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

Gene ID: 387707, updated on 2-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
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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 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)

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

  • 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

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