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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAM122A Gene

protein-coding   GIFtS: 42
GCID: GC09P071394

Family With Sequence Similarity 122A

(Previous name: chromosome 9 open reading frame 42)
(Previous symbol: C9orf42)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FAM122A Gene: 
FAM122A (family with sequence similarity 122A) is a protein-coding gene. Diseases associated with FAM122A include choroiditis, and kidney disease. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FAM122A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96E09

  • FAM122A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM122A Protein Expression
    REFSEQ proteins: NP_612206.3  
    ENSEMBL proteins: 
     ENSP00000377807  

    Human Recombinant Protein Products for FAM122A: 
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    Cloud-Clone Corp. ELISAs for FAM122A 
    Cloud-Clone Corp. CLIAs for FAM122A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    FAM122A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for FAM122A:
     Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM122A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FAM122A

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    SwitchGear 3'UTR luciferase reporter plasmidFAM122A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM122A


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FAM122A (F122A)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/48 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FAM122A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM122A
    Clone
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    OriGene clones in human, mouse for FAM122A (see all 8)
    OriGene ORF clones in mouse, rat for FAM122A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FAM122A (NM_138333)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM122A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM122A
    Sirion Biotech Customized lentivirus for stable overexpression of FAM122A 
                         Customized lentivirus expression plasmids for stable overexpression of FAM122A 
    Primer
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    OriGene qPCR primer pairs and template standards for FAM122A
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM122A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM122A

    Additional mRNA sequence: 

    AK126379.1 AK304099.1 BC013062.1 

    1 DOTS entry:

    DT.451625 

    24/130 AceView cDNA sequences (see all 130):

    BF439857 CR612982 NM_138333 BC013062 AA725067 AA621802 BQ934863 Z40664 
    AW675180 H54310 BM720476 AA884091 AI697413 AW798921 BF593656 BE349155 
    BF109044 BQ215298 CR597654 F03267 AA812460 AA757388 AI039202 AW673011 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See FAM122A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM122A

    SOURCE GeneReport for Unigene cluster: Hs.655572
        SABiosciences Custom PCR Arrays for FAM122A
    Primer
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    OriGene qPCR primer pairs and template standards for FAM122A
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM122A
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FAM122A gene from 3/9 species (see all 9)    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 92.37(n)1
    97.89(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 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG44976
    --
    15(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)
    About This Section
    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

    FAM122A for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/128 SNPs in FAM122A are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for FAM122A:    About MalaCards
    choroiditis    kidney disease


    FAM122A for disorders           About GeneDecksing


    Export disorders for FAM122A gene to outside databases

    (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)
    About This Section

    PubMed articles for FAM122A gene, integrated from 9 sources (see all 18):
    (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. (2006)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (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. (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. (2002)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1 KAPttgen A....Fox C.S. (2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 116224 HGNC: 23490 AceView: C9orf42 Ensembl:ENSG00000187866 euGenes: HUgn116224
    ECgene: FAM122A H-InvDB: FAM122A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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