Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81610
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 83 member D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM83D
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf129, CHICA, dJ616B8.3
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.23
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022620 hsa-miR-124-3p Microarray 18668037
MIRT024511 hsa-miR-215-5p Microarray 19074876
MIRT026481 hsa-miR-192-5p Microarray 19074876
MIRT658345 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT658344 hsa-miR-4485-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001837 Process Epithelial to mesenchymal transition IDA 24344117
GO:0005515 Function Protein binding IPI 23455922, 24344117, 29789297
GO:0005737 Component Cytoplasm IC 24736947, 25646692
GO:0005737 Component Cytoplasm IDA 18445686, 18485706
GO:0005819 Component Spindle IDA 18445686
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618380 16122 ENSG00000101447
Protein
UniProt ID Q9H4H8
Protein name Protein FAM83D (Spindle protein CHICA)
Protein function Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:2564
PDB 5E0L , 5E0M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07894 FAM83 17 296 FAM83 A-H Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the testis. {ECO:0000269|PubMed:22965910}.
Sequence
MALLSEGLDEVPAACLSPCGPPNPTELFSESRRLALEELVAGGPEAFAAFLRRERLARFL
NPDEVHAILRAAERPGEEGAAAAAAAEDSFGSSHDCSSGTYFPEQSDLEPPLLELGWPAF
YQGAYRGATRVETHFQPRGAGEGGPYGCKDALRQQLRSAREVIAVVMDVFTDIDIFRDLQ
EICRKQGVAVYILLDQALLSQFLDMCMDLKVHPEQEKLMTVRTITGNIYYARSGTKIIGK
VHEKFTLIDGIRVATGSYSFTWTDGKLNSSNLVILSGQVVEHFDLEFRILYAQSKP
ISPK
LLSHFQSSNKFDHLTNRKPQSKELTLGNLLRMRLARLSSTPRKADLDPEMPAEGKAERKP
HDCESSTVSEEDYFSSHRDELQSRKAIDAATQTEPGEEMPGLSVSEVGTQTSITTACAGT
QTAVITRIASSQTTIWSRSTTTQTDMDENILFPRGTQSTEGSPVSKMSVSRSSSLKSSSS
VSSQGSVASSTGSPASIRTTDFHNPGYPKYLGTPHLELYLSDSLRNLNKERQFHFAGIRS
RLNHMLAMLSRRTLFTENHLGLHSGNFSRVNLLAVRDVALYPSYQ
Sequence length 585
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36710419
Anophthalmia with pulmonary hypoplasia Stimulate 33747255
Breast Neoplasms Stimulate 24344117
Breast Neoplasms Associate 31758680, 35650627, 37958803
Carcinogenesis Associate 34308751
Carcinoma Hepatocellular Stimulate 26125229
Carcinoma Hepatocellular Associate 30910840, 34308751, 36710419, 37309005
Carcinoma Non Small Cell Lung Associate 32228656
Carcinoma Renal Cell Associate 36710419
Carcinoma Squamous Cell Associate 39237897