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MCTP2 - multiple C2 and transmembrane domain containing 2 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55784

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	15528213	GOA
NOT enables calcium-dependent phospholipid binding	IDA IDA: Inferred from direct assay	15528213	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	15528213	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCTP2 Protein Structure

PRT_C

0
200
400
600
800
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

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 Set	/	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