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

FAM60A Gene

protein-coding   GIFtS: 49
GCID: GC12M031433

Family With Sequence Similarity 60, Member A

(Previous name: chromosome 12 open reading frame 14)
(Previous symbol: C12orf14)
  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 60, Member A1 2
C12orf141 2 3
Tera Protein Homolog2 3
Chromosome 12 Open Reading Frame 141
TERA2
Protein FAM60A2

External Ids:    HGNC: 307021   Entrez Gene: 585162   Ensembl: ENSG000001391467   OMIM: 6150275   UniProtKB: Q9NP503   

Export aliases for FAM60A gene to outside databases

Previous GC identifers: GC12M031325 GC12M031186


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

GeneCards Summary for FAM60A Gene: 
FAM60A (family with sequence similarity 60, member A) is a protein-coding gene. Diseases associated with FAM60A include photosensitivity disease, and spondylolysis.

UniProtKB/Swiss-Prot: FA60A_HUMAN, Q9NP50
Function: Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of
genes encoding components of the TGF-beta signaling pathway

Gene Wiki entry for FAM60A Gene


(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_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM60A gene promoter:
         Elk-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM60A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM60A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM60A


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

Entrez Gene cytogenetic band: 12p11   Ensembl cytogenetic band:  12p11.21   HGNC cytogenetic band: 12p11.21

FAM60A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM60A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M031433:  view genomic region     (about GC identifiers)

Start:
31,433,518 bp from pter      End:
31,479,992 bp from pter
Size:
46,475 bases      Orientation:
minus 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: FA60A_HUMAN, Q9NP50 (See protein sequence)
Recommended Name: Protein FAM60A  
Size: 221 amino acids; 24852 Da
Subunit: Interacts with the Sin3/HDAC corepressor complex at least composed of BRMS1, BRMS1L, ING2, SAP30, SAP30L
and HDAC1
Subcellular location: Nucleus (Probable)
Secondary accessions: D3DUV8 Q9BSZ8
Alternative splicing: 2 isoforms:  Q9NP50-1   Q9NP50-2   

Explore the universe of human proteins at neXtProt for FAM60A: NX_Q9NP50

Explore proteomics data for FAM60A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NP50

  • FAM60A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM60A Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001129283.1  NP_001129284.1  NP_067061.1  

    ENSEMBL proteins: 
     ENSP00000443697   ENSP00000337477   ENSP00000393279   ENSP00000443087   ENSP00000439952  
     ENSP00000443881   ENSP00000437363   ENSP00000379115  

    Human Recombinant Protein Products for FAM60A: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FAM60A 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016580Sin3 complex IDA--

    FAM60A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026065 FAM60A

    Graphical View of Domain Structure for InterPro Entry Q9NP50

    ProtoNet protein and cluster: Q9NP50

    UniProtKB/Swiss-Prot: FA60A_HUMAN, Q9NP50
    Similarity: Belongs to the FAM60 family


    FAM60A 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA60A_HUMAN, Q9NP50
    Function: Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of
    genes encoding components of the TGF-beta signaling pathway
    Induction: Peaks during G1 and S phases of the cell cycle in U2OS cells. Up-regulated in squamous cell carcinoma
    (SCC), adenocarcinoma (AC), colon, ovary, rectum and stomach tumors

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    FAM60A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FAM60A:
     Decreased viability of wild-ty  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM60A 
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    SwitchGear 3'UTR luciferase reporter plasmidFAM60A 3' UTR sequence
    Inhib. RNA
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    (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 FAM60A

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for FAM60A (Q9NP502, 3 ENSP000003374774) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTPBP3Q969Y23, ENSP000003516444I2D: score=5 STRING: ENSP00000351644
    NMIQ132873I2D: score=1 
    PSMC2ENSP000002926444STRING: ENSP00000292644
    NDRG1ENSP000003199774STRING: ENSP00000319977
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030336negative regulation of cell migration IMP--

    FAM60A for ontologies           About GeneDecksing



    (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 FAM60A (FA60A)

    Search CenterWatch for drugs/clinical trials and news about FAM60A / FA60A

    (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 FAM60A gene (3 alternative transcripts): 
    NM_001135811.1  NM_001135812.1  NM_021238.2  

    Unigene Cluster for FAM60A:

    Family with sequence similarity 60, member A
    Hs.505154  [show with all ESTs]
    Unigene Representative Sequence: NM_001135811
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448582(uc001rkc.3 uc010sjz.2) ENST00000539409 ENST00000337682(uc001rkd.3 uc010ska.2 uc001rke.3 uc010skb.2)
    ENST00000454658 ENST00000544921 ENST00000542983 ENST00000539004 ENST00000543615
    ENST00000536836 ENST00000395766
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM60A
    8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM60A (see all 92):
    hsa-miR-640 hsa-miR-1321 hsa-miR-3194-5p hsa-miR-4272 hsa-miR-106a hsa-miR-199a-3p hsa-miR-15a hsa-miR-485-3p
    SwitchGear 3'UTR luciferase reporter plasmidFAM60A 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM60A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM60A

    Additional mRNA sequence: 

    AF087885.1 AF212220.1 AK026932.1 AK027736.1 AK294457.1 AL157432.1 AY598323.1 BC000024.2 
    BC004462.1 BC071966.1 BX648630.1 

    24/25 DOTS entries (see all 25):

    DT.117854  DT.100794304  DT.100673572  DT.100808260  DT.121126837  DT.100649258  DT.121126873  DT.95250842 
    DT.100794293  DT.121126879  DT.121126852  DT.121126816  DT.121126844  DT.75174382  DT.92448549  DT.100037389 
    DT.102843026  DT.121126853  DT.121077379  DT.121126817  DT.121126827  DT.121126836  DT.121126880  DT.85104497 

    24/431 AceView cDNA sequences (see all 431):

    AW236963 BG257252 BM725339 AI122837 AA262652 AW015100 CB159555 AI601152 
    AA976540 BQ186363 AI963621 BU634454 CA976079 BC000024 BC071966 AW237091 
    AI369761 AL532258 BE673689 AW271688 AA227148 BM479347 AK026932 BQ007605 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for FAM60A (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                                      -                                       
    SP2:                          -     -     -                                       
    SP3:                          -           -                                       
    SP4:                                                                              
    SP5:                                -     -                                       


    ECgene alternative splicing isoforms for FAM60A

    (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

    FAM60A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTTTGTAT
    FAM60A Expression
    About this image


    See FAM60A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM60A

    SOURCE GeneReport for Unigene cluster: Hs.505154
        SABiosciences Custom PCR Arrays for FAM60A
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    In Situ
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    (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 FAM60A gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam60a1 , 5 family with sequence similarity 60, member A1, 5 92.61(n)1
    97.74(a)1
      6 (78.67 cM)5
    563061  NM_019643.31  NP_062617.21 
     1489210355 
    chicken
    (Gallus gallus)
    Aves FAM60A1 family with sequence similarity 60, member A 83.64(n)
    91.82(a)
      418140  NM_001030766.1  NP_001025937.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM60A6
    Uncharacterized protein
    89(a)
    1 ↔ 1
    5(10800643-10816706)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.66972 Xenopus laevis transcribed sequence with weak similarity more 77.84(n)    BU901149.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc664592 zgc66459 76.82(n)   386721  BC055529.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG40681 CG4068 48.33(n)
    46.41(a)
      31424  NM_001103410.1  NP_001096880.1 


    ENSEMBL Gene Tree for FAM60A (if available)
    TreeFam Gene Tree for FAM60A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM60A gene

    FAM60A for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for FAM60A
    PGOHUM00000262878 PGOHUM00000262879 PGOHUM00000234904 PGOHUM00000234941 PGOHUM00000249270


    (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

    10/901 SNPs in FAM60A are shown (see all 901)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1807360871,2
    C--31433039(+) TTTCCC/TAGGTA 3 -- int10--------
    rs1863185591,2
    C--31433042(+) CCCAGA/GTAATA 3 -- int10--------
    rs1435288971,2
    --31433116(+) AAGTAC/GATATT 3 -- int10--------
    rs1466519991,2
    C--31433191(+) CAACCA/CCTGAT 3 -- int10--------
    rs781635881,2
    C,F--31433219(+) TTTTAT/CAGTTT 3 -- int11Minor allele frequency- C:0.05EA 120
    rs1488271751,2
    --31433301(+) GGGAAC/GATTTT 3 -- int10--------
    rs1910223461,2
    --31433417(+) CCTTCA/TTGGCT 3 -- int10--------
    rs1831613781,2
    --31433803(+) AATCAC/TTTCAA 3 -- ut310--------
    rs1142205291,2
    C,F--31433844(+) TTTGTA/GATTCA 3 -- ut311Minor allele frequency- G:0.06WA 118
    rs1860506921,2
    --31434077(+) AAGGCA/TGGCAA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for FAM60A (31433518 - 31479992 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for FAM60A (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422447CNV Duplication17116639
    nsv661CNV Insertion18451855
    nsv832364CNV Loss17160897
    nsv524737CNV Gain19592680
    esv2751043CNV Gain17911159
    nsv428276CNV Gain18775914
    dgv63e55CNV Gain17911159
    esv2751046CNV Gain17911159
    nsv515974CNV Gain+Loss19592680
    dgv490e1CNV Complex17122850

    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
    OMIM gene information: 615027    OMIM disorders: --

    6 diseases for FAM60A:    About MalaCards
    photosensitivity disease    spondylolysis    teratocarcinoma    squamous cell carcinoma
    lung cancer    adenocarcinoma


    FAM60A for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM60A
    Human Genome Epidemiology (HuGE) Navigator: FAM60A (1 document)

    Export disorders for FAM60A 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 FAM60A gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with FAM60A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Family with sequence similarity 60A (FAM60A) protein is a cell cycle- fluctuating regulator of the SIN3-HDAC1 histone deacetylase complex. (PubMed id 22865885)1, 2, 3 Munoz I.M....Rouse J. (2012)
    2. Functional characterization of the human FAM60A protein: a new subunit of the Sin3 deacetylase complex. (PubMed id 22984288)1, 2, 3 Smith K.T.... Workman J.L. (2012)
    3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (2000)
    4. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PubMed id 15334068)1, 2 Petroziello J.... Carter P. (2004)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 58516 HGNC: 30702 AceView: C12orf14 Ensembl:ENSG00000139146 euGenes: HUgn58516
    ECgene: FAM60A H-InvDB: FAM60A

    (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 FAM60A 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 FAM60A gene:
    Search GeneIP for patents involving FAM60A

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