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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 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. Among its related pathways are RXR and RAR heterodimerization with other nuclear receptor. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around FAM120B on UCSC Golden Path with GeneCards custom track

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

Proteomics data for FAM120B Gene at MOPED

Post-translational modifications for FAM120B Gene

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

Other Protein References for FAM120B Gene

Antibody Products

No data available for DME Specific Peptides for FAM120B Gene

Domains & Families for FAM120B Gene

Protein Domains for FAM120B Gene

InterPro:
ProtoNet:

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

CRISPR 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
Jensen Localization Image for FAM120B Gene COMPARTMENTS Subcellular localization image for FAM120B gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for FAM120B Gene

Pathways & Interactions for FAM120B Gene

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

Pathways by source for FAM120B Gene

1 BioSystems pathway 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:0030154 cell differentiation IEA --
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:

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 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



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

Protein tissue co-expression partners for FAM120B Gene

- Elite partner

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
dog
(Canis familiaris)
Mammalia FAM120B 35
  • 82.77 (n)
  • 80 (a)
FAM120B 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam120b 35
  • 75.31 (n)
  • 73.88 (a)
Fam120b 16
Fam120b 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM120B 35
  • 99.17 (n)
  • 98.86 (a)
FAM120B 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam120b 35
  • 79.19 (n)
  • 80.64 (a)
cow
(Bos Taurus)
Mammalia FAM120B 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM120B 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM120B 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM120B 35
  • 61.97 (n)
  • 54.13 (a)
FAM120B 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM120B 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam120b 35
  • 58.97 (n)
  • 51.68 (a)
zebrafish
(Danio rerio)
Actinopterygii fam120b 35
  • 53.88 (n)
  • 47.75 (a)
fam120b 36
  • 45 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
-- 36
  • 16 (a)
ManyToMany
Species with no ortholog for FAM120B:
  • 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
rs6917485 - 170,318,498(+) ATACA(G/T)ATTCT intron-variant, reference, missense
rs6905356 - 170,318,526(+) TCCCA(C/T)GTGTT intron-variant, reference, missense
rs6900199 - 170,318,673(+) CATGT(A/G)TACAG intron-variant, reference, missense
rs6900202 - 170,318,679(+) TACAG(A/G)CTCTG intron-variant, reference, missense
rs6905610 - 170,318,681(+) CAGAC(C/T)CTGAA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv7054n71 CNV Loss 21882294
nsv464226 CNV Loss 19166990
dgv2040e1 CNV Complex 17122850
esv344 CNV CNV 17122850
nsv428158 CNV Gain 18775914
nsv8016 CNV Gain 18304495
nsv8017 CNV Gain+Loss 18304495
esv2673814 CNV Deletion 23128226
dgv7055n71 CNV Gain 21882294
nsv509178 CNV Insertion 20534489
nsv510954 CNV Complex 20534489
esv2656495 CNV Deletion 23128226
esv28253 CNV Loss 19812545
nsv8018 CNV Loss 18304495
nsv499527 CNV Gain 21111241
esv995563 CNV Loss 20482838
nsv511934 CNV Loss 21212237
nsv522949 CNV Loss 19592680
esv33609 CNV Gain 17666407
nsv5604 CNV Insertion 18451855
nsv5605 CNV Insertion 18451855
esv1391753 CNV Insertion 17803354
nsv509179 CNV Insertion 20534489
esv1000363 CNV Insertion 20482838
nsv8019 CNV Gain 18304495
nsv821571 CNV Deletion 20802225
esv25729 CNV Gain 19812545
esv993022 CNV Gain 20482838
esv2676691 CNV Deletion 23128226
esv1002776 CNV Insertion 20482838
dgv7056n71 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
FAM120B
Human Gene Mutation Database (HGMD)
FAM120B

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

Disorders for FAM120B Gene

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

No disorders were found for FAM120B Gene.

No data available for MalaCards , 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PMID: 24163370) Lu L. … Zhang L. (J. Biol. Chem. 2013) 3
  4. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. (PMID: 21980299) Bradfield J.P. … Hakonarson H. (PLoS Genet. 2011) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for FAM120B Gene

Sources for FAM120B Gene

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