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FSIP2 Gene

protein-coding   GIFtS: 40
GCID: GC02P186603

Fibrous Sheath Interacting Protein 2

  See 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
Fibrous Sheath Interacting Protein 21 2
Fibrous Sheath-Interacting Protein 22

External Ids:    HGNC: 216751   Entrez Gene: 4010242   Ensembl: ENSG000001887387   UniProtKB: Q5CZC03   

Export aliases for FSIP2 gene to outside databases

Previous GC identifers: GC02P186813 GC02P186435 GC02P186318 GC02U901571 GC02P178463


(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 FSIP2 Gene:
FSIP2 (fibrous sheath interacting protein 2) is a protein-coding gene. Diseases associated with FSIP2 include alcohol dependence.


(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_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FSIP2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFSIP2 promoter sequence
   Search Chromatin IP Primers for FSIP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FSIP2


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

Entrez Gene cytogenetic band: 2q32.1   Ensembl cytogenetic band:  2q32.1   HGNC cytogenetic band: 2q32.1

FSIP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FSIP2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P186603:  view genomic region     (about GC identifiers)

Start:
186,603,355 bp from pter      End:
186,698,017 bp from pter
Size:
94,663 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, 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: FSIP2_HUMAN, Q5CZC0 (See protein sequence)
Recommended Name: Fibrous sheath-interacting protein 2  
Size: 6907 amino acids; 780607 Da
Sequence caution: Sequence=AAY14863.1; Type=Erroneous gene model prediction; Sequence=AK126051; Type=Frameshift;
Positions=6474; Sequence=CAI46017.1; Type=Frameshift; Positions=Several; Sequence=CAI46017.1; Type=Miscellaneous
discrepancy; Note=Aberrant splicing;
Secondary accessions: Q53TL3 Q53TN5 Q5HYH2 Q6ZTZ5 Q6ZU14 Q6ZU21
Alternative splicing: 2 isoforms:  Q5CZC0-1   Q5CZC0-2   

Explore the universe of human proteins at neXtProt for FSIP2: NX_Q5CZC0

Explore proteomics data for FSIP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FSIP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775922.2  
    ENSEMBL proteins: 
     ENSP00000401306   ENSP00000395888   ENSP00000390251   ENSP00000344403   ENSP00000439530  

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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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    ProtoNet protein and cluster: Q5CZC0


    (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 ----
         
    FSIP2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FSIP2
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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
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0019013viral nucleocapsid ----
    GO:0030529ribonucleoprotein complex ----

    FSIP2 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 FSIP2
    Interactions:

        Search GeneGlobe Interaction Network for FSIP2

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

    1 Interacting protein for FSIP2 (ENSP000004013064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKAP4ENSP000003513274STRING: ENSP00000351327
    About this table

    (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 FSIP2



    (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 FSIP2 gene (2 alternative transcripts): 
    NM_207482.2  NM_173651.2  

    Unigene Cluster for FSIP2:

    Fibrous sheath interacting protein 2
    Hs.98025  [show with all ESTs]
    Unigene Representative Sequence: NM_173651
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424728(uc002upj.2 uc010frr.2 uc002upm.3) ENST00000465275
    ENST00000469367 ENST00000429412 ENST00000415915 ENST00000343098(uc002upl.3)
    ENST00000546113
    miRNA
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    Additional mRNA sequence: 

    AK126036.1 AK126051.1 AK126089.1 AK126104.1 BC121088.1 BC121089.1 BC128052.1 BC148281.2 
    BX647691.1 BX648733.1 BX648920.1 CR936597.1 

    9 DOTS entries:

    DT.91637796  DT.120945392  DT.40119235  DT.120945391  DT.120945374  DT.99949441  DT.120945372  DT.95247932 
    DT.91741429 

    17 AceView cDNA sequences:

    BX116764 BX647691 NM_207482 AI150340 AK126051 AK126089 BX648920 AI090871 
    AK126104 AK126036 AW273851 BX648733 AI084545 AI187952 BU561269 AA406161 
    AL704139 

    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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    FSIP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATTGCTT
    FSIP2 Expression
    About this image

    FSIP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FSIP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98025
        Custom PCR Arrays for FSIP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FSIP2

    (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 FSIP2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fsip21 , 5 fibrous sheath-interacting protein 21, 5 75.26(n)1
    61.64(a)1
      2 (49.08 cM)5
    2415161  XM_006500496.11  XP_006500559.11 
     829436345 
    lizard
    (Anolis carolinensis)
    Reptilia FSIP26
    fibrous sheath interacting protein 2
    26(a)
    1 ↔ 1
    GL344376.1(9736-13389)


    ENSEMBL Gene Tree for FSIP2 (if available)
    TreeFam Gene Tree for FSIP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FSIP2 gene

    FSIP2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FSIP2
    PGOHUM00000239589 PGOHUM00000241540


    (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 FSIP2 (see all 1689)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs593313281,2
    C--178545766(+) AAAAA-/AA/AAA
            
    TCAAC
    1 -- int11NA 2
    rs1876126261,2
    --186601545(+) GCTGTA/GAGAGG 1 -- us2k10--------
    rs1504839371,2
    --186601577(+) ATGTCC/TATGTC 1 -- us2k10--------
    rs1453199431,2
    --186601698(+) ATAACA/CTAGAT 1 -- us2k10--------
    rs790629941,2
    F--186601768(+) TCAGAG/CAGAGG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1491954001,2
    --186601896(+) ATACAA/CTGGTT 1 -- us2k10--------
    rs1161540651,2
    F--186601980(+) CACTAA/GGTTTG 1 -- us2k11Minor allele frequency- G:0.02WA 118
    rs18618961,2
    C,F,O,A,H--186602051(-) TCAGCG/ACAAAG 1 -- us2k128Minor allele frequency- A:0.35NS EA NA WA CSA 2578
    rs1918920311,2
    --186602060(+) GAGGGC/TAGTTG 1 -- us2k10--------
    rs1169613521,2
    C,F--186602122(+) TGATAC/TAAGAT 1 -- us2k11Minor allele frequency- T:0.02EA 120

    HapMap Linkage Disequilibrium report for FSIP2 (186603355 - 186698017 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FSIP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721236CNV Deletion23290073
    nsv875545CNV Loss21882294

    Site Specific Mutation Identification with 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.)
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    1 disease for FSIP2:    About MalaCards
    alcohol dependence

    1 disease from the University of Copenhagen DISEASES database for FSIP2:
    Alcohol dependence

    FSIP2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: FSIP2 (0 documents)

    Export disorders for FSIP2 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 FSIP2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FSIP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum. (PubMed id 12606363)1 Brown P.R....Eddy E.M. (Biol. Reprod. 2003)
    8. 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)
    9. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (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: 401024 HGNC: 21675 AceView: FLJ44048 Ensembl:ENSG00000188738 euGenes: HUgn401024
    ECgene: FSIP2 H-InvDB: FSIP2

    (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 FSIP2 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 FSIP2 gene:
    Search GeneIP for patents involving FSIP2

    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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