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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
  • Constitutive Coactivator Of PPAR-Gamma-Like Protein 2 3
  • 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. Diseases associated with FAM120C include Aarskog-Scott Syndrome. 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 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
GH0XF053223 0.2 ENCODE 12.5 +958.5 958547 2.9 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ACTG1P10 ENSG00000227329 RPSAP62 SSXP5 SSX7 XAGE1A XAGE1B RPL7AP71 KDM5C FAM120C
GH0XF054171 0.6 ENCODE 5.8 +11.5 11479 1.1 ZNF121 ATF2 SP7 FAM120C RPL37P24
GH0XF054042 0.2 ENCODE 5.6 +138.9 138890 3.8 PKNOX1 CREB3L1 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FOS KLF13 KDM5C KANTR RPL7AP71 RPSAP62 APEX2 ACTG1P10 ENSG00000270189 FGD1 ENSG00000227329 GPR173
GH0XF054177 1.1 FANTOM5 ENCODE 4.9 +2.6 2580 6.9 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 FOS SP3 YY2 RPL7AP71 RPSAP62 TSR2 ENSG00000233250 FAM120C RPL37P24
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000071744 1581 5000 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 SP3 YY2 SMARCB1

Genomic Location for FAM120C Gene

Chromosome:
X
Start:
54,068,324 bp from pter
End:
54,183,281 bp from pter
Size:
114,958 bases
Orientation:
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:
    Q9NX05-F120C_HUMAN
    Recommended name:
    Constitutive coactivator of PPAR-gamma-like protein 2
    Protein Accession:
    Q9NX05
    Secondary Accessions:
    • B2RMT7

    Protein attributes for FAM120C Gene

    Size:
    1096 amino acids
    Molecular mass:
    120588 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM120C Gene

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

Q9NX05

UniProtKB/Swiss-Prot:

F120C_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 FAM120C: view

No data available for Gene Families for FAM120C Gene

Function for FAM120C Gene

Gene Ontology (GO) - Molecular Function for FAM120C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with FAM120C: view

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

miRNA for FAM120C Gene

miRTarBase miRNAs that target FAM120C

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for FAM120C Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for FAM120C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with FAM120C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM120C Gene

Pathways & Interactions for FAM120C Gene

SuperPathways for FAM120C Gene

No Data Available

Interacting Proteins for FAM120C Gene

Gene Ontology (GO) - Biological Process for FAM120C Gene

None

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

Transcripts for FAM120C Gene

Unigene Clusters for FAM120C Gene

Family with sequence similarity 120C:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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: -
SP2:
SP3:

Relevant External Links for FAM120C Gene

GeneLoc Exon Structure for
FAM120C
ECgene alternative splicing isoforms for
FAM120C

Expression for FAM120C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FAM120C Gene



Protein tissue co-expression partners for FAM120C Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM120C Gene:

FAM120C

SOURCE GeneReport for Unigene cluster for FAM120C Gene:

Hs.86045

mRNA Expression by UniProt/SwissProt for FAM120C Gene:

Q9NX05-F120C_HUMAN
Tissue specificity: Expressed at low levels in a number of tissues.
genes like me logo Genes that share expression patterns with FAM120C: 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 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
chimpanzee
(Pan troglodytes)
Mammalia FAM120C 34 35
  • 97.14 (n)
dog
(Canis familiaris)
Mammalia FAM120C 34 35
  • 93.04 (n)
mouse
(Mus musculus)
Mammalia Fam120c 34 16 35
  • 89.99 (n)
cow
(Bos Taurus)
Mammalia FAM120C 34 35
  • 88.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM120C 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM120C 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM120C 35
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fam120c 34 35
  • 64.8 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2916 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
ManyToMany
-- 35
  • 34 (a)
ManyToMany
Species where no ortholog for FAM120C 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)
  • 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

ENSEMBL:
Gene Tree for FAM120C (if available)
TreeFam:
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
rs10710810 -- 54,095,376(+) ACATC(-/T)TTTTT intron-variant
rs11091329 -- 54,163,940(+) TATAt(A/T)ttttt intron-variant
rs111258233 -- 54,109,431(+) CAGCT(G/T)GGGCA intron-variant
rs111273929 -- 54,145,500(+) AGGAT(A/C)TGAAA intron-variant
rs111275729 -- 54,086,927(+) CAAAA(A/G)ACAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4241n106 CNV duplication 24896259
esv2740175 CNV deletion 23290073
nsv1078112 CNV duplication 25765185
nsv1115266 CNV deletion 24896259
nsv1115267 CNV deletion 24896259
nsv1149689 CNV duplication 26484159
nsv435891 CNV deletion 17901297
nsv953416 CNV duplication 24416366

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)

Relevant External Links for FAM120C Gene

Human Gene Mutation Database (HGMD)
FAM120C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM120C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM120C Gene

Disorders for FAM120C Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM120C Gene - From: DISEASES

Disorder Aliases PubMed IDs
aarskog-scott syndrome
  • aarskog syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM120C

Genetic Association Database (GAD)
FAM120C
Human Genome Epidemiology (HuGE) Navigator
FAM120C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM120C
genes like me logo Genes that share disorders with FAM120C: view

No data available for 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 22 64
  2. Autism-associated familial microdeletion of Xp11.22. (PMID: 18498374) Qiao Y. … Lewis M.E. (Clin. Genet. 2008) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for FAM120C Gene

Sources for FAM120C Gene

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