ENSG00000090402
Homo sapiens | |
Features
| Gene ID: | ENSG00000090402 | | | | | Biological name : | SI | | | | | Synonyms : | P14410 / SI / sucrase-isomaltase | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | -1 | | Band: | q26.1 | | Gene start: | 164978898 | | Gene end: | 165078495 | | | | | Corresponding Affymetrix probe sets: | 206664_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000264382
Ensembl peptide - ENSP00000419450
NCBI entrez gene - 6476
See in Manteia.
OMIM - 609845
RefSeq - XM_011513078
RefSeq - NM_001041
RefSeq Peptide - NP_001032
swissprot - P14410
swissprot - F8WF21
Ensembl - ENSG00000090402
| | | | | Related genetic diseases (OMIM): | 222900 - Sucrase-isomaltase deficiency, congenital, 222900 |
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)
| IPR000322 | Glycoside hydrolase family 31 | | IPR000519 | P-type trefoil domain | | IPR011013 | Galactose mutarotase-like domain superfamily | | IPR017853 | Glycoside hydrolase superfamily | | IPR017957 | P-type trefoil, conserved site | | IPR030458 | Glycosyl hydrolases family 31, active site | | IPR030459 | Glycosyl hydrolases family 31, conserved site | | IPR031727 | Galactose mutarotase, N-terminal barrel |
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:0000787 | Kidney stones | |
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| | HP:0001939 | Metabolism abnormality | |
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| | HP:0002014 | Diarrhea | |
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| | HP:0002024 | Malabsorption | |
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Interacting proteins (from Reactome)
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