Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
607984 15533 ENSG00000187678
Protein Protein information from UniProt database.
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
LSVVLPCLLCYLPATGCVKLAQRGYDRLRRPGCRCK
HTNSVICKAASGDAKTSRPDKPF
Sequence length 299
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
33
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypogonadotropic hypogonadism 17 with or without anosmia Pathogenic rs587776981 RCV000043617
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amenorrhea Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 25822087
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 25822087
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28881629
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 31645544
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 31374860
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 31374860 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30365052
★★☆☆☆
Found in Text Mining + Unknown/Other Associations