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

FAM129A Gene

protein-coding   GIFtS: 49
GCID: GC01M184759

family with sequence similarity 129, member A

(Previous name: chromosome 1 open reading frame 24 )
(Previous symbol: C1orf24)
 Explore 13 diseases affiliated with
FAM129A via our new
 Human Malady Compendium 
Biological research products
for FAM129A
    

(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 129, Member A1 2     Chromosome 1 Open Reading Frame 241
C1orf241 2 3     Cell Growth Inhibiting Protein 392
NIBAN1 2 3     Protein Niban2
Cell Growth-Inhibiting Gene 39 Protein2 3     Protein FAM129A3
GIG391     

External Ids:    HGNC: 167841   Entrez Gene: 1164962   Ensembl: ENSG000001358427   UniProtKB: Q9BZQ83   

Export aliases for FAM129A gene to outside databases

Previous GC identifers: GC01M183027 GC01M155995


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

UniProtKB/Swiss-Prot: NIBAN_HUMAN, Q9BZQ8
Function: Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A,
EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity)

Gene Wiki entry for FAM129A


(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM129A gene promoter:
         TBP   Pax-5   POU6F1 (c2)   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Nkx2-5   POU3F2   Evi-1   Egr-2   Ik-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM129A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM129A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM129A


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

Entrez Gene cytogenetic band: 1q25   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25

FAM129A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM129A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M184759:  view genomic region     (about GC identifiers)

Start:
184,759,858 bp from pter      End:
184,943,682 bp from pter
Size:
183,825 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: NIBAN_HUMAN, Q9BZQ8 (See protein sequence)
Recommended Name: Protein Niban  
Size: 928 amino acids; 103135 Da
Subcellular location: Cytoplasm
Miscellaneous: 'Niban' means 'second' in Japanese
Sequence caution: Sequence=BAB17230.1; Type=Erroneous initiation;
Secondary accessions: Q2TTR2 Q5TEM8 Q8TEI5 Q9H593 Q9H9Y8 Q9HCB9

Explore the universe of human proteins at neXtProt for FAM129A: NX_Q9BZQ8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BZQ8

  • FAM129A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_443198.1  
    ENSEMBL proteins: 
     ENSP00000414039   ENSP00000356481  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FAM129A

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--


    FAM129A for ontologies           About GeneDecksing



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

    FAM129A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026088 Niban_like

    Graphical View of Domain Structure for InterPro Entry Q9BZQ8

    ProtoNet protein and cluster: Q9BZQ8

    UniProtKB/Swiss-Prot: NIBAN_HUMAN, Q9BZQ8
    Similarity: Belongs to the Niban 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: NIBAN_HUMAN, Q9BZQ8
    Function: Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A,
    EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity)

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    hsa-miR-3678-3p hsa-miR-607 hsa-miR-3651 hsa-miR-106a hsa-miR-128 hsa-miR-578 hsa-miR-519a hsa-miR-4314
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    FAM129A for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Fam129atm1Hin for FAM129A
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Fam129a):
     normal 

    FAM129A 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 FAM129A

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

    4 Interacting proteins for FAM129A (Q9BZQ82, 3 ENSP000003564814) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPM1P067482MINT-8391952 MINT-8391929 MINT-8391939 MINT-8391874 MINT-8391889 MINT-8391907 MINT-8391968
    AKT1P317492MINT-8391839 MINT-8391854
    AICDAQ9GZX73I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001933negative regulation of protein phosphorylation ISS--
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0034976response to endoplasmic reticulum stress ISS--
    GO:0045727positive regulation of translation ISS--


    FAM129A for ontologies           About GeneDecksing



    (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 FAM129A
    Search CenterWatch for drugs/clinical trials and news about FAM129A / NIBAN 

    (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 FAM129A gene: 
    NM_052966.2  

    Unigene Cluster for FAM129A:

    Family with sequence similarity 129, member A
    Hs.518662  [show with all ESTs]
    Unigene Representative Sequence: NM_052966
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417056 ENST00000367511(uc001gra.3 uc009wyh.1 uc009wyi.1)
    ENST00000487074(uc001grb.1) ENST00000461167 ENST00000496299

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    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM129A (see all 43):
    hsa-miR-3678-3p hsa-miR-607 hsa-miR-3651 hsa-miR-106a hsa-miR-128 hsa-miR-578 hsa-miR-519a hsa-miR-4314
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    Additional cDNA sequence: 

    AB050477.1 AB586695.1 AF288391.1 AK022527.1 AK074139.1 AK095547.1 AK127373.1 AK310557.1 
    AK311019.1 AL137572.1 AY550972.1 BC018532.1 BC030531.1 

    10 DOTS entries:

    DT.91735241  DT.87016690  DT.101961979  DT.100031674  DT.91707136  DT.426950  DT.91707167  DT.101966647 
    DT.101958222  DT.121464649 

    24/256 AceView cDNA sequences (see all 256):

    BM694836 AK127373 BC030531 AL599918 AI685862 BF445118 BE645822 BX509017 
    BM457805 AI142498 BE217945 AA652327 BX282311 AI401431 AA426369 AI221481 
    Z38355 BM023081 AB050477 AI334630 AA811832 BQ877180 BF939177 BF589585 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FAM129A    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
    SP1:              -                             -                                                               
    SP2:                                                        -                                                   
    SP3:                                                                                                            


    ECgene alternative splicing isoforms for FAM129A

    (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

    FAM129A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATTTACTCT

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

    About this image

    FAM129A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    KidneyMetanephrosKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Posterior foregut-like cells (A scalable, suspensi...)

    See FAM129A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM129A

    SOURCE GeneReport for Unigene cluster: Hs.518662

    UniProtKB/Swiss-Prot: NIBAN_HUMAN, Q9BZQ8
    Tissue specificity: Expressed in various types of thyroid tumor such as papillary thyroid carcinomas and oxyphilic
    thyroid tumors but not in normal thyroid tissue (at protein level). Strongly expressed in heart, skeletal muscle,
    pancreas, white blood cells and prostate with moderate expression in colon and spleen. Expressed in renal carcinoma
    cells but not in normal kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM129A

    (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 FAM129A gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM129A1 family with sequence similarity 129, member A 67.2(n)
    62.43(a)
      424451  NM_001012596.1  NP_001012614.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM129A6
    --
    58(a)
    1 ↔ 1
    GL343203.1(3319634-3363377)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5614141 protein Niban-like 55.36(n)
    47.45(a)
      561414  XM_684820.3  XP_689912.3 


    ENSEMBL Gene Tree for FAM129A (if available)
    TreeFam Gene Tree for FAM129A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM129A gene
    FAM129B2  FAM129C2  
    1 SIMAP similar gene for FAM129A using alignment to 2 protein entries:     NIBAN_HUMAN (see all proteins):
    FAM129B

    FAM129A 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

    10/3060 NCBI SNPs in FAM129A are shown (see all 3060    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1116448671,2
    C,--184759762(+) TTGATG/AAATGA 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1919986311,2
    --184759774(+) TCCACA/GGATAA 1 -- ds50010--------
    rs1421962311,2
    --184759848(+) TTTTGC/TTCAAT 1 -- ds50010--------
    rs5704411,2
    C,F,O,A,H,--184760001(+) AGTGGC/TTTCCC 1 -- ds500129Minor allele frequency- T:0.40NA NS EA WA CSA 2499
    rs745612701,2
    --184760040(+) TAAAAG/AGTCCA 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1507725061,2
    --184760049(+) CATGAC/TACAGC 1 -- ds50010--------
    rs1844553361,2
    --184760065(+) TGACTC/TGCCTT 1 -- ds50010--------
    rs1889945581,2
    --184760066(+) GACTCA/GCCTTT 1 -- ds50010--------
    rs1392752741,2
    --184760226(+) TACAAA/GGTGTT 1 -- ut310--------
    rs741320371,2
    C,F,--184760331(+) AACCCG/ATCTCT 1 -- ut313Minor allele frequency- A:0.34WA CSA 122

    HapMap Linkage Disequilibrium report for FAM129A (184759858 - 184943682 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for FAM129A
         8 CNVs: 34742 97581 5539 43747 97580 5538 39022 22647
         5 Indels: 39672 39671 44476 24014 42580

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FAM129A

    (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

    FAM129A for disorders           About GeneDecksing

    13 diseases for FAM129A:    About MalaCards
    childhood medulloblastoma    pineoblastoma    papillary thyroid carcinoma    thyroid carcinoma
    thyroiditis    thyroid adenoma    renal carcinoma    medulloblastoma
    thyroid cancer    carcinoma    prostate cancer    adenoma
    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for FAM129A:
    Pineoblastoma     Childhood medulloblastoma     Thyroid adenoma
    Human Genome Epidemiology (HuGE) Navigator: FAM129A (1 document)

    Export disorders for FAM129A 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 FAM129A gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with FAM129A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel tumor marker, Niban, is expressed in subsets of thyroid tumors and Hashimoto's thyroiditis. (PubMed id 16949643)1, 2 Matsumoto F.... Hino O. (2006)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. [Pathogenesis of differentiated thyroid cancer (papillary and follicular)] (PubMed id 16444351)1, 3 Maciel R.M....Cerutti J.M. (2005)
    4. A preoperative diagnostic test that distinguishes benign from malignant thyroid carcinoma based on gene expression. (PubMed id 15085203)1, 3 Cerutti J.M....Riggins G.J. (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. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PubMed id 11318611)1, 2 Sood R....Carpten J.D. (2001)
    8. A novel gene 'Niban' upregulated in renal carcinogenesis: cloning by the cDNA-amplified fragment length polymorphism approach. (PubMed id 11011112)1, 2 Majima S.... Hino O. (2000)
    9. The new molecular markers DDIT3, STT3A, ARG2 and FAM12 9A are not useful in diagnosing thyroid follicular tumors. (PubMed id 22157935)1 Sigstad E....Warren D.J. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 116496 HGNC: 16784 AceView: C1orf24 Ensembl:ENSG00000135842 euGenes: HUgn116496
    ECgene: FAM129A H-InvDB: FAM129A

    (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 FAM129A 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 FAM129A gene:
    Search GeneIP for patents involving FAM129A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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