ENSG00000180921
Homo sapiens | |
Features
| Gene ID: | ENSG00000180921 | | | | | Biological name : | FAM83H | | | | | Synonyms : | FAM83H / family with sequence similarity 83 member H / Q6ZRV2 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 8 | | Strand: | -1 | | Band: | q24.3 | | Gene start: | 143723933 | | Gene end: | 143733801 | | | | | Corresponding Affymetrix probe sets: | 226129_at (Human Genome U133 Plus 2.0 Array) 241406_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000373565
Ensembl peptide - ENSP00000378535
NCBI entrez gene - 286077
See in Manteia.
OMIM - 611927
RefSeq - XM_011516981
RefSeq - NM_198488
RefSeq - XM_005250888
RefSeq - XM_005250889
RefSeq - XM_011516980
RefSeq - XM_005250887
RefSeq Peptide - NP_940890
swissprot - Q6ZRV2
swissprot - J3KPS2
Ensembl - ENSG00000180921
| | | | | Related genetic diseases (OMIM): | 130900 - Amelogenesis imperfecta, type IIIA, 130900 |
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)
| FAM83B / Q5T0W9 / family with sequence similarity 83 member B | ENSG00000168143 | 23 | | FAM83C / Q9BQN1 / family with sequence similarity 83 member C | ENSG00000125998 | 15 | | A6ND36 / FAM83G / family with sequence similarity 83 member G | ENSG00000188522 | 15 | | FAM83E / Q2M2I3 / family with sequence similarity 83 member E | ENSG00000105523 | 12 | | FAM83D / Q9H4H8 / family with sequence similarity 83 member D | ENSG00000101447 | 11 | | FAM83F / Q8NEG4 / family with sequence similarity 83 member F | ENSG00000133477 | 11 | | FAM83A / Q86UY5 / family with sequence similarity 83 member A | ENSG00000147689 | 11 |
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:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| | HP:0000705 | Amelogenesis imperfecta | |
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| | HP:0200095 | Anterior open bite | |
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Interacting proteins (from Reactome)
No match
1 s.
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