DOC2A - double C2 domain alpha Gene

Also Known as Doc2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8448

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

C2

C2: C2 domain (106 - 194)

C2

C2: C2 domain (268 - 355)

  • 0
  • 100
  • 200
  • 300
  • 400 a.a.
Protein Preferred Names Protein Names

double C2-like domain-containing protein alpha

  • doc2-alpha

DOC2A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Anti Tag CoIP
28514442
Intra
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Validated Y2H
32296183
Intra
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Y2H Array
24722188
Intra
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03919 DOC2A Human Pre-designed siRNA Set A Pre-designed Set / 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
Others DOC2A NCBI