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

Gene ID: 387707, updated on 26-Oct-2022

Summary

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, Apr 2022]
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

See CC2D2B in Genome Data Viewer
Location:
10q24.1
Exon count:
42
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (95907671..96033745)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (96787064..96913054)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (97667732..97793502)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene tectonic family member 3 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 1 Neighboring gene ENTPD1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13404 Neighboring gene ribosomal protein L21 pseudogene 90 Neighboring gene cyclin J Neighboring gene microRNA 3157

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in protein localization to ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001001732.4NP_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_001130446.3NP_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
    UniProtKB/Swiss-Prot
    Q6DHV5
    Related
    ENSP00000411850.2, ENST00000423344.6
    Conserved Domains (1) summary
    pfam17661
    Location:14170
    DUF5523; Family of unknown function (DUF5523)
  3. NM_001159747.2NP_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_001349008.3NP_001335937.1  protein CC2D2B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL356155, AL365273, AL513355
    Consensus CDS
    CCDS91310.1
    UniProtKB/Swiss-Prot
    Q5VUS0
    Related
    ENSP00000496666.2, ENST00000646931.3
    Conserved Domains (3) summary
    pfam15625
    Location:470638
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    pfam17661
    Location:22267
    DUF5523; Family of unknown function (DUF5523)
    cl14603
    Location:900945
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_024447995.2XP_024303763.1  protein CC2D2B isoform X1

    UniProtKB/Swiss-Prot
    Q5VUS0
    Conserved Domains (3) summary
    pfam15625
    Location:470638
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    pfam17661
    Location:22267
    DUF5523; Family of unknown function (DUF5523)
    cl14603
    Location:900945
    C2; C2 domain
  2. XM_024447996.2XP_024303764.1  protein CC2D2B isoform X2

    Conserved Domains (2) summary
    pfam15625
    Location:462629
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:892937
    C2; C2 domain
  3. XM_024447998.2XP_024303766.1  protein CC2D2B isoform X3

    Conserved Domains (2) summary
    pfam15625
    Location:470637
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:900945
    C2; C2 domain
  4. XM_024448001.2XP_024303769.1  protein CC2D2B isoform X5

    Conserved Domains (2) summary
    pfam15625
    Location:470637
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:900945
    C2; C2 domain
  5. XM_024448005.2XP_024303773.1  protein CC2D2B isoform X11

    Conserved Domains (2) summary
    pfam15625
    Location:470637
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl27773
    Location:9061044
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  6. XM_024448004.2XP_024303772.1  protein CC2D2B isoform X8

    Related
    ENSP00000490447.1, ENST00000636965.1
    Conserved Domains (1) summary
    cl14603
    Location:741786
    C2; C2 domain
  7. XM_024447999.2XP_024303767.1  protein CC2D2B isoform X4

    Conserved Domains (2) summary
    pfam15625
    Location:427594
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:857902
    C2; C2 domain
  8. XM_011539789.4XP_011538091.2  protein CC2D2B isoform X9

    Conserved Domains (2) summary
    pfam15625
    Location:283450
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:713758
    C2; C2 domain
  9. XM_024448002.2XP_024303770.1  protein CC2D2B isoform X6

    Conserved Domains (2) summary
    pfam15625
    Location:470637
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:900945
    C2; C2 domain
  10. XM_024448003.2XP_024303771.1  protein CC2D2B isoform X7

    Conserved Domains (2) summary
    pfam15625
    Location:470637
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:900945
    C2; C2 domain
  11. XM_024448006.2XP_024303774.1  protein CC2D2B isoform X14

    Conserved Domains (2) summary
    pfam15625
    Location:470637
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:900945
    C2; C2 domain
  12. XM_047425225.1XP_047281181.1  protein CC2D2B isoform X10

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

  14. XM_047425226.1XP_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
    96787064..96913054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.