ENSG00000106331
Homo sapiens | |
Features
| Gene ID: | ENSG00000106331 | | | | | Biological name : | PAX4 | | | | | Synonyms : | O43316 / paired box 4 / PAX4 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | -1 | | Band: | q32.1 | | Gene start: | 127610292 | | Gene end: | 127618114 | | | | | Corresponding Affymetrix probe sets: | 207867_at (Human Genome U133 Plus 2.0 Array) 211176_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000451923
Ensembl peptide - ENSP00000473846
Ensembl peptide - ENSP00000491782
Ensembl peptide - ENSP00000477877
Ensembl peptide - ENSP00000339906
Ensembl peptide - ENSP00000344297
Ensembl peptide - ENSP00000368014
NCBI entrez gene - 5078
See in Manteia.
OMIM - 167413
RefSeq - XM_011516276
RefSeq - NM_006193
RefSeq Peptide - NP_006184
swissprot - J3KPG0
swissprot - A0A1W2PPX4
swissprot - G3V4Q1
swissprot - O43316
swissprot - Q3KNR5
swissprot - A0A0A0MRB6
Ensembl - ENSG00000106331
| | | | | Related genetic diseases (OMIM): | 125853 - Diabetes mellitus, type 2, 125853 | | | 612225 - Maturity-onset diabetes of the young, type IX, 612225 | | | 612227 - {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 |
This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000855 | Insulin resistance | |
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| | HP:0003584 | Late onset | |
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| | HP:0004904 | Insulin-dependent maturity-onset diabetes of the young | |
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| | HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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Interacting proteins (from Reactome)
No match
0 s.
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