Evidence Details for PTPRN2
Basic Information Top
| Gene Symbol: | PTPRN2 ( IA-2beta,IAR,ICAAR,PTPRP ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, receptor type, N polypeptide 2 |
| Band: | 7q36.3 |
| Quick Links | Entrez ID:5799; OMIM: 601698; Uniprot ID:PTPR2_HUMAN; ENSEMBL ID: ENSG00000155093; HGNC ID: 9677 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PTPRN2|5799|nucleotide
ATGGGGCCGCCGCTCCCGCTGCTGCTGCTGCTACTGCTGCTGCTGCCGCCACGCGTCCTGCCTGCCGCCCCTTCGTCCGTCCCCCGCGGCCGGCAGCTCCCGGGG
CGTCTGGGCTGCCTGCTCGAGGAGGGCCTCTGCGGAGCGTCCGAGGCCTGTGTGAACGATGGAGTGTTTGGAAGGTGCCAGAAGGTTCCGGCAATGGACTTTTAC
CGCTACGAGGTGTCGCCCGTGGCCCTGCAGCGCCTGCGCGTGGCGTTGCAGAAGCTTTCCGGCACAGGTTTCACGTGGCAGGATGACTATACTCAGTATGTGATG
GACCAGGAACTTGCAGACCTCCCGAAAACCTACCTGAGGCGTCCTGAAGCATCCAGCCCAGCCAGGCCCTCAAAACACAGCGTTGGCAGCGAGAGGAGGTACAGT
CGGGAGGGCGGTGCTGCCCTGGCCAACGCCCTCCGACGCCACCTGCCCTTCCTGGAGGCCCTGTCCCAGGCCCCAGCCTCAGACGTGCTCGCCAGGACCCATACG
GCGCAGGACAGACCCCCCGCTGAGGGTGATGACCGCTTCTCCGAGAGCATCCTGACCTATGTGGCCCACACGTCTGCGCTGACCTACCCTCCCGGGTCCCGGACC
CAGCTCCGCGAGGACCTCCTGCCGCGGACCCTCGGCCAGCTCCAGCCAGATGAGCTCAGCCCTAAGGTGGACAGTGGTGTGGACAGACACCATCTGATGGCGGCC
CTCAGTGCCTATGCTGCCCAGAGGCCCCCAGCTCCCCCCGGGGAGGGCAGCCTGGAGCCACAGTACCTTCTGCGTGCACCCTCAAGAATGCCCAGGCCTTTGCTG
GCACCAGCCGCCCCCCAGAAGTGGCCTTCACCTCTGGGAGATTCCGAAGACCCCTCCAGCACAGGCGATGGAGCACGGATTCATACCCTCCTGAAGGACCTGCAG
AGGCAGCCGGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCATGGCTGAGCTGATGGCTGGCCTGATGCAAGGCGTGGACCATGGAGTAGCTCGAGGC
AGCCCTGGGAGAGCGGCCCTGGGAGAGTCTGGAGAACAGGCGGATGGCCCCAAGGCCACCCTCCGTGGAGACAGCTTTCCAGATGACGGAGTGCAGGACGACGAT
Show »
ATGGGGCCGCCGCTCCCGCTGCTGCTGCTGCTACTGCTGCTGCTGCCGCCACGCGTCCTGCCTGCCGCCCCTTCGTCCGTCCCCCGCGGCCGGCAGCTCCCGGGG
CGTCTGGGCTGCCTGCTCGAGGAGGGCCTCTGCGGAGCGTCCGAGGCCTGTGTGAACGATGGAGTGTTTGGAAGGTGCCAGAAGGTTCCGGCAATGGACTTTTAC
CGCTACGAGGTGTCGCCCGTGGCCCTGCAGCGCCTGCGCGTGGCGTTGCAGAAGCTTTCCGGCACAGGTTTCACGTGGCAGGATGACTATACTCAGTATGTGATG
GACCAGGAACTTGCAGACCTCCCGAAAACCTACCTGAGGCGTCCTGAAGCATCCAGCCCAGCCAGGCCCTCAAAACACAGCGTTGGCAGCGAGAGGAGGTACAGT
CGGGAGGGCGGTGCTGCCCTGGCCAACGCCCTCCGACGCCACCTGCCCTTCCTGGAGGCCCTGTCCCAGGCCCCAGCCTCAGACGTGCTCGCCAGGACCCATACG
GCGCAGGACAGACCCCCCGCTGAGGGTGATGACCGCTTCTCCGAGAGCATCCTGACCTATGTGGCCCACACGTCTGCGCTGACCTACCCTCCCGGGTCCCGGACC
CAGCTCCGCGAGGACCTCCTGCCGCGGACCCTCGGCCAGCTCCAGCCAGATGAGCTCAGCCCTAAGGTGGACAGTGGTGTGGACAGACACCATCTGATGGCGGCC
CTCAGTGCCTATGCTGCCCAGAGGCCCCCAGCTCCCCCCGGGGAGGGCAGCCTGGAGCCACAGTACCTTCTGCGTGCACCCTCAAGAATGCCCAGGCCTTTGCTG
GCACCAGCCGCCCCCCAGAAGTGGCCTTCACCTCTGGGAGATTCCGAAGACCCCTCCAGCACAGGCGATGGAGCACGGATTCATACCCTCCTGAAGGACCTGCAG
AGGCAGCCGGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCATGGCTGAGCTGATGGCTGGCCTGATGCAAGGCGTGGACCATGGAGTAGCTCGAGGC
AGCCCTGGGAGAGCGGCCCTGGGAGAGTCTGGAGAACAGGCGGATGGCCCCAAGGCCACCCTCCGTGGAGACAGCTTTCCAGATGACGGAGTGCAGGACGACGAT
Show »
>PTPRN2|5799|protein
MGPPLPLLLLLLLLLPPRVLPAAPSSVPRGRQLPGRLGCLLEEGLCGASEACVNDGVFGRCQKVPAMDFYRYEVSPVALQRLRVALQKLSGTGFTWQDDYTQYVM
DQELADLPKTYLRRPEASSPARPSKHSVGSERRYSREGGAALANALRRHLPFLEALSQAPASDVLARTHTAQDRPPAEGDDRFSESILTYVAHTSALTYPPGSRT
QLREDLLPRTLGQLQPDELSPKVDSGVDRHHLMAALSAYAAQRPPAPPGEGSLEPQYLLRAPSRMPRPLLAPAAPQKWPSPLGDSEDPSSTGDGARIHTLLKDLQ
RQPAEVRGLSGLELDGMAELMAGLMQGVDHGVARGSPGRAALGESGEQADGPKATLRGDSFPDDGVQDDDDRLYQEVHRLSATLGGLLQDHGSRLLPGALPFARP
LDMERKKSEHPESSLSSEEETAGVENVKSQTYSKDLLGQQPHSEPGAAAFGELQNQMPGPSKEEQSLPAGAQEALSDGLQLEVQPSEEEARGYIVTDRDPLRPEE
Show »
MGPPLPLLLLLLLLLPPRVLPAAPSSVPRGRQLPGRLGCLLEEGLCGASEACVNDGVFGRCQKVPAMDFYRYEVSPVALQRLRVALQKLSGTGFTWQDDYTQYVM
DQELADLPKTYLRRPEASSPARPSKHSVGSERRYSREGGAALANALRRHLPFLEALSQAPASDVLARTHTAQDRPPAEGDDRFSESILTYVAHTSALTYPPGSRT
QLREDLLPRTLGQLQPDELSPKVDSGVDRHHLMAALSAYAAQRPPAPPGEGSLEPQYLLRAPSRMPRPLLAPAAPQKWPSPLGDSEDPSSTGDGARIHTLLKDLQ
RQPAEVRGLSGLELDGMAELMAGLMQGVDHGVARGSPGRAALGESGEQADGPKATLRGDSFPDDGVQDDDDRLYQEVHRLSATLGGLLQDHGSRLLPGALPFARP
LDMERKKSEHPESSLSSEEETAGVENVKSQTYSKDLLGQQPHSEPGAAAFGELQNQMPGPSKEEQSLPAGAQEALSDGLQLEVQPSEEEARGYIVTDRDPLRPEE
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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow 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 |
|---|---|---|---|---|
| Chen R, 2017 | 107 | 116 | 128 | Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut |
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.