DOC2A - double C2 domain alpha Gene

Homo sapiens

Also known as Doc2

Gene ID: 8448 | Gene type: protein coding

About DOC2A

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,005,514-30,023,228 (from NCBI)

This gene has 18 transcripts (splice variants), 248 orthologues and 31 paralogues. Broad expression in brain (RPKM 11.9), testis (RPKM 7.1) and 15 other tissues.

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]

DOC2A Products(4)

mRNA	Protein	Name
NM_001282062.1	NP_001268991.1	double C2-like domain-containing protein alpha
NM_001282063.2	NP_001268992.1	double C2-like domain-containing protein alpha
NM_001282068.2	NP_001268997.1	double C2-like domain-containing protein alpha
NM_003586.3	NP_003577.2	double C2-like domain-containing protein alpha

DOC2A Protein Structure

0
100
200
300
400 a.a.

Protein Preferred Names

Protein Names

double C2-like domain-containing protein alpha

doc2-alpha

Related Diseases

Diseases

Alias

Spondylocostal Dysostosis 5

Spondylothoracic Dysostosis	SCDO5
Jarcho-Levin Syndrome	Scoliosis, Congenital, With Or Without Rib Anomalies
Tacs	Spondylocostal Dysplasia
Costovertebral Segmentation Anomalies	Spondylocostal Dysostosis 1
Spondylocostal Dysostosis	Spondylothoracic Dysplasia
Scdo1	Spondylocostal Dysostosis 1 Autosomal Recessive
Costovertebral Dysplasia	Scdo
Std	Autosomal Dominant Spondylocostal Dysostosis
Autosomal Dominant Spondylocostal Dysplasia	Doid:0112363
Spondylocostal Dysostosis 4, Autosomal Dominant

Chromosome 16p11.2 Duplication Syndrome

Proximal 16p11.2 Microduplication Syndrome	Proximal Dup(16)(P11.2)
Proximal Trisomy 16p11.2	Autism, Susceptibility To, 14b
Autism 14b

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity	Semdjl
Spondyloepimetaphyseal Dysplasia Joint Laxity	Semd-Jl
Semdjl1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Episodic Kinesigenic Dyskinesia 1

Paroxysmal Kinesigenic Choreoathetosis	Paroxysmal Kinesigenic Dyskinesia
Dystonia 10	Familial Paroxysmal Kinesigenic Dyskinesia
Episodic Kinesigenic Dyskinesia	EKD1
Pkc	Pkd
Dyt10	Familial Pkd
Paroxysmal Kinesigenic Choreathetosis	Familial Paroxysmal Dystonia
Dystonia, Familial Paroxysmal	Dyt-Prrt2
Dystonia, Type 10

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures	Bfie
Benign Familial Infantile Convulsion	Bfic
Bfis	Benign Familial Infantile Convulsions
Familial Benign Neonatal Epilepsy	Watanabe-Vigevano Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03919	DOC2A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DOC2A	RGD	RGD:620518
Bos taurus	DOC2A	VGNC	VGNC:28153
Felis catus	DOC2A	VGNC	VGNC:61568
Mus musculus	DOC2A	MGD	MGI:109446
Macaca mulatta	DOC2A	VGNC	VGNC:71963
Canis familiaris	DOC2A	VGNC	VGNC:40042

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