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DOC2A double C2 domain alpha [ Homo sapiens (human) ]

Gene ID: 8448, updated on 12-Aug-2018

Summary

Official Symbol
DOC2Aprovided by HGNC
Official Full Name
double C2 domain alphaprovided by HGNC
Primary source
HGNC:HGNC:2985
See related
Ensembl:ENSG00000149927 MIM:604567; Vega:OTTHUMG00000132109
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
Doc2
Summary
There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Broad expression in brain (RPKM 11.9), testis (RPKM 7.1) and 15 other tissues See more
Orthologs

Genomic context

See DOC2A in Genome Data Viewer
Location:
16p11.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (30005514..30023280, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30016835..30023424, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene TAO kinase 2 Neighboring gene HIRA interacting protein 3 Neighboring gene INO80 complex subunit E Neighboring gene chromosome 16 open reading frame 92 Neighboring gene family with sequence similarity 57 member B Neighboring gene aldolase, fructose-bisphosphate A

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
regulation of calcium ion-dependent exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
extrinsic component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
double C2-like domain-containing protein alpha
Names
doc2-alpha
double C2-like domains, alpha

NCBI Reference Sequences (RefSeq)

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_001282062.1NP_001268991.1  double C2-like domain-containing protein alpha

    See identical proteins and their annotated locations for NP_001268991.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AC093512, BC055284, BC063436, DC399462
    Consensus CDS
    CCDS10666.1
    UniProtKB/Swiss-Prot
    Q14183
    Conserved Domains (2) summary
    cd04035
    Location:90213
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:254386
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
  2. NM_001282063.1NP_001268992.1  double C2-like domain-containing protein alpha

    See identical proteins and their annotated locations for NP_001268992.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate terminal exon in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    BC041769, BC055284
    Consensus CDS
    CCDS10666.1
    UniProtKB/Swiss-Prot
    Q14183
    Related
    ENSP00000482870.1, ENST00000616445.4
    Conserved Domains (2) summary
    cd04035
    Location:90213
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:254386
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
  3. NM_001282068.1NP_001268997.1  double C2-like domain-containing protein alpha

    See identical proteins and their annotated locations for NP_001268997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons and contains an alternate terminal exon in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AC093512, BC055284, BI757951, D31897
    Consensus CDS
    CCDS10666.1
    UniProtKB/Swiss-Prot
    Q14183
    Related
    ENSP00000455624.1, OTTHUMP00000255830, ENST00000564979.5, OTTHUMT00000435339
    Conserved Domains (2) summary
    cd04035
    Location:90213
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:254386
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
  4. NM_003586.2NP_003577.2  double C2-like domain-containing protein alpha

    See identical proteins and their annotated locations for NP_003577.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    BC055284
    Consensus CDS
    CCDS10666.1
    UniProtKB/Swiss-Prot
    Q14183
    Related
    ENSP00000340017.4, OTTHUMP00000162986, ENST00000350119.8, OTTHUMT00000255148
    Conserved Domains (2) summary
    cd04035
    Location:90213
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:254386
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

RNA

  1. NR_104089.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks one alternate exon and uses an alternate splice site in one exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon found in variant 1, and the use of the 5'-most translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC055284, BX460259
  2. NR_104090.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses alternate splice sites in three exons compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon found in variant 1, and translation of its longest ORF would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093512, AK293651, BC055284

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    30005514..30023280 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545975.1XP_011544277.1  double C2-like domain-containing protein alpha isoform X2

    See identical proteins and their annotated locations for XP_011544277.1

    UniProtKB/Swiss-Prot
    Q14183
    Conserved Domains (2) summary
    cd04035
    Location:90213
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:254386
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
  2. XM_024450472.1XP_024306240.1  double C2-like domain-containing protein alpha isoform X1

    Conserved Domains (2) summary
    cd04035
    Location:90280
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:321453
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
  3. XM_024450473.1XP_024306241.1  double C2-like domain-containing protein alpha isoform X2

    Conserved Domains (2) summary
    cd04035
    Location:90213
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:254386
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
  4. XM_024450474.1XP_024306242.1  double C2-like domain-containing protein alpha isoform X2

    Conserved Domains (2) summary
    cd04035
    Location:90213
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:254386
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
  5. XM_017023778.1XP_016879267.1  double C2-like domain-containing protein alpha isoform X3

    Conserved Domains (2) summary
    cd08384
    Location:136268
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
    cl14603
    Location:195
    C2; C2 domain
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