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

MCTP2 - multiple C2 and transmembrane domain containing 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 55784 | Gene type: protein coding

About 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.

Summary

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 Products(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

MCTP2 Protein Structure

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)

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  • 878 a.a.
Protein Preferred Names Protein Names

multiple C2 and transmembrane domain-containing protein 2

multiple C2 domains, transmembrane 2

Related Diseases

Diseases Alias
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
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-RS08250 MCTP2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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