Gene
SPRED2
sprouty related EVH1 domain containing 2
- HGNC 17722↗(opens in a new tab)
- Ensembl gene ENSG00000198369↗(opens in a new tab)
- NCBI Gene 200734↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p14
- Coordinates
- Chromosome 2: 65,310,851–65,432,599 (GRCh38)
- Exons
- 6 exons across 121.7 kb
- Protein
- 418 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- Spred-2, FLJ21897, FLJ31917
- MANE Select transcript
- ENST00000356388.9NM_181784.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Get my Genome TestCurated reports relevant to this gene
Noonan Syndrome
- Autosomal dominant
Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials
- Noonan Syndrome and Noonan-Related Syndromes
A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it supports heart, growth and developmental assessment.
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How SPRED2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.5 kb of the gene's 121.7 kb; 1,257 of those bases code for the protein.
How a genome test reads SPRED2
4
positions in SPRED2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 121.7 kb of SPRED2, introns included, not only the 4.5 kb of exons.
Genes linked to the same conditions
- BRAFB-Raf proto-oncogene, serine/threonine kinaseShares 3 conditions
- ERFETS2 repressor factorShares 3 conditions
- KRASKRas proto-oncogene, GTPaseShares 3 conditions
- LZTR1leucine zipper like post translational regulator 1Shares 3 conditions
- MAPK1mitogen-activated protein kinase 1Shares 3 conditions
- MRASmuscle RAS oncogene homologShares 3 conditions
- NRASNRAS proto-oncogene, GTPaseShares 3 conditions
- PPP1CBprotein phosphatase 1 catalytic subunit betaShares 3 conditions
- PTPN11protein tyrosine phosphatase non-receptor type 11Shares 3 conditions
- RAF1Raf-1 proto-oncogene, serine/threonine kinaseShares 3 conditions
- RIT1Ras like without CAAX 1Shares 3 conditions
- RRAS2RAS related 2Shares 3 conditions
Traits linked to SPRED2
The Human Phenotype Ontology lists these as features of the rare conditions SPRED2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Deep palm line
- Outward turned elbows
- Curvature of digit
- Curvature of little finger
- Dropped arches
- Fused forearm bones
- Limited elbow extension
- Pes valgus
Show 2 more traits
Abnormality of the musculoskeletal system
- Funnel chest
- Double-Jointed
- Muscle weakness
- Pigeon chest
- Wide rib cage
- Delayed bone maturation
- Hunched back
- Low muscle tone
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SPRED2 gene: sprouty related EVH1 domain containing 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/spred2
Dante Labs. SPRED2 gene: sprouty related EVH1 domain containing 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/spred2
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