ENSG00000130711
Homo sapiens | |
Features
| Gene ID: | ENSG00000130711 | | | | | Biological name : | PRDM12 | | | | | Synonyms : | PRDM12 / PR/SET domain 12 / Q9H4Q4 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 9 | | Strand: | 1 | | Band: | q34.12 | | Gene start: | 130664594 | | Gene end: | 130682981 | | | | | Corresponding Affymetrix probe sets: | 220894_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000253008
NCBI entrez gene - 59335
See in Manteia.
OMIM - 616458
RefSeq - NM_021619
RefSeq Peptide - NP_067632
swissprot - Q9H4Q4
Ensembl - ENSG00000130711
| | | | | Related genetic diseases (OMIM): | 616488 - Neuropathy, hereditary sensory and autonomic, type VIII, 616488 |
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: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:0000559 | Corneal scarring | |
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| | HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| | HP:0012804 | Corneal ulceration | "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
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