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FAM21B Gene

protein-coding   GIFtS: 38
GCID: GC10P047894

Family With Sequence Similarity 21, Member B

  See FAM21B-related disease
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 21, Member B1 2
FAM21A2
bA98I6.12
Family With Sequence Similarity 21, Member A2
WASH Complex Subunit FAM21B2

External Ids:    HGNC: 234171   Entrez Gene: 557472   Ensembl: ENSG000001527267   UniProtKB: Q5SNT63   

Export aliases for FAM21B gene to outside databases

Previous GC identifers: GC10U900460 GC10P047415 GC10P045861


(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 FAM21B Gene:
FAM21B (family with sequence similarity 21, member B) is a protein-coding gene. Diseases associated with FAM21B include brain cancer. An important paralog of this gene is FAM21A.

UniProtKB/Swiss-Prot: FA21B_HUMAN, Q5SNT6
Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates
the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules
that serve as transport intermediates during endosome sorting. In the complex, it probably mediates the
recruitment of the complex to endosome membranes (By similarity)




(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_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM21B gene promoter:
         PPAR-gamma1   POU2F1   Pax-6   Nkx2-2   POU2F1a   PPAR-gamma2   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM21B promoter sequence
   Search Chromatin IP Primers for FAM21B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM21B


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

Entrez Gene cytogenetic band: 10q11.22   Ensembl cytogenetic band:  10q11.22   HGNC cytogenetic band: 10q11.22

FAM21B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM21B gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P047894:  view genomic region     (about GC identifiers)

Start:
47,894,023 bp from pter      End:
47,949,417 bp from pter
Size:
55,395 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: FA21B_HUMAN, Q5SNT6 (See protein sequence)
Recommended Name: WASH complex subunit FAM21B  
Size: 1253 amino acids; 136969 Da
Subunit: Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or
CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P),
FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53. Interacts (via N-terminus) with WASH1; the
interaction is direct (By similarity)
Miscellaneous: In human, FAM21 has undergone evolutionary duplication, with 4 highly homologous family members
existing, including FAM21A, FAM21B, FAM21C, and an N-terminally truncated FAM21D form
Sequence caution: Sequence=CAI17187.1; Type=Erroneous gene model prediction;

Explore the universe of human proteins at neXtProt for FAM21B: NX_Q5SNT6

Explore proteomics data for FAM21B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM21B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060702.1  
    ENSEMBL proteins: 
     ENSP00000351259   ENSP00000348138  

    FAM21B Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for FAM21B
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FAM21B

     
    Search eBioscience for Proteins for FAM21B 

     
    Search antibodies-online for proteins for FAM21B 

     
    Search antibodies-online for peptides for FAM21B

    FAM21B Antibody Products:

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    Cloud-Clone Corp. Antibodies for FAM21B
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    Search antibodies-online for antibodies for FAM21B 

    FAM21B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for FAM21B
    Cloud-Clone Corp. CLIAs for FAM21B
    Search eBioscience for ELISAs for FAM21B 
    antibodies-online kits for FAM21B (2 products) 


    (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:
     IPR027308 FAM21

    Graphical View of Domain Structure for InterPro Entry Q5SNT6

    ProtoNet protein and cluster: Q5SNT6

    UniProtKB/Swiss-Prot: FA21B_HUMAN, Q5SNT6
    Similarity: Belongs to the FAM21 family


    Find genes that share domains with FAM21B           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA21B_HUMAN, Q5SNT6
    Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates
    the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules
    that serve as transport intermediates during endosome sorting. In the complex, it probably mediates the
    recruitment of the complex to endosome membranes (By similarity)

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for FAM21B

    miRNA
    Products:
        
    miRTarBase miRNAs that target FAM21B:
    hsa-mir-769-5p (MIRT039216), hsa-mir-149-5p (MIRT045584)

    Block miRNA regulation of human, mouse, rat FAM21B using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate FAM21B:
    hsa-miR-152 hsa-miR-148b hsa-miR-10b hsa-miR-148a hsa-miR-10a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Clone
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM21B
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FAM21B

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM21B


    (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
    FA21B_HUMAN, Q5SNT6: Early endosome membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome4
    nucleus3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome ISS--
    GO:0031901early endosome membrane IEA--
    GO:0071203WASH complex ISS--

    Find genes that share ontologies with FAM21B           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 FAM21B
    Interactions:

        Search GeneGlobe Interaction Network for FAM21B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for FAM21B (ENSP000003512594) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPZA1ENSP000002631684STRING: ENSP00000263168
    CCDC53ENSP000002400794STRING: ENSP00000240079
    FAM21AENSP000002826334STRING: ENSP00000282633
    FAM21CENSP000003375414STRING: ENSP00000337541
    FAM21DENSP000003097864STRING: ENSP00000309786
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042147retrograde transport, endosome to Golgi ISS--

    Find genes that share ontologies with FAM21B           About GenesLikeMe



    (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 FAM21B (FA21B)



    (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 FAM21B gene: 
    NM_018232.1  

    Unigene Cluster for FAM21B:

    Family with sequence similarity 21, member B
    Hs.449662  [show with all ESTs]
    Unigene Representative Sequence: NM_018232
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358474(uc009xni.3 uc001jep.4 uc001jeq.4) ENST00000355876
    ENST00000490584
    miRNA
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    Block miRNA regulation of human, mouse, rat FAM21B using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate FAM21B:
    hsa-miR-152 hsa-miR-148b hsa-miR-10b hsa-miR-148a hsa-miR-10a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: FAM21B (NM_018232)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM21B
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FAM21B
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FAM21B
      QuantiTect SYBR Green Assays in human, mouse, rat FAM21B
      QuantiFast Probe-based Assays in human, mouse, rat FAM21B

    Additional mRNA sequence: 

    AK125147.1 AK311628.1 

    21 DOTS entries:

    DT.75179780  DT.102840051  DT.102834635  DT.448378  DT.121250323  DT.121251171  DT.100760574  DT.100790428 
    DT.121250316  DT.121250329  DT.121250338  DT.121251209  DT.40228095  DT.95145660  DT.95333122  DT.101982956 
    DT.121250330  DT.121251158  DT.121281526  DT.121289139  DT.99959336 

    Selected AceView cDNA sequences (see all 187):

    BE384377 AW150909 AW627847 AA873511 AA766266 AI672057 AI654463 BQ063116 
    AI051105 AI675541 AI539645 BQ189351 BU690083 AW961951 AA034200 BQ061175 
    AA248381 BQ642689 AA844154 BI494140 AA806477 BE744050 AA708515 AK125147 

    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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    FAM21B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FAM21B Expression
    About this image

    FAM21B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM21B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.449662
        Custom PCR Arrays for FAM21B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM21B

    (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 FAM21B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM21A6
    Gallus gallus family with sequence similarity 21, ...
    47(a)
    1 → many
    6(17329997-17360643)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    45(a)
    1 → many
    GL343297.1(359191-399942)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.233752 Xenopus laevis transcribed sequence with weak similarity more 74.25(n)    CA974368.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb78c062 Transcribed sequence with weak similarity to protein more 82.67(n)    57045920 
            Species with no ortholog for FAM21B

    ENSEMBL Gene Tree for FAM21B (if available)
    TreeFam Gene Tree for FAM21B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM21B gene
    FAM21A2  FAM21C2  FAM21D2  
    4 SIMAP similar genes for FAM21B using alignment to 5 protein entries:     FA21B_HUMAN (see all proteins):
    FAM21D    FAM21C    FAM21A    DKFZp434O171

    Find genes that share paralogs with FAM21B           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 FAM21B (see all 149)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1468711251,2
    C--47892781(+) GAGGCC/TGAGGT 1 -- us2k10--------
    rs1892713901,2
    C--47898020(+) TTCTCC/TCTTTT 1 -- int10--------
    rs1819790631,2
    C--47898043(+) CAGAGA/GAAGTT 1 -- int10--------
    rs2004874611,2
    F--47903205(+) AAACCG/AGGTAA 2 /Q /R mis11Minor allele frequency- A:0.01EU 489
    rs1857675671,2
    --47906410(+) TATATA/TTATAT 1 -- int10--------
    rs1905617281,2
    --47907981(+) GTTATA/GAGGAT 1 -- int10--------
    rs112598391,2
    C--47908905(+) ATCTAG/TATCCA 1 -- int10--------
    rs2010377971,2
    C--47909160(+) CTTTCT/GGTTTG 1 -- int11Minor allele frequency- G:0.00EU 485
    rs2018032451,2
    C,F--47909198(+) CCCCCC/AAAGCT 2 /P syn11Minor allele frequency- A:0.01EU 439
    rs1998916751,2
    C,F--47909267(+) GGGCTA/C/GTTTGA 3 L syn11EU 364

    HapMap Linkage Disequilibrium report for FAM21B (47894023 - 47949417 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM21B (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv138e199CNV Deletion23128226
    esv2663818CNV Deletion23128226
    nsv436102CNV Deletion17901297
    esv2736163CNV Deletion23290073
    nsv821088CNV Deletion20802225
    nsv471356CNV Duplication19718026
    nsv831868CNV Loss17160897
    nsv825377CNV Loss20364138
    nsv518071CNV Gain19592680
    esv24278CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM21B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM21B

    (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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    1 disease for FAM21B:    
    About MalaCards
    brain cancer


    Find genes that share disorders with FAM21B           About GenesLikeMe


    Export disorders for FAM21B 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 FAM21B gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with FAM21B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    2. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    4. Control of HIV replication in astrocytes by a family of highly conserved host proteins with a common Rev-interacting domain (Risp). (PubMed id 20827171)1 Vincendeau M....Brack-Werner R. (AIDS 2010)
    5. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. Identification of a novel Rev-interacting cellular protein. (PubMed id 15847701)1 Kramer-HAommerle S....Brack-Werner R. (BMC Cell Biol. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (Nature 2004)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 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: 55747 HGNC: 23417 AceView: FLJ10824 Ensembl:ENSG00000152726 euGenes: HUgn55747
    ECgene: FAM21B H-InvDB: FAM21B

    (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 FAM21B 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 FAM21B gene:
    Search GeneIP for patents involving FAM21B

    GeneCards and IP:
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