2. Gene
  3. CADPS2 - calcium dependent secretion activator 2 Gene

CADPS2 - calcium dependent secretion activator 2 Gene

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

中文名称：钙依赖性分泌激活因子 2

种属: Homo sapiens

同用名: CAPS2

基因 ID: 93664 | 基因类型: protein coding

关于 CADPS2

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:122,318,411-122,886,460 (from NCBI)

This gene has 6 transcripts (splice variants) and 217 orthologues. Ubiquitous expression in kidney (RPKM 9.9), brain (RPKM 7.6) and 23 other tissues.

功能概要

该基因编码钙依赖性分泌激活因子 (CAPS) 蛋白家族的成员，CAPS 是钙结合蛋白，可调节神经元和神经内分泌细胞中突触和致密核心囊泡的胞吐作用。该基因的突变可能导致自闭症易感性。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 11 月]

This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

CADPS2 基因产物(15)

mRNA Protein Name
NM_001009571.4 NP_001009571.2 calcium-dependent secretion activator 2 isoform b
NM_001167940.2 NP_001161412.1 calcium-dependent secretion activator 2 isoform c
NM_001363389.2 NP_001350318.1 calcium-dependent secretion activator 2 isoform d
NM_001363390.2 NP_001350319.1 calcium-dependent secretion activator 2 isoform e
NM_001363391.2 NP_001350320.1 calcium-dependent secretion activator 2 isoform f
NM_001363392.2 NP_001350321.1 calcium-dependent secretion activator 2 isoform g
NM_001363393.2 NP_001350322.1 calcium-dependent secretion activator 2 isoform h
NM_001363394.2 NP_001350323.1 calcium-dependent secretion activator 2 isoform i
NM_001363395.2 NP_001350324.1 calcium-dependent secretion activator 2 isoform j
NM_001363396.2 NP_001350325.1 calcium-dependent secretion activator 2 isoform k
NM_001363397.2 NP_001350326.1 calcium-dependent secretion activator 2 isoform l
NM_001363398.2 NP_001350327.1 calcium-dependent secretion activator 2 isoform m
NM_001363399.2 NP_001350328.1 calcium-dependent secretion activator 2 isoform n
NM_001363400.2 NP_001350329.1 calcium-dependent secretion activator 2 isoform o
NM_017954.11 NP_060424.9 calcium-dependent secretion activator 2 isoform a

CADPS2 蛋白结构

PH

PH: PH domain (489 - 588)

DUF1041

DUF1041: Domain of Unknown Function (DUF1041) (800 - 894)

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  • 1296 a.a.
蛋白主名 其他名称

calcium-dependent secretion activator 2

CAPS-2

关联疾病

疾病名称 别名
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Intellectual Developmental Disorder, X-Linked 108

MRX108

X-Linked Intellectual Developmental Disorder 108

Mental Retardation, X-Linked 108

Mental Retardation, X-Linked, Type 108
Mullegama-Klein-Martinez Syndrome

MKMS

Nedxcf

Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities

X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities
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-RS01824 CADPS2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CADPS2 VGNC VGNC:38659
Bos taurus CADPS2 VGNC VGNC:26699
Macaca mulatta CADPS2 VGNC VGNC:70564
Rattus norvegicus CADPS2 RGD RGD:1559440
Felis catus CADPS2 VGNC VGNC:60316
Mus musculus CADPS2 MGD MGI:2443963
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