Property Summary

NCBI Gene PubMed Count 12
Grant Count 45
R01 Count 27
Funding $7,994,798.43
PubMed Score 5.89
PubTator Score 10.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Gene RIF (6)

PMID Text
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

MAAVHDLEMESMNLNMGREMKEELEEEEKMREDGGGKDRAKSKKVHRIVSKWMLPEKSRGTYLERANCFP      1 - 70
PPVFIISISLAELAVFIYYAVWKPQKQWITLDTGILESPFIYSPEKREEAWRFISYMLVHAGVQHILGNL     71 - 140
CMQLVLGIPLEMVHKGLRVGLVYLAGVIAGSLASSIFDPLRYLVGASGGVYALMGGYFMNVLVNFQEMIP    141 - 210
AFGIFRLLIIILIIVLDMGFALYRRFFVPEDGSPVSFAAHIAGGFAGMSIGYTVFSCFDKALLKDPRFWI    211 - 280
AIAAYLACVLFAVFFNIFLSPAN                                                   281 - 303
//

Publication (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.
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