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

Gene ID: 220047, updated on 3-Nov-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
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Genomic context

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See CCDC83 in Genome Data Viewer
Location:
11q14.1-q14.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (85855066..85920013)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (85791751..85856708)
RS_2024_09 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 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. DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples. Jiao F, et al. J Proteome Res, 2024 Aug 2. PMID 38334954, Free PMC Article

See all (10) 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_2024_08

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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