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

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: mouse all
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Genomic context

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_000009.12 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?

Ror2 signaling regulated by differential Wnt proteins determines pathological fate of muscle mesenchymal progenitors.
Title: Ror2 signaling regulated by differential Wnt proteins determines pathological fate of muscle mesenchymal progenitors.
Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.
Title: Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.
miR-124-3p and miR-194-5p regulation of the PI3K/AKT pathway via ROR2 in medulloblastoma progression.
Title: miR-124-3p and miR-194-5p regulation of the PI3K/AKT pathway via ROR2 in medulloblastoma progression.
Role of the Ror family receptors in Wnt5a signaling.
Title: Role of the Ror family receptors in Wnt5a signaling.
ROR2/Wnt5a Signaling Regulates Directional Cell Migration and Early Tumor Cell Invasion in Ovarian Cancer.
Title: ROR2/Wnt5a Signaling Regulates Directional Cell Migration and Early Tumor Cell Invasion in Ovarian Cancer.
[Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
Title: [Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
ROR2 expression predicts human induced pluripotent stem cell differentiation into neural stem/progenitor cells and GABAergic neurons.
Title: ROR2 expression predicts human induced pluripotent stem cell differentiation into neural stem/progenitor cells and GABAergic neurons.
ROR2 deficit may induce the tetralogy of Fallot via down-regulating of beta-catenin/SOX3/HSPA6 in vitro and in vivo.
Title: ROR2 deficit may induce the tetralogy of Fallot via down-regulating of β-catenin/SOX3/HSPA6 in vitro and in vivo.
Expression of Wnt5a and ROR2, Components of the Noncanonical Wnt-Signaling Pathway, is Associated with Tumor Differentiation in Hepatocellular Carcinoma.
Title: Expression of Wnt5a and ROR2, Components of the Noncanonical Wnt-Signaling Pathway, is Associated with Tumor Differentiation in Hepatocellular Carcinoma.
Cancer-associated fibroblasts influence Wnt/PCP signaling in gastric cancer cells by cytoneme-based dissemination of ROR2.
Title: Cancer-associated fibroblasts influence Wnt/PCP signaling in gastric cancer cells by cytoneme-based dissemination of ROR2.

Submit: New GeneRIF Correction See all GeneRIFs (111)

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

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 EBI GWAS CatalogPubMed

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

G54475 (e-PCR)
- UniSTS:140810

G54539 (e-PCR)
- UniSTS:140829

D9S2051 (e-PCR)
- UniSTS:74074

SHGC-149914 (e-PCR)
- UniSTS:177300

RH66768 (e-PCR)
- UniSTS:79009

RH92164 (e-PCR)
- UniSTS:91574

SHGC-148721 (e-PCR)
- UniSTS:176578

PMC114715P2 (e-PCR)
- UniSTS:270277

PMC114715P3 (e-PCR)
- UniSTS:270278

G54476 (e-PCR)
- UniSTS:140795

ROR2__5517 (e-PCR)
- UniSTS:463871

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt-protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables coreceptor activity	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables mitogen-activated protein kinase kinase kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage migration	IEA Inferred from Electronic Annotation more info
involved_in male genitalia development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage differentiation	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 phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic signaling by nitric oxide	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tyrosine-protein kinase transmembrane receptor ROR2

Names: neurotrophic tyrosine kinase receptor-related 2

NP_001305133.1

EC 2.7.10.1

NP_004551.2

EC 2.7.10.1

XP_005252065.1

EC 2.7.10.1

XP_005252066.1

EC 2.7.10.1

XP_006717184.1

EC 2.7.10.1

XP_016870251.1

EC 2.7.10.1

XP_047279390.1

EC 2.7.10.1

XP_047279391.1

EC 2.7.10.1

XP_047279392.1

EC 2.7.10.1

XP_047279393.1

EC 2.7.10.1

XP_054219004.1

EC 2.7.10.1

XP_054219005.1

EC 2.7.10.1

XP_054219006.1

EC 2.7.10.1

XP_054219007.1

EC 2.7.10.1

XP_054219008.1

EC 2.7.10.1

XP_054219009.1

EC 2.7.10.1

XP_054219010.1

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_008089.1 RefSeqGene

Range

4935..232562

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001318204.2 → NP_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:170 → 309

CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2

smart00408
Location:75 → 141

IGc2; Immunoglobulin C-2 Type

smart00130
Location:314 → 394

KR; Kringle domain

pfam07679
Location:64 → 152

I-set; Immunoglobulin I-set domain
NM_004560.4 → NP_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:170 → 309

CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2

smart00408
Location:75 → 141

IGc2; Immunoglobulin C-2 Type

smart00130
Location:314 → 395

KR; Kringle domain

pfam07679
Location:64 → 152

I-set; Immunoglobulin I-set domain

cd05091
Location:466 → 749

PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2

pfam07714
Location:473 → 746

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

91722601..91950228 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005252008.5 → XP_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:30 → 169

CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2

smart00130
Location:174 → 255

KR; Kringle domain

cd05091
Location:326 → 609

PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2

pfam07714
Location:333 → 606

Pkinase_Tyr; Protein tyrosine kinase
XM_047423436.1 → XP_047279392.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_047423435.1 → XP_047279391.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

Related

ENST00000550066.5
XM_047423437.1 → XP_047279393.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_047423434.1 → XP_047279390.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_017014762.2 → XP_016870251.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X1

UniProtKB/TrEMBL

A1L4F5
XM_006717121.4 → XP_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:30 → 169

CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2

smart00130
Location:174 → 255

KR; Kringle domain

cd05091
Location:326 → 609

PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2

pfam07714
Location:333 → 606

Pkinase_Tyr; Protein tyrosine kinase
XM_005252009.4 → XP_005252066.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X3

Conserved Domains (2) summary

cd05091
Location:65 → 348

PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2

pfam07714
Location:72 → 345

Pkinase_Tyr; Protein tyrosine kinase

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

103889331..104116677 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363033.1 → XP_054219008.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_054363032.1 → XP_054219007.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_054363030.1 → XP_054219005.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_054363031.1 → XP_054219006.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_054363029.1 → XP_054219004.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X1
XM_054363034.1 → XP_054219009.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X2
XM_054363035.1 → XP_054219010.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform X3