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FSD2 Gene

protein-coding   GIFtS: 41
GCID: GC15M083424

Fibronectin Type III And SPRY Domain Containing 2

(Previous name: SPRY domain containing 1)
(Previous symbol: SPRYD1)
  Search for FSD2
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
Fibronectin Type III And SPRY Domain Containing 21 2
SPRYD11 2 3
SPRY Domain Containing 11 2
SPRY Domain-Containing Protein 12 3
Fibronectin Type III And SPRY Domain-Containing Protein 22
MFSD2A5

External Ids:    HGNC: 180241   Entrez Gene: 1237222   Ensembl: ENSG000001866287   OMIM: 6143975   UniProtKB: A1L4K13   

Export aliases for FSD2 gene to outside databases

Previous GC identifer: GC15M081222


(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 FSD2 Gene:
This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in
multiple transcript variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for FSD2 Gene:
FSD2 (fibronectin type III and SPRY domain containing 2) is a protein-coding gene. An important paralog of this gene is CMYA5.




(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 FSD2 gene promoter:
         RFX1   FOXF2   GCNF   MIF-1   YY1   GCNF-1   SEF-1 (1)   Meis-1a   GCNF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFSD2 promoter sequence
   Search Chromatin IP Primers for FSD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FSD2


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

Entrez Gene cytogenetic band: 15q25.2   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q25.2

FSD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FSD2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M083424:  view genomic region     (about GC identifiers)

Start:
83,424,114 bp from pter      End:
83,474,822 bp from pter
Size:
50,709 bases      Orientation:
minus 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FSD2_HUMAN, A1L4K1 (See protein sequence)
Recommended Name: Fibronectin type III and SPRY domain-containing protein 2  
Size: 749 amino acids; 85385 Da
Secondary accessions: B3KVG1

Explore the universe of human proteins at neXtProt for FSD2: NX_A1L4K1

Explore proteomics data for FSD2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FSD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001007123.1  NP_001268734.1  NP_001268735.1  

    ENSEMBL proteins: 
     ENSP00000335651   ENSP00000444078   ENSP00000453127  

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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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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing

    Selected InterPro protein domains (see all 6):
     IPR001870 B30.2/SPRY
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003879 Butyrophylin
     IPR003877 SPRY_rcpt

    Graphical View of Domain Structure for InterPro Entry A1L4K1

    ProtoNet protein and cluster: A1L4K1

    UniProtKB/Swiss-Prot: FSD2_HUMAN, A1L4K1
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 2 fibronectin type-III domains


    FSD2 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:0005515protein binding ----
         
    FSD2 for ontologies           About GeneDecksing


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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

    (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 FSD2
    Interactions:

        Search GeneGlobe Interaction Network for FSD2

    (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 FSD2



    (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,
    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 FSD2 gene (3 alternative transcripts): 
    NM_001007122.3  NM_001281805.1  NM_001281806.1  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334574(uc002bjd.2 uc010uol.1 uc010uom.1) ENST00000541889
    ENST00000561368
    miRNA
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    20 AceView cDNA sequences:

    BX094891 AI375128 AK122875 AI221164 AI205610 AA972178 AW183935 AI425086 
    F34462 AL833295 BF576055 AA824642 AW339890 C03376 F23318 AW978717 
    BU659119 AA247169 AA095967 C04480 

    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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    FSD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCCAGCAC
    FSD2 Expression
    About this image

    FSD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FSD2 Protein Expression
        Custom PCR Arrays for FSD2
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    In Situ
    Assay Products:
     

     
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    (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 FSD2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fsd21 , 5 fibronectin type III and SPRY domain containing 21, 5 83.38(n)1
    83.14(a)1
      7 (45.71 cM)5
    2440911  NM_172904.21  NP_766492.21 
     815343545 
    chicken
    (Gallus gallus)
    Aves FSD21 fibronectin type III and SPRY domain containing 2 64.11(n)
    57.16(a)
      427503  XM_425075.4  XP_425075.3 
    lizard
    (Anolis carolinensis)
    Reptilia FSD26
    fibronectin type III and SPRY domain containing 2
    55(a)
    1 ↔ 1
    AAWZ02039153(2554-9079)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fsd21 fibronectin type III and SPRY domain containing 2 59.02(n)
    52.03(a)
      100497548  XM_002939625.2  XP_002939671.2 
    zebrafish
    (Danio rerio)
    Actinopterygii FSD26
    fibronectin type III and SPRY domain containing 2
    44(a)
    1 ↔ 1
    18(13389-20363) ENSDARG00000086935


    ENSEMBL Gene Tree for FSD2 (if available)
    TreeFam Gene Tree for FSD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FSD2 gene
    CMYA52  
    1 SIMAP similar gene for FSD2 using alignment to 4 protein entries:     FSD2_HUMAN (see all proteins):
    MEFV

    FSD2 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), 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 FSD2 (see all 951)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80238731,2
    C,F,A,H--83427684(+) CCTCTC/TGCCTT 1 -- ds5001 ese325Minor allele frequency- T:0.20NS EA NA CSA WA 2904
    rs745696441,2
    F--83427818(+) TACACG/AAATAT 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1904101901,2
    --83427849(+) TTTTGA/TGTTCG 1 -- ds50010--------
    rs1179986501,2
    C,F--83427854(+) AGTTCG/ATTTAG 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1481357231,2
    --83427859(+) GTTTAA/GTCTGA 1 -- ds50010--------
    rs1501198301,2
    --83428043(+) AAGGCG/TTGAGC 1 -- ut310--------
    rs1387025461,2
    C--83428091(+) GACATC/TAGAAT 1 -- ut310--------
    rs2013931871,2
    C--83428126(+) TGGCAC/TTGAAA 2 M V mis10--------
    rs2020185851,2
    C--83428128(+) GCATTA/GAAATG 2 S L mis10--------
    rs1427018201,2
    C--83428175(+) GAAAAA/GCAGGG 2 C syn10--------

    HapMap Linkage Disequilibrium report for FSD2 (83424114 - 83474822 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FSD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674021CNV Deletion23128226
    esv34318CNV Loss17911159
    nsv817702CNV Loss17921354
    nsv471687CNV Gain15918152
    nsv469557CNV Complex16826518

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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.)
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    OMIM gene information: 614397    OMIM disorders: --


    FSD2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FSD2
    Human Genome Epidemiology (HuGE) Navigator: FSD2 (1 document)

    Export disorders for FSD2 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 FSD2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FSD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. (PubMed id 20966410)1, 4 Dong C....Sacco R.L. ( a journal of cerebral circulation 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. 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)
    4. 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)
    5. 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: 123722 HGNC: 18024 AceView: LOC123722 Ensembl:ENSG00000186628 euGenes: HUgn123722
    ECgene: FSD2 H-InvDB: FSD2

    (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 FSD2 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 FSD2 gene:
    Search GeneIP for patents involving FSD2

    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
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