Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
286077
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 83 member H
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM83H
Synonyms (NCBI Gene) Gene synonyms aliases
AI3, AI3A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AI3A
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137854435 G>A Pathogenic Stop gained, coding sequence variant
rs137854436 G>A Pathogenic Stop gained, coding sequence variant
rs137854437 C>A,T Pathogenic Missense variant, stop gained, coding sequence variant
rs137854438 A>T Pathogenic Stop gained, coding sequence variant
rs137854439 C>G,T Pathogenic Missense variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004896 hsa-miR-124-3p Microarray 15685193
MIRT004896 hsa-miR-124-3p Microarray 18668037
MIRT043219 hsa-miR-324-5p CLASH 23622248
MIRT038129 hsa-miR-423-5p CLASH 23622248
MIRT487588 hsa-miR-483-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23455922, 26496610, 29789297
GO:0005737 Component Cytoplasm IEA
GO:0007165 Process Signal transduction IBA 21873635
GO:0019901 Function Protein kinase binding IBA 21873635
GO:0019901 Function Protein kinase binding IPI 23902688
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611927 24797 ENSG00000180921
Protein
UniProt ID Q6ZRV2
Protein name Protein FAM83H
Protein function May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial ce
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07894 FAM83 12 283 FAM83 A-H Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the tooth follicle. {ECO:0000269|PubMed:18252228}.
Sequence
MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYSRFLATEGAPDFLCPEE
LEHVSRHLRPPQYVTREPPEGSLLDVDMDGSSGTYWPVNSDQAVPELDLGWPLTFGFQGT
EVTTLVQPPPPDSPSIKDEARRMIRSAQQVVAVVMDMFTDVDLLSEVLEAAARRVPVYIL
LDEMNAQHFLDMADKCRVNLQHVDFLRVRTVAGPTYYCRTGKSFKGHVKEKFLLVDCAVV
MSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRILFAQSEP
LVPSAAALARMDAYALA
PYAGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPREEGLGFPSFLDPDRHFLSAFRREEPP
RMPGGALEPHAGLRPLSRRLEAEAGPAGELAGARGFFQARHLEMDAFKRHSFATEGAGAV
ENFAAARQVSRQTFLSHGDDFRFQTSHFHRDQLYQQQYQWDPQLTPARPQGLFEKLRGGR
AGFADPDDFTLGAGPRFPELGPDGHQRLDYVPSSASREVRHGSDPAFAPGPRGLEPSGAP
RPNLTQRFPCQAAARPGPDPAPEAEPERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGL
PAPMEAEAYEDDVLAPGGRAPAGDLLPSAFRVPAAFPTKVPVPGPGSGGNGPEREGPEEP
GLAKQDSFRSRLNPLVQRSSRLRSSLIFSTSQAEGAAGAAAATEKVQLLHKEQTVSETLG
PGGEAVRSAASTKVAELLEKYKGPARDPGGGAGAITVASHSKAVVSQAWREEVAAPGAVG
GERRSLESCLLDLRDSFAQQLHQEAERQPGAASLTAAQLLDTLGRSGSDRLPSRFLSAQS
HSTSPQGLDSPLPLEGSGAHQVLHNESKGSPTSAYPERKGSPTPGFSTRRGSPTTGFIEQ
KGSPTSAYPERRGSPVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPME
VLRKGSLRLRQLLSPKGERRMEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPR
ARLSSATANALYSSNLRDDTKAILEQISAHGQKHRAVPAPSPGPTHNSPELGRPPAAGVL
APDMSDKDKCSAIFRSDSLGTQGRLSRTLPASAEERDRLLRRMESMRKEKRVYSRFEVFC
KKEEASSPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK
Sequence length 1179
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amelogenesis imperfecta Amelogenesis Imperfecta, Amelogenesis Imperfecta, Type III rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489
View all (70 more)
18484629, 19407157, 18252228, 26142250
Associations from Text Mining
Disease Name Relationship Type References
Ameloblastoma Associate 27222304
Amelogenesis Imperfecta Associate 18252228, 18484629, 19407157, 19530186, 20160442, 20938048, 21597265, 22243262, 27222304, 32289446, 33034243, 35212465, 35886055, 39273410
Amelogenesis Imperfecta Type III Associate 21118793
Anophthalmia with pulmonary hypoplasia Stimulate 33747255
Breast Neoplasms Stimulate 30959550
Breast Neoplasms Associate 32839509
Carcinogenesis Associate 30842470, 31250574, 34625065
Carcinoma Ductal Associate 30959550
Carcinoma Hepatocellular Stimulate 31599410
Carcinoma Pancreatic Ductal Associate 29440233