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FAM76A Gene

protein-coding   GIFtS: 45
GCID: GC01P028052

Family With Sequence Similarity 76, Member A

  See related disease
at  

(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 76, Member A1 2
Protein FAM76A2

External Ids:    HGNC: 285301   Entrez Gene: 1998702   Ensembl: ENSG000000097807   UniProtKB: Q8TAV03   

Export aliases for FAM76A gene to outside databases

Previous GC identifers: GC01P027737 GC01P027925 GC01P026308


(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 FAM76A Gene:
FAM76A (family with sequence similarity 76, member A) is a protein-coding gene. Diseases associated with FAM76A include endotheliitis. An important paralog of this gene is FAM76B.


(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:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM76A gene promoter:
         N-Myc   CREB   USF1   USF-1   deltaCREB   p300   Egr-1   USF2   USF-1:USF-2   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM76A promoter sequence
   Search Chromatin IP Primers for FAM76A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM76A


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

Entrez Gene cytogenetic band: 1p35.3   Ensembl cytogenetic band:  1p35.3   HGNC cytogenetic band: 1p35.3

FAM76A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM76A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P028052:  view genomic region     (about GC identifiers)

Start:
28,052,490 bp from pter      End:
28,089,633 bp from pter
Size:
37,144 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FA76A_HUMAN, Q8TAV0 (See protein sequence)
Recommended Name: Protein FAM76A  
Size: 307 amino acids; 35049 Da
Secondary accessions: B4DWT3 O95565 O95566 Q8N7J5
Alternative splicing: 5 isoforms:  Q8TAV0-1   Q8TAV0-2   Q8TAV0-3   Q8TAV0-4   Q8TAV0-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM76A: NX_Q8TAV0

Explore proteomics data for FAM76A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM76A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001137384.1  NP_001137385.1  NP_001137386.1  NP_001137387.1  NP_689873.1  

    ENSEMBL proteins: 
     ENSP00000363065   ENSP00000395150   ENSP00000436176   ENSP00000234549   ENSP00000363060  
     ENSP00000010299   ENSP00000393171  

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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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    ProtoNet protein and cluster: Q8TAV0

    UniProtKB/Swiss-Prot: FA76A_HUMAN, Q8TAV0
    Similarity: Belongs to the FAM76 family


    (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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for FAM76A:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM76A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAM76A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM76A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAM76A

    miRNA
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    miRTarBase miRNAs that target FAM76A:
    hsa-mir-374b-5p (MIRT016051), hsa-mir-124-3p (MIRT022497)

    Block miRNA regulation of human, mouse, rat FAM76A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM76A (see all 54):
    hsa-miR-549 hsa-miR-607 hsa-miR-4328 hsa-miR-938 hsa-miR-485-3p hsa-miR-449a hsa-miR-374a* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidFAM76A 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM76A

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    GenScript: all cDNA clones in your preferred vector (see all 5): FAM76A (NM_001143915)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM76A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM76A

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM76A


    (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
    cytosol2
    nucleus2
    extracellular1

    (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 FAM76A
    Interactions:

        Search GeneGlobe Interaction Network for FAM76A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FAM76A (ENSP000000102994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    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 FAM76A (FA76A)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM76A gene (5 alternative transcripts): 
    NM_001143912.1  NM_001143913.1  NM_001143914.1  NM_001143915.1  NM_152660.2  

    Unigene Cluster for FAM76A:

    Family with sequence similarity 76, member A
    Hs.469359  [show with all ESTs]
    Unigene Representative Sequence: NM_001143912
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373954 ENST00000419687 ENST00000530324(uc009vtb.3) ENST00000234549
    ENST00000373949(uc001bor.3 uc001boq.3 uc001bos.3 uc001bot.3 uc010ofm.2)
    ENST00000010299 ENST00000446647
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FAM76A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM76A (see all 54):
    hsa-miR-549 hsa-miR-607 hsa-miR-4328 hsa-miR-938 hsa-miR-485-3p hsa-miR-449a hsa-miR-374a* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidFAM76A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FAM76A
    Predesigned siRNA for gene silencing in human, mouse, rat FAM76A
    Clone
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    OriGene clones in human, mouse for FAM76A (see all 26)
    OriGene ORF clones in mouse, rat for FAM76A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): FAM76A (NM_001143915)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM76A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM76A
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FAM76A
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM76A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM76A
      QuantiTect SYBR Green Assays in human, mouse, rat FAM76A
      QuantiFast Probe-based Assays in human, mouse, rat FAM76A

    Additional mRNA sequence: 

    AK098318.1 AK123940.1 AK290120.1 AK301672.1 AK310165.1 AL035307.1 AL035309.1 BC025768.1 

    5 DOTS entries:

    DT.97766911  DT.100683411  DT.91954508  DT.100009669  DT.121417312 

    Selected AceView cDNA sequences (see all 70):

    AA405008 AA676651 AL035309 AA284410 AI935980 AL035307 AA770394 AI791889 
    AA972353 AI821696 BC025768 AA826504 AA292538 AA631135 NM_152660 AI340089 
    CK570341 CA419465 BI518602 BQ429633 AI631053 AL079542 AK123940 BU155520 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FAM76A    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                            
    SP2:                                      -                     


    ECgene alternative splicing isoforms for FAM76A

    (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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    FAM76A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTGAGTA
    FAM76A Expression
    About this image

    FAM76A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM76A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469359
        Custom PCR Arrays for FAM76A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FAM76A
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM76A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM76A
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    QuantiFast Probe-based Assays in human, mouse, rat FAM76A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM76A

    (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 FAM76A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam76a1 , 5 family with sequence similarity 76, member A1, 5 91.53(n)1
    98.05(a)1
      4 (66.01 cM)5
    2307891  NM_145553.21  NP_663528.11 
     1328992135 
    chicken
    (Gallus gallus)
    Aves FAM76A1 family with sequence similarity 76, member A 82.63(n)
    93.81(a)
      426384  NM_001031377.1  NP_001026548.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG44521 CG4452 52.45(n)
    44.41(a)
      39069  NM_140046.4  NP_648303.1 
    worm
    (Caenorhabditis elegans)
    Secernentea K04F10.71 K04F10.7 48.65(n)
    34.04(a)
      172335  NM_059437.6  NP_491838.1 


    ENSEMBL Gene Tree for FAM76A (if available)
    TreeFam Gene Tree for FAM76A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM76A gene
    FAM76B2  
    1 SIMAP similar gene for FAM76A using alignment to 3 protein entries:     FA76A_HUMAN (see all proteins):
    FAM76B

    FAM76A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FAM76A
    PGOHUM00000258050 PGOHUM00000237778


    (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 FAM76A (see all 722)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs728728041,2
    C,F--28050597(+) CTCAGG/AGCAGC 5 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1409659021,2
    C--28050900(+) ACCACA/GCCCGG 5 -- us2k10--------
    rs1874335881,2
    --28050938(+) GGTTTA/GACCTT 5 -- us2k10--------
    rs1930028511,2
    --28050944(+) ACCTTG/TTTGGT 5 -- us2k10--------
    rs745450411,2
    C,F--28051052(+) CCGGCC/TGACCC 5 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1388879751,2
    C--28051087(+) CAAGTG/TATCCT 5 -- us2k10--------
    rs790343111,2
    F--28051145(+) CGCCCC/GGACTC 5 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1829531531,2
    --28051236(+) AAGGTC/TATGTA 5 -- us2k10--------
    rs1887934231,2
    --28051241(+) CATGTA/CGTTAG 5 -- us2k10--------
    rs1126592001,2
    C--28051354(+) GTAAAT/-TTTTT 5 -- us2k11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for FAM76A (28052490 - 28089633 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FAM76A: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM76A
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM76A

    (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.)
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    1 disease for FAM76A:    About MalaCards
    endotheliitis


    FAM76A for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM76A

    Export disorders for FAM76A 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)
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    PubMed articles for FAM76A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM76A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    6. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. (PubMed id )2 

    (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: 199870 HGNC: 28530 AceView: MGC34648 Ensembl:ENSG00000009780 euGenes: HUgn199870
    ECgene: FAM76A H-InvDB: FAM76A

    (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 FAM76A 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 FAM76A gene:
    Search GeneIP for patents involving FAM76A

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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