Gene Gene information from NCBI Gene database.
Entrez ID 286077
Gene name Family with sequence similarity 83 member H
Gene symbol FAM83H
Synonyms (NCBI Gene)
AI3AI3A
Chromosome 8
Chromosome location 8q24.3
Summary 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.
14
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.
840
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23455922, 25036637, 26496610, 29789297, 32707033, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0007165 Process Signal transduction IBA
GO:0019901 Function Protein kinase binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611927 24797 ENSG00000180921
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amelogenesis imperfecta, hypocalcification type Pathogenic; Likely pathogenic rs2129668758, rs1554622736, rs1818377152, rs2129674608, rs2129674125, rs137854435, rs137854440, rs137854441, rs137854444, rs2538663573, rs2538662258, rs1554623490 RCV001554276
RCV001554274
RCV001554275
RCV001554273
RCV001728058
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis imperfecta, type 3A Pathogenic; Likely pathogenic rs137854435, rs137854436, rs137854437, rs137854438, rs137854439, rs137854440, rs137854441, rs137854442, rs137854443, rs796065022, rs796065023, rs137854444, rs387907056 RCV004558222
RCV004558223
RCV004558224
RCV004558225
RCV004558226
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAM83H-related disorder Pathogenic rs137854436 RCV004755695
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMELOGENESIS IMPERFECTA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE III CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IIIA Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ameloblastoma Ameloblastoma BEFREE 27222304
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma Pubtator 27222304 Associate
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 18252228, 19407157, 19825039, 19828885, 20938048, 22243262, 22414746, 22538897, 26142250, 27222304, 28729668, 29676651, 29949226, 30247735
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta LHGDN 18252228
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 18252228, 18484629, 19407157, 19530186, 20160442, 20938048, 21597265, 22243262, 27222304, 32289446, 33034243, 35212465, 35886055, 39273410 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta CTD_human_DG 18484629, 19407157
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Type III Amelogenesis imperfecta Pubtator 21118793 Associate
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta, Type III Amelogenesis Imperfecta BEFREE 18252228, 19825039, 20160442, 21702852, 28683132
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type III Amelogenesis Imperfecta UNIPROT_DG 18252228, 26142250
★★☆☆☆
Found in Text Mining + Unknown/Other Associations