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ROR2 receptor tyrosine kinase like orphan receptor 2 [ Homo sapiens (human) ]

Gene ID: 4920, updated on 4-Jan-2025

Summary

Official Symbol
ROR2provided by HGNC
Official Full Name
receptor tyrosine kinase like orphan receptor 2provided by HGNC
Primary source
HGNC:HGNC:10257
See related
Ensembl:ENSG00000169071 MIM:602337; AllianceGenome:HGNC:10257
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
BDB; BDB1; NTRKR2
Summary
The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]
Expression
Broad expression in endometrium (RPKM 5.4), gall bladder (RPKM 3.7) and 18 other tissues See more
Orthologs
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Genomic context

See ROR2 in Genome Data Viewer
Location:
9q22.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (91722601..91950228, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (103889331..104116677, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (94484883..94712510, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 Neighboring gene microRNA 3910-1 Neighboring gene microRNA 3910-2 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94455452-94456013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20027 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94544427-94544926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94561969-94562469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94605877-94606451 Neighboring gene uncharacterized LOC124902210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94619147-94619806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94619807-94620466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94647759-94648342 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94648343-94648926 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94648927-94649508 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94656806-94657388 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:94660754-94661368 and GRCh37_chr9:94661369-94661982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94667938-94668501 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:94670331-94670937 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94683071-94683911 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:94683912-94684752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94696982-94697815 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:94702261-94702775 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94707493-94707994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94711301-94711802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94711803-94712302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20028 Neighboring gene Sharpr-MPRA regulatory region 183 Neighboring gene Sharpr-MPRA regulatory region 9366 Neighboring gene uncharacterized LOC105376148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109489 Neighboring gene uncharacterized LOC107987094

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive Robinow syndrome
MedGen: C5399974 OMIM: 268310 GeneReviews: ROR2-Related Robinow Syndrome
Compare labs
Brachydactyly type B1
MedGen: C1862112 OMIM: 113000 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2013-03-27)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2013-03-27)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC163394

Gene Ontology Provided by GOA

Items 1 - 25 of 26
Function Evidence Code Pubs
enables ATP binding  
enables GPI-linked ephrin receptor activity  
enables Wnt-protein binding  
enables Wnt-protein binding PubMed 
enables boss receptor activity  
enables brain-derived neurotrophic factor receptor activity  
enables coreceptor activity PubMed 
enables epidermal growth factor receptor activity  
enables fibroblast growth factor receptor activity  
enables hepatocyte growth factor receptor activity  
enables histone H2AXY142 kinase activity  
enables histone H3Y41 kinase activity  
enables insulin receptor activity  
enables insulin-like growth factor receptor activity  
enables macrophage colony-stimulating factor receptor activity  
enables metal ion binding  
enables mitogen-activated protein kinase kinase kinase binding PubMed 
enables placental growth factor receptor activity  
enables platelet-derived growth factor alpha-receptor activity  
enables platelet-derived growth factor beta-receptor activity  
enables protein binding PubMed 
enables protein tyrosine kinase collagen receptor activity  
enables stem cell factor receptor activity  
enables transmembrane receptor protein tyrosine kinase activity  
enables transmembrane-ephrin receptor activity  
enables vascular endothelial growth factor receptor activity  
Items 1 - 25 of 26
Items 1 - 25 of 28
Process Evidence Code Pubs
involved_in Kit signaling pathway  
involved_in Wnt signaling pathway  
involved_in astrocyte development  
involved_in bone mineralization  
involved_in brain-derived neurotrophic factor receptor signaling pathway  
involved_in cell surface receptor protein tyrosine kinase signaling pathway  
involved_in chromatin remodeling  
involved_in collagen-activated tyrosine kinase receptor signaling pathway  
involved_in ephrin receptor signaling pathway  
involved_in epidermal growth factor receptor signaling pathway  
involved_in fibroblast growth factor receptor signaling pathway  
involved_in hepatocyte growth factor receptor signaling pathway  
involved_in insulin receptor signaling pathway  
involved_in insulin-like growth factor receptor signaling pathway  
involved_in macrophage colony-stimulating factor signaling pathway  
involved_in macrophage migration  
involved_in male genitalia development  
involved_in multicellular organism development  
involved_in platelet-derived growth factor receptor-alpha signaling pathway  
involved_in platelet-derived growth factor receptor-beta signaling pathway  
involved_in positive regulation of cell migration PubMed 
involved_in positive regulation of macrophage differentiation  
involved_in positive regulation of synaptic transmission, glutamatergic  
involved_in regulation of postsynapse organization  
involved_in regulation of synaptic signaling by nitric oxide  
involved_in signal transduction PubMed 
involved_in vascular endothelial growth factor receptor-1 signaling pathway  
involved_in vascular endothelial growth factor signaling pathway  
Items 1 - 25 of 28
Component Evidence Code Pubs
is_active_in axon  
located_in cell surface  
located_in clathrin-coated endocytic vesicle membrane  
located_in dendrite  
located_in glutamatergic synapse  
located_in microtubule  
located_in neuronal cell body  
is_active_in plasma membrane  
located_in plasma membrane  
located_in postsynapse  
part_of receptor complex  

General protein information

Preferred Names
tyrosine-protein kinase transmembrane receptor ROR2
Names
neurotrophic tyrosine kinase receptor-related 2
NP_001305133.1
NP_004551.2
XP_005252065.1
XP_005252066.1
XP_006717184.1
XP_016870251.1
XP_047279390.1
XP_047279391.1
XP_047279392.1
XP_047279393.1
XP_054219004.1
XP_054219005.1
XP_054219006.1
XP_054219007.1
XP_054219008.1
XP_054219009.1
XP_054219010.1

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

  1. NG_008089.1 RefSeqGene

    Range
    4935..232562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318204.2NP_001305133.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the penultimate exon and its 3' terminal exon extends past a splice site used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL391219, AL583841, BC051273, M97639
    UniProtKB/Swiss-Prot
    Q01974
    Conserved Domains (4) summary
    cd07468
    Location:170309
    CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
    smart00408
    Location:75141
    IGc2; Immunoglobulin C-2 Type
    smart00130
    Location:314394
    KR; Kringle domain
    pfam07679
    Location:64152
    I-set; Immunoglobulin I-set domain
  2. NM_004560.4NP_004551.2  tyrosine-protein kinase transmembrane receptor ROR2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004551.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL391219, BI089313, BQ446244, M97639
    Consensus CDS
    CCDS6691.1
    UniProtKB/Swiss-Prot
    Q01974, Q59GF5, Q5SPI5, Q9HAY7, Q9HB61
    UniProtKB/TrEMBL
    A1L4F5
    Related
    ENSP00000364860.3, ENST00000375708.4
    Conserved Domains (6) summary
    cd07468
    Location:170309
    CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
    smart00408
    Location:75141
    IGc2; Immunoglobulin C-2 Type
    smart00130
    Location:314395
    KR; Kringle domain
    pfam07679
    Location:64152
    I-set; Immunoglobulin I-set domain
    cd05091
    Location:466749
    PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
    pfam07714
    Location:473746
    Pkinase_Tyr; Protein tyrosine kinase

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

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    91722601..91950228 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252008.5XP_005252065.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    See identical proteins and their annotated locations for XP_005252065.1

    UniProtKB/TrEMBL
    A1L4F5
    Conserved Domains (4) summary
    cd07468
    Location:30169
    CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
    smart00130
    Location:174255
    KR; Kringle domain
    cd05091
    Location:326609
    PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
    pfam07714
    Location:333606
    Pkinase_Tyr; Protein tyrosine kinase
  2. XM_047423436.1XP_047279392.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  3. XM_047423435.1XP_047279391.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
    Related
    ENST00000550066.5
  4. XM_047423437.1XP_047279393.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  5. XM_047423434.1XP_047279390.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  6. XM_017014762.2XP_016870251.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X1

    UniProtKB/TrEMBL
    A1L4F5
  7. XM_006717121.4XP_006717184.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    See identical proteins and their annotated locations for XP_006717184.1

    UniProtKB/TrEMBL
    A1L4F5
    Conserved Domains (4) summary
    cd07468
    Location:30169
    CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
    smart00130
    Location:174255
    KR; Kringle domain
    cd05091
    Location:326609
    PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
    pfam07714
    Location:333606
    Pkinase_Tyr; Protein tyrosine kinase
  8. XM_005252009.4XP_005252066.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X3

    Conserved Domains (2) summary
    cd05091
    Location:65348
    PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
    pfam07714
    Location:72345
    Pkinase_Tyr; Protein tyrosine kinase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    103889331..104116677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363033.1XP_054219008.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  2. XM_054363032.1XP_054219007.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  3. XM_054363030.1XP_054219005.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  4. XM_054363031.1XP_054219006.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  5. XM_054363029.1XP_054219004.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X1

    UniProtKB/TrEMBL
    A1L4F5
  6. XM_054363034.1XP_054219009.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    UniProtKB/TrEMBL
    A1L4F5
  7. XM_054363035.1XP_054219010.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X3

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