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FAM84A Gene

protein-coding   GIFtS: 42
GCID: GC02P014773

Family With Sequence Similarity 84, Member A

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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 84, Member A1 2
Neurological/Sensory 11 2
Neurologic Sensory Protein 12 3
NSE12 3
PP115172
Protein FAM84A2

External Ids:    HGNC: 207431   Entrez Gene: 1513542   Ensembl: ENSG000001629817   OMIM: 6112345   UniProtKB: Q96KN43   

Export aliases for FAM84A gene to outside databases

Previous GC identifers: GC02P014724 GC02P014623


(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 FAM84A Gene:
FAM84A (family with sequence similarity 84, member A) is a protein-coding gene. An important paralog of this gene is FAM84B.


(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_000002.11  NT_005334.17  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM84A gene promoter:
         Max1   NF-1   AP-1   GCNF   CUTL1   MEF-2A   GCNF-1   aMEF-2   GCNF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM84A promoter sequence
   Search Chromatin IP Primers for FAM84A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM84A


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

Entrez Gene cytogenetic band: 2p24.3   Ensembl cytogenetic band:  2p24.3   HGNC cytogenetic band: 2p24.3

FAM84A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM84A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P014773:  view genomic region     (about GC identifiers)

Start:
14,772,810 bp from pter      End:
14,790,933 bp from pter
Size:
18,124 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: FA84A_HUMAN, Q96KN4 (See protein sequence)
Recommended Name: Protein FAM84A  
Size: 292 amino acids; 32491 Da
Secondary accessions: A6NP76 Q86UZ2 Q8NAH7 Q8TAM5
Alternative splicing: 2 isoforms:  Q96KN4-1   Q96KN4-2   

Explore the universe of human proteins at neXtProt for FAM84A: NX_Q96KN4

Explore proteomics data for FAM84A at MOPED

Post-translational modifications: 

  • Isoform 2 is phosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM84A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_660158.2  
    ENSEMBL proteins: 
     ENSP00000295092   ENSP00000330681  

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    antibodies-online proteins for FAM84A (5 products) 

     
    antibodies-online peptides for FAM84A

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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:
     IPR007053 LRAT-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96KN4

    ProtoNet protein and cluster: Q96KN4

    UniProtKB/Swiss-Prot: FA84A_HUMAN, Q96KN4
    Similarity: Belongs to the FAM84 family


    Find genes that share domains with FAM84A           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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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAM84A

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    Selected qRT-PCR Assays for microRNAs that regulate FAM84A (see all 99):
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    SwitchGear 3'UTR luciferase reporter plasmidFAM84A 3' UTR sequence
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    (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
    peroxisome2
    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 FAM84A
    Interactions:

        Search GeneGlobe Interaction Network for FAM84A

    (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 FAM84A (FA84A)



    (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 FAM84A gene: 
    NM_145175.2  

    Unigene Cluster for FAM84A:

    Family with sequence similarity 84, member A
    Hs.260855  [show with all ESTs]
    Unigene Representative Sequence: NM_145175
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295092(uc002rbz.2) ENST00000331243 ENST00000497769 ENST00000464947

    miRNA
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    hsa-miR-579 hsa-miR-520f hsa-miR-193a-3p hsa-miR-642a hsa-miR-1258 hsa-miR-3653 hsa-miR-489 hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidFAM84A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM84A
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM84A
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      QuantiFast Probe-based Assays in human, mouse, rat FAM84A

    Additional mRNA sequence: 

    AF086407.1 AF370404.1 AJ417080.1 AK025063.1 AK092654.1 AK314463.1 AL137343.1 BC029933.1 
    BC052284.1 

    8 DOTS entries:

    DT.445353  DT.414984  DT.100019262  DT.408926  DT.97836090  DT.100763934  DT.95375329  DT.100783621 

    Selected AceView cDNA sequences (see all 178):

    AW954643 F06514 AA612573 F02788 AI695172 R17652 CD671628 F11803 
    AA513346 AX747656 BF064042 Z39461 AI435604 F09452 AJ417080 CB159439 
    BI752070 NM_145175 AK092654 BC029933 AA327631 AA933622 BF063776 AA580399 

    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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    FAM84A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACCATTCC
    FAM84A Expression
    About this image


    FAM84A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
     
     Adipose (Muscoskeletal System)
             Visceral White Adipocytes Visceral White Adipose
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    FAM84A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM84A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.260855
        Custom PCR Arrays for FAM84A
    Primer
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    OriGene qPCR primer pairs and template standards for FAM84A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM84A

    (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 chordates.

    Orthologs for FAM84A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam84a1 , 5 family with sequence similarity 84, member A1, 5 91.67(n)1
    96.23(a)1
      12 (6.93 cM)5
    1050051  NM_029007.21  NP_083283.21 
     141475995 
    chicken
    (Gallus gallus)
    Aves FAM84A1 family with sequence similarity 84, member A 80.26(n)
    82.27(a)
      421946  XM_004935775.1  XP_004935832.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM84A6
    family with sequence similarity 84, member A
    60(a)
    1 ↔ 1
    1(145258003-145263945)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG552019.12   -- 73.12(n)    BG552019.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc637242 hypothetical protein MGC63724 79.57(n)   393590  BC056807.1 


    ENSEMBL Gene Tree for FAM84A (if available)
    TreeFam Gene Tree for FAM84A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM84A gene
    FAM84B2  
    1 SIMAP similar gene for FAM84A using alignment to 1 protein entry:     FA84A_HUMAN:
    FAM84B

    Find genes that share paralogs with FAM84A           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 FAM84A (see all 137)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1887667711,2
    --14770813(+) TCAAAC/TGCTGA 1 -- us2k10--------
    rs1469321291,2
    --14770892(+) CTGAAA/GTCCAG 1 -- us2k10--------
    rs1380661821,2
    --14771080(+) AATAGC/TCAAAT 1 -- us2k10--------
    rs1927734401,2
    --14771095(+) AAAAAC/GATTTA 1 -- us2k10--------
    rs739147641,2
    C,F--14771122(+) ACCGAT/CGGTCA 1 -- us2k14Minor allele frequency- C:0.30WA CSA 124
    rs621316701,2
    C--14771124(+) CGATGG/ATCATT 1 -- us2k13Minor allele frequency- A:0.03NA WA 240
    rs25716121,2
    C,F,O,H--14771144(-) TGCTGG/AAAAAA 1 -- us2k115Minor allele frequency- A:0.10NS EA NA WA 1630
    rs1844059851,2
    --14771145(+) TTTTCC/TAGCAA 1 -- us2k10--------
    rs1143311701,2
    F--14771317(+) TGTAAC/TCTTGA 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1893394891,2
    --14771545(+) TTTACC/TCTTAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM84A (14772810 - 14790933 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FAM84A: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM84A
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM84A

    (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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    OMIM gene information: 611234    OMIM disorders: --


    Find genes that share disorders with FAM84A           About GenesLikeMe

    Genetic Association Database (GAD): FAM84A

    Export disorders for FAM84A 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 FAM84A gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with FAM84A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    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. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
    6. Nse1 RING-like domain supports functions of the Smc5-Smc6 holocomplex in genome stability. (PubMed id 18667531)1 Pebernard S....Boddy M.N. (Mol. Biol. Cell 2008)
    7. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    8. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)4 Seshadri S....Wolf P.A. (BMC Med. Genet. 2007)
    9. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    10. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)

    (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: 151354 HGNC: 20743 AceView: NSE1.1 Ensembl:ENSG00000162981 euGenes: HUgn151354
    ECgene: FAM84A H-InvDB: FAM84A

    (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 FAM84A 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 FAM84A gene:
    Search GeneIP for patents involving FAM84A

    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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     Custom PCR Arrays for FAM84A Search Chromatin IP Primers for FAM84A
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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     Browse ESI BIO Cell Lines and PureStem Progenitors for FAM84A
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     Search Addgene for plasmids for FAM84A
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     genOway: Develop your customized and physiologically relevant rodent model for FAM84A
     antibodies-online antibodies for FAM84A (25 products)
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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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