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FAM122A Gene

protein-coding   GIFtS: 43
GCID: GC09P071394

Family With Sequence Similarity 122A

(Previous name: chromosome 9 open reading frame 42)
(Previous symbol: C9orf42)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Family With Sequence Similarity 122A1 2
C9orf421 2 3
Chromosome 9 Open Reading Frame 421
Protein FAM122A2

External Ids:    HGNC: 234901   Entrez Gene: 1162242   Ensembl: ENSG000001878667   UniProtKB: Q96E093   

Export aliases for FAM122A gene to outside databases

Previous GC identifers: GC09P070584 GC09P041240


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM122A Gene:
FAM122A (family with sequence similarity 122A) is a protein-coding gene. An important paralog of this gene is FAM122C.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM122A gene promoter:
         TBP   RFX1   Sox5   MIF-1   Nkx2-5   Ik-3   POU2F1   POU2F1a   TFIID   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM122A promoter sequence
   Search Chromatin IP Primers for FAM122A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM122A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.11   Ensembl cytogenetic band:  9q21.11   HGNC cytogenetic band: 9q21.13

FAM122A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM122A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P071394:  view genomic region     (about GC identifiers)

Start:
71,394,964 bp from pter      End:
71,398,609 bp from pter
Size:
3,646 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: F122A_HUMAN, Q96E09 (See protein sequence)
Recommended Name: Protein FAM122A  
Size: 287 amino acids; 30529 Da

Explore the universe of human proteins at neXtProt for FAM122A: NX_Q96E09

Explore proteomics data for FAM122A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM122A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612206.3  
    ENSEMBL proteins: 
     ENSP00000377807  

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    antibodies-online proteins for FAM122A (6 products) 

     
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    antibodies-online antibodies for FAM122A (9 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026716 FAM122

    Graphical View of Domain Structure for InterPro Entry Q96E09

    ProtoNet protein and cluster: Q96E09

    UniProtKB/Swiss-Prot: F122A_HUMAN, Q96E09
    Similarity: Belongs to the FAM122 family


    Find genes that share domains with FAM122A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for FAM122A:
     Increased S DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAM122A

    miRNA
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    miRTarBase miRNAs that target FAM122A:
    hsa-mir-103a-3p (MIRT027067), hsa-mir-425-5p (MIRT016663), hsa-mir-421 (MIRT016127), hsa-mir-16-5p (MIRT031654)

    Block miRNA regulation of human, mouse, rat FAM122A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM122A (see all 48):
    hsa-miR-219-1-3p hsa-miR-4328 hsa-miR-15a hsa-miR-503 hsa-miR-124 hsa-miR-424 hsa-miR-4325 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidFAM122A 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM122A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FAM122A
    Interactions:

        Search GeneGlobe Interaction Network for FAM122A

    1 Interacting protein for FAM122A (Q96E093) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2R2BQ000053I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAM122A (F122A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FAM122A gene: 
    NM_138333.3  

    Unigene Cluster for FAM122A:

    Family with sequence similarity 122A
    Hs.655572  [show with all ESTs]
    Unigene Representative Sequence: NM_138333
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000394264(uc004agw.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FAM122A (see all 48):
    hsa-miR-219-1-3p hsa-miR-4328 hsa-miR-15a hsa-miR-503 hsa-miR-124 hsa-miR-424 hsa-miR-4325 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidFAM122A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FAM122A
    Predesigned siRNA for gene silencing in human, mouse, rat FAM122A
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM122A
    Primer
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    OriGene qPCR primer pairs and template standards for FAM122A
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM122A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM122A
      QuantiTect SYBR Green Assays in human, mouse, rat FAM122A
      QuantiFast Probe-based Assays in human, mouse, rat FAM122A

    Additional mRNA sequence: 

    AK126379.1 AK304099.1 BC013062.1 

    1 DOTS entry:

    DT.451625 

    Selected AceView cDNA sequences (see all 130):

    Z40664 AA884091 NM_138333 CR597654 H54310 BQ215298 F03267 AI471186 
    AI039202 AA725067 BX118176 AA621802 BE349155 AW798921 AA757388 BQ881049 
    BF593656 AW675180 BM720476 BC013062 BF109044 BQ934863 AW673011 AA812460 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FAM122A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTCTTCTG
    FAM122A Expression
    About this image

    FAM122A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM122A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655572
        Custom PCR Arrays for FAM122A
    Primer
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    OriGene qPCR primer pairs and template standards for FAM122A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM122A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FAM122A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam122a1 , 5 family with sequence similarity 122, member A1, 5 91.08(n)1
    95.42(a)1
      19 (19.53 cM)5
    680341  NM_026520.31  NP_080796.11 
     244765025 
    chicken
    (Gallus gallus)
    Aves FAM122A1 family with sequence similarity 122A 74.03(n)
    71.74(a)
      422237  NM_001031118.1  NP_001026289.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fam122a1 family with sequence similarity 122A 69.63(n)
    72.22(a)
      394909  NM_203960.1  NP_989291.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam122b1 family with sequence similarity 122B 66.29(n)
    67.66(a)
      445072  NM_001003466.1  NP_001003466.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG44976
    --
    16(a)
    1 → many
    2L(7190431-7194588)


    ENSEMBL Gene Tree for FAM122A (if available)
    TreeFam Gene Tree for FAM122A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM122A gene
    FAM122C2  FAM122B2  
    4 SIMAP similar genes for FAM122A using alignment to 1 protein entry:     F122A_HUMAN:
    FAM122C    SPACIA2    RP3-473B4.1    FAM122B

    Find genes that share paralogs with FAM122A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FAM122A (see all 128)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1912619731,2
    --71303405(+) AGCCAC/TCCTTC 1 -- us2k10--------
    rs58980411,2
    C--71303427(+) GAAAT-/TCTCTCT 1 -- us2k1 tfbs3 trp30--------
    rs339231881,2
    C--71303428(+) AAATT-/CT/TC 
            
    CTCTC
    1 -- us2k10--------
    rs558441871,2
    C--71303434(+) TCTCT-/C/CT  
            
    TTAAT
    1 -- us2k10--------
    rs1490901771,2
    C--71303932(+) TCTGTA/GCTGTT 1 -- us2k10--------
    rs744125691,2
    C,F--71304041(+) TATCAG/ATCCCC 1 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1431107811,2
    --71304077(+) CATCAC/TATTCA 1 -- us2k10--------
    rs788453861,2
    C,F--71304380(+) TTTCCC/ACTCAG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1837099831,2
    --71304451(+) TGCTGA/GAAAAA 1 -- us2k10--------
    rs1887036831,2
    --71304789(+) TATGTA/GTTCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM122A (71394964 - 71398609 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FAM122A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422258CNV Duplication17116639

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM122A
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM122A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FAM122A gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with FAM122A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (amp 2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    10. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1 KAPttgen A....Fox C.S. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 116224 HGNC: 23490 AceView: C9orf42 Ensembl:ENSG00000187866 euGenes: HUgn116224
    ECgene: FAM122A H-InvDB: FAM122A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FAM122A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAM122A gene:
    Search GeneIP for patents involving FAM122A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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