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

FAM102A Gene

protein-coding   GIFtS: 47
GCID: GC09M130702

family with sequence similarity 102, member A

(Previous name: chromosome 9 open reading frame 132 )
(Previous symbol: C9orf132)
 Explore 2 diseases affiliated with
FAM102A via our new
 Human Malady Compendium 
Biological research products
for FAM102A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Family With Sequence Similarity 102, Member A1 2     Eeig11
C9orf1321 2 3     Chromosome 9 Open Reading Frame 1321
EEIG12 3 5     C230093N12Rik2
SYM-3A1 2     Protein FAM102A2
BA203J24.71     Sym-3 Homolog A2
Early Estrogen-Induced Gene 1 Protein2 3     

External Ids:    HGNC: 314191   Entrez Gene: 3996652   Ensembl: ENSG000001671067   OMIM: 6108915   UniProtKB: Q5T9C23   

Export aliases for FAM102A gene to outside databases

Previous GC identifers: GC09M127786 GC09M129742 GC09M100319


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

UniProtKB/Swiss-Prot: F102A_HUMAN, Q5T9C2
Function: May play a role in estrogen action




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM102A gene promoter:
         MEF-2A   MEF-2   aMEF-2   Pax-4a   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM102A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM102A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM102A


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.11

FAM102A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM102A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M130702:  view genomic region     (about GC identifiers)

Start:
130,702,858 bp from pter      End:
130,742,812 bp from pter
Size:
39,955 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: F102A_HUMAN, Q5T9C2 (See protein sequence)
Recommended Name: Protein FAM102A  
Size: 384 amino acids; 41785 Da
Sequence caution: Sequence=CAI12618.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A2A329 Q8TEL4
Alternative splicing: 3 isoforms:  Q5T9C2-1   Q5T9C2-2   Q5T9C2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM102A: NX_Q5T9C2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T9C2

  • FAM102A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001030331.1  NP_976050.1  

    ENSEMBL proteins: 
     ENSP00000362187   ENSP00000362176  

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    Uscn Proteins for FAM102A


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

    FAM102A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019448 NT-C2

    Graphical View of Domain Structure for InterPro Entry Q5T9C2

    ProtoNet protein and cluster: Q5T9C2

    UniProtKB/Swiss-Prot: F102A_HUMAN, Q5T9C2
    Similarity: Belongs to the FAM102 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: F102A_HUMAN, Q5T9C2
    Function: May play a role in estrogen action
    Induction: By 17-beta-estradiol but also by a group of natural and synthetic estrogens as well as by estrogenic
    environmental compounds. Repressed by the antiestrogen 4-hydroxy-tamoxifen

    miRNA
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    8/81 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM102A (see all 81):
    hsa-miR-579 hsa-miR-140-5p hsa-miR-520e hsa-miR-300 hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidFAM102A 3' UTR sequence
    Inhib. RNA
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    Search LifeMap BioReagents cell lines for FAM102A

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM102A

    1 GenomeRNAi human phenotype for FAM102A:
     Increased circadian period len 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM102A

    1 Interacting protein for FAM102A (Q5T9C23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3GL2Q999623I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 FAM102A
    Search CenterWatch for drugs/clinical trials and news about FAM102A / F102A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM102A gene (2 alternative transcripts): 
    NM_001035254.2  NM_203305.2  

    Unigene Cluster for FAM102A:

    Family with sequence similarity 102, member A
    Hs.535972  [show with all ESTs]
    Unigene Representative Sequence: NM_001035254
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373095(uc004bsw.1 uc004bsx.2) ENST00000465821(uc004bsy.1)
    ENST00000373084 ENST00000464641 ENST00000300434 ENST00000479828 ENST00000493175
    ENST00000494606

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM102A
    8/81 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM102A (see all 81):
    hsa-miR-579 hsa-miR-140-5p hsa-miR-520e hsa-miR-300 hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidFAM102A 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM102A
    OriGene shRNA RFP: FAM102A
    OriGene siRNA: FAM102A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM102A
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM102A (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM102A (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): FAM102A (NM_203305)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM102A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM102A 
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM102A
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM102A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM102A

    Additional cDNA sequence: 

    AK058004.1 AK094350.1 AL049365.1 BC047949.1 BC137087.1 BC137088.1 BC142952.1 

    10 DOTS entries:

    DT.97817759  DT.40292167  DT.100788647  DT.446857  DT.416621  DT.99999239  DT.95306624  DT.121158852 
    DT.86844224  DT.91764612 

    24/276 AceView cDNA sequences (see all 276):

    AI354834 BF062910 AI674737 BF447305 AI223826 AA721310 BQ890377 CD106524 
    Z38780 BM756091 AI633829 T12582 CB990054 AA805418 BF059477 BM458600 
    AA736739 CA425632 AI820042 BF928829 AK058004 AI439620 AA677893 CF541104 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FAM102A    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                      
    SP2:                                                      
    SP3:        -     -     -                                 


    ECgene alternative splicing isoforms for FAM102A

    (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

    FAM102A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGGAGCCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    FAM102A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM102A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM102A

    SOURCE GeneReport for Unigene cluster: Hs.535972
        SABiosciences Custom PCR Arrays for FAM102A
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM102A
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM102A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM102A

    (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 FAM102A gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam102a1 , 5 family with sequence similarity 102, member A1, 5 87.85(n)1
    96.35(a)1
      2 (22.09 cM)5
    989521  NM_153560.41  NP_705788.11 
     325353325 
    chicken
    (Gallus gallus)
    Aves FAM102A1 family with sequence similarity 102, member A 77.4(n)
    87.43(a)
      417228  NM_001199166.1  NP_001186095.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM102A6
    --
    76(a)
    1 ↔ 1
    GL344524.1(14614-22205)
    zebrafish
    (Danio rerio)
    Actinopterygii fam102ab1 family with sequence similarity 102, member Ab 70.92(n)
    76.04(a)
      767674  NM_001076613.1  NP_001070081.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG86716
    --
    16(a)
    1 → many
    2L(21262963-21282514)
    worm
    (Caenorhabditis elegans)
    Secernentea sym-36
    SYnthetic lethal with Mec family member (sym-3)
    29(a)
    1 → many
    X(5776216-5778845)


    ENSEMBL Gene Tree for FAM102A (if available)
    TreeFam Gene Tree for FAM102A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM102A gene
    FAM102B2  
    1 SIMAP similar gene for FAM102A using alignment to 1 protein entry:     F102A_HUMAN:
    FAM102B

    FAM102A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/658 NCBI SNPs in FAM102A are shown (see all 658    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003858401,2
    C--100320097(+) AAAAAA/CCCTAA 1 -- ut310--------
    rs1807732821,2
    --130702917(+) ACTAGC/GCTGAG 2 -- ut310--------
    rs756820101,2
    C,--130702978(+) ACACAG/ACCCAC 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1387907331,2
    --130703116(+) TGCCAC/TGTGGT 2 -- ut310--------
    rs1116864731,2
    C--130703132(+) TGTGCG/AGTAAA 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs107146681,2
    C--130703142(+) ACAGG-/AAAAAA 2 -- ut31 trp31Minor allele frequency- A:0.00NA 2
    rs2005755271,2
    C--130703142(-) TTTTTC/TCCTGT 2 -- ut310--------
    rs1909688801,2
    --130703527(+) TCTGGA/GGGAGT 2 -- ut310--------
    rs1493880631,2
    --130703554(+) AAGCTA/GGCTGT 2 -- ut310--------
    rs78591,2
    C,F,O,A,H,--130703565(-) TTGGGC/TGGAAA 2 -- ut3126Minor allele frequency- T:0.43MN EA NS NA WA CSA 3466

    HapMap Linkage Disequilibrium report for FAM102A (130702858 - 130742812 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM102A
         1 Indel: 41911

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FAM102A for disorders           About GeneDecksing

    OMIM gene information: 610891    OMIM disorders: --

    2 diseases for FAM102A:    About MalaCards
    bronchiolitis    pharyngitis

    1 disease from the University of Copenhagen DISEASES database for FAM102A:
    Bronchiolitis

    Export disorders for FAM102A 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 FAM102A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM102A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of estrogen-responsive genes by complementary deoxyribonucleic acid microarray and characterization of a novel early estrogen-induced gene: EEIG1. (PubMed id 14605097)1, 2, 9 Wang D.Y.... Edwards E.A. (2004)
    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)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 Strausberg R.L....Marra M.A. (2002)
    5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (2000)

    (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: 399665 HGNC: 31419 AceView: MGC50853 Ensembl:ENSG00000167106 euGenes: HUgn399665
    ECgene: FAM102A H-InvDB: FAM102A

    (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 FAM102A 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 FAM102A gene:
    Search GeneIP for patents involving FAM102A

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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    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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