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    CC2D2A coiled-coil and C2 domain containing 2A [ Homo sapiens (human) ]

    Gene ID: 57545, updated on 8-Jul-2021

    Summary

    Official Symbol
    CC2D2Aprovided by HGNC
    Official Full Name
    coiled-coil and C2 domain containing 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:29253
    See related
    Ensembl:ENSG00000048342 MIM:612013
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MKS6; JBTS9; COACH2
    Summary
    This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
    Expression
    Ubiquitous expression in kidney (RPKM 3.7), endometrium (RPKM 3.2) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CC2D2A in Genome Data Viewer
    Location:
    4p15.32
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (15468660..15601557)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (15471489..15603180)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene C1QTNF7 antisense RNA 1 Neighboring gene C1q and TNF related 7 Neighboring gene uncharacterized LOC107986185 Neighboring gene F-box and leucine rich repeat protein 5 Neighboring gene family with sequence similarity 200 member B Neighboring gene ribosomal protein L10a pseudogene 7 Neighboring gene bone marrow stromal cell antigen 1

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    COACH syndrome 2
    MedGen: C5436837 OMIM: 619111 GeneReviews: Not available
    Compare labs
    Genome-wide association study of conduct disorder symptomatology.
    GeneReviews: Not available
    Joubert syndrome 9
    MedGen: C2676788 OMIM: 612285 GeneReviews: Joubert Syndrome
    Compare labs
    Meckel syndrome type 6
    MedGen: C2676790 OMIM: 612284 GeneReviews: Not available
    Compare labs
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1345

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axoneme assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    coiled-coil and C2 domain-containing protein 2A

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_013035.1 RefSeqGene

      Range
      5001..136692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_697

    mRNA and Protein(s)

    1. NM_001080522.2NP_001073991.2  coiled-coil and C2 domain-containing protein 2A isoform a

      See identical proteins and their annotated locations for NP_001073991.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BX647334, CF528984, EU450799, N35522
      Consensus CDS
      CCDS47026.1
      UniProtKB/Swiss-Prot
      Q9P2K1
      Related
      ENSP00000421809.1, ENST00000503292.6
      Conserved Domains (5) summary
      COG1340
      Location:427549
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam10172
      Location:10661099
      DDA1; Det1 complexing ubiquitin ligase
      pfam15625
      Location:645819
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      pfam17661
      Location:131383
      DUF5523; Family of unknown function (DUF5523)
      cl14603
      Location:10971135
      C2; C2 domain
    2. NM_001164720.3NP_001158192.1  coiled-coil and C2 domain-containing protein 2A isoform c

      See identical proteins and their annotated locations for NP_001158192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the presence and absence of exons at its 3' end, compared to variant 1. The encoded isoform (c) has a distinct and significantly shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AI376394, BC053865, N35522
      Consensus CDS
      CCDS54744.1
      UniProtKB/Swiss-Prot
      Q9P2K1
      Related
      ENSP00000424368.1, ENST00000515124.6
    3. NM_001378615.1NP_001365544.1  coiled-coil and C2 domain-containing protein 2A isoform a

      Status: REVIEWED

      Source sequence(s)
      AC007016, AC116651
      Related
      ENSP00000403465.1, ENST00000424120.6
      Conserved Domains (5) summary
      COG1340
      Location:427549
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam10172
      Location:10661099
      DDA1; Det1 complexing ubiquitin ligase
      pfam15625
      Location:645819
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      pfam17661
      Location:131383
      DUF5523; Family of unknown function (DUF5523)
      cl14603
      Location:10971135
      C2; C2 domain
    4. NM_001378617.1NP_001365546.1  coiled-coil and C2 domain-containing protein 2A

      Status: REVIEWED

      Source sequence(s)
      AC007016, AC116651
      Related
      ENSP00000422931.2, ENST00000506643.5
      Conserved Domains (5) summary
      COG1340
      Location:378500
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam10172
      Location:10171050
      DDA1; Det1 complexing ubiquitin ligase
      pfam15625
      Location:596770
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      pfam17661
      Location:82334
      DUF5523; Family of unknown function (DUF5523)
      cl14603
      Location:10481086
      C2; C2 domain
    5. NM_020785.2NP_065836.2  coiled-coil and C2 domain-containing protein 2A isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region that results in a frameshift, and differs in the presence and absence of exons at its 3' end, compared to variant 1. The encoded isoform (b) has a distinct and significantly shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AI376394, BC053865, BC070395, DA860072, N35522
      Consensus CDS
      CCDS47027.2
      UniProtKB/Swiss-Prot
      Q9P2K1
      Related
      ENSP00000426846.1, ENST00000503658.2

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      15468660..15601557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513874.2XP_011512176.1  coiled-coil and C2 domain-containing protein 2A isoform X4

      See identical proteins and their annotated locations for XP_011512176.1

      UniProtKB/Swiss-Prot
      Q9P2K1
      Related
      ENSP00000427221.1, ENST00000507954.5
    2. XM_011513872.3XP_011512174.1  coiled-coil and C2 domain-containing protein 2A isoform X3

      Related
      ENSP00000498775.1, ENST00000650860.2
      Conserved Domains (1) summary
      pfam15625
      Location:645816
      CC2D2AN-C2; CC2D2A N-terminal C2 domain

    RNA

    1. XR_001741296.1 RNA Sequence

      Related
      ENST00000676337.1
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