Evidence Details for CTNNA2
Basic Information Top
| Gene Symbol: | CTNNA2 ( CAP-R,CAPR,CT114,CTNR,DKFZp686H02198 ) |
|---|---|
| Gene Full Name: | catenin (cadherin-associated protein), alpha 2 |
| Band: | 2p12 |
| Quick Links | Entrez ID:1496; OMIM: 114025; Uniprot ID:CTNA2_HUMAN; ENSEMBL ID: ENSG00000066032; HGNC ID: 2510 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CTNNA2|1496|nucleotide
ATGACTTCGGCAACTTCACCTATCATTCTGAAATGGGACCCCAAAAGTTTGGAAATCCGGACGCTAACAGTGGAAAGGCTGTTGGAGCCACTTGTTACACAGGTG
ACTACACTTGTCAACACAAGCAACAAAGGCCCATCTGGTAAAAAGAAAGGGAGGTCAAAGAAAGCCCATGTACTAGCTGCCTCTGTAGAGCAAGCCACTCAGAAT
TTCCTGGAAAAGGGTGAACAGATCGCTAAGGAGAGTCAAGATCTCAAAGAAGAGTTGGTGGCTGCTGTAGAGGATGTGCGCAAACAAGGTGAGACGATGCGGATC
GCCTCCTCCGAGTTTGCAGATGACCCTTGCTCGTCGGTAAAGCGCGGCACCATGGTACGGGCGGCAAGGGCTTTGCTCTCCGCGGTGACACGCTTACTCATCCTG
GCGGACATGGCAGATGTCATGAGACTTTTATCCCATCTGAAAATTGTGGAAGAGGCCCTGGAAGCTGTCAAAAATGCTACAAATGAGCAAGACCTTGCAAACCGT
TTTAAAGAGTTTGGGAAAGAGATGGTGAAACTTAACTATGTAGCAGCAAGAAGACAACAGGAGCTGAAGGATCCTCACTGTCGGGATGAGATGGCAGCCGCCCGA
GGGGCTCTGAAGAAGAATGCCACAATGCTGTACACGGCCTCTCAAGCATTTCTCCGCCACCCAGATGTCGCCGCTACGAGAGCCAACCGAGATTATGTGTTCAAA
CAAGTCCAGGAGGCCATCGCCGGCATCTCCAATGCTGCTCAAGCTACCTCGCCCACTGACGAAGCCAAGGGCCACACGGGCATCGGCGAGCTGGCTGCGGCTCTT
AATGAGTTTGACAATAAGATTATCCTGGACCCCATGACGTTCAGCGAGGCCAGGTTCCGGCCGTCCCTGGAGGAGAGGCTGGAGAGCATCATCAGCGGCGCAGCG
CTGATGGCCGACTCCTCCTGCACGCGAGACGACCGGCGCGAGAGGATCGTGGCGGAGTGCAACGCCGTGCGGCAGGCGCTCCAGGACCTGCTCAGCGAGTACATG
AATAATACTGGAAGGAAAGAAAAAGGAGATCCTCTCAACATTGCGATTGATAAGATGACTAAGAAAACAAGAGATCTAAGGAGACAGCTTCGGAAAGCAGTGATG
Show »
ATGACTTCGGCAACTTCACCTATCATTCTGAAATGGGACCCCAAAAGTTTGGAAATCCGGACGCTAACAGTGGAAAGGCTGTTGGAGCCACTTGTTACACAGGTG
ACTACACTTGTCAACACAAGCAACAAAGGCCCATCTGGTAAAAAGAAAGGGAGGTCAAAGAAAGCCCATGTACTAGCTGCCTCTGTAGAGCAAGCCACTCAGAAT
TTCCTGGAAAAGGGTGAACAGATCGCTAAGGAGAGTCAAGATCTCAAAGAAGAGTTGGTGGCTGCTGTAGAGGATGTGCGCAAACAAGGTGAGACGATGCGGATC
GCCTCCTCCGAGTTTGCAGATGACCCTTGCTCGTCGGTAAAGCGCGGCACCATGGTACGGGCGGCAAGGGCTTTGCTCTCCGCGGTGACACGCTTACTCATCCTG
GCGGACATGGCAGATGTCATGAGACTTTTATCCCATCTGAAAATTGTGGAAGAGGCCCTGGAAGCTGTCAAAAATGCTACAAATGAGCAAGACCTTGCAAACCGT
TTTAAAGAGTTTGGGAAAGAGATGGTGAAACTTAACTATGTAGCAGCAAGAAGACAACAGGAGCTGAAGGATCCTCACTGTCGGGATGAGATGGCAGCCGCCCGA
GGGGCTCTGAAGAAGAATGCCACAATGCTGTACACGGCCTCTCAAGCATTTCTCCGCCACCCAGATGTCGCCGCTACGAGAGCCAACCGAGATTATGTGTTCAAA
CAAGTCCAGGAGGCCATCGCCGGCATCTCCAATGCTGCTCAAGCTACCTCGCCCACTGACGAAGCCAAGGGCCACACGGGCATCGGCGAGCTGGCTGCGGCTCTT
AATGAGTTTGACAATAAGATTATCCTGGACCCCATGACGTTCAGCGAGGCCAGGTTCCGGCCGTCCCTGGAGGAGAGGCTGGAGAGCATCATCAGCGGCGCAGCG
CTGATGGCCGACTCCTCCTGCACGCGAGACGACCGGCGCGAGAGGATCGTGGCGGAGTGCAACGCCGTGCGGCAGGCGCTCCAGGACCTGCTCAGCGAGTACATG
AATAATACTGGAAGGAAAGAAAAAGGAGATCCTCTCAACATTGCGATTGATAAGATGACTAAGAAAACAAGAGATCTAAGGAGACAGCTTCGGAAAGCAGTGATG
Show »
>CTNNA2|1496|protein
MTSATSPIILKWDPKSLEIRTLTVERLLEPLVTQVTTLVNTSNKGPSGKKKGRSKKAHVLAASVEQATQNFLEKGEQIAKESQDLKEELVAAVEDVRKQGETMRI
ASSEFADDPCSSVKRGTMVRAARALLSAVTRLLILADMADVMRLLSHLKIVEEALEAVKNATNEQDLANRFKEFGKEMVKLNYVAARRQQELKDPHCRDEMAAAR
GALKKNATMLYTASQAFLRHPDVAATRANRDYVFKQVQEAIAGISNAAQATSPTDEAKGHTGIGELAAALNEFDNKIILDPMTFSEARFRPSLEERLESIISGAA
LMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMNNTGRKEKGDPLNIAIDKMTKKTRDLRRQLRKAVMDHISDSFLETNVPLLVLIEAAKSGNEKEVKEYAQV
FREHANKLVEVANLACSISNNEEGVKLVRMAATQIDSLCPQVINAALTLAARPQSKVAQDNMDVFKDQWEKQVRVLTEAVDDITSVDDFLSVSENHILEDVNKCV
Show »
MTSATSPIILKWDPKSLEIRTLTVERLLEPLVTQVTTLVNTSNKGPSGKKKGRSKKAHVLAASVEQATQNFLEKGEQIAKESQDLKEELVAAVEDVRKQGETMRI
ASSEFADDPCSSVKRGTMVRAARALLSAVTRLLILADMADVMRLLSHLKIVEEALEAVKNATNEQDLANRFKEFGKEMVKLNYVAARRQQELKDPHCRDEMAAAR
GALKKNATMLYTASQAFLRHPDVAATRANRDYVFKQVQEAIAGISNAAQATSPTDEAKGHTGIGELAAALNEFDNKIILDPMTFSEARFRPSLEERLESIISGAA
LMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMNNTGRKEKGDPLNIAIDKMTKKTRDLRRQLRKAVMDHISDSFLETNVPLLVLIEAAKSGNEKEVKEYAQV
FREHANKLVEVANLACSISNNEEGVKLVRMAATQIDSLCPQVINAALTLAARPQSKVAQDNMDVFKDQWEKQVRVLTEAVDDITSVDDFLSVSENHILEDVNKCV
Show »
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 | 1 (2) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 6 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | ASD | - - |
- - | ||
| 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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS 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.