Property Summary

NCBI Gene PubMed Count 12
PubMed Score 5.89
PubTator Score 10.98

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count
Menopause present (finding) 20
Disease Target Count P-value
non-small cell lung carcinoma 413 1.01520740333418E-30
lung adenocarcinoma 2714 1.15312619053666E-9
pancreatic cancer 2300 5.87499850946994E-7
psoriasis 6685 1.04356027870571E-6
interstitial cystitis 2299 2.83437296901796E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00294099889484861
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00423692606673992
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0251616067513121
spina bifida 1064 0.0302638027696879
oligodendroglioma 2849 0.0365450665565654
astrocytic glioma 2241 0.0381815985362646
osteosarcoma 7933 0.044609356832019
ependymoma 2514 0.0483651277936084


  Differential Expression (13)


Accession Q9NX52 B2RNT3 B9EH75 Q6P175 Q8NER8 Q96E02 RRP2
Symbols RRP2


PANTHER Protein Class (3)

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

 GWAS Trait (1)

Gene RIF (6)

21833011 Thrombomodulin and RHBDL2 are upregulated in human HaCaT cells stimulated by scratch wounds; furthermore, increased solulbe thrombomodulin was found in culture medium.
21494248 RHBDL2 cleaves epidermal growth factor just outside its transmembrane domain, thereby facilitating its secretion and triggering activation of the epidermal growth factor receptor.
20080650 Observational study of gene-disease association. (HuGE Navigator)
19850051 Here, the authors show that RHBDL2 is produced as a proenzyme and that the processing of RHBDL2 is required for its cellular protease activity.
15047175 The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3.
12820957 Substrate specificity of RHBDL2 intramembrane protease is governed by helix-breaking residues in the transmembrane domain.

AA Sequence

AIAAYLACVLFAVFFNIFLSPAN                                                   281 - 303

Text Mined References (12)

PMID Year Title
22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
21833011 2011 Functions of rhomboid family protease RHBDL2 and thrombomodulin in wound healing.
21494248 2011 Mammalian EGF receptor activation by the rhomboid protease RHBDL2.
20080650 2010 Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
19850051 2009 The processing of human rhomboid intramembrane serine protease RHBDL2 is required for its proteolytic activity.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15047175 2004 Intramembrane cleavage of ephrinB3 by the human rhomboid family protease, RHBDL2.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12820957 2003 Substrate specificity of rhomboid intramembrane proteases is governed by helix-breaking residues in the substrate transmembrane domain.