Aliases for FAM83F Gene

Aliases for FAM83F Gene

  • Family With Sequence Similarity 83 Member F 2 3 5
  • Protein FAM83F 3 4
  • Family With Sequence Similarity 83, Member F 2

External Ids for FAM83F Gene

Previous GeneCards Identifiers for FAM83F Gene

  • GC22P038716
  • GC22P040390
  • GC22P023353

Summaries for FAM83F Gene

GeneCards Summary for FAM83F Gene

FAM83F (Family With Sequence Similarity 83 Member F) is a Protein Coding gene. Diseases associated with FAM83F include Uterine Carcinosarcoma. An important paralog of this gene is FAM83G.

Additional gene information for FAM83F Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM83F Gene

Genomics for FAM83F Gene

GeneHancer (GH) Regulatory Elements for FAM83F Gene

Promoters and enhancers for FAM83F 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
GH22J039994 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 514.2 +3.7 3657 8.4 CTCF NRF1 MYC USF1 ZFX ZIC2 ZBTB11 TRIM28 KLF4 RFX1 FAM83F CACNA1I HSALNG0135529 piR-48940
GH22J040007 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 509.9 +14.4 14446 3.5 EP300 ZNF341 ZNF316 NFIC MAFF ZNF263 CEBPG MAFK CEBPB PBX2 FAM83F CACNA1I ENTHD1 GRAP2 TNRC6B MIEF1 HSALNG0135529 piR-48940
GH22J039995 Enhancer 0.9 ENCODE dbSUPER 500.7 -0.7 -727 0.2 MYC NCOR1 MYNN MAX EZH2 E2F6 TAL1 HDAC2 POLR2A BHLHE40 FAM83F HSALNG0135529 lnc-ENTHD1-3
GH22J039958 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.2 -34.3 -34303 4.5 CTCF SP1 JUND FOS EP300 ZBTB11 REST HES1 MYC TRIM22 ENSG00000225528 NONHSAG033977.2 FAM83F GRAP2 ENTHD1 CACNA1I MIEF1 TNRC6B lnc-ENTHD1-3
GH22J039530 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -461.9 -461853 4.6 FOXK2 ZBTB40 EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G USF1 RPS19BP1 lnc-RPL3-2 piR-35811 ATF4 RPL3 TNRC6B CACNA1I FAM83F MGAT3 ENSG00000228274
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM83F on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM83F

Top Transcription factor binding sites by QIAGEN in the FAM83F gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • Pax-5
  • POU2F1
  • POU2F1a
  • RelA
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for FAM83F Gene

Genomic Locations for FAM83F Gene
chr22:39,994,949-40,043,534
(GRCh38/hg38)
Size:
48,586 bases
Orientation:
Plus strand
chr22:40,390,953-40,439,533
(GRCh37/hg19)
Size:
48,581 bases
Orientation:
Plus strand

Genomic View for FAM83F Gene

Genes around FAM83F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM83F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM83F Gene

Proteins for FAM83F Gene

  • Protein details for FAM83F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEG4-FA83F_HUMAN
    Recommended name:
    Protein FAM83F
    Protein Accession:
    Q8NEG4
    Secondary Accessions:
    • Q96FD6

    Protein attributes for FAM83F Gene

    Size:
    500 amino acids
    Molecular mass:
    55486 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM83F Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM83F Gene

Post-translational modifications for FAM83F Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM83F Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM83F Gene

Domains & Families for FAM83F Gene

Gene Families for FAM83F Gene

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

Protein Domains for FAM83F Gene

Blocks:
  • Protein of unknown function DUF1669
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM83F Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM83F (FA83F_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NEG4

UniProtKB/Swiss-Prot:

FA83F_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83F: view

Function for FAM83F Gene

Phenotypes From GWAS Catalog for FAM83F Gene

genes like me logo Genes that share phenotypes with FAM83F: view

Animal Model Products

CRISPR Products

miRNA for FAM83F Gene

miRTarBase miRNAs that target FAM83F

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83F Gene

Localization for FAM83F 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 FAM83F gene
Compartment Confidence
nucleus 2
extracellular 1
cytosol 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM83F Gene

Pathways & Interactions for FAM83F Gene

PathCards logo

SuperPathways for FAM83F Gene

No Data Available

Interacting Proteins for FAM83F Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000330432 Q8NEG4-FA83F_HUMAN for FAM83F Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for FAM83F Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM83F Gene

Drugs & Compounds for FAM83F Gene

No Compound Related Data Available

Transcripts for FAM83F Gene

mRNA/cDNA for FAM83F Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83F Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - - -
SP3:

Relevant External Links for FAM83F Gene

GeneLoc Exon Structure for
FAM83F

Expression for FAM83F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM83F Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM83F Gene

This gene is overexpressed in Testis (x12.3), Esophagus - Mucosa (x5.6), Skin - Not Sun Exposed (Suprapubic) (x4.7), and Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for FAM83F Gene

This gene is overexpressed in Cerebrospinal fluid (27.6), Platelet (22.3), Pancreas (7.9), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM83F Gene



Protein tissue co-expression partners for FAM83F Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM83F

SOURCE GeneReport for Unigene cluster for FAM83F Gene:

Hs.197680
genes like me logo Genes that share expression patterns with FAM83F: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83F Gene

Orthologs for FAM83F Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83F Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM83F 31 30
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM83F 31 30
  • 86.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM83F 31 30
  • 85.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam83f 17 31 30
  • 83.44 (n)
rat
(Rattus norvegicus)
Mammalia Fam83f 30
  • 83.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM83F 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM83F 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM83F 31 30
  • 64.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM83F 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam83f 30
  • 62.05 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-165i8.3 30
  • 58.5 (n)
fam83fb 31
  • 36 (a)
OneToMany
FAM83F (2 of 2) 31
  • 32 (a)
OneToMany
Species where no ortholog for FAM83F 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)
  • 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)

Evolution for FAM83F Gene

ENSEMBL:
Gene Tree for FAM83F (if available)
TreeFam:
Gene Tree for FAM83F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM83F: view image

Paralogs for FAM83F Gene

Paralogs for FAM83F Gene

(2) SIMAP similar genes for FAM83F Gene using alignment to 1 proteins:

  • FA83F_HUMAN
genes like me logo Genes that share paralogs with FAM83F: view

Variants for FAM83F Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM83F Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
VAR_038136 A breast cancer sample p.Ala418Val
rs12330063 - p.Arg245Ser
rs35823589 - p.Gly353Ser
rs5995794 - p.Arg436Gly

Additional dbSNP identifiers (rs#s) for FAM83F Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM83F Gene

Variant ID Type Subtype PubMed ID
esv2452848 CNV insertion 19546169
esv2676686 CNV deletion 23128226
esv3375117 CNV duplication 20981092
esv3647769 CNV loss 21293372
esv3647771 CNV loss 21293372
nsv1109469 CNV deletion 24896259
nsv829229 CNV loss 20364138
nsv834201 CNV gain 17160897
nsv955160 CNV deletion 24416366

Variation tolerance for FAM83F Gene

Residual Variation Intolerance Score: 93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.58; 88.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM83F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83F Gene

Disorders for FAM83F Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM83F Gene - From: DISEASES

Disorder Aliases PubMed IDs
uterine carcinosarcoma
  • mixed mullerian sarcoma of uterus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM83F

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM83F: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM83F Gene

Publications for FAM83F Gene

  1. Fam83F induces p53 stabilisation and promotes its activity. (PMID: 30692643) Salama M … Blattner C (Cell death and differentiation 2019) 2 3 54
  2. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 41 54
  3. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54
  4. The Highly Expressed FAM83F Protein in Papillary Thyroid Cancer Exerts a Pro-Oncogenic Role in Thyroid Follicular Cells. (PMID: 30881348) Fuziwara CS … Kimura ET (Frontiers in endocrinology 2019) 3 54
  5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt KT … Blagoev B (Science signaling 2011) 4 54

Products for FAM83F Gene

Sources for FAM83F Gene