Aliases for FAM122A Gene

Aliases for FAM122A Gene

  • Family With Sequence Similarity 122A 2 3 5
  • Protein FAM122A 3 4
  • C9orf42 3 4
  • Chromosome 9 Open Reading Frame 42 2

External Ids for FAM122A Gene

Previous HGNC Symbols for FAM122A Gene

  • C9orf42

Previous GeneCards Identifiers for FAM122A Gene

  • GC09P070584
  • GC09P071394
  • GC09P041240

Summaries for FAM122A Gene

GeneCards Summary for FAM122A Gene

FAM122A (Family With Sequence Similarity 122A) is a Protein Coding gene. An important paralog of this gene is FAM122B.

UniProtKB/Swiss-Prot Summary for FAM122A Gene

  • Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity. Potentiates ubiquitin-mediated proteasomal degradation of serine/threonine-protein phosphatase 2A catalytic subunit alpha (PPP2CA).

Additional gene information for FAM122A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM122A Gene

Genomics for FAM122A Gene

GeneHancer (GH) Regulatory Elements for FAM122A Gene

Promoters and enhancers for FAM122A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM122A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM122A

Top Transcription factor binding sites by QIAGEN in the FAM122A gene promoter:
  • ATF
  • Ik-3
  • MIF-1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • RFX1
  • Sox5
  • TBP
  • TFIID

Genomic Locations for FAM122A Gene

Genomic Locations for FAM122A Gene
chr9:68,780,048-68,785,566
(GRCh38/hg38)
Size:
5,519 bases
Orientation:
Plus strand
chr9:71,394,964-71,398,609
(GRCh37/hg19)
Size:
3,646 bases
Orientation:
Plus strand

Genomic View for FAM122A Gene

Genes around FAM122A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM122A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM122A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM122A Gene

Proteins for FAM122A Gene

  • Protein details for FAM122A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E09-F122A_HUMAN
    Recommended name:
    Protein FAM122A
    Protein Accession:
    Q96E09

    Protein attributes for FAM122A Gene

    Size:
    287 amino acids
    Molecular mass:
    30529 Da
    Quaternary structure:
    • Interacts with PPP2CA, PPP2R2A and PPP2R1A.

neXtProt entry for FAM122A Gene

Post-translational modifications for FAM122A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM122A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM122A Gene

Domains & Families for FAM122A Gene

Gene Families for FAM122A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM122A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM122A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM122A (F122A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96E09

UniProtKB/Swiss-Prot:

F122A_HUMAN :
  • Belongs to the FAM122 family.
Family:
  • Belongs to the FAM122 family.
genes like me logo Genes that share domains with FAM122A: view

Function for FAM122A Gene

Molecular function for FAM122A Gene

UniProtKB/Swiss-Prot Function:
Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity. Potentiates ubiquitin-mediated proteasomal degradation of serine/threonine-protein phosphatase 2A catalytic subunit alpha (PPP2CA).

Phenotypes From GWAS Catalog for FAM122A Gene

Gene Ontology (GO) - Molecular Function for FAM122A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004865 protein serine/threonine phosphatase inhibitor activity IMP 27588481
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with FAM122A: view
genes like me logo Genes that share phenotypes with FAM122A: view

Animal Model Products

CRISPR Products

miRNA for FAM122A Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM122A Gene

Localization for FAM122A 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 FAM122A gene
Compartment Confidence
nucleus 2
cytosol 2

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM122A Gene

Pathways & Interactions for FAM122A Gene

PathCards logo

SuperPathways for FAM122A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM122A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030307 positive regulation of cell growth IMP 27588481
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 27588481
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
genes like me logo Genes that share ontologies with FAM122A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM122A Gene

Drugs & Compounds for FAM122A Gene

No Compound Related Data Available

Transcripts for FAM122A Gene

mRNA/cDNA for FAM122A Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM122A Gene

No ASD Table

Relevant External Links for FAM122A Gene

GeneLoc Exon Structure for
FAM122A

Expression for FAM122A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM122A Gene

Protein differential expression in normal tissues from HIPED for FAM122A Gene

This gene is overexpressed in Placenta (27.3), Pancreas (25.8), and CD8 Tcells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM122A Gene



Protein tissue co-expression partners for FAM122A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM122A

SOURCE GeneReport for Unigene cluster for FAM122A Gene:

Hs.655572
genes like me logo Genes that share expression patterns with FAM122A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM122A Gene

Orthologs for FAM122A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM122A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM122A 30
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia FAM122A 31 30
  • 94.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM122A 31 30
  • 94.08 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam122a 30
  • 92.66 (n)
mouse
(Mus musculus)
Mammalia Fam122a 17 31 30
  • 91.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 83 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM122A 31 30
  • 74.03 (n)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam122a 30
  • 69.63 (n)
zebrafish
(Danio rerio)
Actinopterygii fam122b 31 30
  • 66.29 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4497 31
  • 16 (a)
OneToMany
Species where no ortholog for FAM122A 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 FAM122A Gene

ENSEMBL:
Gene Tree for FAM122A (if available)
TreeFam:
Gene Tree for FAM122A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM122A: view image

Paralogs for FAM122A Gene

Paralogs for FAM122A Gene

(4) SIMAP similar genes for FAM122A Gene using alignment to 1 proteins:

  • F122A_HUMAN
genes like me logo Genes that share paralogs with FAM122A: view

Variants for FAM122A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM122A Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
770386 Benign: not provided 68,780,097(+) C/G FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FAM122A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM122A Gene

Variant ID Type Subtype PubMed ID
esv2422258 CNV duplication 17116639

Variation tolerance for FAM122A Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM122A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM122A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM122A Gene

Disorders for FAM122A Gene

Additional Disease Information for FAM122A

No disorders were found for FAM122A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM122A Gene

Publications for FAM122A Gene

  1. FAM122A, a new endogenous inhibitor of protein phosphatase 2A. (PMID: 27588481) Fan L … Huang Y (Oncotarget 2016) 2 3 4 54
  2. 14-3-3-Pred: improved methods to predict 14-3-3-binding phosphopeptides. (PMID: 25735772) Madeira F … Barton GJ (Bioinformatics (Oxford, England) 2015) 2 3 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  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 54
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54

Products for FAM122A Gene

Sources for FAM122A Gene