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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 Syndromic X-Linked Intellectual Disability Siderius Type and Aarskog-Scott Syndrome. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is FAM120A.

Additional gene information for FAM120C Gene

No data available for CIViC summary , 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
GH0XH053223 1.1 ENCODE 11.7 +958.5 958547 2 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 GPR173 FAM156B TSPYL2 ACTG1P10 KANTR RPSAP62 SSXP5 SSX7 XAGE1A XAGE1B
GH0XH054177 1.5 FANTOM5 Ensembl ENCODE 4.8 +2.6 2580 6 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 FOS RUNX3 DEK RPL7AP71 RPSAP62 TSR2 ENSG00000233250 FAM120C RPL37P24
GH0XH054042 1.1 ENCODE 5.6 +138.9 138890 3 PKNOX1 FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 KDM5C PHF8 ACTG1P10 SMC1A ENSG00000233250 TSPYL2 APEX2 GPR173 KANTR MAGED2
GH0XH054171 0.5 ENCODE 5.8 +11.5 11479 1 ZNF121 PRDM6 ATF7 ATF2 SP7 FAM120C RPL37P24
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000246728 881 3201 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 RUNX3 DEK SP3

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 posLast=2525
  • 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

Gene Families for FAM120C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for FAM120C Gene

Gene Ontology (GO) - Molecular Function for FAM120C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 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

CRISPR Products

miRNA for FAM120C Gene

miRTarBase miRNAs that target FAM120C

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM120C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for FAM120C 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 FAM120C gene
Compartment Confidence
nucleus 5
cytosol 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM120C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM120C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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, PaxDb, 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.

Evidence on tissue expression from TISSUES for FAM120C Gene

  • Nervous system(4.2)
  • Skin(4)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 97.14 (n)
dog
(Canis familiaris)
Mammalia FAM120C 34 33
  • 93.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam120c 33 16 34
  • 89.99 (n)
cow
(Bos Taurus)
Mammalia FAM120C 34 33
  • 88.88 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM120C 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM120C 34
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM120C 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fam120c 33 34
  • 64.8 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2916 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
ManyToMany
-- 34
  • 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
rs1000013251 -- 54,162,129(+) TCTCA(C/T)GATTC intron-variant
rs1000107714 -- 54,176,945(+) CTTCA(C/T)CTACC intron-variant
rs1000192837 -- 54,109,946(+) ATATC(A/T)ACTGT intron-variant
rs1000218077 -- 54,128,717(+) AAACA(C/T)CTTGC intron-variant
rs1000249354 -- 54,128,120(+) CACCA(C/T)CCAGA 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

(3) MalaCards diseases for FAM120C Gene - From: HGMD, DISEASES, and GeneCards

- 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 FL (Gene 2003) 2 3 4 22 60
  2. Autism-associated familial microdeletion of Xp11.22. (PMID: 18498374) Qiao Y … Lewis ME (Clinical genetics 2008) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 60

Products for FAM120C Gene

Sources for FAM120C Gene

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