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FAM101B Gene

protein-coding   GIFtS: 45
GCID: GC17M000294

Family With Sequence Similarity 101, Member B

  See related diseases
at  

(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 101, Member B1 2
Protein FAM101B2

External Ids:    HGNC: 287051   Entrez Gene: 3598452   Ensembl: ENSG000001836887   UniProtKB: Q8N5W93   

Export aliases for FAM101B gene to outside databases


(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 FAM101B Gene:
FAM101B (family with sequence similarity 101, member B) is a protein-coding gene. Diseases associated with FAM101B include epididymitis, and retinitis. GO annotations related to this gene include filamin binding. An important paralog of this gene is FAM101A.


(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:
NC_000017.11  NC_018928.2  NT_024972.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM101B gene promoter:
         GR   NCX/Ncx   NRSF form 1   Pax-2   Pax-2a   NRSF form 2   GATA-6   Pax-2b   GR-alpha   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM101B promoter sequence
   Search Chromatin IP Primers for FAM101B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM101B


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

Entrez Gene cytogenetic band: 17p13   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13

FAM101B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM101B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M000294:  view genomic region     (about GC identifiers)

Start:
289,769 bp from pter      End:
295,731 bp from pter
Size:
5,963 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003315951 37,341-43,303     

(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, 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., 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: F101B_HUMAN, Q8N5W9 (See protein sequence)
Recommended Name: Protein FAM101B  
Size: 214 amino acids; 22882 Da

Explore the universe of human proteins at neXtProt for FAM101B: NX_Q8N5W9

Explore proteomics data for FAM101B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM101B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_874364.1  
    ENSEMBL proteins: 
     ENSP00000331915  

    FAM101B Human Recombinant Protein Products:

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    Cloud-Clone Corp. ELISAs for FAM101B
    Cloud-Clone Corp. CLIAs for FAM101B


    (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:
     IPR028215 FAM101

    Graphical View of Domain Structure for InterPro Entry Q8N5W9

    ProtoNet protein and cluster: Q8N5W9

    UniProtKB/Swiss-Prot: F101B_HUMAN, Q8N5W9
    Similarity: Belongs to the FAM101 family


    FAM101B 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031005filamin binding IDA--
         
    FAM101B for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Fam101b):
     normal 

    FAM101B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM101B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM101B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAM101B

    miRNA
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    miRTarBase miRNAs that target FAM101B:
    hsa-mir-192-5p (MIRT026777), hsa-mir-193b-3p (MIRT016568)

    Block miRNA regulation of human, mouse, rat FAM101B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM101B (see all 31):
    hsa-miR-26a-2* hsa-miR-19b-2* hsa-miR-330-5p hsa-miR-2110 hsa-miR-15a hsa-miR-202 hsa-miR-29c hsa-miR-29a
    SwitchGear 3'UTR luciferase reporter plasmidFAM101B 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM101B

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: FAM101B (NM_182705)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM101B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM101B

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM101B


    (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
    cytoskeleton2
    extracellular2
    cytosol1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015629actin cytoskeleton IEA--

    FAM101B for ontologies           About GeneDecksing


    (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 FAM101B
    Interactions:

        Search GeneGlobe Interaction Network for FAM101B

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

    4 Interacting proteins for FAM101B (Q8N5W92, 3 ENSP000003319154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1R16AQ96I342, 3, ENSP000002925394MINT-65184 I2D: score=4 STRING: ENSP00000292539
    KAT5Q929932, 3MINT-64913 I2D: score=5 
    TNFRSF10CO147982, 3MINT-63078 I2D: score=5 
    ZBTB16Q055162, 3MINT-64912 I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001837epithelial to mesenchymal transition IEA--
    GO:0030036actin cytoskeleton organization IEA--

    FAM101B for ontologies           About GeneDecksing



    (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 FAM101B (F101B)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM101B gene: 
    NM_182705.2  

    Unigene Cluster for FAM101B:

    Family with sequence similarity 101, member B
    Hs.345588  [show with all ESTs]
    Unigene Representative Sequence: AK093557
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000329099(uc002frj.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FAM101B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM101B (see all 31):
    hsa-miR-26a-2* hsa-miR-19b-2* hsa-miR-330-5p hsa-miR-2110 hsa-miR-15a hsa-miR-202 hsa-miR-29c hsa-miR-29a
    SwitchGear 3'UTR luciferase reporter plasmidFAM101B 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FAM101B
    Predesigned siRNA for gene silencing in human, mouse, rat FAM101B
    Clone
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    OriGene clones in human, mouse for FAM101B (see all 6)
    OriGene ORF clones in mouse, rat for FAM101B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FAM101B (NM_182705)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM101B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM101B
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM101B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FAM101B
      QuantiTect SYBR Green Assays in human, mouse, rat FAM101B
      QuantiFast Probe-based Assays in human, mouse, rat FAM101B

    Additional mRNA sequence: AK093557.1 

    5 DOTS entries:

    DT.95264420  DT.100022157  DT.100746101  DT.100699157  DT.97836808 

    Selected AceView cDNA sequences (see all 126):

    BE909520 BC014203 AI077885 BQ081940 AI809021 AI589914 BM840481 AA782653 
    BF591441 AI087002 BU618199 AA046803 AI382308 AI074811 AA927591 AW028411 
    AA046820 AI401564 BE672956 AA861036 AI961778 AI127730 BQ669154 AI086089 

    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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    FAM101B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATATAAAAAA
    FAM101B Expression
    About this image


    FAM101B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Inner Cell Mass Cells Inner Cell Mass
             Human embryonic stem cells (family)
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    FAM101B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM101B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.345588
        Custom PCR Arrays for FAM101B
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM101B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM101B

    (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 FAM101B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam101b1 , 5 family with sequence similarity 101, member B1, 5 81.62(n)1
    80.37(a)1
      11 (45.92 cM)5
    765661  NM_029658.11  NP_083934.11 
     760191945 
    chicken
    (Gallus gallus)
    Aves FAM101B1 family with sequence similarity 101, member B 69.78(n)
    62.62(a)
      417623  XM_415867.4  XP_415867.3 
    lizard
    (Anolis carolinensis)
    Reptilia FAM101B6
    family with sequence similarity 101, member B
    62(a)
    1 ↔ 1
    GL343543.1(541332-542589)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX762421.12   -- 74.34(n)    BX762421.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam101b1 family with sequence similarity 101, member B 61.9(n)
    56.3(a)
      100286814  XM_002664625.2  XP_002664671.1 


    ENSEMBL Gene Tree for FAM101B (if available)
    TreeFam Gene Tree for FAM101B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM101B gene
    FAM101A2  
    1 SIMAP similar gene for FAM101B using alignment to 3 protein entries:     F101B_HUMAN (see all proteins):
    FAM101A

    FAM101B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FAM101B
    PGOHUM00000245810


    (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 FAM101B (see all 251)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs98898151,2
    C--289262(+) acctcC/Tgcctc 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1139643561,2
    C,F--289265(+) TCCGCT/CTCCCG 1 -- ds50012Minor allele frequency- C:0.33WA CSA 3
    rs1133105221,2
    C,F--289269(+) CCTCCC/TGGGTT 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1475943121,2
    C--289363(+) GTAGAA/GACGGG 1 -- ds50010--------
    rs1417024341,2
    C--289468(+) TACGGC/TGCCTG 1 -- ds50010--------
    rs1437679891,2
    --289521(+) CACACA/TGCATT 1 -- ds50010--------
    rs1481508191,2
    --289537(+) GGCTGA/GTCTCG 1 -- ds50010--------
    rs1148560731,2
    C,F--289542(+) ATCTCG/AAACTC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1419949961,2
    C--289696(+) TGAGGA/GGCTGT 1 -- ds50010--------
    rs99087791,2
    C,F,A,H--289701(+) AGCTGT/CTTTTC 1 -- ds50019Minor allele frequency- C:0.27NA WA CSA EA 372

    HapMap Linkage Disequilibrium report for FAM101B (289769 - 295731 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FAM101B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422420CNV Duplication17116639
    nsv522031CNV Gain19592680
    nsv907452CNV Gain21882294
    nsv457627CNV Gain19166990
    nsv827849CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM101B
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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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    2 diseases for FAM101B:    
    About MalaCards
    epididymitis    retinitis


    FAM101B for disorders           About GeneDecksing


    Export disorders for FAM101B 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 FAM101B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM101B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genome Res. 2004)
    2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 359845 HGNC: 28705 AceView: MGC45871 Ensembl:ENSG00000183688 euGenes: HUgn359845
    ECgene: FAM101B H-InvDB: FAM101B

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for FAM101B 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 FAM101B gene:
    Search GeneIP for patents involving FAM101B

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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