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

FAM129C Gene

protein-coding   GIFtS: 44
GCID: GC19P017634

family with sequence similarity 129, member C

 Explore 3 diseases affiliated with
FAM129C via our new
 Human Malady Compendium 
Biological research products
for FAM129C
    

(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 C1 2
BCNP11 2 3 5
B-Cell Novel Protein 12 3
FLJ398021
Niban-Like Protein 22
Protein FAM129C3

External Ids:    HGNC: 241301   Entrez Gene: 1997862   Ensembl: ENSG000001674837   OMIM: 6099675   UniProtKB: Q86XR23   

Export aliases for FAM129C gene to outside databases

Previous GC identifers: GC19P017496 GC19P017202


(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_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM129C gene promoter:
         AML1a   MyoD   Lmo2   RelA   AP-2gamma   E47   Arnt   PPAR-gamma1   PPAR-gamma2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM129C promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM129C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM129C


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

FAM129C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM129C gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P017634:  view genomic region     (about GC identifiers)

Start:
17,634,110 bp from pter      End:
17,664,648 bp from pter
Size:
30,539 bases      Orientation:
plus 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: NIBL2_HUMAN, Q86XR2 (See protein sequence)
Recommended Name: Niban-like protein 2  
Size: 697 amino acids; 77413 Da
Secondary accessions: Q7Z6H6 Q86XR3 Q86XR4 Q8TEQ3
Alternative splicing: 5 isoforms:  Q86XR2-1   Q86XR2-2   Q86XR2-3   Q86XR2-4   Q86XR2-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM129C: NX_Q86XR2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86XR2

  • FAM129C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001091994.1  NP_775815.2  

    ENSEMBL proteins: 
     ENSP00000335040   ENSP00000333447   ENSP00000341067   ENSP00000300971   ENSP00000394929  

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    Uscn Proteins for FAM129C


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

    FAM129C for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR026088 Niban_like

    Graphical View of Domain Structure for InterPro Entry Q86XR2

    ProtoNet protein and cluster: Q86XR2

    1 Blocks protein family: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: NIBL2_HUMAN, Q86XR2
    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

    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM129C

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005543phospholipid binding IEA--


    FAM129C for ontologies           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 FAM129C

    (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 FAM129C
    Search CenterWatch for drugs/clinical trials and news about FAM129C / NIBL2 

    (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 FAM129C gene (2 alternative transcripts): 
    NM_001098524.1  NM_173544.4  

    Unigene Cluster for FAM129C:

    Family with sequence similarity 129, member C
    Hs.434133  [show with all ESTs]
    Unigene Representative Sequence: NM_173544
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335393(uc021uqj.1) ENST00000332386(uc021uqi.1 uc010xpu.2 uc002ngz.4)
    ENST00000352727(uc010eaw.3) ENST00000300971(uc010xps.2 uc010xpt.2 uc002nhb.3)
    ENST00000449408(uc002ngy.4)

    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM129C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM129C

    Additional cDNA sequence: 

    AK097121.1 AK298062.1 AK300046.1 AK301159.1 AY254197.1 AY254198.1 AY254199.1 BC033225.1 
    BC053606.1 

    8 DOTS entries:

    DT.421960  DT.100744788  DT.100017632  DT.95324786  DT.100744787  DT.95357255  DT.99962920  DT.440985 

    24/31 AceView cDNA sequences (see all 31):

    AA731836 AA214525 AA649002 BF941096 AY254197 AI281478 AY254198 AI524105 
    AI436406 AY254199 BC033225 BC053606 BQ707062 AK097121 AK074069 AW732765 
    BG614622 BQ708587 BU152936 BI261711 NM_173544 AI688885 BI262248 W84738 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for FAM129C (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17
    SP1:                                -     -                                         -                                               -               
    SP2:                                -     -                                         -                                               -     -         
    SP3:                                -     -                                         -                                                               
    SP4:                                -     -                                         -                             -                 -               
    SP5:                    -           -                                                                                                               


    ECgene alternative splicing isoforms for FAM129C

    (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

    FAM129C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAACAGGAG

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

    About this image
    See FAM129C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM129C

    SOURCE GeneReport for Unigene cluster: Hs.434133

    UniProtKB/Swiss-Prot: NIBL2_HUMAN, Q86XR2
    Tissue specificity: Specifically expressed in B-lymphocytes

        SABiosciences Custom PCR Arrays for FAM129C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM129C

    (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 human and mouse.

    Orthologs for FAM129C gene from 1/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam129c1 , 5 family with sequence similarity 129, member C1, 5 73.28(n)1
    67.63(a)1
      8 (34.43 cM)5
    1000372781  NM_001166213.11  NP_001159685.11 
     715976485 


    ENSEMBL Gene Tree for FAM129C (if available)
    TreeFam Gene Tree for FAM129C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM129C gene
    FAM129B2  FAM129A2  
    8 SIMAP similar genes for FAM129C using alignment to 8 protein entries:     NIBL2_HUMAN (see all proteins):
    NRAMP1    AURA2    FAM175A    NF2    DNAPTP3    EIF3L
    LINC00596    GLT8D2

    FAM129C 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

    10/654 NCBI SNPs in FAM129C are shown (see all 654    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1852328181,2
    --17632652(+) ACAGCA/GAGACT 2 -- us2k10--------
    rs40141801,2
    C,F,A,H,--17632757(+) GCTTGA/TACCAG 2 -- us2k16Minor allele frequency- T:0.44NA WA CSA 16
    rs1129900111,2
    C,--17632832(+) ACTCGG/ATCTCA 2 -- us2k12Minor allele frequency- A:0.06WA 120
    rs1912219441,2
    --17633021(+) AGCTAC/TTTGGG 2 -- us2k10--------
    rs1459304051,2
    --17633072(+) GTTGCA/CGTGAG 2 -- us2k10--------
    rs1840171251,2
    --17633127(+) ACTCCA/GTCTTA 2 -- us2k10--------
    rs1884163761,2
    --17633211(+) GTGGCA/GGCAGG 2 -- us2k10--------
    rs1917200901,2
    --17633220(+) GGGCTA/GGTTCC 2 -- us2k10--------
    rs1398053961,2
    --17633381(+) GGTCTC/TGCTCT 2 -- us2k10--------
    rs1830673241,2
    --17633498(+) GATATC/GCACCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM129C (17634110 - 17664648 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM129C
         1 CNV: 5338

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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

    FAM129C for disorders           About GeneDecksing

    OMIM gene information: 609967    OMIM disorders: --

    3 diseases for FAM129C:    About MalaCards
    chronic lymphocytic leukemia    lymphocytic leukemia    leukemia


    Export disorders for FAM129C 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 FAM129C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM129C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic analysis of the cell-surface membrane in chronic lymphocytic leukemia: identification of two novel proteins, BCNP1 and MIG2B. (PubMed id 12886250)1, 2, 3 Boyd R.S.... Dyer M.J.S. (2003)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    5. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)2 Jikuya H....Ohara O. (2003)
    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: 199786 HGNC: 24130 AceView: BCNP1 Ensembl:ENSG00000167483 euGenes: HUgn199786
    ECgene: FAM129C H-InvDB: FAM129C

    (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 FAM129C 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 FAM129C gene:
    Search GeneIP for patents involving FAM129C

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    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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    VWF
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    von Willebrand factor
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