Aliases for FAM83G Gene

Aliases for FAM83G Gene

  • Family With Sequence Similarity 83 Member G 2 3 5
  • Protein Associated With SMAD1 2 3 4
  • Protein FAM83G 3 4
  • PAWS1 3 4
  • Family With Sequence Similarity 83, Member G 2

External Ids for FAM83G Gene

Previous GeneCards Identifiers for FAM83G Gene

  • GC17M018818
  • GC17M018816
  • GC17M018872
  • GC17M018440

Summaries for FAM83G Gene

GeneCards Summary for FAM83G Gene

FAM83G (Family With Sequence Similarity 83 Member G) is a Protein Coding gene. An important paralog of this gene is FAM83F.

UniProtKB/Swiss-Prot Summary for FAM83G Gene

Additional gene information for FAM83G Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM83G Gene

Genomics for FAM83G Gene

GeneHancer (GH) Regulatory Elements for FAM83G Gene

Promoters and enhancers for FAM83G Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM83G on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM83G gene promoter:
  • AREB6
  • c-Ets-1
  • Cart-1
  • E47
  • HEN1
  • HOXA5
  • NF-1
  • Olf-1
  • SEF-1 (1)

Genomic Locations for FAM83G Gene

Genomic Locations for FAM83G Gene
35,976 bases
Minus strand
36,016 bases
Minus strand

Genomic View for FAM83G Gene

Genes around FAM83G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM83G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM83G Gene

Proteins for FAM83G Gene

  • Protein details for FAM83G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM83G
    Protein Accession:
    Secondary Accessions:
    • Q3KQZ4
    • Q6ZW60

    Protein attributes for FAM83G Gene

    823 amino acids
    Molecular mass:
    90835 Da
    Quaternary structure:
    • Found in a macromolecular complex with SMAD1. Interacts with SMAD1 (via MH2 domain); in a SMAD4-independent manner.

    Alternative splice isoforms for FAM83G Gene


neXtProt entry for FAM83G Gene

Post-translational modifications for FAM83G Gene

  • BMP signaling induces the phosphorylation of PAWS1 by BMPR1A at Ser-610, Ser-614 and Ser-616. In response to BMP phosphorylation at Ser-610 is necessary for the activation of SMAD4-independent BMP target genes such as NEDD9 and ASNS.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM83G Gene

No data available for DME Specific Peptides for FAM83G Gene

Domains & Families for FAM83G Gene

Gene Families for FAM83G Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM83G Gene


Suggested Antigen Peptide Sequences for FAM83G Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM83G (FA83G_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM83 family.
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83G: view

Function for FAM83G Gene

Molecular function for FAM83G Gene

UniProtKB/Swiss-Prot Function:
May regulate the bone morphogenetic proteins (BMP) pathway.

Gene Ontology (GO) - Molecular Function for FAM83G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24554596
genes like me logo Genes that share ontologies with FAM83G: view
genes like me logo Genes that share phenotypes with FAM83G: view

Animal Models for FAM83G Gene

MGI Knock Outs for FAM83G:
  • Fam83g Fam83g<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for FAM83G Gene

miRTarBase miRNAs that target FAM83G

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM83G Gene

Localization for FAM83G Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM83G Gene

Cytoplasm, cytosol. Nucleus. Note=Detected predominantly in cytosolic. Upon BMP stimulation, a small portion of PAWS1 is detected in the nucleus. {ECO:0000269 PubMed:24554596}.

Subcellular locations from

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 FAM83G gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM83G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24554596
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 24554596
genes like me logo Genes that share ontologies with FAM83G: view

Pathways & Interactions for FAM83G Gene

PathCards logo

SuperPathways for FAM83G Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM83G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030509 BMP signaling pathway IDA 24554596
genes like me logo Genes that share ontologies with FAM83G: view

No data available for Pathways by source and SIGNOR curated interactions for FAM83G Gene

Drugs & Compounds for FAM83G Gene

No Compound Related Data Available

Transcripts for FAM83G Gene

mRNA/cDNA for FAM83G Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(4) 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 FAM83G Gene

No ASD Table

Relevant External Links for FAM83G Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM83G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM83G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM83G Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x7.7), Esophagus - Mucosa (x7.1), and Skin - Not Sun Exposed (Suprapubic) (x7.0).

Protein differential expression in normal tissues from HIPED for FAM83G Gene

This gene is overexpressed in Adipocyte (34.8), Heart (17.7), Esophagus (8.0), and Liver (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM83G Gene

Protein tissue co-expression partners for FAM83G Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM83G Gene:


SOURCE GeneReport for Unigene cluster for FAM83G Gene:


Evidence on tissue expression from TISSUES for FAM83G Gene

  • Bone(4.2)
  • Liver(4.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with FAM83G: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83G Gene

Orthologs for FAM83G Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83G Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM83G 33 32
  • 99.31 (n)
(Canis familiaris)
Mammalia FAM83G 33 32
  • 84.66 (n)
(Bos Taurus)
Mammalia FAM83G 33 32
  • 84.28 (n)
(Mus musculus)
Mammalia Fam83g 17 33 32
  • 82.92 (n)
(Rattus norvegicus)
Mammalia Fam83g 32
  • 82.45 (n)
(Ornithorhynchus anatinus)
Mammalia FAM83G 33
  • 63 (a)
(Monodelphis domestica)
Mammalia FAM83G 33
  • 62 (a)
(Gallus gallus)
Aves FAM83G 33 32
  • 78.67 (n)
(Anolis carolinensis)
Reptilia FAM83G 33
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam83g 32
  • 63.39 (n)
(Danio rerio)
Actinopterygii FAM83G (1 of 2) 33
  • 44 (a)
FAM83G (2 of 2) 33
  • 19 (a)
Species where no ortholog for FAM83G 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 FAM83G Gene

Gene Tree for FAM83G (if available)
Gene Tree for FAM83G (if available)
Evolutionary constrained regions (ECRs) for FAM83G: view image

Paralogs for FAM83G Gene

Paralogs for FAM83G Gene

(2) SIMAP similar genes for FAM83G Gene using alignment to 2 proteins:

  • K7EKG0_HUMAN Pseudogenes for FAM83G Gene

genes like me logo Genes that share paralogs with FAM83G: view

Variants for FAM83G Gene

Sequence variations from dbSNP and Humsavar for FAM83G Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000017554 -- 18,979,406(-) GGG/GG intron_variant
rs1000108166 -- 19,005,577(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000119288 -- 18,982,264(-) C/G intron_variant
rs1000156355 -- 18,968,490(-) G/A downstream_transcript_variant
rs1000190467 -- 18,982,965(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM83G Gene

Variant ID Type Subtype PubMed ID
dgv3116n100 CNV gain 25217958
dgv5491n54 CNV gain 21841781
dgv565e214 CNV gain 21293372
esv2758678 CNV gain+loss 17122850
esv33572 CNV gain 17666407
esv3572465 CNV gain 25503493
esv3892975 CNV loss 25118596
nsv1055999 CNV gain 25217958
nsv1057803 CNV loss 25217958
nsv428336 CNV gain+loss 18775914
nsv457699 CNV gain 19166990
nsv470581 CNV gain 18288195
nsv474110 CNV novel sequence insertion 20440878
nsv479430 CNV novel sequence insertion 20440878
nsv523721 CNV gain 19592680
nsv574552 CNV gain 21841781
nsv833390 CNV loss 17160897
nsv833391 CNV loss 17160897
nsv9504 CNV gain+loss 18304495
nsv953842 CNV deletion 24416366

Variation tolerance for FAM83G Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.50; 82.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM83G Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83G Gene

Disorders for FAM83G Gene

Additional Disease Information for FAM83G

No disorders were found for FAM83G Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM83G Gene

Publications for FAM83G Gene

  1. Protein associated with SMAD1 (PAWS1/FAM83G) is a substrate for type I bone morphogenetic protein receptors and modulates bone morphogenetic protein signalling. (PMID: 24554596) Vogt J … Sapkota GP (Open biology 2014) 2 3 4 56
  2. The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g. (PMID: 23656696) Radden LA … King TR (BMC research notes 2013) 2 3 56
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 56
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for FAM83G Gene

Sources for FAM83G Gene