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

Gene ID: 4921, updated on 13-Jan-2019

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
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; 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

Genomic context

See DDR2 in Genome Data Viewer
Location:
1q23.3
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (162631265..162786573)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162602228..162756409)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724358 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene 2 Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene hydroxysteroid 17-beta dehydrogenase 7 Neighboring gene coiled-coil domain containing 190

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
    Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
collagen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase collagen receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine kinase collagen receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chondrocyte proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
chondrocyte proliferation TAS
Traceable Author Statement
more info
PubMed 
collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen-activated tyrosine kinase receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
endochondral bone growth ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of extracellular matrix disassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fibroblast migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fibroblast migration TAS
Traceable Author Statement
more info
PubMed 
positive regulation of fibroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of extracellular matrix disassembly TAS
Traceable Author Statement
more info
PubMed 
regulation of extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
NP_001341911.1
NP_001341912.1
NP_006173.2
XP_011507889.1
XP_011507890.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_016290.2 RefSeqGene

    Range
    6169..160361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001014796.2NP_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
    UniProtKB/TrEMBL
    A0A024R906
    Related
    ENSP00000356899.2, ENST00000367922.7
    Conserved Domains (2) summary
    cd00057
    Location:32184
    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:557851
    PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
  2. NM_001354982.1NP_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
    Conserved Domains (2) summary
    cd00057
    Location:32184
    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:557851
    PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
  3. NM_001354983.1NP_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
    Related
    ENSP00000400309.2, ENST00000446985.6
    Conserved Domains (2) summary
    cd00057
    Location:32184
    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:557851
    PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
  4. NM_006182.4NP_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
    UniProtKB/TrEMBL
    A0A024R906
    Related
    ENSP00000356898.3, ENST00000367921.7
    Conserved Domains (2) summary
    cd00057
    Location:32184
    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:557851
    PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    162631265..162786573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509587.2XP_011507889.1  discoidin domain-containing receptor 2 isoform X1

    See identical proteins and their annotated locations for XP_011507889.1

    UniProtKB/Swiss-Prot
    Q16832
    UniProtKB/TrEMBL
    A0A024R906
    Conserved Domains (2) summary
    cd00057
    Location:32184
    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:557851
    PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
  2. XM_011509588.3XP_011507890.1  discoidin domain-containing receptor 2 isoform X2

    Conserved Domains (2) summary
    smart00231
    Location:30185
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00057
    Location:32184
    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.
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