ENSG00000166415
Homo sapiens | |
Features
| Gene ID: | ENSG00000166415 | | | | | Biological name : | WDR72 | | | | | Synonyms : | Q3MJ13 / WDR72 / WD repeat domain 72 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 15 | | Strand: | -1 | | Band: | q21.3 | | Gene start: | 53513741 | | Gene end: | 53762878 | | | | | Corresponding Affymetrix probe sets: | 1563874_at (Human Genome U133 Plus 2.0 Array) 227174_at (Human Genome U133 Plus 2.0 Array) 236741_at (Human Genome U133 Plus 2.0 Array) 238253_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000453813
Ensembl peptide - ENSP00000453378
Ensembl peptide - ENSP00000477754
Ensembl peptide - ENSP00000353699
Ensembl peptide - ENSP00000379619
Ensembl peptide - ENSP00000452765
NCBI entrez gene - 256764
See in Manteia.
OMIM - 613214
RefSeq - XM_017022061
RefSeq - NM_001277176
RefSeq - NM_182758
RefSeq - XM_011521433
RefSeq - XM_011521435
RefSeq - XM_011521436
RefSeq - XM_011521437
RefSeq Peptide - NP_877435
RefSeq Peptide - NP_001264105
swissprot - H0YLX4
swissprot - Q3MJ13
swissprot - A0A087WTC3
swissprot - H0YN02
swissprot - H0YKE0
Ensembl - ENSG00000166415
| | | | | Related genetic diseases (OMIM): | 613211 - Amelogenesis imperfecta, type IIA3, 613211 |
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)
| IPR001680 | WD40 repeat | | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily | | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily | | IPR017986 | WD40-repeat-containing domain | | IPR019775 | WD40 repeat, conserved site | | IPR036322 | WD40-repeat-containing domain superfamily |
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:0000705 | Amelogenesis imperfecta | |
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| | HP:0011085 | Hypomature dental enamel | "A form of `hypomineralization of enamel` (HP:0006285) characterized by a chalky appearance of the enamel with orange, brown, or white color." [HPO:ibailleulforestier] |
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Interacting proteins (from Reactome)
No match
0 s.
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