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Aliases for FAM120C Gene

Aliases for FAM120C Gene

  • Family With Sequence Similarity 120C 2 3 5
  • Tumor Antigen BJ-HCC-21 3 4
  • CXorf17 3 4
  • Chromosome X Open Reading Frame 17 2
  • Protein FAM120C 4
  • ORF34 3

External Ids for FAM120C Gene

Previous HGNC Symbols for FAM120C Gene

  • CXorf17

Previous GeneCards Identifiers for FAM120C Gene

  • GC0XM054111
  • GC0XM051147

Summaries for FAM120C Gene

Entrez Gene Summary for FAM120C Gene

  • This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for FAM120C Gene

FAM120C (Family With Sequence Similarity 120C) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is FAM120A.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM120C Gene

Genomics for FAM120C Gene

Regulatory Elements for FAM120C Gene

Enhancers for FAM120C 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 FAM120C on UCSC Golden Path with GeneCards custom track

Promoters for FAM120C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM120C on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM120C Gene

54,068,324 bp from pter
54,183,281 bp from pter
114,958 bases
Minus strand

Genomic View for FAM120C Gene

Genes around FAM120C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM120C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM120C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM120C Gene

Proteins for FAM120C Gene

  • Protein details for FAM120C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Constitutive coactivator of PPAR-gamma-like protein 2
    Protein Accession:
    Secondary Accessions:
    • B2RMT7

    Protein attributes for FAM120C Gene

    1096 amino acids
    Molecular mass:
    120588 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAM82751.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAA91219.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM120C Gene


neXtProt entry for FAM120C Gene

Proteomics data for FAM120C Gene at MOPED

Post-translational modifications for FAM120C Gene

  • Ubiquitination at Lys 25
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM120C Gene

No data available for DME Specific Peptides for FAM120C Gene

Domains & Families for FAM120C Gene

Protein Domains for FAM120C Gene

Suggested Antigen Peptide Sequences for FAM120C Gene

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 FAM120C: view

No data available for Gene Families for FAM120C Gene

Function for FAM120C Gene

Phenotypes for FAM120C Gene

MGI mutant phenotypes for FAM120C:
inferred from 1 alleles
GenomeRNAi human phenotypes for FAM120C:
genes like me logo Genes that share phenotypes with FAM120C: view

Animal Model Products

CRISPR Products

miRNA for FAM120C Gene

miRTarBase miRNAs that target FAM120C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM120C Gene

Localization for FAM120C Gene

Subcellular locations from

Jensen Localization Image for FAM120C Gene COMPARTMENTS Subcellular localization image for FAM120C gene
Compartment Confidence
nucleus 4
cytosol 3
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM120C Gene

Pathways & Interactions for FAM120C Gene

SuperPathways for FAM120C Gene

No Data Available

Interacting Proteins for FAM120C Gene

Selected Interacting proteins: Q9NX05-F120C_HUMAN for FAM120C Gene via I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for FAM120C Gene


No data available for Pathways by source and SIGNOR curated interactions for FAM120C Gene

Drugs & Compounds for FAM120C Gene

No Compound Related Data Available

Transcripts for FAM120C Gene

Unigene Clusters for FAM120C Gene

Family with sequence similarity 120C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM120C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: -

Relevant External Links for FAM120C Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM120C Gene

mRNA expression in normal human tissues for FAM120C Gene

Protein differential expression in normal tissues from HIPED for FAM120C Gene

This gene is overexpressed in Lavage (44.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FAM120C Gene

SOURCE GeneReport for Unigene cluster for FAM120C Gene Hs.86045

mRNA Expression by UniProt/SwissProt for FAM120C Gene

Tissue specificity: Expressed at low levels in a number of tissues.
genes like me logo Genes that share expression patterns with FAM120C: view

Protein tissue co-expression partners for FAM120C Gene

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 FAM120C Gene

Orthologs for FAM120C Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM120C Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FAM120C 35
  • 88.88 (n)
  • 88.81 (a)
FAM120C 36
  • 87 (a)
(Canis familiaris)
Mammalia FAM120C 35
  • 93.04 (n)
  • 94.32 (a)
FAM120C 36
  • 90 (a)
(Mus musculus)
Mammalia Fam120c 35
  • 89.99 (n)
  • 92.47 (a)
Fam120c 16
Fam120c 36
  • 90 (a)
(Pan troglodytes)
Mammalia FAM120C 35
  • 97.14 (n)
  • 96.59 (a)
FAM120C 36
  • 100 (a)
(Monodelphis domestica)
Mammalia FAM120C 36
  • 61 (a)
(Ornithorhynchus anatinus)
Mammalia FAM120C 36
  • 73 (a)
(Anolis carolinensis)
Reptilia FAM120C 36
  • 68 (a)
(Danio rerio)
Actinopterygii fam120c 35
  • 64.8 (n)
  • 66.22 (a)
fam120c 36
  • 60 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2916 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
-- 36
  • 34 (a)
Species with no ortholog for FAM120C:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM120C Gene

Gene Tree for FAM120C (if available)
Gene Tree for FAM120C (if available)

Paralogs for FAM120C Gene

Paralogs for FAM120C Gene

(1) SIMAP similar genes for FAM120C Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAM120C: view

Variants for FAM120C Gene

Sequence variations from dbSNP and Humsavar for FAM120C Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs2495783 - 54,182,954(+) GCCGA(A/G)TCGGC reference, missense
rs41304786 - 54,085,752(+) AGTGG(C/T)ATGGA intron-variant, reference, missense
rs1894546 -- 54,171,614(+) gttag(G/T)tctta intron-variant
rs2495782 -- 54,171,885(+) ACTCT(A/G)AACAC intron-variant
rs2495793 -- 54,067,900(+) AGAAA(A/T)GAGGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for FAM120C Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073

Variation tolerance for FAM120C Gene

Residual Variation Intolerance Score: 5.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.70% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for FAM120C Gene

Disorders for FAM120C Gene

Relevant External Links for FAM120C

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for FAM120C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM120C Gene

Publications for FAM120C 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 23 67
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  3. A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism. (PMID: 25258334) De Wolf V. … Devriendt K. (Am. J. Med. Genet. A 2014) 3
  4. hnRNPA1 couples nuclear export and translation of specific mRNAs downstream of FGF-2/S6K2 signalling. (PMID: 25324306) Roy R. … Pardo O.E. (Nucleic Acids Res. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for FAM120C Gene

Sources for FAM120C Gene