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FAM69B Gene

protein-coding   GIFtS: 44
GCID: GC09P139607

Family With Sequence Similarity 69, Member B

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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 69, Member B1 2
C9orf1362 3
pp69772
Protein FAM69B2

External Ids:    HGNC: 282901   Entrez Gene: 1383112   Ensembl: ENSG000001657167   OMIM: 6145435   UniProtKB: Q5VUD63   

Export aliases for FAM69B gene to outside databases

Previous GC identifers: GC09P136883 GC09P138726 GC09P109066


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FAM69B Gene:
This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins
localize to the endoplasmic reticulum but their specific functions are unknown. (provided by RefSeq, Nov 2011)

GeneCards Summary for FAM69B Gene:
FAM69B (family with sequence similarity 69, member B) is a protein-coding gene. An important paralog of this gene is FAM69A.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the FAM69B gene promoter:
         PPAR-gamma1   C/EBPbeta   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM69B promoter sequence
   Search Chromatin IP Primers for FAM69B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM69B


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

FAM69B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM69B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P139607:  view genomic region     (about GC identifiers)

Start:
139,607,022 bp from pter      End:
139,619,170 bp from pter
Size:
12,149 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FA69B_HUMAN, Q5VUD6 (See protein sequence)
Recommended Name: Protein FAM69B  
Size: 431 amino acids; 48583 Da
Sequence caution: Sequence=AAL55862.1; Type=Frameshift; Positions=341, 393;
Secondary accessions: Q5VUD7 Q8N5N0 Q8WYU5
Alternative splicing: 2 isoforms:  Q5VUD6-1   Q5VUD6-2   

Explore the universe of human proteins at neXtProt for FAM69B: NX_Q5VUD6

Explore proteomics data for FAM69B at MOPED

Post-translational modifications: 

  • Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds (By similarity)1
  • Glycosylation2 at Thr144
  • Modification sites at PhosphoSitePlus

  • See FAM69B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689634.2  
    ENSEMBL proteins: 
     ENSP00000360757   ENSP00000360756  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR022049 FAM69_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q5VUD6

    ProtoNet protein and cluster: Q5VUD6

    UniProtKB/Swiss-Prot: FA69B_HUMAN, Q5VUD6
    Similarity: Belongs to the FAM69 family


    Find genes that share domains with FAM69B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Phenotypes:
         1 MGI phenotypic allele for Fam69b (no phenotypes)

    Find genes that share phenotypes with FAM69B           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAM69B

    miRNA
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    miRTarBase miRNAs that target FAM69B:
    hsa-mir-92a-3p (MIRT049801)

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    (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 UniProtKB/Swiss-Prot
    FA69B_HUMAN, Q5VUD6: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    golgi apparatus2
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with FAM69B           About GenesLikeMe


    (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 FAM69B
    Interactions:

        Search GeneGlobe Interaction Network for FAM69B

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

    1 Interacting protein for FAM69B (Q5VUD63 ENSP000003607574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBMS2Q154343, ENSP000002620314I2D: score=4 STRING: ENSP00000262031
    About this table

    (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 FAM69B (FA69B)



    (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 FAM69B gene: 
    NM_152421.3  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371692(uc004cik.3) ENST00000371691(uc004cil.3)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat FAM69B

    Selected AceView cDNA sequences (see all 98):

    AI418487 AW474739 AW583835 BG014223 AA866005 CA951022 AA707093 BC032097 
    NM_152421 BU072413 CA773660 BQ286135 BQ269494 BG766109 BM018646 AI016161 
    BV174386 BM263860 CA950774 AI040652 BG700129 N92339 AJ420457 AI095583 

    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™, 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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    FAM69B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACATCCCGG
    FAM69B Expression
    About this image


    FAM69B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    FAM69B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM69B Protein Expression
        Custom PCR Arrays for FAM69B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM69B

    (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 chordates.

    Orthologs for FAM69B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam69b1 , 5 family with sequence similarity 69, member B1, 5 85.54(n)1
    88.86(a)1
      2 (18.97 cM)5
    562791  NM_019833.31  NP_062807.21 
     266284575 
    chicken
    (Gallus gallus)
    Aves FAM69B1 family with sequence similarity 69, member B 70.92(n)
    67.05(a)
      417139  XM_415423.4  XP_415423.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM69B6
    family with sequence similarity 69, member B
    63(a)
    1 ↔ 1
    GL344876.1(1818-9990)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fam69b1 family with sequence similarity 69, member B 71.77(n)
    65.2(a)
      100036673  NM_001097225.1  NP_001090694.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam69b1 family with sequence similarity 69, member B 62.95(n)
    62.09(a)
      567731  NM_001128738.1  NP_001122210.1 


    ENSEMBL Gene Tree for FAM69B (if available)
    TreeFam Gene Tree for FAM69B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM69B gene
    FAM69A2  
    1 SIMAP similar gene for FAM69B using alignment to 1 protein entry:     FA69B_HUMAN:
    FAM69A

    Find genes that share paralogs with FAM69B           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 FAM69B (see all 436)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs746892861,2
    C,F--139605189(+) AAATTT/ACTTAG 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1911991561,2
    --139605288(+) GATCGA/CTTGAG 1 -- us2k10--------
    rs1838745371,2
    --139605366(+) GCCTGC/GTGTGG 1 -- us2k10--------
    rs1409016991,2
    --139605394(+) TGCCTG/TTAATG 1 -- us2k10--------
    rs1494141421,2
    --139605457(+) GGCCAA/GCATAG 1 -- us2k10--------
    rs1447301781,2
    C--139605500(+) TAGCCC/G/TGGCAT 1 -- us2k10--------
    rs1485213281,2
    C--139605600(+) ATCGCA/GCCACT 1 -- us2k10--------
    rs343829151,2
    C--139605642(+) AAAAA-/AGGAAA 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1126412291,2
    C,F--139605832(+) GCTGAA/GGCAGG 1 -- us2k12Minor allele frequency- G:0.33WA CSA 3
    rs1863865251,2
    C--139605879(+) GCCTGA/GGCAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM69B (139607022 - 139619170 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM69B (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2420501CNV Deletion18987734
    esv4681CNV Deletion18987735
    esv1163941CNV Deletion17803354
    esv2671283CNV Deletion23128226
    esv2739383CNV Deletion23290073
    esv1004940CNV Deletion20482838
    esv2422220CNV Deletion17116639
    esv2739385CNV Deletion23290073
    nsv6769CNV Insertion18451855
    nsv509334CNV Insertion20534489

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 614543    OMIM disorders: --


    Find genes that share disorders with FAM69B           About GenesLikeMe


    Export disorders for FAM69B 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 FAM69B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM69B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. (PubMed id 21334309)1, 3 Tennant-Eyles A.J....Roberts R.G. (Biochem. Biophys. Res. Commun. 2011)
    2. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    3. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)
    5. 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)
    6. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    7. 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: 138311 HGNC: 28290 AceView: MGC20262 Ensembl:ENSG00000165716 euGenes: HUgn138311
    ECgene: FAM69B H-InvDB: FAM69B

    (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 FAM69B 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 FAM69B gene:
    Search GeneIP for patents involving FAM69B

    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, eBioscience, antibodies-online, 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 genOway)
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    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 , 7 Oct 2014

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