Evidence Details for KCNJ4
Basic Information Top
| Gene Symbol: | KCNJ4 ( HIR,HIRK2,HRK1,IRK-3,IRK3,Kir2.3,MGC142066,MGC142068 ) |
|---|---|
| Gene Full Name: | potassium inwardly-rectifying channel, subfamily J, member 4 |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:3761; OMIM: 600504; Uniprot ID:IRK4_HUMAN; ENSEMBL ID: ENSG00000168135; HGNC ID: 6265 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KCNJ4|3761|nucleotide
ATGCACGGACACAGCCGCAACGGCCAGGCCCACGTGCCCCGGCGGAAGCGCCGCAACCGCTTCGTCAAGAAGAACGGCCAATGCAACGTGTACTTCGCCAACCTG
AGCAACAAGTCGCAGCGCTACATGGCGGACATCTTCACCACCTGCGTGGACACGCGCTGGCGCTACATGCTCATGATCTTCTCCGCGGCCTTCCTTGTCTCCTGG
CTCTTTTTCGGCCTCCTCTTCTGGTGTATCGCCTTCTTCCACGGTGACCTGGAGGCCAGCCCAGGGGTGCCTGCGGCGGGGGGCCCGGCGGCGGGTGGTGGCGGA
GCAGCCCCGGTGGCCCCCAAGCCCTGCATCATGCACGTGAACGGCTTCCTGGGTGCCTTCCTGTTCTCGGTGGAGACGCAGACGACCATCGGCTATGGGTTCCGG
TGCGTGACAGAGGAGTGCCCGCTGGCAGTCATCGCTGTGGTGGTCCAGTCCATCGTGGGCTGCGTCATCGACTCCTTCATGATTGGCACCATCATGGCCAAGATG
GCGCGGCCCAAGAAGCGGGCGCAGACGTTGCTGTTCAGCCACCACGCGGTCATTTCGGTGCGCGACGGCAAGCTCTGCCTCATGTGGCGCGTGGGCAACCTGCGC
AAGAGCCACATTGTGGAGGCCCACGTGCGGGCCCAGCTCATCAAGCCCTACATGACCCAGGAGGGCGAGTACCTGCCCCTGGACCAGCGGGACCTCAACGTGGGC
TATGACATCGGCCTGGACCGCATCTTCCTGGTGTCGCCCATCATCATTGTCCACGAGATCGACGAGGACAGCCCGCTTTATGGCATGGGCAAGGAGGAGCTGGAG
TCGGAGGACTTTGAGATCGTGGTCATCCTGGAGGGCATGGTGGAGGCCACGGCCATGACCACCCAGGCCCGCAGCTCCTACCTGGCCAGCGAGATCCTGTGGGGC
CACCGCTTTGAGCCTGTGGTCTTCGAGGAGAAGAGCCACTACAAGGTGGACTACTCACGTTTTCACAAGACCTACGAGGTGGCCGGCACGCCCTGCTGCTCGGCC
CGGGAGCTGCAGGAGAGTAAGATCACCGTGCTGCCCGCCCCACCGCCCCCTCCCAGTGCCTTCTGCTACGAGAACGAGCTGGCCCTTATGAGCCAGGAGGAAGAG
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ATGCACGGACACAGCCGCAACGGCCAGGCCCACGTGCCCCGGCGGAAGCGCCGCAACCGCTTCGTCAAGAAGAACGGCCAATGCAACGTGTACTTCGCCAACCTG
AGCAACAAGTCGCAGCGCTACATGGCGGACATCTTCACCACCTGCGTGGACACGCGCTGGCGCTACATGCTCATGATCTTCTCCGCGGCCTTCCTTGTCTCCTGG
CTCTTTTTCGGCCTCCTCTTCTGGTGTATCGCCTTCTTCCACGGTGACCTGGAGGCCAGCCCAGGGGTGCCTGCGGCGGGGGGCCCGGCGGCGGGTGGTGGCGGA
GCAGCCCCGGTGGCCCCCAAGCCCTGCATCATGCACGTGAACGGCTTCCTGGGTGCCTTCCTGTTCTCGGTGGAGACGCAGACGACCATCGGCTATGGGTTCCGG
TGCGTGACAGAGGAGTGCCCGCTGGCAGTCATCGCTGTGGTGGTCCAGTCCATCGTGGGCTGCGTCATCGACTCCTTCATGATTGGCACCATCATGGCCAAGATG
GCGCGGCCCAAGAAGCGGGCGCAGACGTTGCTGTTCAGCCACCACGCGGTCATTTCGGTGCGCGACGGCAAGCTCTGCCTCATGTGGCGCGTGGGCAACCTGCGC
AAGAGCCACATTGTGGAGGCCCACGTGCGGGCCCAGCTCATCAAGCCCTACATGACCCAGGAGGGCGAGTACCTGCCCCTGGACCAGCGGGACCTCAACGTGGGC
TATGACATCGGCCTGGACCGCATCTTCCTGGTGTCGCCCATCATCATTGTCCACGAGATCGACGAGGACAGCCCGCTTTATGGCATGGGCAAGGAGGAGCTGGAG
TCGGAGGACTTTGAGATCGTGGTCATCCTGGAGGGCATGGTGGAGGCCACGGCCATGACCACCCAGGCCCGCAGCTCCTACCTGGCCAGCGAGATCCTGTGGGGC
CACCGCTTTGAGCCTGTGGTCTTCGAGGAGAAGAGCCACTACAAGGTGGACTACTCACGTTTTCACAAGACCTACGAGGTGGCCGGCACGCCCTGCTGCTCGGCC
CGGGAGCTGCAGGAGAGTAAGATCACCGTGCTGCCCGCCCCACCGCCCCCTCCCAGTGCCTTCTGCTACGAGAACGAGCTGGCCCTTATGAGCCAGGAGGAAGAG
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>KCNJ4|3761|protein
MHGHSRNGQAHVPRRKRRNRFVKKNGQCNVYFANLSNKSQRYMADIFTTCVDTRWRYMLMIFSAAFLVSWLFFGLLFWCIAFFHGDLEASPGVPAAGGPAAGGGG
AAPVAPKPCIMHVNGFLGAFLFSVETQTTIGYGFRCVTEECPLAVIAVVVQSIVGCVIDSFMIGTIMAKMARPKKRAQTLLFSHHAVISVRDGKLCLMWRVGNLR
KSHIVEAHVRAQLIKPYMTQEGEYLPLDQRDLNVGYDIGLDRIFLVSPIIIVHEIDEDSPLYGMGKEELESEDFEIVVILEGMVEATAMTTQARSSYLASEILWG
HRFEPVVFEEKSHYKVDYSRFHKTYEVAGTPCCSARELQESKITVLPAPPPPPSAFCYENELALMSQEEEEMEEEAAAAAAVAAGLGLEAGSKEEAGIIRMLEFG
SHLDLERMQASLPLDNISYRRESAI
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MHGHSRNGQAHVPRRKRRNRFVKKNGQCNVYFANLSNKSQRYMADIFTTCVDTRWRYMLMIFSAAFLVSWLFFGLLFWCIAFFHGDLEASPGVPAAGGPAAGGGG
AAPVAPKPCIMHVNGFLGAFLFSVETQTTIGYGFRCVTEECPLAVIAVVVQSIVGCVIDSFMIGTIMAKMARPKKRAQTLLFSHHAVISVRDGKLCLMWRVGNLR
KSHIVEAHVRAQLIKPYMTQEGEYLPLDQRDLNVGYDIGLDRIFLVSPIIIVHEIDEDSPLYGMGKEELESEDFEIVVILEGMVEATAMTTQARSSYLASEILWG
HRFEPVVFEEKSHYKVDYSRFHKTYEVAGTPCCSARELQESKITVLPAPPPPPSAFCYENELALMSQEEEEMEEEAAAAAAVAAGLGLEAGSKEEAGIIRMLEFG
SHLDLERMQASLPLDNISYRRESAI
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Prasad, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies TopLow 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.