ENSG00000140470
Homo sapiens | |
Features
| Gene ID: | ENSG00000140470 | | | | | Biological name : | ADAMTS17 | | | | | Synonyms : | ADAM metallopeptidase with thrombospondin type 1 motif 17 / ADAMTS17 / Q8TE56 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 15 | | Strand: | -1 | | Band: | q26.3 | | Gene start: | 99971589 | | Gene end: | 100342005 | | | | | Corresponding Affymetrix probe sets: | 1552725_s_at (Human Genome U133 Plus 2.0 Array) 1552726_at (Human Genome U133 Plus 2.0 Array) 1552727_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000268070
Ensembl peptide - ENSP00000453604
Ensembl peptide - ENSP00000456161
Ensembl peptide - ENSP00000458005
NCBI entrez gene - 170691
See in Manteia.
OMIM - 607511
RefSeq - XM_017021979
RefSeq - XM_011521312
RefSeq - XM_017021973
RefSeq - XM_017021974
RefSeq - XM_017021975
RefSeq - XM_017021976
RefSeq - NM_139057
RefSeq - XM_005254872
RefSeq Peptide - NP_620688
swissprot - H3BRA9
swissprot - H3BV94
swissprot - H0YMH1
swissprot - Q8TE56
Ensembl - ENSG00000140470
| | | | | Related genetic diseases (OMIM): | 613195 - Weill-Marchesani 4 syndrome, recessive, 613195 |
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)
| Q8TE59 / ADAMTS19 / ADAM metallopeptidase with thrombospondin type 1 motif 19 | ENSG00000145808 | 55 | | Q9UKP4 / ADAMTS7 / ADAM metallopeptidase with thrombospondin type 1 motif 7 | ENSG00000136378 | 34 | | Q8TE60 / ADAMTS18 / ADAM metallopeptidase with thrombospondin type 1 motif 18 | ENSG00000140873 | 33 | | Q8TE57 / ADAMTS16 / ADAM metallopeptidase with thrombospondin type 1 motif 16 | ENSG00000145536 | 32 | | P58397 / ADAMTS12 / ADAM metallopeptidase with thrombospondin type 1 motif 12 | ENSG00000151388 | 32 | | Q9UKP5 / ADAMTS6 / ADAM metallopeptidase with thrombospondin type 1 motif 6 | ENSG00000049192 | 31 | | Q9H324 / ADAMTS10 / ADAM metallopeptidase with thrombospondin type 1 motif 10 | ENSG00000142303 | 31 | | O95450 / ADAMTS2 / ADAM metallopeptidase with thrombospondin type 1 motif 2 | ENSG00000087116 | 29 | | Q8WXS8 / ADAMTS14 / ADAM metallopeptidase with thrombospondin type 1 motif 14 | ENSG00000138316 | 29 | | O15072 / ADAMTS3 / ADAM metallopeptidase with thrombospondin type 1 motif 3 | ENSG00000156140 | 27 |
Protein motifs (from Interpro)
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:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| | HP:0001083 | Ectopia lentis | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
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