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

FAM104A Gene

protein-coding   GIFtS: 38
GCID: GC17M071203

family with sequence similarity 104, member A

  Search for FAM104A
in our new
 Human Malady Compendium 
Biological research products
for FAM104A
    

(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 104, Member A1 2
FLJ147751
Protein FAM104A2

External Ids:    HGNC: 259181   Entrez Gene: 849232   Ensembl: ENSG000001331937   UniProtKB: Q969W33   

Export aliases for FAM104A gene to outside databases

Previous GC identifers: GC17M068716 GC17M066612


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

  --

(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM104A gene promoter:
         STAT1   AML1a   MEF-2   MyoD   Nkx2-5   STAT1alpha   C/EBPalpha   MEF-2A   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM104A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM104A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM104A


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

FAM104A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM104A gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M071203:  view genomic region     (about GC identifiers)

Start:
71,203,492 bp from pter      End:
71,232,892 bp from pter
Size:
29,401 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: F104A_HUMAN, Q969W3 (See protein sequence)
Recommended Name: Protein FAM104A  
Size: 186 amino acids; 19484 Da
Sequence caution: Sequence=AAH11054.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH25238.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55292.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC11183.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: B4E339
Alternative splicing: 2 isoforms:  Q969W3-1   Q969W3-2   

Explore the universe of human proteins at neXtProt for FAM104A: NX_Q969W3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q969W3

  • FAM104A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001092302.1  NP_116226.2  

    ENSEMBL proteins: 
     ENSP00000384648   ENSP00000384832   ENSP00000462781   ENSP00000462840   ENSP00000462806  
     ENSP00000462507  

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

    ProtoNet protein and cluster: Q969W3

    UniProtKB/Swiss-Prot: F104A_HUMAN, Q969W3
    Similarity: Belongs to the FAM104 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

    miRNA
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    1 GenomeRNAi human phenotype for FAM104A:
     Decreased TP53 protein express 

    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fam104a):
     hematopoietic system  immune system 

    FAM104A for phenotypes           About GeneDecksing


    (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 FAM104A

    (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 FAM104A
    Search CenterWatch for drugs/clinical trials and news about FAM104A / F104A 

    (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,
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    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 FAM104A gene (2 alternative transcripts): 
    NM_001098832.1  NM_032837.2  

    Unigene Cluster for FAM104A:

    Family with sequence similarity 104, member A
    Hs.741276  [show with all ESTs]
    Unigene Representative Sequence: NM_001098832
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403627 ENST00000405159(uc002jjj.4 uc002jji.4) ENST00000583178
    ENST00000580032 ENST00000581110 ENST00000579872 ENST00000583024

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    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM104A (see all 62):
    hsa-miR-607 hsa-let-7d hsa-miR-513a-5p hsa-miR-624 hsa-miR-301a hsa-miR-30d hsa-let-7g hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidFAM104A 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK027681.1 AK074755.1 AK304556.1 BC011054.1 BC025238.1 BX537858.1 BX648968.1 U92989.1 

    20 DOTS entries:

    DT.99989533  DT.100824747  DT.91766570  DT.100824753  DT.120979144  DT.120979154  DT.100029669  DT.99978632 
    DT.120979174  DT.100029671  DT.95156930  DT.97800558  DT.120979072  DT.120979095  DT.120979099  DT.95156949 
    DT.95269183  DT.100655618  DT.86851235  DT.95156940 

    24/232 AceView cDNA sequences (see all 232):

    AI768146 BM930907 CB154919 BM807916 BQ008898 AI910446 R29378 BM976293 
    BC025238 AI147224 BP342451 AA933586 CD364915 BE042985 AK027681 BM980270 
    CA429207 NM_032837 AI634908 AA482533 AA993417 BM423910 AW025742 AI638199 

    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

    FAM104A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACACAGCAC

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

    About this image
    See FAM104A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM104A

    SOURCE GeneReport for Unigene cluster: Hs.741276
        SABiosciences Custom PCR Arrays for FAM104A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM104A

    (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 chordates.

    Orthologs for FAM104A gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM104A1 family with sequence similarity 104, member A 72.22(n)
    70.63(a)
      417450  NM_001030708.1  NP_001025879.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    66(a)
    1 → many
    2(96806177-96812074)


    ENSEMBL Gene Tree for FAM104A (if available)
    TreeFam Gene Tree for FAM104A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM104A gene
    FAM104B2  
    1 SIMAP similar gene for FAM104A using alignment to 5 protein entries:     F104A_HUMAN (see all proteins):
    FAM104B

    FAM104A 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

    10/451 NCBI SNPs in FAM104A are shown (see all 451    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350569221,2
    C--66615662(+) AAAAA-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1818200301,2
    --71205184(+) TGGCAA/GTTAAT 2 -- ut310--------
    rs1863976031,2
    --71205238(+) ACTTAC/TGTTTT 2 -- ut310--------
    rs2014432231,2
    --71205246(+) TTTTT-/CATGGAA 2 -- ut310--------
    rs1509876901,2
    --71205315(+) AAAGGC/TCCTTT 2 -- ut310--------
    rs733569221,2
    C,--71205380(+) ACTATG/CGATTC 2 -- ut311Minor allele frequency- C:0.50WA 2
    rs1880073511,2
    --71205437(+) TGATAA/CCCTCC 2 -- ut310--------
    rs1809439871,2
    --71205492(+) TTGCAA/GTAGTG 2 -- ut310--------
    rs1862959211,2
    --71205613(+) TTGAAA/GTATCA 2 -- ut310--------
    rs2009005601,2
    --71205734(+) TTGATA/GTGGAA 4 H syn10--------

    HapMap Linkage Disequilibrium report for FAM104A (71203492 - 71232892 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FAM104A
         2 CNVs: 43954 102529

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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
      --

    (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 FAM104A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM104A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method. (PubMed id 9417904)1, 2 Reddy P.H....Tagle D.A. (1997)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    6. 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)

    (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: 84923 HGNC: 25918 AceView: FLJ14775 Ensembl:ENSG00000133193 euGenes: HUgn84923
    ECgene: FAM104A H-InvDB: FAM104A

    (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 FAM104A 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 FAM104A gene:
    Search GeneIP for patents involving FAM104A

    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),
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    About This Section

     
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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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    von Willebrand factor
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