2. Gene
  3. MCTP2 - multiple C2 and transmembrane domain containing 2 Gene

MCTP2 - multiple C2 and transmembrane domain containing 2 Gene

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

中文名称：含多个 C2 和跨膜域 2

种属: Homo sapiens

基因 ID: 55784 | 基因类型: protein coding

关于 MCTP2

Cytogenetic location: 15q26.2 Genomic coordinates (GRCh38): 15:94,231,366-94,483,952 (from NCBI)

This gene has 9 transcripts (splice variants), 273 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in spleen (RPKM 5.6), placenta (RPKM 4.8) and 21 other tissues.

功能概要

启用钙离子结合活性。预计参与调节神经递质分泌。位于细胞质和核质中。是膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables calcium ion binding activity. Predicted to be involved in regulation of neurotransmitter secretion. Located in cytosol and nucleoplasm. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

MCTP2 基因产物(14)

mRNA Protein Name
NM_001159643.2 NP_001153115.1 multiple C2 and transmembrane domain-containing protein 2 isoform 2
NM_001159644.2 NP_001153116.1 multiple C2 and transmembrane domain-containing protein 2 isoform 3
NM_001385001.1 NP_001371930.1 multiple C2 and transmembrane domain-containing protein 2 isoform 1
NM_001385002.1 NP_001371931.1 multiple C2 and transmembrane domain-containing protein 2 isoform 1
NM_001385003.1 NP_001371932.1 multiple C2 and transmembrane domain-containing protein 2 isoform 1
NM_001385004.1 NP_001371933.1 multiple C2 and transmembrane domain-containing protein 2 isoform 2
NM_001385005.1 NP_001371934.1 multiple C2 and transmembrane domain-containing protein 2 isoform 4
NM_001385006.1 NP_001371935.1 multiple C2 and transmembrane domain-containing protein 2 isoform 5
NM_001385007.1 NP_001371936.1 multiple C2 and transmembrane domain-containing protein 2 isoform 6
NM_001385008.1 NP_001371937.1 multiple C2 and transmembrane domain-containing protein 2 isoform 7
NM_001385009.1 NP_001371938.1 multiple C2 and transmembrane domain-containing protein 2 isoform 8
NM_001385010.1 NP_001371939.1 multiple C2 and transmembrane domain-containing protein 2 isoform 9
NM_001385011.1 NP_001371940.1 multiple C2 and transmembrane domain-containing protein 2 isoform 10
NM_018349.4 NP_060819.3 multiple C2 and transmembrane domain-containing protein 2 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
15528213 GOA
NOT enables calcium-dependent phospholipid binding IDA
IDA: 通过直接分析推断
15528213 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
15528213 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MCTP2 蛋白结构

C2

C2: C2 domain (196 - 275)

C2

C2: C2 domain (360 - 436)

C2

C2: C2 domain (511 - 590)

PRT_C

PRT_C: Plant phosphoribosyltransferase C-terminal (731 - 854)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 878 a.a.
蛋白主名 其他名称

multiple C2 and transmembrane domain-containing protein 2

multiple C2 domains, transmembrane 2

关联疾病

疾病名称 别名
Chromosome 15q26-Qter Deletion Syndrome

Drayer Syndrome

15q26 Deletion Syndrome

Distal 15q Deletion Syndrome

Distal Monosomy 15q

Telomeric 15q Deletion Syndrome

Monosomy 15q26
Mitral Atresia

Mitral Atresia Disorder
Bardet-Biedl Syndrome 12

BBS12

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 12
Cerebellar Ataxia Type 9

Sca9
Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect
Subacute Bacterial Endocarditis

Endocarditis Lenta

Sbe - Subacute Bacterial Endocarditis

Subacute Endocarditis, Lenta

Endocarditis, Subacute Bacterial
Hypoplastic Left Heart Syndrome

Hlhs

Heart, Hypoplastic Left, Syndrome

Hypoplasia Of The Left Heart

Left Heart Hypoplasia Syndrome

Hlhs - [Hypoplastic Left Heart Syndrome]

Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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-RS08250 MCTP2 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 MCTP2 RGD RGD:1562967
Macaca mulatta MCTP2 VGNC VGNC:74579
Felis catus MCTP2 VGNC VGNC:63420
Bos taurus MCTP2 VGNC VGNC:31324
Canis familiaris MCTP2 VGNC VGNC:43095
Mus musculus MCTP2 MGD MGI:2685335
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