ROR2

Protein identityUniProt · HPA

UniProt accession

Q01974

Gene

ROR2

Ensembl

ENSG00000169071

Chromosome

9

Canonical length

943 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

943 residues, UniProt reviewed canonical sequence.

>Q01974|ROR2
     1  MARGSALPRR PLLCIPAVWA AAALLLSVSR TSGEVEVLDP NDPLGPLDGQ DGPIPTLKGY
    61  FLNFLEPVNN ITIVQGQTAI LHCKVAGNPP PNVRWLKNDA PVVQEPRRII IRKTEYGSRL
   121  RIQDLDTTDT GYYQCVATNG MKTITATGVL FVRLGPTHSP NHNFQDDYHE DGFCQPYRGI
   181  ACARFIGNRT IYVDSLQMQG EIENRITAAF TMIGTSTHLS DQCSQFAIPS FCHFVFPLCD
   241  ARSRTPKPRE LCRDECEVLE SDLCRQEYTI ARSNPLILMR LQLPKCEALP MPESPDAANC
   301  MRIGIPAERL GRYHQCYNGS GMDYRGTAST TKSGHQCQPW ALQHPHSHHL SSTDFPELGG
   361  GHAYCRNPGG QMEGPWCFTQ NKNVRMELCD VPSCSPRDSS KMGILYILVP SIAIPLVIAC
   421  LFFLVCMCRN KQKASASTPQ RRQLMASPSQ DMEMPLINQH KQAKLKEISL SAVRFMEELG
   481  EDRFGKVYKG HLFGPAPGEQ TQAVAIKTLK DKAEGPLREE FRHEAMLRAR LQHPNVVCLL
   541  GVVTKDQPLS MIFSYCSHGD LHEFLVMRSP HSDVGSTDDD RTVKSALEPP DFVHLVAQIA
   601  AGMEYLSSHH VVHKDLATRN VLVYDKLNVK ISDLGLFREV YAADYYKLLG NSLLPIRWMA
   661  PEAIMYGKFS IDSDIWSYGV VLWEVFSYGL QPYCGYSNQD VVEMIRNRQV LPCPDDCPAW
   721  VYALMIECWN EFPSRRPRFK DIHSRLRAWG NLSNYNSSAQ TSGASNTTQT SSLSTSPVSN
   781  VSNARYVGPK QKAPPFPQPQ FIPMKGQIRP MVPPPQLYVP VNGYQPVPAY GAYLPNFYPV
   841  QIPMQMAPQQ VPPQMVPKPS SHHSGSGSTS TGYVTTAPSN TSMADRAALL SEGADDTQNA
   901  PEDGAQSTVQ EAEEEEEGSV PETELLGDCD TLQVDEAQVQ LEA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ROR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

30 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ROR2.

Disease | AllUniProt

Conditions ROR2 is implicated in, by any mechanism.

• Brachydactyly B1 (BDB1) MIM:113000
• Robinow syndrome, autosomal recessive 1 (RRS1) MIM:268310

Disease | GeneticClinVar

65 pathogenic / likely-pathogenic of 917 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive Robinow syndrome
• Brachydactyly type B1
• Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
• Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.56

gnomAD pLI

0

gnomAD missense Z

0.14

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell surface receptor protein tyrosine kinase signaling pathway
• positive regulation of cell migration
• signal transduction
• Wnt signaling pathway

Molecular functions

• ATP binding
• coreceptor activity
• metal ion binding
• mitogen-activated protein kinase kinase kinase binding
• transmembrane receptor protein tyrosine kinase activity
• Wnt-protein binding

Cellular components

• axon
• clathrin-coated endocytic vesicle membrane
• plasma membrane
• receptor complex

Protein domainsUniProt · Pfam · InterPro

• Kringle
• Protein kinase domain
• Serine-threonine/tyrosine-protein kinase, catalytic domain
• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Tyrosine-protein kinase, active site
• Protein kinase-like domain superfamily
• Immunoglobulin I-set
• Immunoglobulin-like fold
• Kringle-like fold
• Tyrosine-protein kinase, receptor ROR
• Kringle, conserved site
• Frizzled domain
• Immunoglobulin-like domain superfamily
• Frizzled cysteine-rich domain superfamily
• Kringle superfamily
• Receptor Tyrosine Kinase
• Kringle domain
• Fz domain
• Immunoglobulin I-set domain
• Protein tyrosine and serine/threonine kinase

KeywordsUniProt

• ATP-binding
• Cell membrane
• Developmental protein
• Disulfide bond
• Dwarfism
• Glycoprotein
• Immunoglobulin domain
• Kinase
• Kringle
• Magnesium
• Membrane
• Metal-binding
• Methylation
• Nucleotide-binding
• Phosphoprotein
• Receptor
• Signal
• Sulfation
• Transferase
• Transmembrane
• Transmembrane helix
• Tyrosine-protein kinase
• Wnt signaling pathway

InteractionsUniProt · HPA

Protein binding partners of ROR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• WTIP
• TMEM67
• YWHAB
• DAZAP2
• HLA-C
• MSX2
• TAB1