MCTP2
entrez
55784
canonical
uniprot
Q6DN12
canonical
ensembl
ENSG00000140563
resolver
ensp
ENSP00000350377
resolver
ensp
ENSP00000395109
resolver
ensp
ENSP00000454847
resolver
ensp
ENSP00000578570
resolver
ensp
ENSP00000578571
resolver
ensp
ENSP00000578573
resolver
ensp
ENSP00000578574
resolver
ensp
ENSP00000671917
resolver
ensp
ENSP00000796724
resolver
genesymbol
MCTP2
resolver
hgnc
HGNC:25636
resolver
uniprot
A2RRC2
resolver
uniprot
C6G483
resolver
uniprot
C6G484
resolver
uniprot
Q49AB0
resolver
uniprot
Q8TAX2
resolver
uniprot
Q9NUS2
resolver
uniprot
Q9NUW7
resolver
uniprot_entry
MCTP2_HUMAN
resolver
uniprot_sec
A2RRC2
resolver
uniprot_sec
C6G483
resolver
uniprot_sec
C6G484
resolver
uniprot_sec
Q49AB0
resolver
uniprot_sec
Q8TAX2
resolver
uniprot_sec
Q9NUS2
resolver
uniprot_sec
Q9NUW7
resolver
amino_acid_sequence
MDLDKPSVWGSLKQRTRPLLINLSKKKVKKNPSKPPDLRARHHLDRRLSLSVPDLLEAEALAPEGRPYSGPQSSYTSVPSSLSTAGIFPKSSSSSLKQSEEELDWSQEEASHLHVVETDSEEAYASPAERRRVSSNGIFDLQKTSLGGDAPEEPEKLCGSSDLNASMTSQHFEEQSVPGEASDGLSNLPSPFAYLLTIHLKEGRNLVVRDRCGTSDPYVKFKLNGKTLYKSKVIYKNLNPVWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILSDLELNRTTEHILKLEDPNSLEDDMGVIVLNLNLVVKQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKKNQLWNGIISITLLEGKNVSGGSMTEMFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEVWGKDNKKHEERLGTCKVDISALPLKQANCLELPLDSCLGALLMLVTLTPCAGVSVSDLCVCPLADLSERKQITQRYCLQNSLKDVKDVGILQVKVLKAADLLAADFSGKSDPFCLLELGNDRLQTHTVYKNLNPEWNKVFTFPIKDIHDVLEVTVFDEDGDKPPDFLGKVAIPLLSIRDGQPNCYVLKNKDLEQAFKGVIYLEMDLIYNPVKASIRTFTPREKRFVEDSRKLSKKILSRDVDRVKRITMAIWNTMQFLKSCFQWESTLRSTIAFAVFLITVWNFELYMIPLALLLIFVYNFIRPVKGKVSSIQDSQESTDIDDEEDEDDKESEKKGLIERIYMVQDIVSTVQNVLEEIASFGERIKNTFNWTVPFLSSLACLILAAATIILYFIPLRYIILIWGINKFTKKLRNPYSIDNNELLDFLSRVPSDVQKVQYAELKLCSSHSPLRKKRSAL
uniprot
proteins
disease_involvement
DISEASE: Note=Heterozygosity for a 2.2-Mb deletion at chromosome 15q26.2, encompassing MCTP2, has been identified in a 10-year-old girl and her 3-year-old half brother, who had both coarctation of the aorta associated with dysmorphic features and ventricular septal defects. An intragenic MCTP2 duplication, leading to premature truncation (F697X) within the first transmembrane region of the protein, has also been observed in a male patient with a non-syndromic complex cardiac malformation involving coarctation, hypoplastic left heart, mitral atresia, bicuspid aortic valve and muscular ventricular septal defect. Although the link between left ventricular outflow tract malformations and MCTP2 could not be established, it has been proposed that defects in the MCTP2 gene may contribute to phenotype. This hypothesis is supported by the observation that Xenopus laevis embryos treated with MCTP2 morpholinos show no evidence of endocardial cushion formation at any level of the developing outflow tract (PubMed:23773997). {ECO:0000269|PubMed:23773997}.
uniprot
proteins
function
FUNCTION: Might play a role in the development of cardiac outflow tract. {ECO:0000269|PubMed:23773997}.
uniprot
proteins
mass_dalton
99596
uniprot
proteins
protein_family
MCTP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15528213
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23773997
uniprot
proteins
sequence_length
878
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 697..717; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 802..822; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins