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Aliases for SPRY4 Gene

Aliases for SPRY4 Gene

  • Sprouty RTK Signaling Antagonist 4 2 3 5
  • Sprouty Homolog 4 (Drosophila) 2
  • Protein Sprouty Homolog 4 3
  • Sprouty Homolog 4 3
  • Spry-4 4
  • HH17 3

External Ids for SPRY4 Gene

Previous GeneCards Identifiers for SPRY4 Gene

  • GC05P141577
  • GC05M141674
  • GC05M141718
  • GC05M141670
  • GC05M136836

Summaries for SPRY4 Gene

Entrez Gene Summary for SPRY4 Gene

  • This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for SPRY4 Gene

SPRY4 (Sprouty RTK Signaling Antagonist 4) is a Protein Coding gene. Diseases associated with SPRY4 include Hypogonadotropic Hypogonadism 17 With Or Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. An important paralog of this gene is SPRY1.

UniProtKB/Swiss-Prot for SPRY4 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPRY4 Gene

Genomics for SPRY4 Gene

Regulatory Elements for SPRY4 Gene

Enhancers for SPRY4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F142355 1.7 FANTOM5 Ensembl ENCODE 11.9 -34.2 -34173 9.9 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF766 CBX5 HDAC3 ARHGAP26 SPRY4 LOC101926941 PCDHGA6 PCDHGA7 RPL7P21 LINC01844 ENSG00000261757 GC05P142356
GH05F142471 1.6 FANTOM5 Ensembl ENCODE 10.2 -147.6 -147640 4.8 PKNOX1 ATF1 ARNT GLIS2 ELK1 FOS NCOA1 MEF2D SMARCA4 GLIS1 LOC101926941 SPRY4 GC05P142495 GC05P142406
GH05F142220 1.3 Ensembl ENCODE 10.6 +104.1 104055 4.0 ATF1 ARNT FEZF1 ZNF2 GLIS2 KLF7 FOS KLF13 SP3 JUNB SPRY4 LOC101926941 ENSG00000280047 ENSG00000277968
GH05F142293 1.2 Ensembl ENCODE 11.3 +30.8 30750 4.6 KLF17 FEZF1 RARA YY1 ZNF121 ZNF366 GATA2 EGR2 SMARCA5 ZNF263 LOC101926941 SPRY4 LOC729080 ENSG00000277968 ENSG00000280047
GH05F142425 1.2 FANTOM5 Ensembl ENCODE 10.7 -100.2 -100204 2.7 SCRT1 JUND POLR2A SCRT2 ADNP JUN NR2F2 LINC01844 SPRY4 LOC101926941 ENSG00000261757 GC05P142406 GC05P142495
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPRY4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPRY4 Gene

Chromosome:
5
Start:
142,310,427 bp from pter
End:
142,326,455 bp from pter
Size:
16,029 bases
Orientation:
Minus strand

Genomic View for SPRY4 Gene

Genes around SPRY4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRY4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRY4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRY4 Gene

Proteins for SPRY4 Gene

  • Protein details for SPRY4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C004-SPY4_HUMAN
    Recommended name:
    Protein sprouty homolog 4
    Protein Accession:
    Q9C004
    Secondary Accessions:
    • A4FVB2
    • A4FVB3
    • Q6QIX2
    • Q9C003

    Protein attributes for SPRY4 Gene

    Size:
    299 amino acids
    Molecular mass:
    32541 Da
    Quaternary structure:
    • Interacts with the C-terminus of TESK1. Interacts with RAF1.
    SequenceCaution:
    • Sequence=AAK00652.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPRY4 Gene

    Alternative splice isoforms for SPRY4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPRY4 Gene

Post-translational modifications for SPRY4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPRY4 Gene

No data available for DME Specific Peptides for SPRY4 Gene

Domains & Families for SPRY4 Gene

Protein Domains for SPRY4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SPRY4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C004

UniProtKB/Swiss-Prot:

SPY4_HUMAN :
  • The Cys-rich domain is responsible for the localization of the protein to the membrane ruffles.
  • Belongs to the sprouty family.
Domain:
  • The Cys-rich domain is responsible for the localization of the protein to the membrane ruffles.
  • Contains 1 SPR (sprouty) domain.
Family:
  • Belongs to the sprouty family.
genes like me logo Genes that share domains with SPRY4: view

No data available for Gene Families for SPRY4 Gene

Function for SPRY4 Gene

Molecular function for SPRY4 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SPRY4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12027893
genes like me logo Genes that share ontologies with SPRY4: view
genes like me logo Genes that share phenotypes with SPRY4: view

Human Phenotype Ontology for SPRY4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPRY4 Gene

MGI Knock Outs for SPRY4:

Animal Model Products

miRNA for SPRY4 Gene

miRTarBase miRNAs that target SPRY4

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPRY4 Gene

Localization for SPRY4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRY4 Gene

Cytoplasm. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPRY4 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 2
golgi apparatus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPRY4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPRY4: view

Pathways & Interactions for SPRY4 Gene

SuperPathways for SPRY4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPRY4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0009966 regulation of signal transduction IEA --
GO:0043407 negative regulation of MAP kinase activity IEA --
GO:0070373 negative regulation of ERK1 and ERK2 cascade IEA --
genes like me logo Genes that share ontologies with SPRY4: view

No data available for Pathways by source and SIGNOR curated interactions for SPRY4 Gene

Drugs & Compounds for SPRY4 Gene

(1) Drugs for SPRY4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SPRY4: view

Transcripts for SPRY4 Gene

Unigene Clusters for SPRY4 Gene

Sprouty homolog 4 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPRY4 Gene

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

Relevant External Links for SPRY4 Gene

GeneLoc Exon Structure for
SPRY4
ECgene alternative splicing isoforms for
SPRY4

Expression for SPRY4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPRY4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPRY4 Gene

This gene is overexpressed in Breast (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPRY4 Gene



Protein tissue co-expression partners for SPRY4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPRY4 Gene:

SPRY4

SOURCE GeneReport for Unigene cluster for SPRY4 Gene:

Hs.323308
genes like me logo Genes that share expression patterns with SPRY4: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPRY4 Gene

Orthologs for SPRY4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPRY4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPRY4 34 35
  • 98.86 (n)
cow
(Bos Taurus)
Mammalia SPRY4 34 35
  • 91.08 (n)
dog
(Canis familiaris)
Mammalia SPRY4 34 35
  • 90.9 (n)
rat
(Rattus norvegicus)
Mammalia Spry4 34
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Spry4 34 16 35
  • 88.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SPRY4 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPRY4 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858637 34
  • 78.11 (n)
SPRY4 35 35
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SPRY4 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spry4 34
  • 70.73 (n)
zebrafish
(Danio rerio)
Actinopterygii spry4 34 35
  • 65.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta sty 35
  • 14 (a)
OneToMany
Species where no ortholog for SPRY4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPRY4 Gene

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

Paralogs for SPRY4 Gene

Paralogs for SPRY4 Gene

(3) SIMAP similar genes for SPRY4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SPRY4: view

Variants for SPRY4 Gene

Sequence variations from dbSNP and Humsavar for SPRY4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs139512218 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266], other 142,314,456(+) CGCAG(G/T)AGCCC reference, missense
rs142439525 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] 142,314,268(+) GATGA(C/T)GCTGT reference, missense
rs148983803 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] 142,314,552(+) ACAGG(C/T)ACTCC reference, missense
rs200364529 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] 142,314,337(+) CTTCA(C/T)GCAGC reference, missense
rs568363732 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] 142,314,865(+) CTGGT(C/T)ACAGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPRY4 Gene

Variant ID Type Subtype PubMed ID
nsv830509 CNV gain 17160897

Variation tolerance for SPRY4 Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPRY4 Gene

Human Gene Mutation Database (HGMD)
SPRY4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRY4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRY4 Gene

Disorders for SPRY4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SPRY4 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 17 with or without anosmia
  • hh17
normosmic congenital hypogonadotropic hypogonadism
  • gonadotropic deficiency
kallmann syndrome
  • familial hypogonadism with anosmia
hypogonadism
testicular germ cell tumor
  • male germ cell tumor, somatic
- elite association - COSMIC cancer census association via MalaCards
Search SPRY4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPY4_HUMAN
  • 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). {ECO:0000269 PubMed:23643382}. 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). {ECO:0000269 PubMed:23643382}.

Relevant External Links for SPRY4

Genetic Association Database (GAD)
SPRY4
Human Genome Epidemiology (HuGE) Navigator
SPRY4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPRY4
genes like me logo Genes that share disorders with SPRY4: view

No data available for Genatlas for SPRY4 Gene

Publications for SPRY4 Gene

  1. Genomic structure and promoter characterization of the human Sprouty4 gene, a novel regulator of lung morphogenesis. (PMID: 14977631) Ding W. … Warburton D. (Am. J. Physiol. 2004) 3 4 22 64
  2. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. (PMID: 23643382) Miraoui H. … Pitteloud N. (Am. J. Hum. Genet. 2013) 3 4 64
  3. A genome-wide association study of testicular germ cell tumor. (PMID: 19483681) Rapley E.A. … Stratton M.R. (Nat. Genet. 2009) 3 46 64
  4. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. (PMID: 19483682) Kanetsky P.A. … Nathanson K.L. (Nat. Genet. 2009) 3 46 64
  5. Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping. (PMID: 18298822) Zaharieva I. … Toncheva D. (BMC Psychiatry 2008) 3 46 64

Products for SPRY4 Gene

Sources for SPRY4 Gene

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