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

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; AllianceGenome:HGNC:2985
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: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (30005514..30023228, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (30288154..30305880, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (30016835..30024917, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study demonstrated that the DOCA2 increase expression in temporal lobe in temporal lobe epilepsy.
Title: Increased expression of DOC2A in human and rat temporal lobe epilepsy.
this study, members of the Doc2 family of presynaptic proteins were eliminated, which caused a reduction in spontaneous neurotransmission, whereas action potential-evoked neurotransmission remained relatively normal.
Title: Loss of Doc2-Dependent Spontaneous Neurotransmission Augments Glutamatergic Synaptic Strength.
Study analyzed Doc2alpha and Doc2beta and found that Doc2 responds to changes in [Ca2+], with markedly slower kinetics as compared to the cytosolic domain of syt I (syt), and operates on a timescale consistent with asynchronous neurotransmitter release.
Title: Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Strong synaptic transmission impact by copy number variations in schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99266 (e-PCR)
- UniSTS:92279

RH80757 (e-PCR)
- UniSTS:89750

SHGC-149978 (e-PCR)
- UniSTS:182973

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-dependent phospholipid binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium-dependent activation of synaptic vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of calcium ion-dependent exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of calcium ion-dependent exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spontaneous neurotransmitter secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
is_active_in extrinsic component of synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: double C2-like domain-containing protein alpha

Names: doc2-alpha; double C2-like domains, alpha

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)

NM_001282062.1 → NP_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

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0

Conserved Domains (2) summary

cd04035
Location:90 → 213

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:254 → 386

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
NM_001282063.2 → NP_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)

AC093512, BC041769, BC055284

Consensus CDS

CCDS10666.1

UniProtKB/Swiss-Prot

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0

Related

ENSP00000482870.1, ENST00000616445.4

Conserved Domains (2) summary

cd04035
Location:90 → 213

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:254 → 386

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
NM_001282068.2 → NP_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

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0

Related

ENSP00000455624.1, ENST00000564979.5

Conserved Domains (2) summary

cd04035
Location:90 → 213

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:254 → 386

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
NM_003586.3 → NP_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

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0

Related

ENSP00000340017.4, ENST00000350119.9

Conserved Domains (2) summary

cd04035
Location:90 → 213

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:254 → 386

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

RNA

NR_104089.2 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
NR_104090.2 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

30005514..30023228 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434807.1 → XP_047290763.1 double C2-like domain-containing protein alpha isoform X1

UniProtKB/Swiss-Prot

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0
XM_047434804.1 → XP_047290760.1 double C2-like domain-containing protein alpha isoform X1

UniProtKB/Swiss-Prot

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0
XM_047434803.1 → XP_047290759.1 double C2-like domain-containing protein alpha isoform X1

UniProtKB/Swiss-Prot

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0
XM_047434805.1 → XP_047290761.1 double C2-like domain-containing protein alpha isoform X1

UniProtKB/Swiss-Prot

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0
XM_047434802.1 → XP_047290758.1 double C2-like domain-containing protein alpha isoform X1

UniProtKB/Swiss-Prot

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0
XM_047434806.1 → XP_047290762.1 double C2-like domain-containing protein alpha isoform X1

UniProtKB/Swiss-Prot

B4DEJ2, H3BNH6, Q14183, Q6P4G4, Q7Z5G0, Q8IVX0

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

30288154..30305880 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314197.1 → XP_054170172.1 double C2-like domain-containing protein alpha isoform X1
XM_054314196.1 → XP_054170171.1 double C2-like domain-containing protein alpha isoform X1
XM_054314198.1 → XP_054170173.1 double C2-like domain-containing protein alpha isoform X1
XM_054314195.1 → XP_054170170.1 double C2-like domain-containing protein alpha isoform X1
XM_054314199.1 → XP_054170174.1 double C2-like domain-containing protein alpha isoform X1