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

FAM46B Gene

protein-coding   GIFtS: 41
GCID: GC01M027331

Family With Sequence Similarity 46, Member B

  Search for FAM46B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Family With Sequence Similarity 46, Member B1 2
RP11-344H11.82
Protein FAM46B2

External Ids:    HGNC: 282731   Entrez Gene: 1155722   Ensembl: ENSG000001582467   UniProtKB: Q96A093   

Export aliases for FAM46B gene to outside databases

Previous GC identifers: GC01M027015 GC01M027204 GC01M025584


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

GeneCards Summary for FAM46B Gene: 
FAM46B (family with sequence similarity 46, member B) is a protein-coding gene. An important paralog of this gene is FAM46D.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM46B gene promoter:
         AhR   RFX1   NRSF form 1   MIF-1   AP-2gamma   NRSF form 2   ARP-1   Msx-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM46B promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM46B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM46B


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

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p35.3

FAM46B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM46B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M027331:  view genomic region     (about GC identifiers)

Start:
27,331,511 bp from pter      End:
27,339,333 bp from pter
Size:
7,823 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FA46B_HUMAN, Q96A09 (See protein sequence)
Recommended Name: Protein FAM46B  
Size: 425 amino acids; 46688 Da
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
Sequence caution: Sequence=AAH12790.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH14160.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI13555.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;

Explore the universe of human proteins at neXtProt for FAM46B: NX_Q96A09

Explore proteomics data for FAM46B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96A09

  • FAM46B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM46B Protein Expression
    REFSEQ proteins: NP_443175.2  
    ENSEMBL proteins: 
     ENSP00000289166  

    Human Recombinant Protein Products for FAM46B: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR012937 DUF1693

    Graphical View of Domain Structure for InterPro Entry Q96A09

    ProtoNet protein and cluster: Q96A09

    UniProtKB/Swiss-Prot: FA46B_HUMAN, Q96A09
    Similarity: Belongs to the FAM46 family


    FAM46B for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for FAM46B:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM46B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FAM46B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM46B 
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    SwitchGear 3'UTR luciferase reporter plasmidFAM46B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM46B

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for FAM46B (Q96A092, 3 ENSP000002891664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2878252 I2D: score=3 STRING: ENSP00000244769
    RHOXF2Q9BQY43, ENSP000003604414I2D: score=3 STRING: ENSP00000360441
    DAZAP2Q150383, ENSP000004049684I2D: score=1 STRING: ENSP00000404968
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 FAM46B (FA46B)

    Search CenterWatch for drugs/clinical trials and news about FAM46B / FA46B

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM46B gene: 
    NM_052943.3  

    Unigene Cluster for FAM46B:

    Family with sequence similarity 46, member B
    Hs.632378  [show with all ESTs]
    Unigene Representative Sequence: NM_052943
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000289166(uc010ofj.2)
    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM46B (see all 14):
    hsa-miR-301b hsa-miR-4318 hsa-miR-301a hsa-miR-3666 hsa-miR-3922-3p hsa-miR-4295 hsa-miR-19b hsa-miR-454
    SwitchGear 3'UTR luciferase reporter plasmidFAM46B 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FAM46B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM46B
    Clone
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    OriGene clones in human, mouse for FAM46B (see all 10)
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    GenScript: all cDNA clones in your preferred vector: FAM46B (NM_052943)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM46B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM46B
    Sirion Biotech Customized lentivirus for stable overexpression of FAM46B 
                         Customized lentivirus expression plasmids for stable overexpression of FAM46B 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FAM46B
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM46B
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM46B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM46B

    Additional mRNA sequence: 

    AK122816.1 BC012790.2 BC014160.2 BC036320.1 

    1 DOTS entry:

    DT.409273 

    24/51 AceView cDNA sequences (see all 51):

    BC036320 BC014160 BM673276 BC012790 BQ680273 BF725123 BX284002 NM_052943 
    AI493205 BF725124 BX403518 AK122816 CA313172 BU634206 BM707118 AI858199 
    AA045825 CA944965 BU838922 BG681346 BM017104 BM042362 BQ893131 BM018120 

    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™, 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

    FAM46B expression in normal human tissues (normalized intensities)      FAM46B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTAGGGGA
    FAM46B Expression
    About this image


    FAM46B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 8 entries
             CyT49
             ESI-049   
     
     Oral Cavity (Integumentary System)
             Human Oral Keritinocytes (HOK)   
     
     Intestine
             Human Villous Capillary Endothelial Cells (HVCEC)   
     
     Lung (Respiratory System)
             Human Small Airway Epithelial Cells (HSAEpiC)   
     
     Ovary (Reproductive System)
             oocyte   

    See FAM46B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM46B

    SOURCE GeneReport for Unigene cluster: Hs.632378
        SABiosciences Custom PCR Arrays for FAM46B
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM46B

    (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 animals.

    Orthologs for FAM46B gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam46b1 , 5 family with sequence similarity 46, member B1, 5 87.22(n)1
    91.76(a)1
      4 (66.25 cM)5
    1003421  NM_175307.61  NP_780516.11 
     1334801325 
    chicken
    (Gallus gallus)
    Aves FAM46B6
    Uncharacterized protein
    68(a)
    1 ↔ 1
    23(1850123-1854951)
    lizard
    (Anolis carolinensis)
    Reptilia FAM46B6
    Uncharacterized protein
    63(a)
    1 ↔ 1
    GL343488.1(336807-355254)
    zebrafish
    (Danio rerio)
    Actinopterygii fam46bb6
    fam46ba6
    family with sequence similarity 46, member Ba
    65(a)
    65(a)
    1 ↔ many
    1 ↔ many
    19(14006032-14020448)
    16(36464082-36473792)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304976
    --
    23(a)
    1 → many
    2R(3624524-3670142)
    worm
    (Caenorhabditis elegans)
    Secernentea pqn-446
    Protein PQN-44, isoform c
    34(a)
    1 → many
    I(5372851-5384508)


    ENSEMBL Gene Tree for FAM46B (if available)
    TreeFam Gene Tree for FAM46B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM46B gene
    FAM46D2  FAM46C2  FAM46A2  
    4 SIMAP similar genes for FAM46B using alignment to 1 protein entry:     FA46B_HUMAN:
    FAM46A    FAM46C    XTP11    FAM46D

    FAM46B for paralogs           About GeneDecksing



    (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) 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

    10/223 SNPs in FAM46B are shown (see all 223)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1915039671,2
    --27331121(+) CCCAGC/GCTGTT 1 -- int10--------
    rs1838842531,2
    --27331180(+) GTACCC/TCTGAG 1 -- int10--------
    rs1484898901,2
    --27331182(+) ACCCCG/TGAGCA 1 -- int10--------
    rs1441491191,2
    --27331336(+) AGGCTA/GCGGCT 1 -- int10--------
    rs1491688991,2
    C--27331351(+) TTGGG-/AGAAGGAG 1 -- int10--------
    rs1882626311,2
    --27331442(+) AACTGC/GGGGAG 1 -- int10--------
    rs1816014481,2
    --27331588(+) GGGGTA/GGGAGT 1 -- ut310--------
    rs1861746311,2
    --27331657(+) ACTTGA/TCTGTG 1 -- ut310--------
    rs749583921,2
    C,F--27331765(+) GGGCTG/TCGACC 1 -- ut312Minor allele frequency- T:0.06WA NA 238
    rs115201,2
    C--27331793(+) CTCCTG/TTATAC 1 -- ut31 ese33Minor allele frequency- T:0.00MN NA 188

    HapMap Linkage Disequilibrium report for FAM46B (27331511 - 27339333 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FAM46B:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv870497CNV Loss21882294
    nsv834535CNV Gain+Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 FAM46B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM46B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. 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)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (2013)
    5. An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
    6. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    8. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    (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: 115572 HGNC: 28273 AceView: FAM46B Ensembl:ENSG00000158246 euGenes: HUgn115572
    ECgene: FAM46B H-InvDB: FAM46B

    (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 FAM46B 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 FAM46B gene:
    Search GeneIP for patents involving FAM46B

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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