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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPRY4
sprouty RTK signaling antagonist 4
Chromosome 5 · 5q31.3
NCBI Gene: 81848Ensembl: ENSG00000187678.10HGNC: HGNC:15533UniProt: A0A0C4DFS6
100PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase inhibitor activityprotein bindingnegative regulation of substrate adhesion-dependent cell spreadingcytoplasmKallmann syndromeneurodegenerative diseasehypogonadotropic hypogonadismtesticular carcinoma
✦AI Summary

SPRY4 (sprouty RTK signaling antagonist 4) is a negative regulator of receptor tyrosine kinase signaling. The protein suppresses insulin receptor and EGFR-transduced MAPK signaling by impairing GTP-Ras formation 1, and inhibits Ras-independent RAF1 activation 2. Additionally, SPRY4 represses integrin-mediated cell spreading through inhibition of TESK1-mediated cofilin phosphorylation 3. Clinically, SPRY4 mutations are associated with congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome, where 14 individuals among 386 CHH patients carried mutations, implicating SPRY4 in the FGF signaling pathway critical for reproductive axis development 4. Notably, a heterozygous SPRY4 variant (p.Arg53Trp) was identified in infertile women, causing reduced oocyte potential and early embryonic arrest through disruption of oocyte redox homeostasis and mitochondrial function 5. In cancer biology, SPRY4 demonstrates context-dependent roles. In testicular germ cell tumors, elevated SPRY4 and its intronic transcript SPRY4-IT1 function as oncogenes, promoting cell growth via PI3K/Akt pathway activation 6. Conversely, the SPRY4-derived lncRNA SPRY4-IT1 consistently acts as an oncogenic biomarker across multiple cancer types, with high expression correlating with poor overall survival 78. Recent evidence demonstrates SPRY4 delivered via adipogenic BMSC exosomes impairs angiogenesis in steroid-induced osteonecrosis by suppressing the PTPRB/TIE2/PI3K axis 9.

Sources cited
1
The protein suppresses insulin receptor and EGFR-transduced MAPK signaling by impairing GTP-Ras formation , and inhibits Ras-independent RAF1 activation .
PMID: 12027893
2
The protein suppresses insulin receptor and EGFR-transduced MAPK signaling by impairing GTP-Ras formation , and inhibits Ras-independent RAF1 activation .
PMID: 12717443
3
Additionally, SPRY4 represses integrin-mediated cell spreading through inhibition of TESK1-mediated cofilin phosphorylation .
PMID: 15584898
4
Clinically, SPRY4 mutations are associated with congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome, where 14 individuals among 386 CHH patients carried mutations, implicating SPRY4 in the FGF signaling pathway critical for reproductive axis development .
PMID: 23643382
5
Notably, a heterozygous SPRY4 variant (p.Arg53Trp) was identified in infertile women, causing reduced oocyte potential and early embryonic arrest through disruption of oocyte redox homeostasis and mitochondrial function .
PMID: 39348320
6
In testicular germ cell tumors, elevated SPRY4 and its intronic transcript SPRY4-IT1 function as oncogenes, promoting cell growth via PI3K/Akt pathway activation .
PMID: 29410498
7
Recent evidence demonstrates SPRY4 delivered via adipogenic BMSC exosomes impairs angiogenesis in steroid-induced osteonecrosis by suppressing the PTPRB/TIE2/PI3K axis .
PMID: 40660390
Disease Associationsⓘ21
Kallmann syndromeOpen Targets
0.75Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
hypogonadotropic hypogonadismOpen Targets
0.44Moderate
testicular carcinomaOpen Targets
0.43Moderate
insomniaOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.40Moderate
osteoarthritis, handOpen Targets
0.32Weak
cancerOpen Targets
0.31Weak
testicular neoplasmOpen Targets
0.30Weak
ankylosing spondylitisOpen Targets
0.29Weak
osteoarthritis, kneeOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.27Weak
hyperpituitarismOpen Targets
0.26Weak
Testicular Germ Cell TumorOpen Targets
0.26Weak
ovarian neoplasmOpen Targets
0.23Weak
testicular seminomaOpen Targets
0.22Weak
Abruptio PlacentaeOpen Targets
0.22Weak
total knee arthroplastyOpen Targets
0.22Weak
osteoarthritisOpen Targets
0.20Weak
Hypogonadotropic hypogonadism 17 with or without anosmiaUniProt
Pathogenic Variants1
NM_001127496.3(SPRY4):c.46G>A (p.Val16Ile)Pathogenic
Hypogonadotropic hypogonadism 17 with or without anosmia
☆☆☆☆2013→ Residue 16
View on ClinVar ↗
Related Genes
TESK1Protein interaction88%RAF1Protein interaction79%DUSP6Protein interaction75%SPRY3Shared pathway71%IL17RDProtein interaction68%SPRY1Shared pathway56%
Tissue Expression6 tissues
Lung
100%
Liver
72%
Heart
72%
Brain
13%
Ovary
11%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
SPRY4TESK1RAF1DUSP6SPRY3IL17RDSPRY1
PROTEIN STRUCTURE
Preparing viewer…
PDB3BUN · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.44Tolerant
Observed/Expected LoF0.39 [0.22–0.72]
RankingsWhere SPRY4 stands among ~20K protein-coding genes
  • #4,816of 20,598
    Most Researched100 · top quartile
  • #4,889of 5,498
    Most Pathogenic Variants1
  • #5,603of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedSPRY4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
PMID: 23643382
Am J Hum Genet · 2013
1.00
2
Prognostic Value of Long Noncoding RNA SPRY4-IT1 on Survival Outcomes in Human Carcinomas: A Systematic Review and Meta-Analysis with TCGA Database.
PMID: 33204703
Biomed Res Int · 2020
0.90
3
Prognostic role of SPRY4-IT1 in female breast carcinoma and malignant tumors of the reproductive system: A meta-analysis.
PMID: 35482980
Medicine (Baltimore) · 2022
0.80
4
The long non-coding RNA SPRY4-IT1: An emerging player in tumorigenesis and osteosarcoma.
PMID: 29484753
Cell Prolif · 2018
0.70
5
Knockdown of SPRY4 and SPRY4-IT1 inhibits cell growth and phosphorylation of Akt in human testicular germ cell tumours.
PMID: 29410498
Sci Rep · 2018
0.60