DDR2

Chr 1

discoidin domain receptor tyrosine kinase 2

Also known as: DDR2-N, MIG20a, NTRKR3, TKT, TYRO10, WRCN

NCBI Gene: 4921ENSG00000162733UniProt: Q16832

This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpondyloepimetaphyseal dysplasia, short limb-hand type
UniProtWarburg-Cinotti syndrome

Clinical highlights

Gene-disease validity (ClinGen)
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
90
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.38
LOEUF
GOF
Mechanism· predicted
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GeneReview available — DDR2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.38LOEUF
pLI 0.550
Z-score 4.70
OE 0.22 (0.13–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.29Z-score
OE missense 0.70 (0.64–0.77)
324 obs / 462.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.13–0.38)
0≤0.351.4
Missense OE?0.70 (0.64–0.77)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 9 / 41.8Missense obs/exp: 324 / 462.4Syn Z: -0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DDR2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients