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    CC2D2B coiled-coil and C2 domain containing 2B [ Homo sapiens (human) ]

    Gene ID: 387707, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CC2D2Bprovided by HGNC
    Official Full Name
    coiled-coil and C2 domain containing 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:31666
    See related
    Ensembl:ENSG00000188649 AllianceGenome:HGNC:31666
    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
    C10orf130; C10orf131
    Summary
    Predicted to be involved in non-motile cilium assembly and protein localization to ciliary transition zone. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 1.9), endometrium (RPKM 0.3) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CC2D2B in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (95907671..96033745)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (96786760..96913054)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (97667732..97793502)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3801 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:97454143-97454644 Neighboring gene tectonic family member 3 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 1 Neighboring gene MPRA-validated peak1056 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2650 Neighboring gene ENTPD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3811 Neighboring gene Sharpr-MPRA regulatory region 13404 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:97645298-97645457 Neighboring gene MPRA-validated peak1059 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3814 Neighboring gene ribosomal protein L21 pseudogene 90 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:97786197-97787396 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:97802729-97802923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2652 Neighboring gene cyclin J Neighboring gene microRNA 3157

    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. The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency. Rupar N, et al. Gene, 2024 Aug 15. PMID 38679185
    2. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. Zhang D, et al. Cell Cycle, 2012 Oct 15. PMID 22983010, Free PMC Article
    3. Ovarian tumorB1-mediated heat shock transcription factor 1 deubiquitination is critical for glycolysis and development of endometriosis. Ling X, et al. iScience, 2022 Nov 18. PMID 36339263, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. Oliviero G, et al. Sci Rep, 2015 Dec 21. PMID 26687479, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
      Title: The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10895, FLJ12141, FLJ59588

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein CC2D2B
    Names
    uncharacterized protein C10orf131

    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_001001732.4 → NP_001001732.2  protein CC2D2B isoform 2

      See identical proteins and their annotated locations for NP_001001732.2

      Status: VALIDATED

      Source sequence(s)
      AL356155, AL513355
      Consensus CDS
      CCDS41555.1
      UniProtKB/Swiss-Prot
      Q6DHV5
      Related
      ENSP00000343747.3, ENST00000344386.3

    2. NM_001130446.3 → NP_001123918.2  protein CC2D2B isoform 4

      See identical proteins and their annotated locations for NP_001123918.2

      Status: VALIDATED

      Source sequence(s)
      AL365273, AL513355
      Consensus CDS
      CCDS58090.1
      Related
      ENSP00000411850.2, ENST00000423344.6
      Conserved Domains (1) summary
      pfam17661
      Location:14 → 170
      DUF5523; Family of unknown function (DUF5523)

    3. NM_001159747.2 → NP_001153219.1  protein CC2D2B isoform 1

      See identical proteins and their annotated locations for NP_001153219.1

      Status: VALIDATED

      Source sequence(s)
      AL356155, AL513355
      Consensus CDS
      CCDS53560.1
      UniProtKB/Swiss-Prot
      Q6DHV5
      Related
      ENSP00000386988.2, ENST00000410012.6

    4. NM_001349008.3 → NP_001335937.1  protein CC2D2B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL356155, AL365273, AL513355
      Consensus CDS
      CCDS91310.1
      UniProtKB/Swiss-Prot
      A0A1B0GVB6, A0A2R8Y8B5, A2A3E9, A6NCD4, B1AMZ2, B4DG41, B4DYD4, E9PCC3, Q5VUS0, Q6DHV5
      Related
      ENSP00000496666.2, ENST00000646931.3
      Conserved Domains (3) summary
      pfam15625
      Location:470 → 638
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      pfam17661
      Location:22 → 267
      DUF5523; Family of unknown function (DUF5523)
      cl14603
      Location:900 → 945
      C2; C2 domain

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      95907671..96033745
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447995.2 → XP_024303763.1  protein CC2D2B isoform X1

      UniProtKB/Swiss-Prot
      A0A1B0GVB6, A0A2R8Y8B5, A2A3E9, A6NCD4, B1AMZ2, B4DG41, B4DYD4, E9PCC3, Q5VUS0, Q6DHV5
      Conserved Domains (3) summary
      pfam15625
      Location:470 → 638
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      pfam17661
      Location:22 → 267
      DUF5523; Family of unknown function (DUF5523)
      cl14603
      Location:900 → 945
      C2; C2 domain

    2. XM_024447996.2 → XP_024303764.1  protein CC2D2B isoform X2

      Conserved Domains (2) summary
      pfam15625
      Location:462 → 629
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:892 → 937
      C2; C2 domain

    3. XM_024447998.2 → XP_024303766.1  protein CC2D2B isoform X3

      Conserved Domains (2) summary
      pfam15625
      Location:470 → 637
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:900 → 945
      C2; C2 domain

    4. XM_024448001.2 → XP_024303769.1  protein CC2D2B isoform X5

      Conserved Domains (2) summary
      pfam15625
      Location:470 → 637
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:900 → 945
      C2; C2 domain

    5. XM_024448005.2 → XP_024303773.1  protein CC2D2B isoform X11

      Conserved Domains (2) summary
      pfam15625
      Location:470 → 637
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl27773
      Location:906 → 1044
      SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

    6. XM_024448004.2 → XP_024303772.1  protein CC2D2B isoform X8

      UniProtKB/TrEMBL
      A0A5S8K7B6
      Related
      ENSP00000490447.1, ENST00000636965.1
      Conserved Domains (1) summary
      cl14603
      Location:741 → 786
      C2; C2 domain

    7. XM_024447999.2 → XP_024303767.1  protein CC2D2B isoform X4

      Conserved Domains (2) summary
      pfam15625
      Location:427 → 594
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:857 → 902
      C2; C2 domain

    8. XM_011539789.4 → XP_011538091.2  protein CC2D2B isoform X9

      Conserved Domains (2) summary
      pfam15625
      Location:283 → 450
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:713 → 758
      C2; C2 domain

    9. XM_024448002.2 → XP_024303770.1  protein CC2D2B isoform X6

      Conserved Domains (2) summary
      pfam15625
      Location:470 → 637
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:900 → 945
      C2; C2 domain

    10. XM_024448003.2 → XP_024303771.1  protein CC2D2B isoform X7

      Conserved Domains (2) summary
      pfam15625
      Location:470 → 637
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:900 → 945
      C2; C2 domain

    11. XM_024448006.2 → XP_024303774.1  protein CC2D2B isoform X14

      Conserved Domains (2) summary
      pfam15625
      Location:470 → 637
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:900 → 945
      C2; C2 domain

    12. XM_047425225.1 → XP_047281181.1  protein CC2D2B isoform X10

    13. XM_047425227.1 → XP_047281183.1  protein CC2D2B isoform X13

    14. XM_047425226.1 → XP_047281182.1  protein CC2D2B isoform X12

    RNA

    1. XR_002956979.2 RNA Sequence

    2. XR_002956978.2 RNA Sequence

    3. XR_002956977.2 RNA Sequence

    4. XR_002956980.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      96786760..96913054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365883.1 → XP_054221858.1  protein CC2D2B isoform X1

    2. XM_054365884.1 → XP_054221859.1  protein CC2D2B isoform X2

    3. XM_054365885.1 → XP_054221860.1  protein CC2D2B isoform X3

    4. XM_054365887.1 → XP_054221862.1  protein CC2D2B isoform X5

    5. XM_054365893.1 → XP_054221868.1  protein CC2D2B isoform X11

    6. XM_054365890.1 → XP_054221865.1  protein CC2D2B isoform X8

    7. XM_054365886.1 → XP_054221861.1  protein CC2D2B isoform X4

    8. XM_054365891.1 → XP_054221866.1  protein CC2D2B isoform X9

    9. XM_054365888.1 → XP_054221863.1  protein CC2D2B isoform X6

    10. XM_054365889.1 → XP_054221864.1  protein CC2D2B isoform X7

    11. XM_054365896.1 → XP_054221871.1  protein CC2D2B isoform X14

    12. XM_054365892.1 → XP_054221867.1  protein CC2D2B isoform X10

    13. XM_054365895.1 → XP_054221870.1  protein CC2D2B isoform X13

    14. XM_054365894.1 → XP_054221869.1  protein CC2D2B isoform X12

    RNA

    1. XR_008488217.1 RNA Sequence

    2. XR_008488216.1 RNA Sequence

    3. XR_008488215.1 RNA Sequence

    4. XR_008488218.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001098847.1: Suppressed sequence

      Description
      NM_001098847.1: This RefSeq was permanently suppressed because the protein and transcript are not sufficiently supported and the protein-coding locus type designation was considered uncertain.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DHV5.4 GenPept UniProtKB/Swiss-Prot:Q6DHV5

    Gene LinkOut

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

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