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cc2d2a coiled-coil and C2 domain containing 2A [ Danio rerio (zebrafish) ]

Gene ID: 570250, updated on 28-Oct-2024

Summary

Official Symbol
cc2d2aprovided by ZNC
Official Full Name
coiled-coil and C2 domain containing 2Aprovided by ZNC
Primary source
ZFIN:ZDB-GENE-030131-2291
See related
Ensembl:ENSDARG00000090971 AllianceGenome:ZFIN:ZDB-GENE-030131-2291
Gene type
protein coding
RefSeq status
MODEL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
fc03c12; wu:fc03c12
Summary
Acts upstream of or within photoreceptor cell outer segment organization. Located in photoreceptor connecting cilium. Is expressed in central nervous system; pronephric duct; and receptor cell (sensu Animalia). Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A). [provided by Alliance of Genome Resources, Oct 2024]
Orthologs
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Genomic context

See cc2d2a in Genome Data Viewer
Location:
chromosome: 23
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 23 NC_007134.7 (2191987..2256618)
105 previous assembly GRCz10 (GCF_000002035.5) 23 NC_007134.6 (2256261..2320948)

Chromosome 23 - NC_007134.7Genomic Context describing neighboring genes Neighboring gene NLR family CARD domain-containing protein 3-like Neighboring gene C1q and TNF related 7 Neighboring gene pleckstrin homology domain-containing family G member 1 Neighboring gene uncharacterized LOC103909650 Neighboring gene uncharacterized LOC137489065

Genomic regions, transcripts, and products

Expression

  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General protein information

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

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007134.7 Reference GRCz11 Primary Assembly

    Range
    2191987..2256618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_009296578.3XP_009294853.1  coiled-coil and C2 domain-containing protein 2A isoform X1

    UniProtKB/TrEMBL
    A0A8M3B5V4
    Conserved Domains (3) summary
    pfam15625
    Location:693863
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:11461182
    C2; C2 domain
    cl23765
    Location:502630
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  2. XM_009296579.3XP_009294854.1  coiled-coil and C2 domain-containing protein 2A isoform X3

    UniProtKB/TrEMBL
    A0A8M3ANC5
    Conserved Domains (3) summary
    pfam15625
    Location:693863
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:11461182
    C2; C2 domain
    cl23765
    Location:502630
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  3. XM_009296580.3XP_009294855.1  coiled-coil and C2 domain-containing protein 2A isoform X2

    UniProtKB/TrEMBL
    A0A8M3AY26
    Conserved Domains (3) summary
    pfam15625
    Location:693863
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:11411177
    C2; C2 domain
    cl23765
    Location:502630
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  4. XM_003201161.5XP_003201209.2  coiled-coil and C2 domain-containing protein 2A isoform X4

    UniProtKB/TrEMBL
    A0A8M1RP95
    Conserved Domains (3) summary
    pfam15625
    Location:693863
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:11411177
    C2; C2 domain
    cl23765
    Location:502630
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  5. XM_009296581.3XP_009294856.1  coiled-coil and C2 domain-containing protein 2A isoform X5

    UniProtKB/TrEMBL
    A0A8M3AV15
    Conserved Domains (3) summary
    pfam15625
    Location:674844
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:11271163
    C2; C2 domain
    cl23765
    Location:483611
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  6. XM_068216822.1XP_068072923.1  coiled-coil and C2 domain-containing protein 2A isoform X6

    Related
    ENSDARP00000107405.2, ENSDART00000126768.3