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

FAM21C Gene

protein-coding   GIFtS: 46
GCID: GC10P046222

family with sequence similarity 21, member C

 Explore 3 diseases affiliated with
FAM21C via our new
 Human Malady Compendium 
Biological research products
for FAM21C
    

(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 21, Member C1 2     Em:AC012044.31
KIAA05921 3 5     FAM21A2
VPEF2 3 5     WASH Complex Subunit FAM21C2
Vaccinia Virus Penetration Factor2 3     

External Ids:    HGNC: 234141   Entrez Gene: 2537252   Ensembl: ENSG000001726617   OMIM: 6136315   UniProtKB: Q9Y4E13   

Export aliases for FAM21C gene to outside databases

Previous GC identifers: GC10U900458 GC10P045540 GC10P042755


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

UniProtKB/Swiss-Prot: FA21C_HUMAN, Q9Y4E1
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. Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular
mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells

Gene Wiki entry for FAM21C


(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_000010.10  NC_018921.1  NT_033985.7  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM21C gene promoter:
         NF-1   NF-1/L   Pax-5   MEF-2   Nkx2-2   GATA-2   MEF-2A   aMEF-2   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM21C promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM21C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM21C


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

Entrez Gene cytogenetic band: 10q11.1   Ensembl cytogenetic band:  10q11.22   HGNC cytogenetic band: 10q11.22

FAM21C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM21C gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P046222:  view genomic region     (about GC identifiers)

Start:
46,222,648 bp from pter      End:
46,288,412 bp from pter
Size:
65,765 bases      Orientation:
plus strand

(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: FA21C_HUMAN, Q9Y4E1 (See protein sequence)
Recommended Name: WASH complex subunit FAM21C  
Size: 1318 amino acids; 144668 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
Subcellular location: Early endosome membrane. Cell membrane. Note=Partially colocalizes with RAB11A, a recycling
endosome marker. Associates with lipid raft microdomains on the plasma membrane
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=AAH06456.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA25518.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DZQ6 B9EK53 F5H0J6 F5H871 Q5SQU4 Q5SQU5 Q7L521 Q9UG79
Alternative splicing: 6 isoforms:  Q9Y4E1-1   Q9Y4E1-2   Q9Y4E1-3   Q9Y4E1-4   Q9Y4E1-5   Q9Y4E1-6   (Gene prediction confirmed by EST data)

Explore the universe of human proteins at neXtProt for FAM21C: NX_Q9Y4E1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y4E1

  • FAM21C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001162577.1  NP_001162578.1  NP_056077.2  

    ENSEMBL proteins: 
     ENSP00000363482   ENSP00000416630   ENSP00000363479   ENSP00000337541   ENSP00000439811  
     ENSP00000442128   ENSP00000352922  

    Human Recombinant Protein Products: 
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    Novus Biologicals FAM21C Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FAM21C

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IDA--
    GO:0005769early endosome IDA19922874
    GO:0005886plasma membrane IEA--
    GO:0031901early endosome membrane IEA--
    GO:0071203WASH complex IDA19922875


    FAM21C for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FAM21C


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

    ProtoNet protein and cluster: Q9Y4E1

    UniProtKB/Swiss-Prot: FA21C_HUMAN, Q9Y4E1
    Similarity: Belongs to the FAM21 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

    Function Summary:

         UniProtKB/Swiss-Prot: FA21C_HUMAN, Q9Y4E1
    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. Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular
    mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells

    miRNA
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    hsa-miR-152 hsa-miR-3140-3p hsa-miR-148b hsa-miR-10b hsa-miR-148a hsa-miR-10a
    SwitchGear 3'UTR luciferase reporter plasmidFAM21C 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM21C

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19922874


    FAM21C 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 FAM21C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for FAM21C (Q9Y4E12, 3 ENSP000003375414) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2879283 I2D: score=2 STRING: ENSP00000244769
    CCDC53ENSP000002400794STRING: ENSP00000240079
    CAPZA1ENSP000002631684STRING: ENSP00000263168
    FAM21AENSP000002826334STRING: ENSP00000282633
    FAM21BENSP000003512594STRING: ENSP00000351259
    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:0042147retrograde transport, endosome to Golgi IMP19922874


    FAM21C 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 FAM21C
    Search CenterWatch for drugs/clinical trials and news about FAM21C / FA21C 

    (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 FAM21C gene (3 alternative transcripts): 
    NM_001169106.1  NM_001169107.1  NM_015262.2  

    Unigene Cluster for FAM21C:

    Family with sequence similarity 21, member C
    Hs.365286  [show with all ESTs]
    Unigene Representative Sequence: NM_015262
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374362(uc010qfj.2) ENST00000420848 ENST00000485850 ENST00000374359
    ENST00000471102(uc001jcw.3) ENST00000336378(uc001jcu.3) ENST00000540872(uc001jcs.2 uc010qfk.2)
    ENST00000537517(uc010qfi.2) ENST00000359860

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    hsa-miR-152 hsa-miR-3140-3p hsa-miR-148b hsa-miR-10b hsa-miR-148a hsa-miR-10a
    SwitchGear 3'UTR luciferase reporter plasmidFAM21C 3' UTR sequence
    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM21C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM21C

    Additional cDNA sequence: 

    AB011164.1 AK001545.1 AK126291.1 AK291430.1 AK293929.1 AK298385.1 AK303048.1 AL050279.1 
    BC006456.1 BC039561.1 BC053887.1 BC150611.1 

    24/29 DOTS entries (see all 29):

    DT.95145660  DT.100760574  DT.97774500  DT.99959336  DT.121289139  DT.102840029  DT.102844138  DT.102834635 
    DT.100774984  DT.102840051  DT.100790427  DT.121281881  DT.121289116  DT.121281526  DT.75179780  DT.100790422 
    DT.101967902  DT.121289145  DT.121281510  DT.121288860  DT.85104246  DT.100735099  DT.121288843  DT.121289127 

    24/227 AceView cDNA sequences (see all 227):

    BC006456 BQ477336 AA047097 BU687724 BU956896 W73746 AA059449 CA309916 
    AA047186 AA059448 BU902574 BM667621 CB051466 BQ643086 AI697152 AW631345 
    BM825136 AI021909 AA689607 AI289417 BU956229 CB152199 BM683766 AA789263 

    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

    FAM21C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See FAM21C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM21C

    SOURCE GeneReport for Unigene cluster: Hs.365286
        SABiosciences Custom PCR Arrays for FAM21C
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM21C

    (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 FAM21C gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM21A1 family with sequence similarity 21, member A 62.96(n)
    57.86(a)
      423772  XM_001234526.2  XP_001234527.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    47(a)
    1 → many
    GL343297.1(359803-399433)
    zebrafish
    (Danio rerio)
    Actinopterygii fam21c1 family with sequence similarity 21, member C 54.39(n)
    46.55(a)
      567272  XM_003199716.1  XP_003199764.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG167421 CG16742 39.53(n)
    25.56(a)
      37331  NM_137652.3  NP_611496.1 


    ENSEMBL Gene Tree for FAM21C (if available)
    TreeFam Gene Tree for FAM21C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM21C gene
    FAM21A1 2  FAM21D2  FAM21B2  
    4 SIMAP similar genes for FAM21C using alignment to 3 protein entries:     FA21C_HUMAN (see all proteins):
    DKFZp434O171    FAM21D    FAM21B    FAM21A

    FAM21C 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

    10/627 NCBI SNPs in FAM21C are shown (see all 627    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs413065181,2
    --45845524(+) ATTCCG/TAAATT 2 -- nc-transcript-variantus2k10--------
    rs618558091,2
    C--45847957(+) GTTCCC/TTTCAT 2 -- us2k1 int10--------
    rs28051131,2
    C,--45848111(+) GGATTC/TTTCAA 2 -- us2k1 int11Minor allele frequency- T:0.50NA 2
    rs25970461,2
    C,--45848146(+) CTGTTC/GGAGTC 2 -- us2k1 int12Minor allele frequency- G:0.25NA 4
    rs123551531,2
    C--45848178(+) ATAAGG/AGTGGT 2 -- int1 us2k11Minor allele frequency- A:0.50NA 2
    rs779863441,2
    F--45848215(+) GATCTC/ATGTAG 2 -- int1 us2k11Minor allele frequency- A:0.50NA 4
    rs26104821,2
    C--45848294(-) AGATCG/AAGCCA 2 -- us2k1 int11Minor allele frequency- A:0.50NA 2
    rs28051141,2
    C,F--45848354(+) CTGAGT/AAGCTG 2 -- int1 us2k12Minor allele frequency- A:0.50NA 6
    rs26104811,2
    C--45848497(-) TCCAAC/TACTTT 2 -- int1 us2k11Minor allele frequency- T:0.50NA 2
    rs618567111,2
    C,F--45848621(+) TTCCAG/ATGTCA 1 -- int13Minor allele frequency- A:0.33NA 6

    HapMap Linkage Disequilibrium report for FAM21C (46222648 - 46288412 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 19 variations for FAM21C
         15/18 CNVs (see all 18): 9150 8652 48536 3798 75210 75207 34456 48538 48539 75211 65651 48537 8651 75209 6866
         1 Inversion: 37109

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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

    FAM21C for disorders           About GeneDecksing

    OMIM gene information: 613631    OMIM disorders: --

    3 diseases for FAM21C:    About MalaCards
    vaccinia    bronchiolitis    ataxia


    Export disorders for FAM21C 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 FAM21C gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with FAM21C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PubMed id 19922875)1, 2 Derivery E.... Gautreau A. (2009)
    2. A FAM21-containing WASH complex regulates retromer-de pendent sorting. (PubMed id 19922874)1, 2 Gomez T.S. and Billadeau D.D. (2009)
    3. A novel cellular protein, VPEF, facilitates vaccinia virus penetration into HeLa cells through fluid phase endocytosis. (PubMed id 18550675)1, 2 Huang C.Y....Chang W. (2008)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (1998)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Multiple repeat elements within the FAM21 tail link th e WASH actin regulatory complex to the retromer. (PubMed id 22513087)1 Jia D....Rosen M.K. (2012)
    10. Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35. (PubMed id 22070227)1 Harbour M.E....Seaman M.N. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 253725 HGNC: 23414 AceView: KIAA0592 Ensembl:ENSG00000172661 euGenes: HUgn253725
    ECgene: FAM21C H-InvDB: FAM21C

    (According to HUGE)
    About This Section
    HUGE: KIAA0592

    (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 FAM21C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for FAM21C gene:
    Search GeneIP for patents involving FAM21C

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