Gene Gene information from NCBI Gene database.
Entrez ID 222584
Gene name Family with sequence similarity 83 member B
Gene symbol FAM83B
Synonyms (NCBI Gene)
C6orf143
Chromosome 6
Chromosome location 6p12.1
miRNA miRNA information provided by mirtarbase database.
211
miRTarBase ID miRNA Experiments Reference
MIRT018226 hsa-miR-335-5p Microarray 18185580
MIRT459433 hsa-miR-1910-3p PAR-CLIP 23592263
MIRT459432 hsa-miR-6511a-5p PAR-CLIP 23592263
MIRT459431 hsa-miR-4257 PAR-CLIP 23592263
MIRT459430 hsa-miR-1827 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004630 Function Phospholipase D activity IDA 22886302
GO:0005154 Function Epidermal growth factor receptor binding IPI 23912460
GO:0005515 Function Protein binding IPI 23455922, 29789297, 32707033, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 22886302
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T0W9
Protein name Protein FAM83B
Protein function Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades. {ECO:0000269|PubMed:22886302, ECO:0000269|PubMed:2
PDB 5LZK , 5QHI , 5QHJ , 5QHK , 5QHL , 5QHM , 5QHN , 5QHO , 5QHP , 5QHQ , 5QHR , 5QHS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07894 FAM83 12 282 FAM83 A-H Family
Sequence
METSSMLSSLNDECKSDNYIEPHYKEWYRVAIDILIEHGLEAYQEFLVQERVSDFLAEEE
INYILKNVQKVAQSTAHGTDDSCDDTLSSGTYWPVESDVEAPNLDLGWPYVMPGLLGGTH
IDLLFHPPRAHLLTIKETIRKMIKEARKVIALVMDIFTDVDIFKEIVEASTRGVSVYILL
DESNFNHFLNMTEKQGCSVQRLRNIRVRTVKGQDYLSKTGAKFHGKMEQKFLLVDCQKVM
YGSYSYMWSFEKAHLSMVQIITGQLVESFDEEFRTLYARSCV
PSSFAQEESARVKHGKAL
WENGTYQHSVSSLASVSSQRNLFGRQDKIHKLDSSYFKNRGIYTLNEHDKYNIRSHGYKP
HFVPNFNGPNAIRQFQPNQINENWKRHSYAGEQPETVPYLLLNRALNRTNNPPGNWKKPS
DSLSVASSSREGYVSHHNTPAQSFANRLAQRKTTNLADRNSNVRRSFNGTDNHIRFLQQR
MPTLEHTTKSFLRNWRIESYLNDHSEATPDSNGSALGDRFEGYDNPENLKANALYTHSRL
RSSLVFKPTLPEQKEVNSCTTGSSNSTIIGSQGSETPKEVPDTPTNVQHLTDKPLPESIP
KLPLQSEAPKMHTLQVPENHSVALNQTTNGHTESNNYIYKTLGVNKQTENLKNQQTENLL
KRRSFPLFDNSKANLDPGNSKHYVYSTLTRNRVRQPEKPKEDLLKSSKSMHNVTHNLEED
EEEVTKRNSPSGTTTKSVSIAALLDVNKEESNKELASKKEVKGSPSFLKKGSQKLRSLLS
LTPDKKENLSKNKAPAFYRLCSSSDTLVSEGEENQKPKKSDTKVDSSPRRKHSSSSNSQG
SIHKSKEDVTVSPSQEINAPPDENKRTPSPGPVESKFLERAGDASAPRFNTEQIQYRDSR
EINAVVTPERRPTSSPRPTSSELLRSHSTDRRVYSRFEPFCKIESSIQPTSNMPNTSINR
PEIKSATMGNSYGRSSPLLNYNTGVYRSYQPNENKFRGFMQKFGNFIHKNK
Sequence length 1011
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 25586059
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29434849
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29158787
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 33747255 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23912460
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 23912460 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36690987 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25586059
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 25586059 Stimulate
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 31079003
★☆☆☆☆
Found in Text Mining only