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SPRY4 Gene

protein-coding   GIFtS: 64
GCID: GC05M141670

Sprouty Homolog 4 (Drosophila)

  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
Sprouty Homolog 4 (Drosophila)1 2
HH172 5
Protein Sprouty Homolog 42
spry-42
Spry-43

External Ids:    HGNC: 155331   Entrez Gene: 818482   Ensembl: ENSG000001876787   OMIM: 6079845   UniProtKB: Q9C0043   

Export aliases for SPRY4 gene to outside databases

Previous GC identifers: GC05P141577 GC05M142272 GC05M141674 GC05M141718 GC05M136836


(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 SPRY4 Gene:
SPRY4 is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. It is
positioned upstream of RAS (see HRAS; MIM 190020) activation and impairs the formation of active GTP-RAS (Leeksma
et al., 2002 (PubMed 12027893)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SPRY4 Gene:
SPRY4 (sprouty homolog 4 (Drosophila)) is a protein-coding gene. Diseases associated with SPRY4 include hypogonadotropic hypogonadism 17 with or without anosmia, and hypogonadotropic hypogonadism 8 with or without anosmia. An important paralog of this gene is SPRY3.

UniProtKB/Swiss-Prot: SPY4_HUMAN, Q9C004
Function: Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK
activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits
Ras-independent, but not Ras-dependent, activation of RAF1

Gene Wiki entry for SPRY4 Gene


(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_000005.10  NT_029289.12  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPRY4 gene promoter:
         Sox5   GCNF   CUTL1   PPAR-gamma1   POU2F1   POU2F1a   GCNF-1   STAT3   PPAR-gamma2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPRY4 promoter sequence
   Search Chromatin IP Primers for SPRY4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPRY4


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

Entrez Gene cytogenetic band: 5q31.3   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31.3

SPRY4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRY4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M141670:  view genomic region     (about GC identifiers)

Start:
141,689,992 bp from pter      End:
141,706,020 bp from pter
Size:
16,029 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPY4_HUMAN, Q9C004 (See protein sequence)
Recommended Name: Protein sprouty homolog 4  
Size: 299 amino acids; 32541 Da
Subunit: Interacts with the C-terminus of TESK1. Interacts with RAF1
Sequence caution: Sequence=AAK00652.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SPRY4:
3BUN (3D)    
Secondary accessions: A4FVB2 A4FVB3 Q6QIX2 Q9C003
Alternative splicing: 2 isoforms:  Q9C004-1   Q9C004-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPRY4: NX_Q9C004

Explore proteomics data for SPRY4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPRY4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120968.1  NP_112226.2  

    ENSEMBL proteins: 
     ENSP00000344967   ENSP00000399468   ENSP00000424411  

    SPRY4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SPRY4
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    Novus Biologicals SPRY4 Proteins
    Novus Biologicals SPRY4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPRY4

    SPRY4 Antibody Products:

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    SPRY4 Assay Products:

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    Cloud-Clone Corp. CLIAs for SPRY4


    (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:
     IPR007875 Sprouty

    Graphical View of Domain Structure for InterPro Entry Q9C004

    ProtoNet protein and cluster: Q9C004

    1 Blocks protein domain: IPB007875 Sprouty

    UniProtKB/Swiss-Prot: SPY4_HUMAN, Q9C004
    Domain: The Cys-rich domain is responsible for the localization of the protein to the membrane ruffles
    Similarity: Belongs to the sprouty family
    Similarity: Contains 1 SPR (sprouty) domain


    SPRY4 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPY4_HUMAN, Q9C004
    Function: Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK
    activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits
    Ras-independent, but not Ras-dependent, activation of RAF1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12027893
         
    SPRY4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPRY4:
     Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Spry4):
     craniofacial  growth/size/body  limbs/digits/tail  mortality/aging  nervous system 
     no phenotypic analysis  respiratory system  skeleton  vision/eye 

    SPRY4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SPRY4: Spry4tm1.2Mrt Spry4tm1Ayos

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPRY4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPRY4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPRY4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPRY4

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPRY4:
    hsa-mir-215-5p (MIRT024708), hsa-mir-335-5p (MIRT017540), hsa-mir-192-5p (MIRT026417)

    Block miRNA regulation of human, mouse, rat SPRY4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPRY4 (see all 90):
    hsa-miR-140-5p hsa-miR-300 hsa-miR-411 hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-138-2* hsa-miR-519a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPRY4
    Predesigned siRNA for gene silencing in human, mouse, rat SPRY4

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SPRY4 (see all 12)
    OriGene ORF clones in mouse, rat for SPRY4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPRY4 (NM_030964)
    Sino Biological Human cDNA Clone for SPRY4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPRY4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPRY4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SPRY4 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRY4


    (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
    SPY4_HUMAN, Q9C004: Cytoplasm. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side
    (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0016020membrane ----
    GO:0032587ruffle membrane IEA--

    SPRY4 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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    SuperPaths for SPRY4 About    
    See pathways by source

    SuperPathContained pathways About
    1Jak-STAT signaling pathway
    Jak-STAT signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for SPRY4):
        Jak-STAT signaling pathway


    SPRY4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPRY4
    Interactions:

        GeneGlobe Interaction Network for SPRY4

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

    Selected Interacting proteins for SPRY4 (Q9C0041, 2, 3 ENSP000003449674) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBLP226811, 2, 3, ENSP000002640334EBI-354861,EBI-518228 MINT-6539615 MINT-6539242 MINT-6539271 MINT-6539257 MINT-6539196 MINT-6539182 MINT-6538940 MINT-6539167 MINT-6538999 I2D: score=2 STRING: ENSP00000264033
    TESK1Q155691, 3, ENSP000003381274EBI-354861,EBI-354852 I2D: score=3 STRING: ENSP00000338127
    RAF1P040493, ENSP000002518494I2D: score=3 STRING: ENSP00000251849
    SIAH2O432553, ENSP000003224574I2D: score=1 STRING: ENSP00000322457
    SPRY2O435973I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0009966regulation of signal transduction ----
    GO:0043407negative regulation of MAP kinase activity IEA--

    SPRY4 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 SPRY4 (SPY4)

    1 HMDB Compound for SPRY4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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 SPRY4 gene (2 alternative transcripts): 
    NM_001127496.1  NM_030964.3  

    Unigene Cluster for SPRY4:

    Sprouty homolog 4 (Drosophila)
    Hs.323308  [show with all ESTs]
    Unigene Representative Sequence: AK226147
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344120(uc010jgi.1 uc003lml.2) ENST00000434127 ENST00000511815
    ENST00000503582 ENST00000509364
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPRY4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPRY4 (see all 90):
    hsa-miR-140-5p hsa-miR-300 hsa-miR-411 hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-138-2* hsa-miR-519a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SPRY4
    Predesigned siRNA for gene silencing in human, mouse, rat SPRY4
    Clone
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    OriGene clones in human, mouse for SPRY4 (see all 12)
    OriGene ORF clones in mouse, rat for SPRY4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPRY4 (NM_030964)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPRY4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPRY4
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPRY4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPRY4
      QuantiTect SYBR Green Assays in human, mouse, rat SPRY4
      QuantiFast Probe-based Assays in human, mouse, rat SPRY4

    Additional mRNA sequence: 

    AF227516.1 AF251060.1 AK096464.1 AK226147.1 BC125095.1 BC125096.1 BC141945.1 

    4 DOTS entries:

    DT.91979599  DT.100774002  DT.95189209  DT.40232222 

    Selected AceView cDNA sequences (see all 101):

    W48843 AA327851 BF589430 AI951419 CR605362 BQ227264 AF251060 BF477472 
    AA292057 BU682128 BX101620 CB997273 AI560811 AL704491 AF227516 AI683184 
    BQ006242 BX438994 NM_030964 F06813 Z39878 BM667655 BQ677112 BG576291 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SPRY4    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d
    SP1:              -     -           -                           
    SP2:                                                            
    SP3:              -     -     -     -                           
    SP4:                          -     -                           


    ECgene alternative splicing isoforms for SPRY4

    (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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    SPRY4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACAAACAG
    SPRY4 Expression
    About this image


    SPRY4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Distal Mesodermal Progenitor Cells Lung Mesoderm
             Lung Mesoderm
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Inner Enamel Epithelial Cells Dental Enamel
     
     Epithelial Cells
             Inner Enamel Epithelial Cells Dental Enamel
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    SPRY4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPRY4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.323308
        Custom PCR Arrays for SPRY4
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SPRY4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPRY4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRY4

    (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 animals.

    Orthologs for SPRY4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spry41 , 5 sprouty homolog 4 (Drosophila)1, 5 88.63(n)1
    92.98(a)1
      18 (20.50 cM)5
    240661  NM_011898.21  NP_036028.21 
     385862685 
    chicken
    (Gallus gallus)
    Aves LOC1008586371 protein sprouty homolog 4-like 78.11(n)
    76.77(a)
      100858637  XM_004945037.1  XP_004945094.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPRY46
    sprouty homolog 4 (Drosophila)
    73(a)
    1 ↔ 1
    2(126932490-126933392)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420086092   -- 93.15(n)    142008609 
    zebrafish
    (Danio rerio)
    Actinopterygii spry42 sprouty (Drosophila) homolog 4 76.97(n)   114437  AF371368.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sty6
    sprouty
    14(a)
    1 → many
    3L(3401137-3424935)


    ENSEMBL Gene Tree for SPRY4 (if available)
    TreeFam Gene Tree for SPRY4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPRY4 gene
    SPRY32  SPRY12  SPRY22  
    3 SIMAP similar genes for SPRY4 using alignment to 2 protein entries:     SPY4_HUMAN (see all proteins):
    SPRY3    SPRY1    SPRY2

    SPRY4 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 SPRY4 (see all 417)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424395251,2,,4
    C,FHypogonadotropic hypogonadism 17 with or without anosmia (HH17)4 --141693833(+) GATGAC/TGCTGT 4 I V mis11Minor allele frequency- T:0.01NA 4530
    rs2003645291,2,,4
    CHypogonadotropic hypogonadism 17 with or without anosmia (HH17)4 --141693902(+) CTTCAC/TGCAGC 4 M V mis11Minor allele frequency- T:0.00EU 1073
    rs1395122181,2,,4
    C,FHypogonadotropic hypogonadism 17 with or without anosmia (HH17)4 --141694021(+) CGCAGG/TAGCCC 4 Y S mis12Minor allele frequency- T:0.00NA EU 5685
    rs1489838031,2,,4
    C,FHypogonadotropic hypogonadism 17 with or without anosmia (HH17)4 --141694117(+) ACAGGC/TACTCC 4 Y C mis12Minor allele frequency- T:0.00NA EU 5865
    rs783109591,2,,4
    C,FHypogonadotropic hypogonadism 17 with or without anosmia (HH17)4 --141694213(-) GGACAA/GGCACT 4 K R mis12Minor allele frequency- G:0.00NA EU 5773
    VAR_0699294
    Hypogonadotropic hypogonadism 17 with or without anosmia (HH17)4--see VAR_0699292 T M mis40--------
    VAR_0699304
    Hypogonadotropic hypogonadism 17 with or without anosmia (HH17)4--see VAR_0699302 D N mis40--------
    rs1863115091,2
    C--141689521(+) CTTTCA/GAGGCT 2 -- ds50010--------
    rs1486168841,2
    C--141689546(+) TGTGCA/GATATG 2 -- ds50010--------
    rs1165957461,2
    F--141689630(+) TTCATG/ATGTGT 2 -- ds50011Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for SPRY4 (141689992 - 141706020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPRY4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830509CNV Gain17160897

    Human Gene Mutation Database (HGMD): SPRY4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPRY4
    DNA2.0 Custom Variant and Variant Library Synthesis for SPRY4

    (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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    OMIM gene information: 607984   
    OMIM disorders: 615266  
    UniProtKB/Swiss-Prot: SPY4_HUMAN, Q9C004
  • Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations
    in SPRY4 also have a heterozygous mutation in another HH-associated gene including DUSP6 and FGFR1
    (PubMed:23643382)

  • 18 diseases for SPRY4:    
    About MalaCards
    hypogonadotropic hypogonadism 17 with or without anosmia    hypogonadotropic hypogonadism 8 with or without anosmia    legius syndrome    germ cell cancer
    testicular germ cell tumor    testicular cancer    germ cell tumors    neurofibromatosis
    tonsillitis    coronary heart disease    schizophrenia    inflammatory bowel disease
    lung cancer    prostatitis    prostate cancer    cervicitis
    thyroiditis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for SPRY4:
    Testicular cancer

    SPRY4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPRY4
    Human Genome Epidemiology (HuGE) Navigator: SPRY4 (3 documents)

    Export disorders for SPRY4 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 SPRY4 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with SPRY4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and promoter characterization of the human Sprouty4 gene, a novel regulator of lung morphogenesis. (PubMed id 14977631)1, 2, 9 Ding W.... Warburton D. (Am. J. Physiol. 2004)
    2. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. (PubMed id 19483682)1, 4 Kanetsky P.A....Nathanson K.L. (Nat. Genet. 2009)
    3. A genome-wide association study of testicular germ cell tumor. (PubMed id 19483681)1, 4 Rapley E.A....Stratton M.R. (Nat. Genet. 2009)
    4. Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping. (PubMed id 18298822)1, 4 Zaharieva I....Toncheva D. (BMC Psychiatry 2008)
    5. FGF signaling inhibitor, SPRY4, is evolutionarily conserved target of WNT signaling pathway in progenitor cells. (PubMed id 16465403)1, 3 Katoh Y. and Katoh M. (Int. J. Mol. Med. 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Mammalian Sprouty4 suppresses Ras-independent ERK activation by binding to Raf1. (PubMed id 12717443)1, 2 Sasaki A.... Yoshimura A. (Nat. Cell Biol. 2003)
    8. Human sprouty 4, a new ras antagonist on 5q31, interacts with the dual specificity kinase TESK1. (PubMed id 12027893)1, 2 Leeksma O.C.... de Vries C.J.M. (Eur. J. Biochem. 2002)
    9. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. (PubMed id 23643382)2 Miraoui H....Pitteloud N. (Am. J. Hum. Genet. 2013)
    10. Meta-analysis identifies four new loci associated with testicular germ cell tumor. (PubMed id 23666239)1 Chung C.C....Nathanson K.L. (Nat. Genet. 2013)

    (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: 81848 HGNC: 15533 AceView: SPRY4 Ensembl:ENSG00000187678 euGenes: HUgn81848
    ECgene: SPRY4 Kegg: 81848 H-InvDB: SPRY4

    (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 SPRY4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SPRY4 gene:
    Search GeneIP for patents involving SPRY4

    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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