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FAM83G Gene(Protein Coding)

Family With Sequence Similarity 83 Member G

GCID:
GC17M018968
GIFtS:
44
Genes Participants
UDN Logo

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

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 for FAM83G Gene

  • May regulate the bone morphogenetic proteins (BMP) pathway.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83G Gene

Genomics for FAM83G Gene

Products:

  1. Regulatory Element

Regulatory Elements for FAM83G Gene

Enhancers for FAM83G Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G018962 1.4 Ensembl ENCODE dbSUPER 12.6 +41.6 41639 1.9 ELF3 ATF1 ARID4B DMAP1 YY1 RARA SLC30A9 EGR2 HMG20B SP5 FAM83G ENSG00000196893 ENSG00000263045
GH17G018966 1.3 Ensembl ENCODE dbSUPER 13.2 +36.0 36017 3.9 CTCF KLF1 KLF17 ZIC2 ZNF121 HIC1 ZFHX2 GLIS2 ZBTB48 SCRT2 FAM83G ENSG00000212618 DRG2 ENSG00000196893 ENSG00000263045
GH17G019006 1.3 ENCODE dbSUPER 10.4 +2.1 2061 6.8 PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF143 FOS ZNF263 ENSG00000212618 FAM83G EPN2 GC17P019000
GH17G018996 0.9 dbSUPER 10.3 +7.2 7155 2.9 HDGF PKNOX1 TCF12 GATA2 ZNF207 ETV6 RELB CREM IKZF2 ZNF263 ENSG00000212618 FAM83G ENSG00000230197 GC17P019000 ENSG00000263045
GH17G019000 0.9 dbSUPER 10.3 +7.1 7055 2.6 HDGF PKNOX1 TCF12 GATA2 ZNF207 ETV6 RELB CREM IKZF2 ZNF263 ENSG00000212618 FAM83G GC17P019000 ENSG00000263045
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM83G on UCSC Golden Path with GeneCards custom track

Promoters for FAM83G Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092146 504 1401 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ELK1 ZNF143 KLF7 FOS

Transcription factor binding sites by QIAGEN in the FAM83G gene promoter:

Genomic Location for FAM83G Gene

Chromosome:
17
Start:
18,968,789 bp from pter
End:
19,004,804 bp from pter
Size:
36,016 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for FAM83G Gene

Proteins for FAM83G Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    A6ND36-FA83G_HUMAN
    Recommended name:
    Protein FAM83G
    Protein Accession:
    A6ND36
    Secondary Accessions:
    • Q3KQZ4
    • Q6ZW60

    Protein attributes for FAM83G Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM83G Gene

Protein Expression for FAM83G Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM83G Gene

Domains & Families for FAM83G Gene

Protein Domains for FAM83G Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM83G Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6ND36

UniProtKB/Swiss-Prot:

FA83G_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83G: view

No data available for Gene Families for FAM83G Gene

Function for FAM83G Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:

Animal Model Products

CRISPR Products

miRNA for FAM83G Gene

miRTarBase miRNAs that target FAM83G

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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 FAM83G gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for FAM83G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 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

SuperPathways for FAM83G Gene

PathCards logo More details on SuperPathways for FAM83G
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FAM83G Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FAM83G Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM83G Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83G Gene

No ASD Table

Relevant External Links for FAM83G Gene

GeneLoc Exon Structure for
FAM83G
ECgene alternative splicing isoforms for
FAM83G

Expression for FAM83G Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for FAM83G Gene
mRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for FAM83G Gene



Protein tissue co-expression partners for FAM83G Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM83G Gene:

FAM83G

SOURCE GeneReport for Unigene cluster for FAM83G Gene:

Hs.710727

Evidence on tissue expression from TISSUES for FAM83G Gene

  • Liver(4.1)
  • Bone(4)
genes like me logo Genes that share expression patterns with FAM83G: view

Primer Products

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
chimpanzee
(Pan troglodytes)
 Mammalia FAM83G 34 35
  • 99.31 (n)
dog
(Canis familiaris)
 Mammalia FAM83G 34 35
  • 84.66 (n)
cow
(Bos Taurus)
 Mammalia FAM83G 34 35
  • 84.28 (n)
mouse
(Mus musculus)
 Mammalia Fam83g 34 16 35
  • 82.92 (n)
rat
(Rattus norvegicus)
 Mammalia Fam83g 34
  • 82.45 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia FAM83G 35
  • 63 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia FAM83G 35
  • 62 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FAM83G 34 35
  • 78.67 (n)
lizard
(Anolis carolinensis)
 Reptilia FAM83G 35
  • 52 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fam83g 34
  • 63.39 (n)
zebrafish
(Danio rerio)
 Actinopterygii FAM83G (1 of 2) 35
  • 44 (a)
 OneToMany
FAM83G (2 of 2) 35
  • 19 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for FAM83G (if available)
TreeFam:
Gene Tree for FAM83G (if available)

Paralogs for FAM83G Gene

Paralogs for FAM83G Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000017554 -- 18,979,406(+) CAGGC(-/G)GGCAG intron-variant
rs1000108166 -- 19,005,577(+) GGATG(C/G)GGCTG intron-variant, upstream-variant-2KB
rs1000119288 -- 18,982,264(+) CTCAG(C/G)AGCAG intron-variant
rs1000156355 -- 18,968,490(+) GGGCT(A/G)TGTCC intron-variant, downstream-variant-500B
rs1000190467 -- 18,982,965(+) AGGTG(A/G)GGCCC 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)

Relevant External Links for FAM83G Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83G

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

Disorders for FAM83G Gene

Relevant External Links for FAM83G

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 G.P. (Open Biol 2014) 2 3 4 64
  2. The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g. (PMID: 23656696) Radden L.A. … King T.R. (BMC Res Notes 2013) 2 3 64
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for FAM83G Gene

Sources for FAM83G Gene

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