Evidence Details for MCTP2
Basic Information Top
| Gene Symbol: | MCTP2 ( FLJ11175,FLJ33303,MGC111402 ) |
|---|---|
| Gene Full Name: | multiple C2 domains, transmembrane 2 |
| Band: | 15q26.2 |
| Quick Links | Entrez ID:55784; OMIM: NA; Uniprot ID:MCTP2_HUMAN; ENSEMBL ID: ENSG00000140563; HGNC ID: 25636 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MCTP2|55784|nucleotide
ATGGATCTGGATAAACCATCTGTTTGGGGCTCATTAAAACAGCGGACCAGGCCATTGTTGATCAACTTGAGCAAGAAGAAGGTGAAAAAGAACCCAAGTAAGCCC
CCAGATCTACGGGCAAGGCATCACTTGGACCGCCGTCTCAGCCTCTCTGTGCCTGATCTCCTGGAGGCTGAGGCCTTGGCCCCAGAGGGCCGGCCTTACTCCGGG
CCACAGTCTTCCTACACCTCGGTGCCCAGCAGTCTGTCCACTGCAGGGATCTTTCCCAAGAGCAGCAGTAGCTCCTTGAAACAGTCTGAAGAAGAATTGGATTGG
AGCCAGGAAGAAGCCAGTCACCTCCATGTGGTGGAAACAGACTCAGAGGAGGCCTATGCCTCTCCTGCTGAGCGGAGACGGGTGTCCAGCAACGGCATCTTTGAT
CTTCAGAAAACTTCCCTTGGAGGGGATGCACCAGAAGAGCCAGAGAAGCTATGTGGAAGCAGTGACCTGAATGCTTCTATGACATCTCAACATTTTGAAGAACAA
TCTGTACCGGGGGAAGCCAGTGATGGCTTGAGTAACCTCCCCAGCCCTTTTGCGTACCTCCTCACCATACACCTGAAGGAAGGCCGGAACCTGGTTGTCCGAGAT
CGCTGTGGCACAAGTGATCCTTATGTGAAATTTAAGCTGAATGGGAAGACGCTGTACAAAAGTAAAGTCATATATAAGAACTTGAACCCAGTATGGGATGAGATA
GTTGTATTGCCAATCCAAAGCCTTGATCAAAAGCTACGTGTGAAGGTATATGATCGAGATTTAACCACATCTGATTTCATGGGTTCTGCATTTGTCATTCTCAGT
GATCTTGAGCTTAACAGAACAACTGAACATATTTTAAAACTGGAAGATCCAAACAGTTTAGAAGATGACATGGGAGTGATCGTGTTAAATTTGAACCTAGTGGTA
AAACAGGGTGATTTCAAGAGACACCGTTGGTCAAATCGGAAGCGATTAAGTGCCAGCAAGTCCTCTTTGATACGCAACCTACGGCTCTCTGAGTCCTTGAAAAAG
AACCAACTCTGGAACGGGATTATAAGTATAACTTTGTTGGAAGGGAAGAATGTCTCAGGAGGAAGCATGACAGAGATGTTTGTCCAGTTAAAACTGGGAGATCAG
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ATGGATCTGGATAAACCATCTGTTTGGGGCTCATTAAAACAGCGGACCAGGCCATTGTTGATCAACTTGAGCAAGAAGAAGGTGAAAAAGAACCCAAGTAAGCCC
CCAGATCTACGGGCAAGGCATCACTTGGACCGCCGTCTCAGCCTCTCTGTGCCTGATCTCCTGGAGGCTGAGGCCTTGGCCCCAGAGGGCCGGCCTTACTCCGGG
CCACAGTCTTCCTACACCTCGGTGCCCAGCAGTCTGTCCACTGCAGGGATCTTTCCCAAGAGCAGCAGTAGCTCCTTGAAACAGTCTGAAGAAGAATTGGATTGG
AGCCAGGAAGAAGCCAGTCACCTCCATGTGGTGGAAACAGACTCAGAGGAGGCCTATGCCTCTCCTGCTGAGCGGAGACGGGTGTCCAGCAACGGCATCTTTGAT
CTTCAGAAAACTTCCCTTGGAGGGGATGCACCAGAAGAGCCAGAGAAGCTATGTGGAAGCAGTGACCTGAATGCTTCTATGACATCTCAACATTTTGAAGAACAA
TCTGTACCGGGGGAAGCCAGTGATGGCTTGAGTAACCTCCCCAGCCCTTTTGCGTACCTCCTCACCATACACCTGAAGGAAGGCCGGAACCTGGTTGTCCGAGAT
CGCTGTGGCACAAGTGATCCTTATGTGAAATTTAAGCTGAATGGGAAGACGCTGTACAAAAGTAAAGTCATATATAAGAACTTGAACCCAGTATGGGATGAGATA
GTTGTATTGCCAATCCAAAGCCTTGATCAAAAGCTACGTGTGAAGGTATATGATCGAGATTTAACCACATCTGATTTCATGGGTTCTGCATTTGTCATTCTCAGT
GATCTTGAGCTTAACAGAACAACTGAACATATTTTAAAACTGGAAGATCCAAACAGTTTAGAAGATGACATGGGAGTGATCGTGTTAAATTTGAACCTAGTGGTA
AAACAGGGTGATTTCAAGAGACACCGTTGGTCAAATCGGAAGCGATTAAGTGCCAGCAAGTCCTCTTTGATACGCAACCTACGGCTCTCTGAGTCCTTGAAAAAG
AACCAACTCTGGAACGGGATTATAAGTATAACTTTGTTGGAAGGGAAGAATGTCTCAGGAGGAAGCATGACAGAGATGTTTGTCCAGTTAAAACTGGGAGATCAG
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>MCTP2|55784|protein
MDLDKPSVWGSLKQRTRPLLINLSKKKVKKNPSKPPDLRARHHLDRRLSLSVPDLLEAEALAPEGRPYSGPQSSYTSVPSSLSTAGIFPKSSSSSLKQSEEELDW
SQEEASHLHVVETDSEEAYASPAERRRVSSNGIFDLQKTSLGGDAPEEPEKLCGSSDLNASMTSQHFEEQSVPGEASDGLSNLPSPFAYLLTIHLKEGRNLVVRD
RCGTSDPYVKFKLNGKTLYKSKVIYKNLNPVWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILSDLELNRTTEHILKLEDPNSLEDDMGVIVLNLNLVV
KQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKKNQLWNGIISITLLEGKNVSGGSMTEMFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEV
WGKDNKKHEERLGTCKVDISALPLKQANCLELPLDSCLGALLMLVTLTPCAGVSVSDLCVCPLADLSERKQITQRYCLQNSLKDVKDVGILQVKVLKAADLLAAD
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MDLDKPSVWGSLKQRTRPLLINLSKKKVKKNPSKPPDLRARHHLDRRLSLSVPDLLEAEALAPEGRPYSGPQSSYTSVPSSLSTAGIFPKSSSSSLKQSEEELDW
SQEEASHLHVVETDSEEAYASPAERRRVSSNGIFDLQKTSLGGDAPEEPEKLCGSSDLNASMTSQHFEEQSVPGEASDGLSNLPSPFAYLLTIHLKEGRNLVVRD
RCGTSDPYVKFKLNGKTLYKSKVIYKNLNPVWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILSDLELNRTTEHILKLEDPNSLEDDMGVIVLNLNLVV
KQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKKNQLWNGIISITLLEGKNVSGGSMTEMFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEV
WGKDNKKHEERLGTCKVDISALPLKQANCLELPLDSCLGALLMLVTLTPCAGVSVSDLCVCPLADLSERKQITQRYCLQNSLKDVKDVGILQVKVLKAADLLAAD
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (1) | 1 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bonati, 2005 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen | | | autism | 222 | - | 222 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.