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Aliases for DDR2 Gene

Aliases for DDR2 Gene

  • Discoidin Domain Receptor Tyrosine Kinase 2 2 3 5
  • Discoidin Domain-Containing Receptor Tyrosine Kinase 2 3 4
  • Discoidin Domain Receptor Family, Member 2 2 3
  • Receptor Protein-Tyrosine Kinase TKT 3 4
  • CD167 Antigen-Like Family Member B 3 4
  • Tyrosine-Protein Kinase TYRO10 3 4
  • Discoidin Domain Receptor 2 3 4
  • NTRKR3 3 4
  • TYRO10 3 4
  • TKT 3 4
  • Neurotrophic Tyrosine Kinase, Receptor-Related 3 4
  • Neurotrophic Tyrosine Kinase Receptor Related 3 3
  • Discoidin Domain-Containing Receptor 2 3
  • Cell Migration-Inducing Protein 20 3
  • Migration-Inducing Gene 16 Protein 3
  • Hydroxyaryl-Protein Kinase 3
  • CD167b Antigen 4
  • EC 2.7.10.1 4
  • MIG20a 3

External Ids for DDR2 Gene

Previous HGNC Symbols for DDR2 Gene

  • TYRO10
  • NTRKR3

Previous GeneCards Identifiers for DDR2 Gene

  • GC01P160237
  • GC01P158253
  • GC01P159297
  • GC01P159789
  • GC01P159333
  • GC01P160868
  • GC01P162601
  • GC01P133847

Summaries for DDR2 Gene

Entrez Gene Summary for DDR2 Gene

  • 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]

CIViC summary for DDR2 Gene

GeneCards Summary for DDR2 Gene

DDR2 (Discoidin Domain Receptor Tyrosine Kinase 2) is a Protein Coding gene. Diseases associated with DDR2 include Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type and Squamous Cell Carcinoma. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is DDR1.

UniProtKB/Swiss-Prot for DDR2 Gene

  • Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing.

Gene Wiki entry for DDR2 Gene

Additional gene information for DDR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDR2 Gene

Genomics for DDR2 Gene

GeneHancer (GH) Regulatory Elements for DDR2 Gene

Promoters and enhancers for DDR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J162628 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 652.2 +1.1 1148 6.8 HDGF ARNT IRF4 ZNF766 ZNF207 ATF7 FOS RUNX3 JUNB REST DDR2 DUSP12 UHMK1 SH2D1B RN7SL861P
GH01J162679 Promoter/Enhancer 1 EPDnew dbSUPER 650.2 +48.1 48086 0.1 BCOR ZNF146 ZNF580 ZMYM3 DDR2 RN7SL861P
GH01J162673 Enhancer 1.2 Ensembl ENCODE dbSUPER 24.1 +42.3 42305 0.9 ZSCAN4 ZNF195 RFX5 ZEB1 ZNF138 ZNF366 RCOR1 FOS KLF13 SMARCC1 DUSP12 DDR2 ENSG00000272574 RN7SL861P
GH01J163320 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 12.5 +690.9 690895 3.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 NUF2 ENSG00000232995 RGS5 ENSG00000272574 DDR2 RGS4 UAP1 LOC101928404 LOC100422212
GH01J162560 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 -69.5 -69534 3.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 UAP1 GC01M162560 LOC102724358 DUSP12 DDR2 UHMK1 OLFML2B ENSG00000272574
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DDR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDR2 gene promoter:

Genomic Locations for DDR2 Gene

Genomic Locations for DDR2 Gene
chr1:162,631,265-162,787,400
(GRCh38/hg38)
Size:
156,136 bases
Orientation:
Plus strand
chr1:162,601,163-162,757,190
(GRCh37/hg19)

Genomic View for DDR2 Gene

Genes around DDR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDR2 Gene

Proteins for DDR2 Gene

  • Protein details for DDR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16832-DDR2_HUMAN
    Recommended name:
    Discoidin domain-containing receptor 2
    Protein Accession:
    Q16832
    Secondary Accessions:
    • Q7Z730

    Protein attributes for DDR2 Gene

    Size:
    855 amino acids
    Molecular mass:
    96736 Da
    Quaternary structure:
    • Binds hydroxyproline-rich sequence motifs in fibrillar, glycosylated collagen, such as the GQOGVMGFO motif, where O stands for hydroxyproline. Interacts with SRC. Interacts (tyrosine phosphorylated) with SHC1.

    Three dimensional structures from OCA and Proteopedia for DDR2 Gene

neXtProt entry for DDR2 Gene

Post-translational modifications for DDR2 Gene

  • N-glycosylated.
  • Tyrosine phosphorylated in response to collagen binding. Phosphorylated by SRC; this is required for activation and subsequent autophosphorylation on additional tyrosine residues.
  • Glycosylation at posLast=372372, posLast=280280, posLast=261261, posLast=213213, and posLast=121121
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DDR2 Gene

Domains & Families for DDR2 Gene

Gene Families for DDR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q16832

UniProtKB/Swiss-Prot:

DDR2_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with DDR2: view

Function for DDR2 Gene

Molecular function for DDR2 Gene

UniProtKB/Swiss-Prot Function:
Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Present in an inactive state in the absence of collagen binding and phosphorylation by SRC. Tyrosine phosphorylation enhances the affinity for ATP and the catalytic activity.
UniProtKB/Swiss-Prot Induction:
Up-regulated during osteoblast differentiation (in vitro). Up-regulated in cartilage from osteoarthritis patients.
GENATLAS Biochemistry:
discoidin domain recptor family,member 2,expressed in heart and lung

Enzyme Numbers (IUBMB) for DDR2 Gene

Phenotypes From GWAS Catalog for DDR2 Gene

Gene Ontology (GO) - Molecular Function for DDR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity IBA,IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IDA,TAS 20004161
GO:0004888 transmembrane signaling receptor activity IBA --
genes like me logo Genes that share ontologies with DDR2: view
genes like me logo Genes that share phenotypes with DDR2: view

Human Phenotype Ontology for DDR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDR2 Gene

MGI Knock Outs for DDR2:
  • Ddr2 Ddr2<tm1.1(cre/Esr1*)Rcow>
  • Ddr2 Ddr2<tm1Kln>
  • Ddr2 Ddr2<tm1a(EUCOMM)Wtsi>
  • Ddr2 Ddr2<tm1b(EUCOMM)Wtsi>

Animal Model Products

miRNA for DDR2 Gene

miRTarBase miRNAs that target DDR2

Clone Products

  • Addgene plasmids for DDR2

No data available for Transcription Factor Targets and HOMER Transcription for DDR2 Gene

Localization for DDR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDR2 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDR2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0005925 focal adhesion HDA 21423176
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with DDR2: view

Pathways & Interactions for DDR2 Gene

genes like me logo Genes that share pathways with DDR2: view

Pathways by source for DDR2 Gene

SIGNOR curated interactions for DDR2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for DDR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0003416 endochondral bone growth ISS --
GO:0006468 protein phosphorylation IEA --
GO:0007155 cell adhesion TAS 9659899
GO:0007165 signal transduction TAS 9659899
genes like me logo Genes that share ontologies with DDR2: view

Drugs & Compounds for DDR2 Gene

(7) Drugs for DDR2 Gene - From: DrugBank, ClinicalTrials, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Dasatinib Approved, Investigational Pharma Inhibition, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 295
Sorafenib Approved, Investigational Pharma inhibitors, inhibitor Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 717
Stivarga Approved February 2013/ Approved September 2012 Pharma 0

(1) Additional Compounds for DDR2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with DDR2: view

Transcripts for DDR2 Gene

Unigene Clusters for DDR2 Gene

Discoidin domain receptor tyrosine kinase 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for DDR2

Alternative Splicing Database (ASD) splice patterns (SP) for DDR2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for DDR2 Gene

GeneLoc Exon Structure for
DDR2
ECgene alternative splicing isoforms for
DDR2

Expression for DDR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDR2 Gene

This gene is overexpressed in Adrenal Gland (x4.5).

Protein differential expression in normal tissues from HIPED for DDR2 Gene

This gene is overexpressed in Adrenal (26.4), Colon (11.8), Rectum (8.3), and Urinary Bladder (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDR2 Gene



Protein tissue co-expression partners for DDR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDR2 Gene:

DDR2

SOURCE GeneReport for Unigene cluster for DDR2 Gene:

Hs.275757

mRNA Expression by UniProt/SwissProt for DDR2 Gene:

Q16832-DDR2_HUMAN
Tissue specificity: Detected in osteocytes, osteoblastic cells in subchondral bone, bone lining cells, tibia and cartilage (at protein level). Detected at high levels in heart and lung, and at low levels in brain, placenta, liver, skeletal muscle, pancreas, and kidney.

Evidence on tissue expression from TISSUES for DDR2 Gene

  • Heart(4.5)
  • Skin(4.5)
  • Nervous system(3.4)
  • Lung(2.4)
  • Muscle(2.2)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DDR2: view

Orthologs for DDR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DDR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDR2 34 33
  • 99.84 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDR2 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDR2 34 33
  • 92.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DDR2 34 33
  • 92.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ddr2 16 34 33
  • 90.24 (n)
rat
(Rattus norvegicus)
Mammalia Ddr2 33
  • 90.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDR2 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDR2 33
  • 76.75 (n)
lizard
(Anolis carolinensis)
Reptilia DDR2 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497889 33
  • 75.13 (n)
zebrafish
(Danio rerio)
Actinopterygii ddr2a 34 33
  • 72.78 (n)
OneToMany
ddr2b 34
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ddr 34 33
  • 49.78 (n)
ManyToMany
CG34380 34
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ddr-2 34 33
  • 47.54 (n)
OneToMany
F11D5.3a 35
  • 32 (a)
F11D5.3b 35
  • 32 (a)
C25F6.4 35
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1149 34
  • 37 (a)
OneToMany
Species where no ortholog for DDR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDR2 Gene

ENSEMBL:
Gene Tree for DDR2 (if available)
TreeFam:
Gene Tree for DDR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDR2: view image

Paralogs for DDR2 Gene

Paralogs for DDR2 Gene

(5) SIMAP similar genes for DDR2 Gene using alignment to 5 proteins:

  • DDR2_HUMAN
  • H0Y570_HUMAN
  • Q5T241_HUMAN
  • Q5T244_HUMAN
  • Q5T245_HUMAN
genes like me logo Genes that share paralogs with DDR2: view

Variants for DDR2 Gene

Sequence variations from dbSNP and Humsavar for DDR2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057519789 not-provided, likely-pathogenic, Non-small cell lung cancer, Squamous cell carcinoma of lung 162,775,707(+) A/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519790 likely-pathogenic, not-provided, Squamous cell carcinoma of lung, Non-small cell lung cancer 162,778,617(+) G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs115169993 benign, not-provided, likely-pathogenic, not specified, Non-small cell lung cancer, Squamous cell carcinoma of lung 162,772,032(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs121964863 pathogenic, Spondylometaepiphyseal dysplasia short limb-hand type, Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] 162,776,341(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121964864 pathogenic, Spondylometaepiphyseal dysplasia short limb-hand type, Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] 162,776,264(+) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DDR2 Gene

Variant ID Type Subtype PubMed ID
esv3387297 CNV insertion 20981092
esv3587752 CNV loss 21293372
nsv1120073 OTHER inversion 24896259
nsv1122414 CNV deletion 24896259
nsv3299 CNV insertion 18451855
nsv478620 CNV novel sequence insertion 20440878
nsv516482 CNV gain+loss 19592680

Variation tolerance for DDR2 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDR2 Gene

Human Gene Mutation Database (HGMD)
DDR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDR2 Gene

Disorders for DDR2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DDR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spondylometaepiphyseal dysplasia, short limb-hand type
  • smed-sl
squamous cell carcinoma
  • epidermoid carcinoma
lung cancer
  • lung cancer, susceptibility to
pectus excavatum
  • funnel chest
lung adenoid cystic carcinoma
  • adenoid cystic carcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search DDR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDR2_HUMAN
  • Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]: A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping. {ECO:0000269 PubMed:19110212, ECO:0000269 PubMed:20223752, ECO:0000269 PubMed:26463668}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DDR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DDR2: view

No data available for Genatlas for DDR2 Gene

Publications for DDR2 Gene

  1. Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients. (PMID: 20223752) Ali BR … Leitinger B (Human molecular genetics 2010) 3 4 22 58
  2. Crystallographic insight into collagen recognition by discoidin domain receptor 2. (PMID: 20004161) Carafoli F … Hohenester E (Structure (London, England : 1993) 2009) 3 4 22 58
  3. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. (PMID: 19110212) Bargal R … Raas-Rothschild A (American journal of human genetics 2009) 3 4 22 58
  4. Characterization of high affinity binding motifs for the discoidin domain receptor DDR2 in collagen. (PMID: 18201965) Konitsiotis AD … Leitinger B (The Journal of biological chemistry 2008) 3 4 22 58
  5. Structural basis of the collagen-binding mode of discoidin domain receptor 2. (PMID: 17703188) Ichikawa O … Shimada I (The EMBO journal 2007) 3 4 22 58

Products for DDR2 Gene

Sources for DDR2 Gene

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