SPRY4 sprouty RTK signaling antagonist 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRY4provided by HGNC
Official Full Name: sprouty RTK signaling antagonist 4provided by HGNC
Primary source: HGNC:HGNC:15533
See related: Ensembl:ENSG00000187678 MIM:607984; AllianceGenome:HGNC:15533
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HH17
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 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]
Expression: Broad expression in lung (RPKM 7.4), adrenal (RPKM 7.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (142310430..142325021, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (142841037..142855632, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (141689995..141704586, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PDK1-stabilized LncRNA SPRY4-IT1 promotes breast cancer progression via activating NF-kappaB signaling pathway.
Title: PDK1-stabilized LncRNA SPRY4-IT1 promotes breast cancer progression via activating NF-κB signaling pathway.
Sprouty4 is epigenetically upregulated in human colorectal cancer.
Title: Sprouty4 is epigenetically upregulated in human colorectal cancer.
Sprouty 4 suppresses glioblastoma invasion by inhibiting ERK phosphorylation and ETS-1-induced matrix metalloproteinase-9.
Title: Sprouty 4 suppresses glioblastoma invasion by inhibiting ERK phosphorylation and ETS-1-induced matrix metalloproteinase-9.
SPRY4 promotes adipogenic differentiation of human mesenchymal stem cells through the MEK-ERK1/2 signaling pathway.
Title: SPRY4 promotes adipogenic differentiation of human mesenchymal stem cells through the MEK-ERK1/2 signaling pathway.
Identification of SPRY4 as a Novel Candidate Susceptibility Gene for Familial Nonmedullary Thyroid Cancer.
Title: Identification of SPRY4 as a Novel Candidate Susceptibility Gene for Familial Nonmedullary Thyroid Cancer.
Coupling HDAC4 with transcriptional factor MEF2D abrogates SPRY4-mediated suppression of ERK activation and elicits hepatocellular carcinoma drug resistance.
Title: Coupling HDAC4 with transcriptional factor MEF2D abrogates SPRY4-mediated suppression of ERK activation and elicits hepatocellular carcinoma drug resistance.
Sprouty4 negatively regulates ERK/MAPK signaling and the transition from in situ to invasive breast ductal carcinoma.
Title: Sprouty4 negatively regulates ERK/MAPK signaling and the transition from in situ to invasive breast ductal carcinoma.
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
Title: Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
SPRY4 suppresses proliferation and induces apoptosis of colorectal cancer cells by repressing oncogene EZH2.
Title: SPRY4 suppresses proliferation and induces apoptosis of colorectal cancer cells by repressing oncogene EZH2.
SPRY4 regulates trophoblast proliferation and apoptosis via regulating IFN-gamma-induced STAT1 expression and activation in recurrent miscarriage.
Title: SPRY4 regulates trophoblast proliferation and apoptosis via regulating IFN-γ-induced STAT1 expression and activation in recurrent miscarriage.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 17 with or without anosmia MedGen: C3808971 OMIM: 615266 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies four new loci associated with testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1655E (e-PCR)
- UniSTS:52761

RH12495 (e-PCR)
- UniSTS:11084

AF005212 (e-PCR)
- UniSTS:80737

D5S2564 (e-PCR)
- UniSTS:13213

D5S178 (e-PCR)
- UniSTS:148181

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	HDA more info	PubMed
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein sprouty homolog 4

Names: sprouty homolog 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034148.1 RefSeqGene

Range

5035..19626

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127496.3 → NP_001120968.1 protein sprouty homolog 4 isoform 2

See identical proteins and their annotated locations for NP_001120968.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).

Source sequence(s)

AC091825, AK096464, AK226147, BP387943, T32786

Consensus CDS

CCDS47296.1

UniProtKB/Swiss-Prot

A4FVB2, A4FVB3, Q6QIX2, Q9C003, Q9C004

Related

ENSP00000399468.2, ENST00000434127.3

Conserved Domains (1) summary

pfam05210
Location:165 → 262

Sprouty; Sprouty protein (Spry)
NM_001293289.3 → NP_001280218.1 protein sprouty homolog 4 isoform 2

See identical proteins and their annotated locations for NP_001280218.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains multiple differences in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).

Source sequence(s)

AC091825

Consensus CDS

CCDS47296.1

UniProtKB/Swiss-Prot

A4FVB2, A4FVB3, Q6QIX2, Q9C003, Q9C004

Conserved Domains (1) summary

pfam05210
Location:165 → 262

Sprouty; Sprouty protein (Spry)
NM_001293290.3 → NP_001280219.1 protein sprouty homolog 4 isoform 2

See identical proteins and their annotated locations for NP_001280219.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).

Source sequence(s)

AC091825

Consensus CDS

CCDS47296.1

UniProtKB/Swiss-Prot

A4FVB2, A4FVB3, Q6QIX2, Q9C003, Q9C004

Conserved Domains (1) summary

pfam05210
Location:165 → 262

Sprouty; Sprouty protein (Spry)
NM_030964.5 → NP_112226.2 protein sprouty homolog 4 isoform 1

See identical proteins and their annotated locations for NP_112226.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC091825, AF227516, AK226147, BP387943, DA183391, T32786

Consensus CDS

CCDS4274.1

UniProtKB/TrEMBL

A0A0C4DFS6

Related

ENSP00000344967.4, ENST00000344120.4

Conserved Domains (1) summary

pfam05210
Location:188 → 285

Sprouty; Sprouty protein (Spry)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

142310430..142325021 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537685.4 → XP_011535987.1 protein sprouty homolog 4 isoform X1

See identical proteins and their annotated locations for XP_011535987.1

UniProtKB/TrEMBL

A0A0C4DFS6

Conserved Domains (1) summary

pfam05210
Location:188 → 285

Sprouty; Sprouty protein (Spry)
XM_017009910.3 → XP_016865399.1 protein sprouty homolog 4 isoform X2

UniProtKB/Swiss-Prot

A4FVB2, A4FVB3, Q6QIX2, Q9C003, Q9C004

Conserved Domains (1) summary

pfam05210
Location:165 → 262

Sprouty; Sprouty protein (Spry)