SPRY4 (sprouty RTK signaling antagonist 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 81848
Gene name Sprouty RTK signaling antagonist 4
Gene symbol SPRY4
Synonyms (NCBI Gene)
HH17
Chromosome 5
Chromosome location 5q31.3
Summary 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 acti
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs78310959 T>C Pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs139512218 G>A,T Likely-benign, risk-factor, uncertain-significance Coding sequence variant, missense variant
rs142439525 C>T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant
rs587776981 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1010
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1010)
miRTarBase ID miRNA Experiments Reference
MIRT017540 hsa-miR-335-5p Microarray 18185580
MIRT024708 hsa-miR-215-5p Microarray 19074876
MIRT026417 hsa-miR-192-5p Microarray 19074876
MIRT622110 hsa-miR-6768-5p HITS-CLIP 21572407
MIRT607178 hsa-miR-223-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0004860 Function Protein kinase inhibitor activity IMP 15584898
GO:0005515 Function Protein binding IPI 12027893, 15584898, 18273061, 24705354, 28514442, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IDA 15584898
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607984 15533 ENSG00000187678
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C004
Protein name Protein sprouty homolog 4 (Spry-4)
Protein function Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras (PubMed:12027893). Probably impairs the formation of GTP-Ras (PubMed:12027893). Inhibits Ras-i
PDB 3BUN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05210 Sprouty 164 → 276 Sprouty protein (Spry) Family
Sequence 
MEPPIPQSAPLTPNSVMVQPLLDSRMSHSRLQHPLTILPIDQVKTSHVENDYIDNPSLAL
TTGPKRTRGGAPELAPTPARCDQDVTHHWISFSGRPSSVSSSSSTSSDQRLLDHMAPPPV
ADQASPRAVRIQPKVVHCQPLDLKGPAVPPELDKHFLLCEACGKCKCKECASPRTLPSCW
VCNQECLCSAQTLVNYGTCMCLVQGIFYHCTNEDDEGSCADHPCSCSRSNCCARWSFMGA
LSVVLPCLLCYLPATGCVKLAQRGYDRLRRPGCRCKHTNSVICKAASGDAKTSRPDKPF
Sequence length 299
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypogonadotropic hypogonadism 17 with or without anosmia Pathogenic rs587776981 RCV000043617
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Uncertain significance; Conflicting classifications of pathogenicity rs751651003, rs139512218 RCV001849748
RCV001849295
Disorder of sexual differentiation Uncertain significance rs1759048117 RCV001564032
Hypogonadotropic hypogonadism 7 with or without anosmia Uncertain significance rs141394327 RCV005392796
See cases Uncertain significance rs202113451 RCV004584448
Show/Hide Text Mining Associations (67)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Neoplasms Inhibit 31374860
Breast Neoplasms Associate 24402575, 25742952, 28651500, 29410498, 30104400, 36274054, 36376369
Carcinogenesis Associate 25742952, 27997895, 28720069, 29214989
Carcinoma Ductal Inhibit 34048471
Carcinoma Ductal Breast Associate 34048471
Carcinoma Hepatocellular Associate 28651500, 32733618
Carcinoma Hepatocellular Stimulate 29214989
Carcinoma Intraductal Noninfiltrating Associate 34048471
Carcinoma Non Small Cell Lung Associate 15705594, 25337221, 28275056, 28651500
Carcinoma Non Small Cell Lung Inhibit 20501643