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

Gene ID: 81848, updated on 12-Sep-2021

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
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
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Genomic context

See SPRY4 in Genome Data Viewer
Location:
5q31.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (142310430..142325021, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141689995..141704586, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Nedd4 family interacting protein 1 Neighboring gene uncharacterized LOC107986455 Neighboring gene SPRY4 intronic transcript 1 Neighboring gene SPRY4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 738 Neighboring gene Sharpr-MPRA regulatory region 9292

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of testicular germ cell tumor.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Hypogonadotropic hypogonadism 17 with or without anosmia Compare labs
Hypogonadotropic hypogonadism 7 with or without anosmia Compare labs
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
GeneReviews: Not available
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
GeneReviews: Not available
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
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
PubMed 
located_in focal adhesion HDA PubMed 
located_in ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein sprouty homolog 4
Names
sprouty homolog 4

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_034148.1 RefSeqGene

    Range
    5035..19621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127496.3NP_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
    Q9C004
    Related
    ENSP00000399468.2, ENST00000434127.3
    Conserved Domains (1) summary
    pfam05210
    Location:165262
    Sprouty; Sprouty protein (Spry)
  2. NM_001293289.3NP_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
    Q9C004
    Conserved Domains (1) summary
    pfam05210
    Location:165262
    Sprouty; Sprouty protein (Spry)
  3. NM_001293290.3NP_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
    Q9C004
    Conserved Domains (1) summary
    pfam05210
    Location:165262
    Sprouty; Sprouty protein (Spry)
  4. NM_030964.5NP_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/Swiss-Prot
    Q9C004
    UniProtKB/TrEMBL
    A0A0C4DFS6
    Related
    ENSP00000344967.4, ENST00000344120.4
    Conserved Domains (1) summary
    pfam05210
    Location:188285
    Sprouty; Sprouty protein (Spry)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    142310430..142325021 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537685.3XP_011535987.1  protein sprouty homolog 4 isoform X1

    See identical proteins and their annotated locations for XP_011535987.1

    UniProtKB/Swiss-Prot
    Q9C004
    UniProtKB/TrEMBL
    A0A0C4DFS6
    Conserved Domains (1) summary
    pfam05210
    Location:188285
    Sprouty; Sprouty protein (Spry)
  2. XM_017009910.2XP_016865399.1  protein sprouty homolog 4 isoform X2

    UniProtKB/Swiss-Prot
    Q9C004
    Conserved Domains (1) summary
    pfam05210
    Location:165262
    Sprouty; Sprouty protein (Spry)
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