2. Gene
  3. DOC2A - double C2 domain alpha Gene

DOC2A - double C2 domain alpha Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：双 C2 结构域 alpha

种属: Homo sapiens

同用名: Doc2

基因 ID: 8448 | 基因类型: protein coding

关于 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.

功能概要

Double C2 蛋白至少有两种蛋白质亚型，即 alpha (DOC2A) 和 beta (DOC2B) ，它们包含两个 C2 样结构域。 DOC2A 和 DOC2B 由不同的基因编码；这些基因有时会与最初命名为 DOC-2 的不相关的 DAB2 基因相混淆。 DOC2A 主要在大脑中表达，并被认为参与 CA (2+) 依赖性神经递质释放。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 8 月]

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 基因产物(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 蛋白结构

C2

C2: C2 domain (106 - 194)

C2

C2: C2 domain (268 - 355)

  • 0
  • 100
  • 200
  • 300
  • 400 a.a.
蛋白主名 其他名称

double C2-like domain-containing protein alpha

doc2-alpha

DOC2A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Anti Tag CoIP
28514442
种属内
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Validated Y2H
32296183
种属内
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Y2H Array
24722188
种属内
DOC2A Q14183 UBASH3B Homo sapiens Q8TF42
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03919 DOC2A Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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