DDR2 discoidin domain receptor tyrosine kinase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDR2provided by HGNC
Official Full Name: discoidin domain receptor tyrosine kinase 2provided by HGNC
Primary source: HGNC:HGNC:2731
See related: Ensembl:ENSG00000162733 MIM:191311; AllianceGenome:HGNC:2731
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: TKT; WRCN; MIG20a; NTRKR3; TYRO10
Summary: 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]
Expression: Broad expression in fat (RPKM 30.2), adrenal (RPKM 24.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (162630863..162787405)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (161974884..162131644)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (162600653..162757195)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DDR2 expression in breast cancer is associated with blood vessel invasion, basal-like tumors, tumor associated macrophages, regulatory T cells, detection mode and prognosis.
Title: DDR2 expression in breast cancer is associated with blood vessel invasion, basal-like tumors, tumor associated macrophages, regulatory T cells, detection mode and prognosis.
DDR2 signaling and mechanosensing orchestrate neuroblastoma cell fate through different transcriptome mechanisms.
Title: DDR2 signaling and mechanosensing orchestrate neuroblastoma cell fate through different transcriptome mechanisms.
METTL3/YTHDF1 m[6]A axis promotes tumorigenesis by enhancing DDR2 expression in ovarian cancer.
Title: METTL3/YTHDF1 m(6)A axis promotes tumorigenesis by enhancing DDR2 expression in ovarian cancer.
DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.
Title: DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.
DDR2 coordinates EMT and metabolic reprogramming as a shared effector of FOXQ1 and SNAI1.
Title: DDR2 coordinates EMT and metabolic reprogramming as a shared effector of FOXQ1 and SNAI1.
Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study.
Title: Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study.
Special issue "The advance of solid tumor research in China": Discoidin domain receptor 2 promotes colorectal cancer metastasis by regulating epithelial mesenchymal transition via activating AKT signaling.
Title: Special issue "The advance of solid tumor research in China": Discoidin domain receptor 2 promotes colorectal cancer metastasis by regulating epithelial mesenchymal transition via activating AKT signaling.
Co-expression of DDR2 and IFITM1 promotes breast cancer cell proliferation, migration and invasion and inhibits apoptosis.
Title: Co-expression of DDR2 and IFITM1 promotes breast cancer cell proliferation, migration and invasion and inhibits apoptosis.
Discoidin Domain Receptor 2 Expression as Worse Prognostic Marker in Invasive Breast Cancer.
Title: Discoidin Domain Receptor 2 Expression as Worse Prognostic Marker in Invasive Breast Cancer.
Amplification of DDR2 mediates sorafenib resistance through NF-kappaB/c-Rel signaling in hepatocellular carcinoma.
Title: Amplification of DDR2 mediates sorafenib resistance through NF-κB/c-Rel signaling in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (103)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MedGen: C1849011 OMIM: 271665 GeneReviews: Not available	Compare labs
Warburg-cinotti syndrome MedGen: C5193019 OMIM: 618175 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G34973 (e-PCR)
- UniSTS:117651

PMC112259P1 (e-PCR)
- UniSTS:270228

D1S2434 (e-PCR)
- UniSTS:77208

D1S2420 (e-PCR)
- UniSTS:36516

L18077 (e-PCR)
- UniSTS:78545

RH65150 (e-PCR)
- UniSTS:84969

RH66899 (e-PCR)
- UniSTS:87805

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables collagen binding	IBA Inferred from Biological aspect of Ancestor more info
enables collagen binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase collagen receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine kinase collagen receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in biomineral tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to angiotensin	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in chondrocyte proliferation	TAS Traceable Author Statement more info	PubMed
involved_in collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in collagen-activated tyrosine kinase receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in endochondral bone growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hydrogen peroxide-mediated programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of extracellular matrix disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fibroblast migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fibroblast migration	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of fibroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of hepatic stellate cell activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hepatic stellate cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of wound healing	IEA Inferred from Electronic Annotation more info
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of extracellular matrix disassembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of tissue remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to muscle stretch	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: discoidin domain-containing receptor 2

Names: CD167 antigen-like family member B; cell migration-inducing protein 20; discoidin domain receptor 2; discoidin domain receptor family, member 2; discoidin domain-containing receptor tyrosine kinase 2; hydroxyaryl-protein kinase; migration-inducing gene 16 protein; neurotrophic tyrosine kinase receptor related 3; receptor protein-tyrosine kinase TKT; tyrosine-protein kinase TYRO10

NP_001014796.1

EC 2.7.10.1

NP_001341911.1

EC 2.7.10.1

NP_001341912.1

EC 2.7.10.1

NP_006173.2

EC 2.7.10.1

XP_011507889.1

EC 2.7.10.1

XP_011507890.1

EC 2.7.10.1

XP_047277510.1

EC 2.7.10.1

XP_047277521.1

EC 2.7.10.1

XP_054192777.1

EC 2.7.10.1

XP_054192778.1

EC 2.7.10.1

XP_054192779.1

EC 2.7.10.1

XP_054192780.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

NG_016290.2 RefSeqGene

Range

6252..161193

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1390

mRNA and Protein(s)

NM_001014796.3 → NP_001014796.1 discoidin domain-containing receptor 2 precursor

See identical proteins and their annotated locations for NP_001014796.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same isoform.

Source sequence(s)

AL445197, AL596325, BC052998, BX537651, DA852104

Consensus CDS

CCDS1241.1

UniProtKB/Swiss-Prot

Q16832, Q7Z730

UniProtKB/TrEMBL

Q6MZT2

Related

ENSP00000356899.2, ENST00000367922.7

Conserved Domains (2) summary

cd00057
Location:32 → 184

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd05095
Location:557 → 851

PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
NM_001354982.2 → NP_001341911.1 discoidin domain-containing receptor 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform.

Source sequence(s)

AL445197, AL596325, BX537651

Consensus CDS

CCDS1241.1

UniProtKB/Swiss-Prot

Q16832, Q7Z730

UniProtKB/TrEMBL

Q6MZT2

Conserved Domains (2) summary

cd00057
Location:32 → 184

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd05095
Location:557 → 851

PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
NM_001354983.2 → NP_001341912.1 discoidin domain-containing receptor 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform.

Source sequence(s)

AL445197, AL596325, BX537651, DA919943

Consensus CDS

CCDS1241.1

UniProtKB/Swiss-Prot

Q16832, Q7Z730

UniProtKB/TrEMBL

Q6MZT2

Related

ENSP00000400309.2, ENST00000446985.6

Conserved Domains (2) summary

cd00057
Location:32 → 184

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd05095
Location:557 → 851

PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
NM_006182.4 → NP_006173.2 discoidin domain-containing receptor 2 precursor

See identical proteins and their annotated locations for NP_006173.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform.

Source sequence(s)

AK314388, AL445197, AL596325, BX537651, DA852104

Consensus CDS

CCDS1241.1

UniProtKB/Swiss-Prot

Q16832, Q7Z730

UniProtKB/TrEMBL

Q6MZT2

Related

ENSP00000356898.3, ENST00000367921.8

Conserved Domains (2) summary

cd00057
Location:32 → 184

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd05095
Location:557 → 851

PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

162630863..162787405

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421554.1 → XP_047277510.1 discoidin domain-containing receptor 2 isoform X1

UniProtKB/Swiss-Prot

Q16832, Q7Z730
XM_011509587.3 → XP_011507889.1 discoidin domain-containing receptor 2 isoform X1

See identical proteins and their annotated locations for XP_011507889.1

UniProtKB/Swiss-Prot

Q16832, Q7Z730

UniProtKB/TrEMBL

Q6MZT2

Conserved Domains (2) summary

cd00057
Location:32 → 184

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd05095
Location:557 → 851

PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
XM_047421565.1 → XP_047277521.1 discoidin domain-containing receptor 2 isoform X2
XM_011509588.4 → XP_011507890.1 discoidin domain-containing receptor 2 isoform X3

Related

ENST00000672207.1

Conserved Domains (2) summary

smart00231
Location:30 → 185

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:32 → 184

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

161974884..162131644

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336802.1 → XP_054192777.1 discoidin domain-containing receptor 2 isoform X1

UniProtKB/Swiss-Prot

Q16832, Q7Z730
XM_054336803.1 → XP_054192778.1 discoidin domain-containing receptor 2 isoform X1

UniProtKB/Swiss-Prot

Q16832, Q7Z730
XM_054336804.1 → XP_054192779.1 discoidin domain-containing receptor 2 isoform X2
XM_054336805.1 → XP_054192780.1 discoidin domain-containing receptor 2 isoform X3