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    CCDC82 coiled-coil domain containing 82 [ Homo sapiens (human) ]

    Gene ID: 79780, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CCDC82provided by HGNC
    Official Full Name
    coiled-coil domain containing 82provided by HGNC
    Primary source
    HGNC:HGNC:26282
    See related
    Ensembl:ENSG00000149231 MIM:619870; AllianceGenome:HGNC:26282
    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
    HSPC048
    Summary
    Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.8), brain (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC82 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (96352773..96389912, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (96358768..96395934, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (96085937..96123076, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:95717913-95719112 Neighboring gene ribosomal protein L32 pseudogene 25 Neighboring gene NANOG hESC enhancer GRCh37_chr11:95745200-95745803 Neighboring gene mastermind like transcriptional coactivator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:95772973-95773473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3852 Neighboring gene Sharpr-MPRA regulatory region 5330 Neighboring gene HNF4 motif-containing MPRA enhancer 300 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:95882751-95883950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5420 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:95913186-95914079 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:95914080-95914972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5426 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:96057720-96058919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:96065505-96066005 Neighboring gene Sharpr-MPRA regulatory region 6339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3854 Neighboring gene microRNA 1260b Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3855 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:96143892-96144538 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:96144539-96145185 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:96160777-96160989 Neighboring gene JRK like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:96205677-96206178 Neighboring gene JRKL antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:96206179-96206678 Neighboring gene RNA, 5S ribosomal pseudogene 346

    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. Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. Yahia A, et al. Ann Hum Genet, 2022 Jul. PMID 35118659
    2. Parkinson disease loci in the mid-western Amish. Davis MF, et al. Hum Genet, 2013 Nov. PMID 23793441, Free PMC Article
    3. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Hu RM, et al. Proc Natl Acad Sci U S A, 2000 Aug 15. PMID 10931946, Free PMC Article
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
    5. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
      Title: Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
    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

    EBI GWAS Catalog

    Description
    Parkinson disease loci in the mid-western Amish.
    EBI GWAS Catalog

    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

    • FLJ23518

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 82

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001318736.2 → NP_001305665.1  coiled-coil domain-containing protein 82 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AF245436, AK074306, AP000848, BU742709
      Consensus CDS
      CCDS8307.1
      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Related
      ENSP00000495485.1, ENST00000645500.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    2. NM_001318737.3 → NP_001305666.1  coiled-coil domain-containing protein 82 isoform b

      Status: VALIDATED

      Source sequence(s)
      AP003781, BC018663, BP219605
      Consensus CDS
      CCDS86241.1
      UniProtKB/Swiss-Prot
      Q8N4S0
      Related
      ENSP00000495640.1, ENST00000530106.2
      Conserved Domains (1) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)

    3. NM_001363594.2 → NP_001350523.1  coiled-coil domain-containing protein 82 isoform c

      Status: VALIDATED

      Source sequence(s)
      AP000848, AP003781
      Consensus CDS
      CCDS86243.1
      UniProtKB/TrEMBL
      A0A7P0TBN6, B2RBH9
      Related
      ENSP00000506715.1, ENST00000680728.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 213
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:274 → 426
      DUF4211; Domain of unknown function (DUF4211)

    4. NM_024725.4 → NP_079001.2  coiled-coil domain-containing protein 82 isoform a

      See identical proteins and their annotated locations for NP_079001.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AF245436, BM678039, BU742709, DA801410
      Consensus CDS
      CCDS8307.1
      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Related
      ENSP00000496393.1, ENST00000646818.2
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    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
      96352773..96389912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274292.4 → XP_005274349.1  coiled-coil domain-containing protein 82 isoform X1

      See identical proteins and their annotated locations for XP_005274349.1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Related
      ENSP00000506164.1, ENST00000679960.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    2. XM_017018310.2 → XP_016873799.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3, A0A7P0T881
      Related
      ENSP00000506687.1, ENST00000680859.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    3. XM_011542988.4 → XP_011541290.1  coiled-coil domain-containing protein 82 isoform X1

      See identical proteins and their annotated locations for XP_011541290.1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Related
      ENSP00000504912.1, ENST00000680763.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    4. XM_024448693.2 → XP_024304461.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3, A0A7P0T881
      Related
      ENSP00000495913.1, ENST00000643839.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    5. XM_011542987.4 → XP_011541289.1  coiled-coil domain-containing protein 82 isoform X1

      See identical proteins and their annotated locations for XP_011541289.1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Related
      ENSP00000505833.1, ENST00000679856.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    6. XM_024448690.2 → XP_024304458.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Related
      ENSP00000506371.1, ENST00000679708.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    7. XM_047427606.1 → XP_047283562.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3

    8. XM_017018307.2 → XP_016873796.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    9. XM_011542984.4 → XP_011541286.1  coiled-coil domain-containing protein 82 isoform X1

      See identical proteins and their annotated locations for XP_011541286.1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      UniProtKB/TrEMBL
      B2RBH9
      Related
      ENSP00000494657.1, ENST00000646638.1
      Conserved Domains (2) summary
      pfam13846
      Location:98 → 236
      DUF4196; Domain of unknown function (DUF4196)
      pfam13926
      Location:297 → 449
      DUF4211; Domain of unknown function (DUF4211)

    10. XM_047427605.1 → XP_047283561.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      Related
      ENSP00000505977.1, ENST00000680979.1

    11. XM_047427603.1 → XP_047283559.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      Related
      ENSP00000505858.1, ENST00000680171.1

    12. XM_047427602.1 → XP_047283558.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    13. XM_047427607.1 → XP_047283563.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3

    14. XM_047427604.1 → XP_047283560.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3
      Related
      ENSP00000495063.1, ENST00000645439.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      96358768..96395934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369980.1 → XP_054225955.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3

    2. XM_054369977.1 → XP_054225952.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3

    3. XM_054369979.1 → XP_054225954.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3

    4. XM_054369978.1 → XP_054225953.1  coiled-coil domain-containing protein 82 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y7C3

    5. XM_054369971.1 → XP_054225946.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    6. XM_054369976.1 → XP_054225951.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    7. XM_054369975.1 → XP_054225950.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    8. XM_054369973.1 → XP_054225948.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    9. XM_054369970.1 → XP_054225945.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    10. XM_054369972.1 → XP_054225947.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    11. XM_054369969.1 → XP_054225944.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    12. XM_054369974.1 → XP_054225949.1  coiled-coil domain-containing protein 82 isoform X1

      UniProtKB/Swiss-Prot
      B3KPU7, Q8N4S0, Q8WV71, Q9H2Q5, Q9H5E3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014148.1: Suppressed sequence

      Description
      NM_014148.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4S0.2 GenPept UniProtKB/Swiss-Prot:Q8N4S0

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