Evidence Details for PCSK2
Basic Information Top
| Gene Symbol: | PCSK2 ( NEC2,PC2,SPC2 ) |
|---|---|
| Gene Full Name: | proprotein convertase subtilisin/kexin type 2 |
| Band: | 20p12.1 |
| Quick Links | Entrez ID:5126; OMIM: 162151; Uniprot ID:NEC2_HUMAN; ENSEMBL ID: ENSG00000125851; HGNC ID: 8744 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PCSK2|5126|nucleotide
ATGGTTTTTGCATCTGCTGAGCGACCGGTCTTCACGAATCATTTTCTTGTGGAGTTGCATAAAGGGGGAGAGGACAAAGCTCGCCAAGTTGCAGCAGAACACGGC
TTTGGAGTCCGAAAGCTTCCCTTTGCTGAAGGTCTGTACCACTTTTATCACAATGGCCTTGCAAAGGCCAAGAGAAGACGCAGCCTACACCACAAGCAGCAGCTG
GAGAGAGACCCCAGGGTAAAGATGGCTTTGCAGCAGGAAGGATTTGACCGAAAAAAGCGAGGTTACAGAGACATCAATGAGATCGACATCAACATGAACGATCCT
CTTTTTACAAAGCAGTGGTATCTGATCAATACTGGGCAAGCTGATGGCACTCCTGGCCTTGATTTGAATGTGGCTGAAGCCTGGGAGCTGGGATACACAGGGAAA
GGTGTTACCATTGGAATTATGGATGATGGGATTGACTATCTCCACCCGGACCTGGCCTCCAACTATAATGCCGAAGCAAGTTACGACTTCAGCAGCAACGACCCC
TATCCTTACCCTCGGTACACAGATGACTGGTTTAACAGCCACGGGACCCGATGTGCAGGAGAAGTTTCTGCTGCCGCCAACAACAATATCTGTGGAGTTGGAGTA
GCATACAACTCCAAGGTTGCAGGCATCCGGATGCTGGACCAGCCATTCATGACAGACATCATCGAGGCCTCCTCCATCAGTCATATGCCACAGCTGATTGACATC
TACAGCGCCAGCTGGGGCCCCACAGACAACGGCAAGACAGTGGATGGGCCCCGGGAGCTCACGCTGCAGGCCATGGCCGATGGCGTGAACAAGGGCCGCGGCGGC
AAAGGCAGCATCTACGTGTGGGCCTCCGGGGACGGCGGCAGCTATGACGACTGCAACTGCGACGGCTACGCCTCCAGCATGTGGACCATCTCCATCAACTCAGCC
ATCAACGACGGCAGGACTGCCCTGTACGACGAGAGCTGCTCTTCCACCTTGGCTTCCACCTTCAGCAACGGGAGGAAAAGGAACCCCGAGGCCGGTGTGGCAACC
ACAGATTTGTACGGCAACTGCACTCTGAGGCATTCTGGGACATCTGCAGCTGCCCCCGAGGCAGCTGGTGTGTTTGCACTGGCTCTGGAGGCTAACCTGGGTCTG
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ATGGTTTTTGCATCTGCTGAGCGACCGGTCTTCACGAATCATTTTCTTGTGGAGTTGCATAAAGGGGGAGAGGACAAAGCTCGCCAAGTTGCAGCAGAACACGGC
TTTGGAGTCCGAAAGCTTCCCTTTGCTGAAGGTCTGTACCACTTTTATCACAATGGCCTTGCAAAGGCCAAGAGAAGACGCAGCCTACACCACAAGCAGCAGCTG
GAGAGAGACCCCAGGGTAAAGATGGCTTTGCAGCAGGAAGGATTTGACCGAAAAAAGCGAGGTTACAGAGACATCAATGAGATCGACATCAACATGAACGATCCT
CTTTTTACAAAGCAGTGGTATCTGATCAATACTGGGCAAGCTGATGGCACTCCTGGCCTTGATTTGAATGTGGCTGAAGCCTGGGAGCTGGGATACACAGGGAAA
GGTGTTACCATTGGAATTATGGATGATGGGATTGACTATCTCCACCCGGACCTGGCCTCCAACTATAATGCCGAAGCAAGTTACGACTTCAGCAGCAACGACCCC
TATCCTTACCCTCGGTACACAGATGACTGGTTTAACAGCCACGGGACCCGATGTGCAGGAGAAGTTTCTGCTGCCGCCAACAACAATATCTGTGGAGTTGGAGTA
GCATACAACTCCAAGGTTGCAGGCATCCGGATGCTGGACCAGCCATTCATGACAGACATCATCGAGGCCTCCTCCATCAGTCATATGCCACAGCTGATTGACATC
TACAGCGCCAGCTGGGGCCCCACAGACAACGGCAAGACAGTGGATGGGCCCCGGGAGCTCACGCTGCAGGCCATGGCCGATGGCGTGAACAAGGGCCGCGGCGGC
AAAGGCAGCATCTACGTGTGGGCCTCCGGGGACGGCGGCAGCTATGACGACTGCAACTGCGACGGCTACGCCTCCAGCATGTGGACCATCTCCATCAACTCAGCC
ATCAACGACGGCAGGACTGCCCTGTACGACGAGAGCTGCTCTTCCACCTTGGCTTCCACCTTCAGCAACGGGAGGAAAAGGAACCCCGAGGCCGGTGTGGCAACC
ACAGATTTGTACGGCAACTGCACTCTGAGGCATTCTGGGACATCTGCAGCTGCCCCCGAGGCAGCTGGTGTGTTTGCACTGGCTCTGGAGGCTAACCTGGGTCTG
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>PCSK2|5126|protein
MVFASAERPVFTNHFLVELHKGGEDKARQVAAEHGFGVRKLPFAEGLYHFYHNGLAKAKRRRSLHHKQQLERDPRVKMALQQEGFDRKKRGYRDINEIDINMNDP
LFTKQWYLINTGQADGTPGLDLNVAEAWELGYTGKGVTIGIMDDGIDYLHPDLASNYNAEASYDFSSNDPYPYPRYTDDWFNSHGTRCAGEVSAAANNNICGVGV
AYNSKVAGIRMLDQPFMTDIIEASSISHMPQLIDIYSASWGPTDNGKTVDGPRELTLQAMADGVNKGRGGKGSIYVWASGDGGSYDDCNCDGYASSMWTISINSA
INDGRTALYDESCSSTLASTFSNGRKRNPEAGVATTDLYGNCTLRHSGTSAAAPEAAGVFALALEANLGLTWRDMQHLTVLTSKRNQLHDEVHQWRRNGVGLEFN
HLFGYGVLDAGAMVKMAKDWKTVPERFHCVGGSVQDPEKIPSTGKLVLTLTTDACEGKENFVRYLEHVQAVITVNATRRGDLNINMTSPMGTKSILLSRRPRDDD
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MVFASAERPVFTNHFLVELHKGGEDKARQVAAEHGFGVRKLPFAEGLYHFYHNGLAKAKRRRSLHHKQQLERDPRVKMALQQEGFDRKKRGYRDINEIDINMNDP
LFTKQWYLINTGQADGTPGLDLNVAEAWELGYTGKGVTIGIMDDGIDYLHPDLASNYNAEASYDFSSNDPYPYPRYTDDWFNSHGTRCAGEVSAAANNNICGVGV
AYNSKVAGIRMLDQPFMTDIIEASSISHMPQLIDIYSASWGPTDNGKTVDGPRELTLQAMADGVNKGRGGKGSIYVWASGDGGSYDDCNCDGYASSMWTISINSA
INDGRTALYDESCSSTLASTFSNGRKRNPEAGVATTDLYGNCTLRHSGTSAAAPEAAGVFALALEANLGLTWRDMQHLTVLTSKRNQLHDEVHQWRRNGVGLEFN
HLFGYGVLDAGAMVKMAKDWKTVPERFHCVGGSVQDPEKIPSTGKLVLTLTTDACEGKENFVRYLEHVQAVITVNATRRGDLNINMTSPMGTKSILLSRRPRDDD
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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 (0) | 0 (3) | 0 (0) | 0 (1) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Michaelis, 1997 | - | STS mapping |  |  | autism | - | - | - | - | 1 | - | 1 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Philippe, 2002_1 | PARIS | PCR | 39 | 78 (24.36%) | | | AD | 16.5 (5-46) |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.759382 | Down | 0.107648 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
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.