ENSG00000152779
Homo sapiens | |
Features
| Gene ID: | ENSG00000152779 | | | | | Biological name : | SLC16A12 | | | | | Synonyms : | SLC16A12 / solute carrier family 16 member 12 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | -1 | | Band: | q23.31 | | Gene start: | 89430299 | | Gene end: | 89556641 | | | | | Corresponding Affymetrix probe sets: | | | | | | Cross references: | Ensembl peptide - ENSP00000360855
Ensembl peptide - ENSP00000436965
NCBI entrez gene - 387700
See in Manteia.
OMIM - 611910
RefSeq - XM_017016237
RefSeq - XM_017016239
RefSeq - NM_213606
RefSeq - XM_017016238
RefSeq Peptide - NP_998771
swissprot - E9PSF9
swissprot - E9PPP4
Ensembl - ENSG00000152779
| | | | | Related genetic diseases (OMIM): | 612018 - Cataract 47, juvenile, with microcornea, 612018 |
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)
No match
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:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
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| | HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| | HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
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