Discoidin Domain Receptor Family, Member 2

Alternative Names

  • DDR2
  • Neurotrophic Tyrosine Kinase Receptor-Related 3
  • NTRKR3
  • Tyrosine Kinase Receptor Related to Neurotrophic TRK
  • TKT
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OMIM Number

191311

NCBI Gene ID

4921

Uniprot ID

Q16832

Length

156,543 bases

No. of Exons

22

No. of isoforms

1

Protein Name

Discoidin domain-containing receptor 2

Molecular Mass

96736 Da

Amino Acid Count

855

Genomic Location

chr1:162,630,863-162,787,405

Gene Map Locus
1q23.3

Description

Discoidin Domain Receptor Family, Member 2 gene encodes for discoidin domain receptors (DDR2), it consists of 855 amino acids and weighs about 97 kDa. DDR2 is a member of the subfamily of receptor tyrosine kinases (RTKs) that regulate cell differentiation, remodeling of the extracellular matrix, cell migration, and cell proliferation. DDR2 is found on cells of mesenchymal origin, and it functions in human skeletal growth.

Molecular Genetics

The DDR2 gene is mapped to chromosome 1q23.3, and it is only about 3 kb long with 19 exons. Mutation in the DDR2 gene is found to be responsible for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type disorder (SEMD-SL). Four mutations in the DDR2 gene have been identified in people affected with SEMD-SL disorder; three of them were missense mutations c.C2254T (p.R752C), c.T2177G (p.I726R), and c.C2138T (p.T713I), while one was a splice site mutation IVS17 G>A, +1 resulting in skipping exon 17.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001014796.3:c.2254C>TEgyptchr1:162776341PathogenicPathogenicSpondylometaepiphyseal Dysplasia, Short Limb-Hand TypeNG_016290.2:g.150129C>T; NM_001014796.3:c.2254C>T; NP_006173.2:p.Arg752Cys12196486312313
NM_006182.4:c.2468_2469delOmanNC_000001.11:g.162780146_162780147delPathogenicSpondylometaepiphyseal Dysplasia, Short Limb-Hand TypeNG_016290.2:g.153934_153935del; NM_006182.4:c.2468_2469del; NP_006173.2:p.Ser823CysfsTer3

Other Reports

Algeria

[See: Palestine > Bargal et al., 2009].

Palestine

Bargal et al. (2009) studied six patients with SMED-SL belonging to five unrelated Arab Muslim families from the Jerusalem area. Homozygosity mapping on these and another affected patient from Algeria identified a 2.4 Mb candidate region on chromosome 1q, which included the DDR2 gene. Sequencing of this gene identified a single missesnse mutation c.2254C>T (p.R752C), in all six patients from Jerusalem and another missense mutation, c.2177 T>G (p.I726R), in an Algerian patient.

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