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FAM129C Gene

protein-coding   GIFtS: 42
GCID: GC19P017634

Family With Sequence Similarity 129, Member C

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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 129, Member C1 2
BCNP12 3 5
B-Cell Novel Protein 12 3
B Cell Novel Protein 11
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM129C Gene:
FAM129C (family with sequence similarity 129, member C) is a protein-coding gene. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is FAM129B.


(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_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for FAM129C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

Explore proteomics data for FAM129C at MOPED


See FAM129C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000470106   ENSP00000333447   ENSP00000335040   ENSP00000471168   ENSP00000469225  
 ENSP00000394929   ENSP00000468994   ENSP00000471117   ENSP00000470798   ENSP00000341067  
 ENSP00000300971  

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Search eBioscience for Proteins for FAM129C 

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Search eBioscience for ELISAs for FAM129C 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 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 domain: IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: NIBL2_HUMAN, Q86XR2
Similarity: Belongs to the Niban family


Find genes that share domains with FAM129C           About GenesLikeMe


(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, 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:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM129C
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAM129C

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM129C
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAM129C

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GenScript: all cDNA clones in your preferred vector (see all 2): FAM129C (NM_173544)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM129C

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM129C


(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
nucleus2
cytosol1
mitochondrion1
peroxisome1

(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 FAM129C
Interactions:

    Search GeneGlobe Interaction Network for FAM129C

(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 FAM129C (NIBL2)



(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 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
14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000595684 ENST00000332386(uc021uqi.1 uc010xpu.2 uc002ngz.4)
ENST00000335393(uc021uqj.1) ENST00000601861 ENST00000599164 ENST00000597887
ENST00000449408(uc002ngy.4) ENST00000600519 ENST00000600871 ENST00000599124
ENST00000599819 ENST00000595601 ENST00000352727(uc010eaw.3) ENST00000300971(uc010xps.2 uc010xpt.2 uc002nhb.3)

miRNA
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GenScript: all cDNA clones in your preferred vector (see all 2): FAM129C (NM_173544)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM129C
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  QuantiFast Probe-based Assays in human, mouse, rat FAM129C

Additional mRNA 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 

Selected AceView cDNA sequences (see all 31):

AY254198 BF941096 AA731836 AA649002 AI281478 AA214525 AY254197 BI261711 
BC053606 BQ707062 AK097121 AI688885 AI524105 AK074069 AW732765 BU152936 
AI436406 NM_173544 AY254199 BQ708587 BC033225 BG614622 BE646461 AA765210 

GeneLoc Exon Structure

Selected 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™, 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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FAM129C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGAACAGGAG
FAM129C Expression
About this image


FAM129C expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Blood (Hematopoietic System)
         Mature B-Cells Peripheral Blood
 
 Spleen (Hematopoietic System)
FAM129C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM129C Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.434133

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

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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for FAM129C gene from Selected species (see all 7)    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)
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Paralogs for FAM129C gene
FAM129B2  FAM129A2  
Selected SIMAP similar genes for FAM129C using alignment to 8 protein entries:     NIBL2_HUMAN (see all proteins) (see all similar genes):
NRAMP1    UTY    MED15    HECW1    AURA2    LYRM4
NEK4    C4orf21    FAM3A    KLHL2    APOD    FAM175A
SHANK2    TMEM14B    WARS    ZNF20    ZNF564    ZNF212

Find genes that share paralogs with FAM129C           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 FAM129C (see all 811)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1852328181,2
C--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,F--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
     Database of Genomic Variants (DGV) 8 variations for FAM129C:    About this table    
Variant IDTypeSubtypePubMed ID
esv2661765CNV Deletion23128226
esv2674708CNV Deletion23128226
esv2657201CNV Deletion23128226
esv2422429CNV Duplication17116639
nsv911182CNV Loss21882294
dgv3762n71CNV Loss21882294
nsv911205CNV Loss21882294
nsv833768CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FAM129C
DNA2.0 Custom Variant and Variant Library Synthesis for FAM129C

(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: 609967    OMIM disorders: --


Find genes that share disorders with FAM129C           About GenesLikeMe


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)
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PubMed articles for FAM129C gene integrated from 10 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. (Leukemia 2003)
  2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 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. (Genome Res. 2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 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. (DNA Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 199786 HGNC: 24130 AceView: BCNP1 Ensembl:ENSG00000167483 euGenes: HUgn199786
ECgene: FAM129C H-InvDB: FAM129C

(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 FAM129C 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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 OriGene Custom Antibody Services for FAM129C   OriGene Custom Protein Services for FAM129C  

 
 
 Block miRNA regulation of human, mouse, rat FAM129C using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FAM129C
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM129C Predesigned siRNA for gene silencing in human, mouse, rat FAM129C
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 Custom PCR Arrays for FAM129C Search Chromatin IP Primers for FAM129C
 Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM129C  Search GeneGlobe Interaction Network for FAM129C
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 Search Tocris compounds for FAM129C (NIBL2)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Browse ESI BIO Cell Lines and PureStem Progenitors for FAM129C
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM129C
 SwitchGear 3'UTR luciferase reporter plasmids for FAM129C
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM129C
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM129C
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 Search Addgene for plasmids for FAM129C
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  eBioscience FlowRNA Probe Sets
       
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

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