ENSG00000241973
Homo sapiens | |
Features
| Gene ID: | ENSG00000241973 | | | | | Biological name : | PI4KA | | | | | Synonyms : | P42356 / phosphatidylinositol 4-kinase alpha / PI4KA | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 22 | | Strand: | -1 | | Band: | q11.21 | | Gene start: | 20707691 | | Gene end: | 20859417 | | | | | Corresponding Affymetrix probe sets: | 207081_s_at (Human Genome U133 Plus 2.0 Array) 213408_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000382162
Ensembl peptide - ENSP00000402437
Ensembl peptide - ENSP00000255882
NCBI entrez gene - 5297
See in Manteia.
OMIM - 600286
RefSeq - XM_017028830
RefSeq - XM_005261634
RefSeq - XM_005261635
RefSeq - XM_011530226
RefSeq - XM_017028829
RefSeq - NM_058004
RefSeq Peptide - NP_477352
swissprot - C9JLI1
swissprot - A8MTF1
swissprot - P42356
Ensembl - ENSG00000241973
| | | | | Related genetic diseases (OMIM): | 616531 - Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 |
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)
No match
Protein motifs (from Interpro)
| IPR000403 | Phosphatidylinositol 3-/4-kinase, catalytic domain | | IPR001263 | Phosphoinositide 3-kinase, accessory (PIK) domain | | IPR011009 | Protein kinase-like domain superfamily | | IPR011989 | Armadillo-like helical | | IPR015433 | Phosphatidylinositol kinase | | IPR016024 | Armadillo-type fold | | IPR018936 | Phosphatidylinositol 3/4-kinase, conserved site | | IPR036940 | Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000268 | Dolichocephaly | |
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| | HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| | HP:0001321 | Cerebellar hypoplasia | |
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| | HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| | HP:0002804 | Arthrogryposis multiplex congenita | |
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| | HP:0003577 | Onset at birth | |
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| | HP:0007033 | Cerebellar dysplasia | |
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| | HP:0008796 | Externally rotated hips | |
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| | HP:0010557 | Overlapping fingers | "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
0 s.
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