Format

Send to:

Choose Destination

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

Gene ID: 57545, updated on 23-Nov-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
Try the new Gene table
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
109.20211119 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 109.20211119

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
Support Center