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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 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).

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

Genomics for FAM120B Gene

Regulatory Elements for FAM120B Gene

Enhancers for FAM120B 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
GH06F170295 1 ENCODE 23.6 +5.7 5734 1.9 ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 SP3 TSHZ1 REST CBX8 FAM120B LOC105378147 LOC285804 ENSG00000271234
GH06F169750 1.2 ENCODE 18.4 -538.9 -538869 3.3 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 PSMB1 PDCD2 TBP ENSG00000266896 FAM120B WDR27 ENSG00000236173 ERMARD LOC105378147
GH06F169700 1.1 ENCODE 18.4 -588.4 -588350 4.6 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 C6orf120 FAM120B WDR27 LOC105378147 ENSG00000266896 PDCD2 TBP PHF10 ENSG00000227704
GH06F170400 0.8 ENCODE 23.5 +109.8 109766 0.5 ZSCAN5A HDGF YBX1 PLRG1 ZBTB40 ZKSCAN1 ZEB1 MTA3 CTBP1 ARID3A FAM120B TBP ENSG00000266896 PSMB1 PDCD2 LOC101929670 ENSG00000261003
GH06F170344 1.3 FANTOM5 Ensembl ENCODE 12.6 +54.5 54532 1.4 ESRRA JUN EBF1 ZIC2 ZNF316 CTBP1 POLR2A NFYB FOS MAFK ENSG00000261003 FAM120B GC06P170340 PIR39833 LOC105378155
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM120B on UCSC Golden Path with GeneCards custom track

Promoters for FAM120B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001234089 -103 3201 CTCF KLF1 SUZ12 ZNF76 EBF1 RAD21 GLIS2 POLR2A SCRT2 ZNF600

Genomic Location for FAM120B Gene

Chromosome:
6
Start:
170,290,703 bp from pter
End:
170,407,071 bp from pter
Size:
116,369 bases
Orientation:
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:
    Q96EK7-F120B_HUMAN
    Recommended name:
    Constitutive coactivator of peroxisome proliferator-activated receptor gamma
    Protein Accession:
    Q96EK7
    Secondary Accessions:
    • B4DL34
    • Q86V68
    • Q96JI9

    Protein attributes for FAM120B Gene

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

    Alternative splice isoforms for FAM120B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM120B Gene

Post-translational modifications for FAM120B Gene

  • Ubiquitination at Lys 299 and Lys 813
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAM120B Gene

Domains & Families for FAM120B Gene

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

Q96EK7

UniProtKB/Swiss-Prot:

F120B_HUMAN :
  • Belongs to the constitutive coactivator of PPAR-gamma family.
Family:
  • Belongs to the constitutive coactivator of PPAR-gamma family.
genes like me logo Genes that share domains with FAM120B: view

No data available for Gene Families for FAM120B Gene

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).
genes like me logo Genes that share phenotypes with FAM120B: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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

Gene Ontology (GO) - Cellular Components for FAM120B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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 IEA --
GO:0045444 fat cell differentiation IEA --
genes like me logo Genes that share ontologies with FAM120B: view

No data available for SIGNOR curated interactions for FAM120B Gene

Transcripts for FAM120B Gene

Unigene Clusters for FAM120B Gene

Family with sequence similarity 120B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
SP3:
SP4:

Relevant External Links for FAM120B Gene

GeneLoc Exon Structure for
FAM120B
ECgene alternative splicing isoforms for
FAM120B

Expression for FAM120B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

FAM120B

SOURCE GeneReport for Unigene cluster for FAM120B Gene:

Hs.369522

mRNA Expression by UniProt/SwissProt for FAM120B Gene:

Q96EK7-F120B_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with FAM120B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia FAM120B 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia FAM120B 34 35
  • 82.77 (n)
rat
(Rattus norvegicus)
Mammalia Fam120b 34
  • 79.19 (n)
mouse
(Mus musculus)
Mammalia Fam120b 34 16 35
  • 75.31 (n)
cow
(Bos Taurus)
Mammalia FAM120B 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM120B 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM120B 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM120B 34 35
  • 61.97 (n)
lizard
(Anolis carolinensis)
Reptilia FAM120B 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam120b 34
  • 58.97 (n)
zebrafish
(Danio rerio)
Actinopterygii fam120b 34 35
  • 53.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
ManyToMany
-- 35
  • 16 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for FAM120B (if available)
TreeFam:
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 Sequence Context AA Info Type
rs10081152 -- 170,407,171(+) GGCCA(C/T)GGCTC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1022614 -- 170,374,331(-) AACTT(G/T)CCATG intron-variant
rs1022615 -- 170,374,153(-) CTGCG(C/G)GGAGT intron-variant
rs10484503 -- 170,311,386(+) ATTTC(G/T)ACACT intron-variant
rs1054094 -- 170,383,077(+) GGAGC(A/G)CTGGA intron-variant

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

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

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)

Relevant External Links for FAM120B Gene

Human Gene Mutation Database (HGMD)
FAM120B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM120B

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

Disorders for FAM120B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM120B Gene - From: DISEASES

Disorder Aliases PubMed IDs
nut allergy
  • allergy to nuts
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM120B

Genetic Association Database (GAD)
FAM120B
Human Genome Epidemiology (HuGE) Navigator
FAM120B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM120B
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 F.L. (Gene 2003) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Constitutive coactivator of peroxisome proliferator-activated receptor (PPARgamma), a novel coactivator of PPARgamma that promotes adipogenesis. (PMID: 17595322) Li D. … Wang D.-M. (Mol. Endocrinol. 2007) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 Res. 2001) 3 4 64

Products for FAM120B Gene

Sources for FAM120B Gene

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