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MCTP2 multiple C2 and transmembrane domain containing 2 [ Homo sapiens (human) ]

Gene ID: 55784, updated on 17-Jun-2019

Summary

Official Symbol
MCTP2provided by HGNC
Official Full Name
multiple C2 and transmembrane domain containing 2provided by HGNC
Primary source
HGNC:HGNC:25636
See related
Ensembl:ENSG00000140563 MIM:616297
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Broad expression in spleen (RPKM 5.6), placenta (RPKM 4.8) and 21 other tissues See more
Orthologs

Genomic context

See MCTP2 in Genome Data Viewer
Location:
15q26.2
Exon count:
31
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (94231538..94483952)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (94774772..95027181)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1581 Neighboring gene uncharacterized LOC105369203 Neighboring gene uncharacterized LOC105370984 Neighboring gene ribosomal protein L26 pseudogene 5 Neighboring gene long intergenic non-protein coding RNA 2852 Neighboring gene uncharacterized LOC105370986

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests.
NHGRI GWA Catalog
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
NHGRI GWA Catalog
Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
NHGRI GWA Catalog
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
NHGRI GWA Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
NHGRI GWA Catalog
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.
NHGRI GWA Catalog
New susceptibility loci associated with kidney disease in type 1 diabetes.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11175, FLJ33303, MGC111402

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
calcium-mediated signaling NAS
Non-traceable Author Statement
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
multiple C2 and transmembrane domain-containing protein 2
Names
multiple C2 domains, transmembrane 2
multiple C2-domains with two transmembrane regions 2 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001159643.1NP_001153115.1  multiple C2 and transmembrane domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001153115.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) is lacking two consecutive in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC103749, AC135626, AK026984, AL697863, AL832048, BC041387, BC131527, BP292512, DA450908
    Consensus CDS
    CCDS53975.1
    UniProtKB/Swiss-Prot
    Q6DN12
    Related
    ENSP00000395109.3, ENST00000451018.7
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:716769
    PRT_C; Plant phosphoribosyltransferase C-terminal
  2. NM_001159644.2NP_001153116.1  multiple C2 and transmembrane domain-containing protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001153116.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate segment at the 5' end, and an alternate exon at the 3' end (causing a frame-shift) compared to variant 1. This results in translation initiation from a downstream start codon and a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC103749, BC025708, DA862691
    Consensus CDS
    CCDS53976.1
    UniProtKB/Swiss-Prot
    Q6DN12
    Related
    ENSP00000454847.1, ENST00000557742.1
    Conserved Domains (2) summary
    cd08377
    Location:97215
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cl14603
    Location:157
    C2; C2 domain
  3. NM_018349.3NP_060819.3  multiple C2 and transmembrane domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_060819.3

    Status: VALIDATED

    Source sequence(s)
    AC103749, AC135626, AK026984, AL697863, AL832048, AY656717, BC041387, BC131527, BP292512, DA450908
    Consensus CDS
    CCDS32338.1
    UniProtKB/Swiss-Prot
    Q6DN12
    Related
    ENSP00000350377.4, ENST00000357742.9
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:771824
    PRT_C; Plant phosphoribosyltransferase C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    94231538..94483952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720603.2XP_006720666.1  multiple C2 and transmembrane domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_006720666.1

    UniProtKB/Swiss-Prot
    Q6DN12
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:771824
    PRT_C; Plant phosphoribosyltransferase C-terminal
  2. XM_024449982.1XP_024305750.1  multiple C2 and transmembrane domain-containing protein 2 isoform X7

    Conserved Domains (4) summary
    cd04042
    Location:101220
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:263375
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:415533
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:677730
    PRT_C; Plant phosphoribosyltransferase C-terminal
  3. XM_005254955.4XP_005255012.1  multiple C2 and transmembrane domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_005255012.1

    UniProtKB/Swiss-Prot
    Q6DN12
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:771824
    PRT_C; Plant phosphoribosyltransferase C-terminal
  4. XM_017022405.1XP_016877894.1  multiple C2 and transmembrane domain-containing protein 2 isoform X5

    UniProtKB/Swiss-Prot
    Q6DN12
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:716769
    PRT_C; Plant phosphoribosyltransferase C-terminal
  5. XM_011521771.2XP_011520073.1  multiple C2 and transmembrane domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011520073.1

    UniProtKB/Swiss-Prot
    Q6DN12
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:771824
    PRT_C; Plant phosphoribosyltransferase C-terminal
  6. XM_017022404.1XP_016877893.1  multiple C2 and transmembrane domain-containing protein 2 isoform X5

    UniProtKB/Swiss-Prot
    Q6DN12
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:716769
    PRT_C; Plant phosphoribosyltransferase C-terminal
  7. XM_011521772.2XP_011520074.1  multiple C2 and transmembrane domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011520074.1

    UniProtKB/Swiss-Prot
    Q6DN12
    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:771824
    PRT_C; Plant phosphoribosyltransferase C-terminal
  8. XM_011521770.1XP_011520072.1  multiple C2 and transmembrane domain-containing protein 2 isoform X2

    Conserved Domains (4) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:730783
    PRT_C; Plant phosphoribosyltransferase C-terminal
  9. XM_017022403.1XP_016877892.1  multiple C2 and transmembrane domain-containing protein 2 isoform X1

  10. XM_011521773.2XP_011520075.1  multiple C2 and transmembrane domain-containing protein 2 isoform X4

    Conserved Domains (3) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
  11. XM_011521774.2XP_011520076.1  multiple C2 and transmembrane domain-containing protein 2 isoform X6

    Conserved Domains (3) summary
    cd04042
    Location:195314
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:357469
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:509627
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
  12. XM_011521775.2XP_011520077.1  multiple C2 and transmembrane domain-containing protein 2 isoform X8

    Conserved Domains (3) summary
    cd08376
    Location:197
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:137255
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:399452
    PRT_C; Plant phosphoribosyltransferase C-terminal
  13. XM_005254960.2XP_005255017.1  multiple C2 and transmembrane domain-containing protein 2 isoform X9

    See identical proteins and their annotated locations for XP_005255017.1

    UniProtKB/Swiss-Prot
    Q6DN12
    Conserved Domains (3) summary
    cd08377
    Location:97215
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:359412
    PRT_C; Plant phosphoribosyltransferase C-terminal
    cl14603
    Location:157
    C2; C2 domain

RNA

  1. XR_931865.2 RNA Sequence

  2. XR_001751349.2 RNA Sequence

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