Aliases for FAM83A Gene
Aliases for FAM83A Gene
External Ids for FAM83A Gene
- HGNC: 28210
- Entrez Gene: 84985
- Ensembl: ENSG00000147689
- UniProtKB: Q86UY5
Previous GeneCards Identifiers for FAM83A Gene
- GC08P124261
- GC08P124194
- GC08P119520
Summaries for FAM83A Gene
GeneCards Summary for FAM83A Gene
FAM83A (Family With Sequence Similarity 83 Member A) is a Protein Coding gene. An important paralog of this gene is FAM83C.
UniProtKB/Swiss-Prot for FAM83A Gene
-
Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83A Gene
Genomics for FAM83A Gene
Regulatory Elements for FAM83A Gene
Enhancers for FAM83A Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FAM83A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FAM83A gene promoter:
Regulatory Element Products
Genomic Location for FAM83A Gene
- Chromosome:
- 8
- Start:
- 123,178,960 bp from pter
- End:
- 123,210,079 bp from pter
- Size:
- 31,120 bases
- Orientation:
- Plus strand
Genomic View for FAM83A Gene
Genes around FAM83A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q24.13 by Ensembl
- 8q24.13 by Entrez Gene
- 8q24.13 by HGNC
FAM83A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FAM83A Gene
Proteins for FAM83A Gene
-
Protein details for FAM83A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q86UY5-FA83A_HUMAN
- Recommended name:
- Protein FAM83A
- Protein Accession:
- Q86UY5
- Q71HL2
- Q8N7I1
- Q96I47
Protein attributes for FAM83A Gene
- Size:
- 434 amino acids
- Molecular mass:
- 47458 Da
- Quaternary structure:
-
- Interacts with the regulatory subunit p85 of PI3-kinase; increased by EGFR activation (PubMed:22886303). Interacts with RAF1; increased by EGFR activation it activates RAF1 (PubMed:22886303, PubMed:24736947).
- SequenceCaution:
-
- Sequence=BAC05299.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for FAM83A Gene
Post-translational modifications for FAM83A Gene
- Phosphorylated upon EGFR activation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for FAM83A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FAM83A
- Invitrogen Antibodies for FAM83A
- Search GeneTex for Antibodies for FAM83A
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FAM83A
- Origene Custom Protein Services for FAM83A
- Novus Biologicals lysates for FAM83A
- Search GeneTex for Proteins for FAM83A
Assay Products
No data available for DME Specific Peptides for FAM83A Gene
Domains & Families for FAM83A Gene
Protein Domains for FAM83A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FAM83A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q86UY5- Family:
-
- Belongs to the FAM83 family.
No data available for Gene Families for FAM83A Gene
Function for FAM83A Gene
Molecular function for FAM83A Gene
- UniProtKB/Swiss-Prot Function:
- Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0019901 | protein kinase binding | IPI | 22886303 |
| GO:0036312 | phosphatidylinositol 3-kinase regulatory subunit binding | IDA | 22886303 |
Phenotypes for FAM83A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FAM83A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM83A gene
- Search ViGene Biosciences for FAM83A
CRISPR Products
-
OriGene CRISPR knockouts for FAM83A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM83A
- GenScript: Design CRISPR guide RNA sequences for FAM83A
miRNA for FAM83A Gene
- miRTarBase miRNAs that target FAM83A
miRNA Products
- Search ViGene Biosciences for FAM83A
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FAM83A
- Browse OriGene Inhibitory RNA Products For FAM83A
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM83A gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for FAM83A
Cell Line Products
-
Horizon Cell Lines for FAM83A
-
ViGene Biosciences adenoviral particle packaged cDNA for FAM83A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FAM83A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM83A gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83A Gene
Localization for FAM83A Gene
Subcellular locations from UniProtKB/Swiss-Prot for FAM83A Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for FAM83A Gene
No Data Available
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007173 | epidermal growth factor receptor signaling pathway | IDA | 22886303 |
| GO:0008283 | cell proliferation | IMP | 22886303 |
No data available for Pathways by source and SIGNOR curated interactions for FAM83A Gene
Transcripts for FAM83A Gene
mRNA/cDNA for FAM83A Gene
- (6) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (93) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FAM83A Gene
CRISPR Products
-
OriGene CRISPR knockouts for FAM83A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM83A
- GenScript: Design CRISPR guide RNA sequences for FAM83A
miRNA Products
- Search ViGene Biosciences for FAM83A
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FAM83A
- Browse OriGene Inhibitory RNA Products For FAM83A
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM83A gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for FAM83A
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||
| SP5: |
Expression for FAM83A Gene
mRNA differential expression in normal tissues according to GTEx for FAM83A Gene
This gene is overexpressed in Esophagus - Mucosa (x27.4), Vagina (x10.4), and Cervix - Ectocervix (x4.6).
This gene is overexpressed in Cervix (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM83A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FAM83A Gene:
FAM83ASOURCE GeneReport for Unigene cluster for FAM83A Gene:
Hs.379821Evidence on tissue expression from TISSUES for FAM83A Gene
- Lung(4.3)
- Pancreas(4.1)
- Thyroid gland(4)
Primer Products
-
OriGene qPCR primer pairs for FAM83A
-
OriGene qPCR primer pairs and template standards for FAM83A
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83A Gene
Orthologs for FAM83A Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FAM83A 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FAM83A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FAM83A 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fam83a 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fam83a 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FAM83A 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAM83A 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FAM83A 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FAM83A 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fam83a 34 |
|
||
| Str.11910 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68960 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC799983 34 |
|
||
| FAM83A 35 |
|
OneToOne |
- Species where no ortholog for FAM83A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for FAM83A Gene
Variants for FAM83A Gene
| SNP ID | Clin | Chr 08 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000136647 | -- | 123,205,445(+) | GGGGG(G/T)GTGGG | intron-variant | |
| rs1000300310 | -- | 123,192,680(+) | TCCTC(C/T)GGGAG | intron-variant | |
| rs1000610196 | -- | 123,179,809(+) | GGATA(C/T)TCACC | upstream-variant-2KB, utr-variant-5-prime | |
| rs1000671024 | -- | 123,179,193(+) | TTCAT(A/G)TGTTG | upstream-variant-2KB, utr-variant-5-prime | |
| rs1000673961 | -- | 123,178,548(+) | AACAC(C/T)CCTGG | upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3412283 | CNV | duplication | 20981092 |
| esv3618663 | CNV | loss | 21293372 |
| nsv1032827 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.62;
78.21% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FAM83A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FAM83A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83A Gene
Disorders for FAM83A Gene
Relevant External Links for FAM83A
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FAM83A
No disorders were found for FAM83A Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM83A Gene
Publications for FAM83A Gene
- FAM83A confers EGFR-TKI resistance in breast cancer cells and in mice. (PMID: 22886303) Lee S.Y. … Bissell M.J. (J. Clin. Invest. 2012) 2 3 4 64
- Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. (PMID: 24736947) Cipriano R. … Jackson M.W. (Mol. Cancer Res. 2014) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
- A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64
Products for FAM83A Gene
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- Custom Antibody ServicesOriGene Antibodies for FAM83A
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- Search Origene for MassSpec and Protein Over-expression Lysates for FAM83A
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- OriGene qPCR primer pairs for FAM83A
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- Novus Biologicals lysates for FAM83A
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Addgene plasmids for FAM83A
- Search GeneTex for Antibodies for FAM83A
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- ViGene Biosciences adenoviral particle packaged cDNA for FAM83A gene
- ViGene Biosciences lentiviral particle packaged cDNA for FAM83A gene
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- Search ViGene Biosciences for FAM83A
- Horizon Cell Lines for FAM83A
- Cyagen custom Knockout/knockin (KOKI) mouse models for FAM83A
- VectorBuilder custom plasmid, inducible vectors for FAM83A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FAM83A
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FAM83A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer