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Aliases for FAM83C Gene

Aliases for FAM83C Gene

  • Family With Sequence Similarity 83 Member C 2 3 5
  • C20orf128 3 4
  • Family With Sequence Similarity 83, Member C 2
  • Chromosome 20 Open Reading Frame 128 2
  • Protein FAM83C 3
  • EC 6.3.5.3 56
  • DJ614O4.7 3
  • EC 1.6.5 56

External Ids for FAM83C Gene

Previous HGNC Symbols for FAM83C Gene

  • C20orf128

Previous GeneCards Identifiers for FAM83C Gene

  • GC20M033337
  • GC20M033874
  • GC20M030650
  • GC20M033875
  • GC20M033878
  • GC20M033882
  • GC20M033886

Summaries for FAM83C Gene

Entrez Gene Summary for FAM83C Gene

  • This gene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in regulating MAPK signaling in cancer cells. [provided by RefSeq, Mar 2017]

GeneCards Summary for FAM83C Gene

FAM83C (Family With Sequence Similarity 83 Member C) is a Protein Coding gene. An important paralog of this gene is FAM83H.

UniProtKB/Swiss-Prot for FAM83C Gene

  • May play a role in MAPK signaling.

Additional gene information for FAM83C Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83C Gene

Genomics for FAM83C Gene

GeneHancer (GH) Regulatory Elements for FAM83C Gene

Promoters and enhancers for FAM83C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I035292 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.8 0.0 -16 0.1 ZNF48 FAM83C UQCC1
GH20I035290 Enhancer 0.4 dbSUPER 550.8 +1.5 1517 1 RCOR1 REST FAM83C EIF6 FAM83C-AS1
GH20I035317 Enhancer 1.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 16.9 -27.3 -27326 5.1 PKNOX1 FOXA2 ARNT FEZF1 FOS SP3 MIER3 ZNF610 ZSCAN16 GLIS1 UQCC1 EIF6 FAM83C MMP24 FAM83C-AS1 MMP24OS NCOA6 EDEM2 RBM12 MIR499A
GH20I035275 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 17.6 +14.1 14112 5 HDGF ATF1 SIN3A ZNF48 ETS1 POLR2B GLIS2 ZNF143 KLF7 ATF7 MMP24OS ENSG00000261582 GC20M035276 GC20M035279 EIF6 FAM83C MMP24
GH20I035324 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.5 -35.2 -35178 5.3 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS DEK SP5 UQCC1 FAM83C EIF6 FAM83C-AS1 MMP24OS EDEM2 GDF5OS MMP24 CPNE1 FER1L4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM83C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM83C gene promoter:

Genomic Locations for FAM83C Gene

Genomic Locations for FAM83C Gene
chr20:35,285,731-35,292,422
(GRCh38/hg38)
Size:
6,692 bases
Orientation:
Minus strand
chr20:33,873,534-33,880,225
(GRCh37/hg19)

Genomic View for FAM83C Gene

Genes around FAM83C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM83C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM83C Gene

Proteins for FAM83C Gene

  • Protein details for FAM83C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQN1-FA83C_HUMAN
    Recommended name:
    Protein FAM83C
    Protein Accession:
    Q9BQN1
    Secondary Accessions:
    • Q14D67
    • Q5JWN6
    • Q8N276

    Protein attributes for FAM83C Gene

    Size:
    747 amino acids
    Molecular mass:
    81078 Da
    Quaternary structure:
    • May interact with RAF1.
    SequenceCaution:
    • Sequence=BAC03594.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for FAM83C Gene

Selected DME Specific Peptides for FAM83C Gene

Q9BQN1:
  • RGAPALS
  • PVYLLLA

Post-translational modifications for FAM83C Gene

No Post-translational modifications

Other Protein References for FAM83C Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FAM83C Gene

Gene Families for FAM83C Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FAM83C Gene

Suggested Antigen Peptide Sequences for FAM83C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQN1

UniProtKB/Swiss-Prot:

FA83C_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83C: view

Function for FAM83C Gene

Molecular function for FAM83C Gene

UniProtKB/Swiss-Prot Function:
May play a role in MAPK signaling.

Enzyme Numbers (IUBMB) for FAM83C Gene

Phenotypes From GWAS Catalog for FAM83C Gene

Gene Ontology (GO) - Molecular Function for FAM83C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IPI 24736947
genes like me logo Genes that share ontologies with FAM83C: view

Phenotypes for FAM83C Gene

genes like me logo Genes that share phenotypes with FAM83C: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83C Gene

Localization for FAM83C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM83C gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM83C Gene

Pathways & Interactions for FAM83C Gene

SuperPathways for FAM83C Gene

No Data Available

Interacting Proteins for FAM83C Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000363529%0d%0a9606.ENSP00000355377%0d%0a
Selected Interacting proteins: Q9BQN1-FA83C_HUMAN ENSP00000363529 for FAM83C Gene via IID STRING

Gene Ontology (GO) - Biological Process for FAM83C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM83C Gene

Drugs & Compounds for FAM83C Gene

No Compound Related Data Available

Transcripts for FAM83C Gene

mRNA/cDNA for FAM83C Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM83C Gene

Family with sequence similarity 83, member C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83C Gene

No ASD Table

Relevant External Links for FAM83C Gene

GeneLoc Exon Structure for
FAM83C
ECgene alternative splicing isoforms for
FAM83C

Expression for FAM83C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM83C Gene

mRNA differential expression in normal tissues according to GTEx for FAM83C Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x15.4), Skin - Not Sun Exposed (Suprapubic) (x14.7), Esophagus - Mucosa (x12.5), and Vagina (x4.9).

Protein differential expression in normal tissues from HIPED for FAM83C Gene

This gene is overexpressed in Heart (50.7) and Adipocyte (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM83C Gene



Protein tissue co-expression partners for FAM83C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM83C Gene:

FAM83C

SOURCE GeneReport for Unigene cluster for FAM83C Gene:

Hs.592149
genes like me logo Genes that share expression patterns with FAM83C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83C Gene

Orthologs for FAM83C Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM83C 33 34
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia FAM83C 33 34
  • 84.97 (n)
cow
(Bos Taurus)
Mammalia FAM83C 33 34
  • 84.34 (n)
mouse
(Mus musculus)
Mammalia Fam83c 33 16 34
  • 81.76 (n)
rat
(Rattus norvegicus)
Mammalia Fam83c 33
  • 81.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM83C 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM83C 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM83C 34
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR388068.1 34
  • 39 (a)
OneToOne
Species where no ortholog for FAM83C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM83C Gene

ENSEMBL:
Gene Tree for FAM83C (if available)
TreeFam:
Gene Tree for FAM83C (if available)

Paralogs for FAM83C Gene

Paralogs for FAM83C Gene

genes like me logo Genes that share paralogs with FAM83C: view

Variants for FAM83C Gene

Sequence variations from dbSNP and Humsavar for FAM83C Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs193920940 uncertain-significance, Malignant tumor of prostate 35,287,916(-) C/T coding_sequence_variant, missense_variant
rs1000003474 -- 35,292,898(-) G/A upstream_transcript_variant
rs1000150706 -- 35,286,300(-) C/T 3_prime_UTR_variant
rs1000354933 -- 35,293,074(-) A/G upstream_transcript_variant
rs1000752082 -- 35,288,775(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM83C Gene

Variant ID Type Subtype PubMed ID
nsv1059168 CNV loss 25217958
nsv585943 CNV loss 21841781
nsv954029 CNV deletion 24416366

Variation tolerance for FAM83C Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.59; 86.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM83C Gene

Human Gene Mutation Database (HGMD)
FAM83C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83C Gene

Disorders for FAM83C Gene

Additional Disease Information for FAM83C

No disorders were found for FAM83C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM83C Gene

Publications for FAM83C Gene

  1. Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. (PMID: 24736947) Cipriano R … Jackson MW (Molecular cancer research : MCR 2014) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  5. An investigation into the human serum "interactome". (PMID: 15174051) Zhou M … Conrads TP (Electrophoresis 2004) 3 58

Products for FAM83C Gene

Sources for FAM83C Gene

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