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

FAM189B Gene

protein-coding   GIFtS: 44
GCID: GC01M155216

family with sequence similarity 189, member B

(Previous name: chromosome 1 open reading frame 2 )
(Previous symbol: C1orf2)
 Explore 1 disease affiliated with
FAM189B via our new
 Human Malady Compendium 
Biological research products
for FAM189B
    

(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 189, Member B1 2     Cote11
C1orf21 2 3     Protein FAM189B2
COTE12 3     Protein COTE13
Chromosome 1 Open Reading Frame 21     

External Ids:    HGNC: 12331   Entrez Gene: 107122   Ensembl: ENSG000001607677   UniProtKB: P814083   

Export aliases for FAM189B gene to outside databases

Previous GC identifers: GC01M153484 GC01M126579


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

Entrez Gene summary for FAM189B:
This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is
associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW
domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Dec 2010)




(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:
   Search SABiosciences Regulatory transcription factor binding sites for FAM189B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM189B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM189B


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q21

FAM189B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM189B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155216:  view genomic region     (about GC identifiers)

Start:
155,216,996 bp from pter      End:
155,225,274 bp from pter
Size:
8,279 bases      Orientation:
minus strand

1 alternative location:
Chr1-,PATCHES 155,232,386-155,240,664     

(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: F189B_HUMAN, P81408 (See protein sequence)
Recommended Name: Protein FAM189B  
Size: 668 amino acids; 71355 Da
Subunit: May interact with WWOX
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q8IXL3 Q9BR66
Alternative splicing: 2 isoforms:  P81408-1   P81408-2   

Explore the universe of human proteins at neXtProt for FAM189B: NX_P81408

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P81408

  • FAM189B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001254537.1  NP_006580.2  NP_937995.1  

    ENSEMBL proteins: 
     ENSP00000307128   ENSP00000357352   ENSP00000354958   ENSP00000427520   ENSP00000427011  

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    Novus Biologicals FAM189B Protein
    Novus Biologicals FAM189B Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FAM189B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane NAS--


    FAM189B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FAM189B


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

    FAM189B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007237 CD20-like

    Graphical View of Domain Structure for InterPro Entry P81408

    ProtoNet protein and cluster: P81408

    UniProtKB/Swiss-Prot: F189B_HUMAN, P81408
    Similarity: Belongs to the FAM189 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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    hsa-miR-3194-5p hsa-miR-550a hsa-miR-15a hsa-miR-575 hsa-miR-1301 hsa-miR-497 hsa-miR-103a hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidFAM189B 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189B

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15064722
    GO:0050699WW domain binding IPI15064722


    FAM189B 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 FAM189B

    3 Interacting proteins for FAM189B (P814081, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNTA1Q134243I2D: score=1 
    YWHAZP631043I2D: score=1 
    WWOXQ9NZC71EBI-6366314,EBI-4320739
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    FAM189B 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 FAM189B
    Search CenterWatch for drugs/clinical trials and news about FAM189B / F189B 

    (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 FAM189B gene (3 alternative transcripts): 
    NM_001267608.1  NM_006589.2  NM_198264.1  

    Unigene Cluster for FAM189B:

    Family with sequence similarity 189, member B
    Hs.348308  [show with all ESTs]
    Unigene Representative Sequence: NM_006589
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000350210(uc009wql.3) ENST00000368366 ENST00000368368 ENST00000361361(uc001fjm.3 uc001fjn.3 uc001fjo.3 uc001fjp.3)
    ENST00000487649 ENST00000491082 ENST00000497941 ENST00000472550 ENST00000481822(uc001fjq.1)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM189B
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM189B (see all 15):
    hsa-miR-3194-5p hsa-miR-550a hsa-miR-15a hsa-miR-575 hsa-miR-1301 hsa-miR-497 hsa-miR-103a hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidFAM189B 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM189B (see all 4)
    OriGene shRNA RFP: FAM189B
    OriGene siRNA: FAM189B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM189B
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM189B (see all 4)
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    Additional cDNA sequence: 

    AF070550.1 BC006297.1 BC006493.2 BC007444.2 BC008854.2 BC010471.1 BC017262.2 BC033707.1 
    BC040136.1 

    14 DOTS entries:

    DT.100811718  DT.415458  DT.100811721  DT.91742385  DT.100754265  DT.91910649  DT.121439076  DT.91946107 
    DT.100739718  DT.121439094  DT.92020817  DT.97805151  DT.99965722  DT.100754264 

    24/369 AceView cDNA sequences (see all 369):

    BU189990 CR623321 BE514752 BF347349 AI379352 BC006493 BM826338 CD742665 
    BI859975 BQ012591 BC053603 AA653537 BG254314 BM555300 AK093335 BQ056653 
    BU186667 BM458698 AX746743 AI222824 BM696021 BQ652951 AA757530 BM987374 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for FAM189B (see all 11)    About this scheme

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


    ECgene alternative splicing isoforms for FAM189B

    (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

    FAM189B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTTGGGCA

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

    About this image
    See FAM189B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM189B

    SOURCE GeneReport for Unigene cluster: Hs.348308

    UniProtKB/Swiss-Prot: F189B_HUMAN, P81408
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for FAM189B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189B

    (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
      --

    ENSEMBL Gene Tree for FAM189B (if available)
    TreeFam Gene Tree for FAM189B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM189B gene
    FAM189A12  FAM189A22  
    1 SIMAP similar gene for FAM189B using alignment to 4 protein entries:     F189B_HUMAN (see all proteins):
    FAM189A1

    FAM189B 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

    10/185 NCBI SNPs in FAM189B are shown (see all 185    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs21788151,2
    C,F,H--155216719(-) TCCAGG/TCTGCA 3 -- int15Minor allele frequency- T:0.10NS NA 636
    rs1862214241,2
    --155216782(+) ACAGGC/TGTGTC 3 -- int10--------
    rs1906970191,2
    --155216874(+) TCAGGC/TGATCC 3 -- int10--------
    rs1827300391,2
    --155217139(+) GAGGTA/GGCAGA 3 -- ut310--------
    rs1150207761,2
    C,F,--155217143(+) TGGCAG/AAGCTG 3 -- ut311Minor allele frequency- A:0.04WA 118
    rs1461920471,2
    --155217211(+) GCACAC/TGTCAC 3 -- ut310--------
    rs2015155711,2
    --155217435(+) AGGTA-/ATTGGAGG 3 -- ut310--------
    rs767185271,2
    --155217436(+) AGGTAA/GGAGGG 3 -- ut310--------
    rs1163520801,2
    F,--155217437(+) GGTAGG/TAGGGA 3 -- ut313Minor allele frequency- T:0.44WA NA EA 358
    rs1997356761,2
    --155217438(+) TAGGA-/TTGGGAA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for FAM189B (155216996 - 155225274 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for FAM189B
         4 CNVs: 65018 3315 4257 6789

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM189B
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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

    FAM189B for disorders           About GeneDecksing

    1 disease for FAM189B:    About MalaCards
    gaucher's disease

    Human Genome Epidemiology (HuGE) Navigator: FAM189B (3 documents)

    Export disorders for FAM189B 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 FAM189B gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FAM189B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PubMed id 9331372)1, 2, 3 Winfield S.L.... Sidransky E. (1997)
    2. WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins. (PubMed id 15064722)1, 2 Ludes-Meyers J.H....Aldaz C.M. (2004)
    3. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    4. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    5. SREBP-1 regulates the expression of heme oxygenase 1 and the phosphatidylinositol-3 kinase regulatory subunit p55 gamma. (PubMed id 17452746)1 Kallin A....Demoulin J.B. (2007)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. 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: 10712 HGNC: 1233 AceView: CLK2andC1orf2 Ensembl:ENSG00000160767 euGenes: HUgn10712
    ECgene: FAM189B H-InvDB: FAM189B

    (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 FAM189B 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 FAM189B gene:
    Search GeneIP for patents involving FAM189B

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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM189B
           
    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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