Aliases for FAM120A Gene

Aliases for FAM120A Gene

  • Family With Sequence Similarity 120A 2 3 5
  • OSSA 2 3 4
  • Constitutive Coactivator Of PPAR-Gamma-Like Protein 1 3 4
  • Oxidative Stress-Associated Src Activator 3 4
  • Oxidative Stess-Associated Src Activator 2 3
  • KIAA0183 2 4
  • C9orf10 3 4
  • Chromosome 9 Open Reading Frame 10 2
  • Protein FAM120A 4
  • HBVPTPAP 3
  • FAM120A 5

External Ids for FAM120A Gene

Previous HGNC Symbols for FAM120A Gene

  • C9orf10

Previous GeneCards Identifiers for FAM120A Gene

  • GC09P095253
  • GC09P096214
  • GC09P065891
  • GC09P093471
  • GC09P093497
  • GC09P093506
  • GC09P093507
  • GC09P093513
  • GC09P093523
  • GC09P093498
  • GC09P093499
  • GC09P093500
  • GC09P093501
  • GC09P093502
  • GC09P093503
  • GC09P093504
  • GC09P093505

Summaries for FAM120A Gene

GeneCards Summary for FAM120A Gene

FAM120A (Family With Sequence Similarity 120A) is a Protein Coding gene. Diseases associated with FAM120A include Retinitis Pigmentosa 59 and Myiasis. An important paralog of this gene is FAM120C.

UniProtKB/Swiss-Prot Summary for FAM120A Gene

  • May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses.

Gene Wiki entry for FAM120A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM120A Gene

Genomics for FAM120A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM120A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J093449 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.9 909 5.6 SP1 CREB1 PRDM10 REST SOX13 IKZF1 POLR2A BACH1 FOS ZNF300 FAM120A FAM120AOS lnc-FAM120AOS-3 piR-37751 piR-49068 piR-47534 PHF2 ENSG00000232063 RNU6-829P piR-51756
GH09J093533 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.2 +80.5 80452 0.1 FAM120A lnc-PHF2-1 RF00017-7721 PHF2 FAM120AOS
GH09J093056 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -390.2 -390151 9.5 SP1 HNRNPL GATAD2A TEAD4 LEF1 IKZF1 KDM1A POLR2A ZNF7 BACH1 SUSD3 NOL8 MTND4P15 FGD3 CARD19 ENSG00000223446 MTCO3P29 IARS1 FAM120A FAM120AOS
GH09J093585 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +138.4 138416 9.8 GATAD2A CTCF RFX1 IKZF1 RCOR2 JUND GABPA ZIC2 PKNOX1 IRF2 RNU6-829P FAM120A FAM120AOS MIR548AU PHF2 BARX1
GH09J093155 Enhancer 0.8 Ensembl dbSUPER 11.3 -295.2 -295185 1 ZNF143 SP1 PKNOX1 EED RUNX3 BCL11A IKZF1 POLR2A JUNB SMARCA5 NINJ1 FAM120A FAM120AOS RNU6-829P RF00017-7718 RF00017-7717 RF00017-7719 WNK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM120A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM120A

Top Transcription factor binding sites by QIAGEN in the FAM120A gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • HNF-4alpha1
  • HNF-4alpha2
  • NCX
  • NF-kappaB
  • NF-kappaB1
  • Pax-5
  • RSRFC4

Genomic Locations for FAM120A Gene

Genomic Locations for FAM120A Gene
chr9:93,451,685-93,566,112
(GRCh38/hg38)
Size:
114,428 bases
Orientation:
Plus strand
chr9:96,214,004-96,328,397
(GRCh37/hg19)
Size:
114,394 bases
Orientation:
Plus strand

Genomic View for FAM120A Gene

Genes around FAM120A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM120A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM120A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM120A Gene

Proteins for FAM120A Gene

  • Protein details for FAM120A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZB2-F120A_HUMAN
    Recommended name:
    Constitutive coactivator of PPAR-gamma-like protein 1
    Protein Accession:
    Q9NZB2
    Secondary Accessions:
    • A6NGU0
    • C4AMC6
    • O60649
    • Q14688
    • Q4VXF4
    • Q4VXF5
    • Q4VXG2
    • Q86V69
    • Q96I21
    • Q9NZB1

    Protein attributes for FAM120A Gene

    Size:
    1118 amino acids
    Molecular mass:
    121888 Da
    Quaternary structure:
    • Interacts with PURA (By similarity). Interacts with YES1, SRC, FYN. Upon tyrosine phosphorylation, interacts with PIK3R1.
    SequenceCaution:
    • Sequence=AAF72866.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM120A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM120A Gene

Post-translational modifications for FAM120A Gene

  • Arg-982 is dimethylated, probably to asymmetric dimethylarginine.
  • Phosphorylated on tyrosine by src family kinases upon ultraviolet exposure.
  • Ubiquitination at Lys304, Lys818, Lys932, and Lys946
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for FAM120A
  • Boster Bio Antibodies for FAM120A

No data available for DME Specific Peptides for FAM120A Gene

Domains & Families for FAM120A Gene

Gene Families for FAM120A Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FAM120A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM120A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM120A (F120A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZB2

UniProtKB/Swiss-Prot:

F120A_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 FAM120A: view

Function for FAM120A Gene

Molecular function for FAM120A Gene

UniProtKB/Swiss-Prot Function:
May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses.

Phenotypes From GWAS Catalog for FAM120A Gene

Gene Ontology (GO) - Molecular Function for FAM120A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,HDA 22658674
genes like me logo Genes that share ontologies with FAM120A: view
genes like me logo Genes that share phenotypes with FAM120A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM120A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM120A Gene

Localization for FAM120A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM120A Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Note=Translocates to plasma membrane upon ultraviolet exposure.

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 FAM120A gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM120A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with FAM120A: view

Pathways & Interactions for FAM120A Gene

PathCards logo

SuperPathways for FAM120A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM120A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM120A Gene

Drugs & Compounds for FAM120A Gene

No Compound Related Data Available

Transcripts for FAM120A Gene

mRNA/cDNA for FAM120A Gene

4 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM120A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM120A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6: -
SP7: -
SP8: -
SP9:
SP10:
SP11:

ExUns: 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for FAM120A Gene

GeneLoc Exon Structure for
FAM120A

Expression for FAM120A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM120A Gene

Protein differential expression in normal tissues from HIPED for FAM120A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.5) and Islet of Langerhans (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM120A Gene



Protein tissue co-expression partners for FAM120A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM120A

SOURCE GeneReport for Unigene cluster for FAM120A Gene:

Hs.372003

mRNA Expression by UniProt/SwissProt for FAM120A Gene:

Q9NZB2-F120A_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in scirrhous-type gastric cancer tissues compared with normal gastric mucosa (at protein level).

Evidence on tissue expression from TISSUES for FAM120A Gene

  • Lung(4.7)
  • Nervous system(4.6)
  • Liver(4.5)
  • Bone marrow(4.3)
  • Bone(2.8)
  • Muscle(2.4)
  • Intestine(2.3)
  • Skin(2.2)
  • Stomach(2.2)
  • Heart(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with FAM120A: view

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 FAM120A Gene

Orthologs for FAM120A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM120A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C9ORF10 31
  • 100 (a)
OneToOne
FAM120A 30
  • 99.7 (n)
Mouse
(Mus musculus)
Mammalia Fam120a 30 17 31
  • 91.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam120a 30
  • 91.91 (n)
Cow
(Bos Taurus)
Mammalia FAM120A 30 31
  • 91.26 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM120A 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM120A 30 31
  • 87.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM120A 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM120A 30 31
  • 85.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 87 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam120a 30
  • 77.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii FAM120A 31
  • 70 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
Species where no ortholog for FAM120A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 FAM120A Gene

ENSEMBL:
Gene Tree for FAM120A (if available)
TreeFam:
Gene Tree for FAM120A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM120A: view image

Paralogs for FAM120A Gene

Paralogs for FAM120A Gene

(2) SIMAP similar genes for FAM120A Gene using alignment to 1 proteins:

  • F120A_HUMAN

Pseudogenes.org Pseudogenes for FAM120A Gene

genes like me logo Genes that share paralogs with FAM120A: view

Variants for FAM120A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM120A Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
733835 Likely Benign: not provided 93,452,439(+) CT/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs11541747 - p.Tyr327His

Additional dbSNP identifiers (rs#s) for FAM120A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM120A Gene

Variant ID Type Subtype PubMed ID
esv2662964 CNV deletion 23128226
esv3621102 CNV gain 21293372
esv3621103 CNV loss 21293372
nsv1075663 CNV deletion 25765185
nsv824984 CNV gain 20364138
nsv950899 CNV duplication 24416366
nsv968730 CNV duplication 23825009
nsv968731 CNV duplication 23825009

Variation tolerance for FAM120A Gene

Residual Variation Intolerance Score: 2.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM120A Gene

Human Gene Mutation Database (HGMD)
FAM120A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM120A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM120A Gene

Disorders for FAM120A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM120A Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 59
  • rp59
myiasis
  • infestation by fly larvae
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM120A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FAM120A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM120A Gene

Publications for FAM120A Gene

  1. A novel RNA-binding protein, Ossa/C9orf10, regulates activity of Src kinases to protect cells from oxidative stress-induced apoptosis. (PMID: 19015244) Tanaka M … Sakai R (Molecular and cellular biology 2009) 2 3 4
  2. 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
  3. IL13 Receptor α2 Signaling Requires a Scaffold Protein, FAM120A, to Activate the FAK and PI3K Pathways in Colon Cancer Metastasis. (PMID: 25896327) Bartolomé RA … Casal JI (Cancer research 2015) 2 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4

Products for FAM120A Gene

Sources for FAM120A Gene