.1 → XP_054224003.1  coiled-coil domain-containing protein 83 isoform X2

    3. XM_054368029.1 → XP_054224004.1  coiled-coil domain-containing protein 83 isoform X3

    4. XM_054368030.1 → XP_054224005.1  coiled-coil domain-containing protein 83 isoform X4

    5. XM_054368031.1 → XP_054224006.1  coiled-coil domain-containing protein 83 isoform X5

    6. XM_054368032.1 → XP_054224007.1  coiled-coil domain-containing protein 83 isoform X6

    7. XM_054368026.1 → XP_054224001.1  coiled-coil domain-containing protein 83 isoform X1

    8. XM_054368027.1 → XP_054224002.1  coiled-coil domain-containing protein 83 isoform X1

    9. XM_054368033.1 → XP_054224008.1  coiled-coil domain-containing protein 83 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWF9.2 GenPept UniProtKB/Swiss-Prot:Q8IWF9

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