ENSG00000143315
Homo sapiens | |
Features
| Gene ID: | ENSG00000143315 | | | | | Biological name : | PIGM | | | | | Synonyms : | phosphatidylinositol glycan anchor biosynthesis class M / PIGM / Q9H3S5 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | q23.2 | | Gene start: | 160024953 | | Gene end: | 160031991 | | | | | Corresponding Affymetrix probe sets: | 223470_at (Human Genome U133 Plus 2.0 Array) 235168_at (Human Genome U133 Plus 2.0 Array) 235532_at (Human Genome U133 Plus 2.0 Array) 236622_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000357069
NCBI entrez gene - 93183
See in Manteia.
OMIM - 610273
RefSeq - NM_145167
RefSeq Peptide - NP_660150
swissprot - Q9H3S5
Ensembl - ENSG00000143315
| | | | | Related genetic diseases (OMIM): | 610293 - Glycosylphosphatidylinositol deficiency, 610293 |
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)
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:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001409 | Portal hypertension | |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| | HP:0004936 | Venous thrombosis | |
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| | HP:0030242 | Portal vein thrombosis | "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890] |
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Interacting proteins (from Reactome)
| ENSG00000163964 | PIGX / Q8TBF5 / phosphatidylinositol glycan anchor biosynthesis class X | / complex |
1 s.
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