RHBDL2 rhomboid like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RHBDL2provided by HGNC
Official Full Name: rhomboid like 2provided by HGNC
Primary source: HGNC:HGNC:16083
See related: Ensembl:ENSG00000158315 MIM:608962; AllianceGenome:HGNC:16083
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: RRP2
Summary: The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
Expression: Biased expression in colon (RPKM 9.9), skin (RPKM 6.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (38885807..38941830, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (38753038..38809046, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (39351479..39407502, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Interleukin-11 (IL-11) receptor cleavage by the rhomboid protease RHBDL2 induces IL-11 trans-signaling.
Title: Interleukin-11 (IL-11) receptor cleavage by the rhomboid protease RHBDL2 induces IL-11 trans-signaling.
Thrombomodulin and RHBDL2 are upregulated in human HaCaT cells stimulated by scratch wounds; furthermore, increased solulbe thrombomodulin was found in culture medium.
Title: Functions of rhomboid family protease RHBDL2 and thrombomodulin in wound healing.
RHBDL2 cleaves epidermal growth factor just outside its transmembrane domain, thereby facilitating its secretion and triggering activation of the epidermal growth factor receptor.
Title: Mammalian EGF receptor activation by the rhomboid protease RHBDL2.
Observational study of gene-disease association. (HuGE Navigator)
Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
Here, the authors show that RHBDL2 is produced as a proenzyme and that the processing of RHBDL2 is required for its cellular protease activity.
Title: The processing of human rhomboid intramembrane serine protease RHBDL2 is required for its proteolytic activity.
The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3.
Title: Intramembrane cleavage of ephrinB3 by the human rhomboid family protease, RHBDL2.
Substrate specificity of RHBDL2 intramembrane protease is governed by helix-breaking residues in the transmembrane domain.
Title: Substrate specificity of rhomboid intramembrane proteases is governed by helix-breaking residues in the substrate transmembrane domain.

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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

EBI GWAS Catalog

Description
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 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

SHGC-38080 (e-PCR)
- UniSTS:48427

D1S432 (e-PCR)
- UniSTS:52813

D15S1477 (e-PCR)
- UniSTS:474482

D1S1425 (e-PCR)
- UniSTS:149621

RHBDL2_9848 (e-PCR)
- UniSTS:468648

D1S432 (e-PCR)
- UniSTS:44228

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rhomboid-related protein 2

Names: rhomboid (veinlet, Drosophila)-like 2; rhomboid protease 2; rhomboid, veinlet-like 2; rhomboid-like protein 2

NP_001291675.1

EC 3.4.21.105

NP_060291.2

EC 3.4.21.105

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.

mRNA and Protein(s)

NM_001304746.2 → NP_001291675.1 rhomboid-related protein 2 isoform 1

See identical proteins and their annotated locations for NP_001291675.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK294115, AL139260

UniProtKB/TrEMBL

B3KUN4, B7Z1Y9

Conserved Domains (1) summary

pfam01694
Location:194 → 346

Rhomboid; Rhomboid family
NM_017821.5 → NP_060291.2 rhomboid-related protein 2 isoform 2

See identical proteins and their annotated locations for NP_060291.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1, which results in variant 2 using a downstream translation start site compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK294115, AL139260, DB036310

Consensus CDS

CCDS30680.1

UniProtKB/Swiss-Prot

B2RNT3, B9EH75, Q6P175, Q8NER8, Q96E02, Q9NX52

UniProtKB/TrEMBL

B3KUN4

Related

ENSP00000362081.1, ENST00000372990.6

Conserved Domains (1) summary

pfam01694
Location:114 → 265

Rhomboid; Rhomboid family