ENSG00000064195
Homo sapiens | |
Features
| Gene ID: | ENSG00000064195 | | | | | Biological name : | DLX3 | | | | | Synonyms : | distal-less homeobox 3 / DLX3 / O60479 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 17 | | Strand: | -1 | | Band: | q21.33 | | Gene start: | 49990005 | | Gene end: | 49995224 | | | | | Corresponding Affymetrix probe sets: | 231778_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000389870
Ensembl peptide - ENSP00000449976
NCBI entrez gene - 1747
See in Manteia.
OMIM - 600525
RefSeq - NM_005220
RefSeq Peptide - NP_005211
swissprot - O60479
swissprot - F8VXG1
Ensembl - ENSG00000064195
| | | | | Related genetic diseases (OMIM): | 104510 - Amelogenesis imperfecta, type IV, 104510 | | | 190320 - Trichodontoosseous syndrome, 190320 |
This gene has been taged as a transcription factor by TFT
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:0000264 | Abnormality of the mastoid | "An abnormality of the `mastoid process` (FMA:52872), which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [HPO:curators] |
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| | HP:0000268 | Dolichocephaly | |
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| | HP:0000679 | Taurodontia | |
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| | HP:0000687 | Widely spaced teeth | |
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| | HP:0000691 | Microdontia | |
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| | HP:0000705 | Amelogenesis imperfecta | |
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| | HP:0001595 | Hair abnormality | |
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| | HP:0001808 | Fragile nails | |
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| | HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| | HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
1 s.
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