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Aliases for FAM120B Gene

Aliases for FAM120B Gene

  • Family With Sequence Similarity 120B 2 3 5
  • Constitutive Coactivator Of PPAR-Gamma 2 3 4
  • KIAA1838 2 3 4
  • PPARgamma Constitutive Coactivator 1 2 3
  • PPARG Constitutive Coactivator 1 3 4
  • PGCC1 3 4
  • CCPG 3 4
  • Constitutive Coactivator Of Peroxisome Proliferator-Activated Receptor Gamma 3
  • Constitutive Coactivator Of PPARG 4
  • Protein FAM120B 4
  • DJ894D12.1 3

External Ids for FAM120B Gene

Previous HGNC Symbols for FAM120B Gene

  • KIAA1838

Previous GeneCards Identifiers for FAM120B Gene

  • GC06P170457
  • GC06P170616
  • GC06P168122

Summaries for FAM120B Gene

GeneCards Summary for FAM120B Gene

FAM120B (Family With Sequence Similarity 120B) is a Protein Coding gene. Diseases associated with FAM120B include Type 1 Diabetes Mellitus 8 and Nut Allergy. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. An important paralog of this gene is FAM120A.

UniProtKB/Swiss-Prot for FAM120B Gene

  • Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity).

Additional gene information for FAM120B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM120B Gene

Genomics for FAM120B Gene

GeneHancer (GH) Regulatory Elements for FAM120B Gene

Promoters and enhancers for FAM120B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I170305 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.3 +16.4 16427 3.4 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B FAM120B DLL1 WDR27 ENSG00000266896 ERMARD PSMB1 TBP MIR4644
GH06I170289 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 562.7 +0.4 351 3.3 RB1 ZNF76 SIN3A RAD21 ZNF335 GLIS2 ZNF213 ZNF143 EGR2 ZNF263 FAM120B DLL1 ENSG00000271234
GH06I169700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30.1 -588.4 -588350 4.6 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 WDR27 C6orf120 FAM120B TBP LINC02519 ENSG00000266896 PDCD2 PHF10 ENSG00000227704
GH06I170551 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.3 +262.9 262947 5 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC TBP PSMB1 PIR48716 ENSG00000266896 PDCD2 WDR27 FAM120B ERMARD
GH06I170295 Enhancer 1.3 Ensembl ENCODE dbSUPER 35.3 +5.5 5508 2.4 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 KLF13 SP3 TSHZ1 FAM120B WDR27 TBP LINC02519 LOC285804 ENSG00000271234 DLL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM120B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM120B gene promoter:

Genomic Locations for FAM120B Gene

Genomic Locations for FAM120B Gene
116,369 bases
Plus strand

Genomic View for FAM120B Gene

Genes around FAM120B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM120B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM120B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM120B Gene

Proteins for FAM120B Gene

  • Protein details for FAM120B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Constitutive coactivator of peroxisome proliferator-activated receptor gamma
    Protein Accession:
    Secondary Accessions:
    • B4DL34
    • Q86V68
    • Q96JI9

    Protein attributes for FAM120B Gene

    910 amino acids
    Molecular mass:
    103783 Da
    Quaternary structure:
    • Interacts with ESR1 and RXRA. Interacts with PPARG; in a ligand-independent manner (By similarity).
    • Sequence=BAB47467.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM120B Gene


neXtProt entry for FAM120B Gene

Post-translational modifications for FAM120B Gene

  • Ubiquitination at Lys299 and posLast=813813

No data available for DME Specific Peptides for FAM120B Gene

Domains & Families for FAM120B Gene

Gene Families for FAM120B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM120B Gene

Suggested Antigen Peptide Sequences for FAM120B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the constitutive coactivator of PPAR-gamma family.
  • Belongs to the constitutive coactivator of PPAR-gamma family.
genes like me logo Genes that share domains with FAM120B: view

Function for FAM120B Gene

Molecular function for FAM120B Gene

UniProtKB/Swiss-Prot Function:
Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity).

Phenotypes From GWAS Catalog for FAM120B Gene

Gene Ontology (GO) - Molecular Function for FAM120B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with FAM120B: view
genes like me logo Genes that share phenotypes with FAM120B: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM120B Gene

Localization for FAM120B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM120B Gene

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 FAM120B gene
Compartment Confidence
nucleus 4
plasma membrane 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for FAM120B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with FAM120B: view

Pathways & Interactions for FAM120B Gene

genes like me logo Genes that share pathways with FAM120B: view

Interacting Proteins for FAM120B Gene

Gene Ontology (GO) - Biological Process for FAM120B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0030154 cell differentiation IEA --
GO:0035357 peroxisome proliferator activated receptor signaling pathway IBA --
GO:0045444 fat cell differentiation IBA --
genes like me logo Genes that share ontologies with FAM120B: view

No data available for SIGNOR curated interactions for FAM120B Gene

Drugs & Compounds for FAM120B Gene

No Compound Related Data Available

Transcripts for FAM120B Gene

Unigene Clusters for FAM120B Gene

Family with sequence similarity 120B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM120B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - - -
SP2: -

Relevant External Links for FAM120B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM120B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM120B Gene

Protein differential expression in normal tissues from HIPED for FAM120B Gene

This gene is overexpressed in Nasal epithelium (23.4), Neutrophil (9.5), and Urine (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM120B Gene

Protein tissue co-expression partners for FAM120B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM120B Gene:


SOURCE GeneReport for Unigene cluster for FAM120B Gene:


mRNA Expression by UniProt/SwissProt for FAM120B Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for FAM120B Gene

  • Nervous system(4.8)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with FAM120B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM120B Gene

Orthologs for FAM120B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM120B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM120B 33 34
  • 99.17 (n)
(Canis familiaris)
Mammalia FAM120B 33 34
  • 82.77 (n)
(Rattus norvegicus)
Mammalia Fam120b 33
  • 79.19 (n)
(Mus musculus)
Mammalia Fam120b 33 16 34
  • 75.31 (n)
(Bos Taurus)
Mammalia FAM120B 34
  • 63 (a)
(Monodelphis domestica)
Mammalia FAM120B 34
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia FAM120B 34
  • 46 (a)
(Gallus gallus)
Aves FAM120B 33 34
  • 61.97 (n)
(Anolis carolinensis)
Reptilia FAM120B 34
  • 46 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam120b 33
  • 58.97 (n)
(Danio rerio)
Actinopterygii fam120b 33 34
  • 53.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
-- 34
  • 16 (a)
Species where no ortholog for FAM120B 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 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 FAM120B Gene

Gene Tree for FAM120B (if available)
Gene Tree for FAM120B (if available)

Paralogs for FAM120B Gene

Paralogs for FAM120B Gene

genes like me logo Genes that share paralogs with FAM120B: view

Variants for FAM120B Gene

Sequence variations from dbSNP and Humsavar for FAM120B Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000009209 -- 170,346,646(+) C/G intron_variant
rs1000039432 -- 170,306,914(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000045266 -- 170,346,348(+) T/A/C intron_variant
rs1000053028 -- 170,296,202(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000080221 -- 170,296,463(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM120B Gene

Variant ID Type Subtype PubMed ID
dgv11087n54 CNV loss 21841781
dgv3455n106 CNV duplication 24896259
dgv3456n106 CNV tandem duplication 24896259
dgv3724e59 CNV duplication 20981092
esv1000363 CNV insertion 20482838
esv1002776 CNV insertion 20482838
esv1391753 CNV insertion 17803354
esv25729 CNV gain 19812545
esv2656495 CNV deletion 23128226
esv2673814 CNV deletion 23128226
esv2676691 CNV deletion 23128226
esv2759497 CNV gain+loss 17122850
esv28253 CNV loss 19812545
esv33609 CNV gain 17666407
esv3429345 CNV duplication 20981092
esv3611733 CNV loss 21293372
esv3611734 CNV loss 21293372
esv3611735 CNV loss 21293372
esv7508 CNV gain 19470904
esv993022 CNV gain 20482838
esv995563 CNV loss 20482838
nsv1033491 CNV loss 25217958
nsv1074983 CNV deletion 25765185
nsv1078572 CNV duplication 25765185
nsv1112451 CNV deletion 24896259
nsv1148366 CNV deletion 26484159
nsv1150661 CNV duplication 26484159
nsv428158 CNV gain 18775914
nsv464226 CNV loss 19166990
nsv499527 CNV gain 21111241
nsv509178 CNV insertion 20534489
nsv509179 CNV insertion 20534489
nsv510954 OTHER complex 20534489
nsv511934 CNV loss 21212237
nsv522949 CNV loss 19592680
nsv5604 CNV insertion 18451855
nsv5605 CNV insertion 18451855
nsv605554 CNV loss 21841781
nsv8015 CNV gain 18304495
nsv8016 CNV gain 18304495
nsv8017 CNV gain+loss 18304495
nsv8018 CNV loss 18304495
nsv8019 CNV gain 18304495
nsv821571 CNV deletion 20802225
nsv823936 CNV gain 20364138
nsv823937 CNV gain 20364138
nsv949910 CNV duplication 24416366

Variation tolerance for FAM120B Gene

Residual Variation Intolerance Score: 61.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.10; 84.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM120B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM120B Gene

Disorders for FAM120B Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM120B Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 8
  • diabetes mellitus, insulin-dependent, 8
nut allergy
  • allergy to nuts
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM120B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM120B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM120B Gene

Publications for FAM120B Gene

  1. The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34. (PMID: 14585507) Holden S … Raymond FL (Gene 2003) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Constitutive coactivator of peroxisome proliferator-activated receptor (PPARgamma), a novel coactivator of PPARgamma that promotes adipogenesis. (PMID: 17595322) Li D … Wang DM (Molecular endocrinology (Baltimore, Md.) 2007) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 58

Products for FAM120B Gene

Sources for FAM120B Gene

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