• Gene id: 81848

Gene Summary

• Gene Symbol: SPRY4   Gene   UCSC   Ensembl
• Aliases: HH17
• Gene name: sprouty RTK signaling antagonist 4
• Alternate names: protein sprouty homolog 4, sprouty homolog 4,
• Gene location: 5q31.3 (142325054: 142310426)     Exons: 5     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 607984

SNPs

rs6897876

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.142308074T>C
NC_000005.10   g.142308074T>G
NC_000005.9   g.141687639T>C
NC_000005.9   g.141687639T>G|SEQ=[T/C/G]

Protein Summary

• Protein general information: Q9C004  
  • Name: Protein sprouty homolog 4 (Spry 4)
  • Length: 299  
  • Mass: 32,541
• Sequence:

  MEPPIPQSAPLTPNSVMVQPLLDSRMSHSRLQHPLTILPIDQVKTSHVENDYIDNPSLALTTGPKRTRGGAPELA
  PTPARCDQDVTHHWISFSGRPSSVSSSSSTSSDQRLLDHMAPPPVADQASPRAVRIQPKVVHCQPLDLKGPAVPP
  ELDKHFLLCEACGKCKCKECASPRTLPSCWVCNQECLCSAQTLVNYGTCMCLVQGIFYHCTNEDDEGSCADHPCS
  CSRSNCCARWSFMGALSVVLPCLLCYLPATGCVKLAQRGYDRLRRPGCRCKHTNSVICKAASGDAKTSRPDKPF

• Structural information:
  • Protein Domains: SPR. (166-273)
  • Interpro: IPR007875  IPR030790  
  • Prosite: PS51227
  • PDB: 3BUN
  • PDBsum: 3BUN
  • STRING: ENSP00000344967
• Other Databases: GeneCards:  SPRY4  Malacards:  SPRY4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component

Diseases

Associated diseases	References
Cancer	GAD: 19483682
Cancer (testicular)	GAD: 19483681
Coronary heart disease	GAD: 21347282
Neurofibromatosis	GAD: 19443465
Schizophrenia	GAD: 18298822
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 23643382
Kallmann syndrome (KS)	MIK: 23643382
Hypogonadotropic hypogonadism	OMIM: 607984
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 23643382
Kallmann syndrome (KS)	MIK: 23643382
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 27561106

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23643382	Congenital hypogonadotropic hypogonadism (CHH), Kallmann syndrome (KS)			541 (386 unrelated CHH individuals, 155 controls)	Male infertility	FGF17 IL17RD DUSP6 SPRY4 and FLRT3
27561106	Cryptorchidism, Male infertility			15 (7 high fertility risk, 8 low fertility risk )	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq