Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54933
Gene name	Rhomboid like 2
Gene symbol	RHBDL2
Synonyms (NCBI Gene)	RRP2
Chromosome	1
Chromosome location	1p34.3
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 t

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022548	hsa-miR-124-3p	Microarray	18668037
MIRT607807	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636273	hsa-miR-1281	HITS-CLIP	23824327
MIRT607805	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT607804	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT607803	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT607802	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT607801	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636272	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT607793	hsa-miR-4284	HITS-CLIP	23824327
MIRT607807	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636273	hsa-miR-1281	HITS-CLIP	23824327
MIRT607805	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT607804	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT607803	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT607802	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT607801	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636272	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT607793	hsa-miR-4284	HITS-CLIP	23824327
MIRT607808	hsa-miR-500b-3p	HITS-CLIP	24906430
MIRT607807	hsa-miR-6890-3p	HITS-CLIP	24906430
MIRT607806	hsa-miR-5693	HITS-CLIP	24906430
MIRT607805	hsa-miR-6741-3p	HITS-CLIP	24906430
MIRT607804	hsa-miR-1304-3p	HITS-CLIP	24906430
MIRT607803	hsa-miR-1307-3p	HITS-CLIP	24906430
MIRT607802	hsa-miR-4638-5p	HITS-CLIP	24906430
MIRT607801	hsa-miR-4772-3p	HITS-CLIP	24906430
MIRT607800	hsa-miR-6773-3p	HITS-CLIP	24906430
MIRT607799	hsa-miR-215-3p	HITS-CLIP	24906430
MIRT607798	hsa-miR-6499-3p	HITS-CLIP	24906430
MIRT607797	hsa-miR-3135b	HITS-CLIP	24906430
MIRT607796	hsa-miR-504-3p	HITS-CLIP	24906430
MIRT607795	hsa-miR-122-5p	HITS-CLIP	24906430
MIRT607794	hsa-miR-6722-5p	HITS-CLIP	24906430
MIRT607793	hsa-miR-4284	HITS-CLIP	24906430
MIRT607792	hsa-miR-3652	HITS-CLIP	24906430
MIRT607791	hsa-miR-4430	HITS-CLIP	24906430
MIRT607790	hsa-miR-6879-3p	HITS-CLIP	24906430
MIRT607789	hsa-miR-143-5p	HITS-CLIP	24906430
MIRT607788	hsa-miR-5698	HITS-CLIP	24906430
MIRT607807	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636273	hsa-miR-1281	HITS-CLIP	23824327
MIRT607805	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT607804	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT607803	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT607802	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT607801	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636272	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT607793	hsa-miR-4284	HITS-CLIP	23824327
MIRT607807	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636273	hsa-miR-1281	HITS-CLIP	23824327
MIRT607805	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT607804	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT607803	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT607802	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT607801	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636272	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT607793	hsa-miR-4284	HITS-CLIP	23824327
MIRT1304801	hsa-miR-101	CLIP-seq
MIRT1304802	hsa-miR-106a	CLIP-seq
MIRT1304803	hsa-miR-106b	CLIP-seq
MIRT1304804	hsa-miR-125a-3p	CLIP-seq
MIRT1304805	hsa-miR-1279	CLIP-seq
MIRT1304806	hsa-miR-144	CLIP-seq
MIRT1304807	hsa-miR-17	CLIP-seq
MIRT1304808	hsa-miR-1915	CLIP-seq
MIRT1304809	hsa-miR-197	CLIP-seq
MIRT1304810	hsa-miR-20a	CLIP-seq
MIRT1304811	hsa-miR-20b	CLIP-seq
MIRT1304812	hsa-miR-302a	CLIP-seq
MIRT1304813	hsa-miR-302b	CLIP-seq
MIRT1304814	hsa-miR-302c	CLIP-seq
MIRT1304815	hsa-miR-302d	CLIP-seq
MIRT1304816	hsa-miR-302e	CLIP-seq
MIRT1304817	hsa-miR-3127-3p	CLIP-seq
MIRT1304818	hsa-miR-3155	CLIP-seq
MIRT1304819	hsa-miR-3155b	CLIP-seq
MIRT1304820	hsa-miR-3545-3p	CLIP-seq
MIRT1304821	hsa-miR-3653	CLIP-seq
MIRT1304822	hsa-miR-3658	CLIP-seq
MIRT1304823	hsa-miR-3663-5p	CLIP-seq
MIRT1304824	hsa-miR-3667-3p	CLIP-seq
MIRT1304825	hsa-miR-372	CLIP-seq
MIRT1304826	hsa-miR-373	CLIP-seq
MIRT1304827	hsa-miR-376a	CLIP-seq
MIRT1304828	hsa-miR-376b	CLIP-seq
MIRT1304829	hsa-miR-3934	CLIP-seq
MIRT1304830	hsa-miR-4252	CLIP-seq
MIRT1304831	hsa-miR-4310	CLIP-seq
MIRT1304832	hsa-miR-4438	CLIP-seq
MIRT1304833	hsa-miR-4635	CLIP-seq
MIRT1304834	hsa-miR-4680-5p	CLIP-seq
MIRT1304835	hsa-miR-4726-3p	CLIP-seq
MIRT1304836	hsa-miR-4731-5p	CLIP-seq
MIRT1304837	hsa-miR-484	CLIP-seq
MIRT1304838	hsa-miR-498	CLIP-seq
MIRT1304839	hsa-miR-5095	CLIP-seq
MIRT1304840	hsa-miR-5096	CLIP-seq
MIRT1304841	hsa-miR-512-3p	CLIP-seq
MIRT1304842	hsa-miR-519d	CLIP-seq
MIRT1304843	hsa-miR-520a-3p	CLIP-seq
MIRT1304844	hsa-miR-520b	CLIP-seq
MIRT1304845	hsa-miR-520c-3p	CLIP-seq
MIRT1304846	hsa-miR-520d-3p	CLIP-seq
MIRT1304847	hsa-miR-520e	CLIP-seq
MIRT1304848	hsa-miR-520g	CLIP-seq
MIRT1304849	hsa-miR-520h	CLIP-seq
MIRT1304850	hsa-miR-605	CLIP-seq
MIRT1304851	hsa-miR-664	CLIP-seq
MIRT1304852	hsa-miR-764	CLIP-seq
MIRT1304853	hsa-miR-93	CLIP-seq
MIRT2090279	hsa-miR-1307	CLIP-seq
MIRT2090280	hsa-miR-1976	CLIP-seq
MIRT2090281	hsa-miR-4279	CLIP-seq
MIRT2090282	hsa-miR-4722-3p	CLIP-seq
MIRT2090283	hsa-miR-4735-5p	CLIP-seq
MIRT2090284	hsa-miR-4775	CLIP-seq
MIRT2090285	hsa-miR-590-3p	CLIP-seq
MIRT1304802	hsa-miR-106a	CLIP-seq
MIRT1304803	hsa-miR-106b	CLIP-seq
MIRT2315123	hsa-miR-122	CLIP-seq
MIRT2090279	hsa-miR-1307	CLIP-seq
MIRT2315124	hsa-miR-150	CLIP-seq
MIRT1304807	hsa-miR-17	CLIP-seq
MIRT1304808	hsa-miR-1915	CLIP-seq
MIRT1304810	hsa-miR-20a	CLIP-seq
MIRT1304811	hsa-miR-20b	CLIP-seq
MIRT1304812	hsa-miR-302a	CLIP-seq
MIRT1304813	hsa-miR-302b	CLIP-seq
MIRT1304814	hsa-miR-302c	CLIP-seq
MIRT1304815	hsa-miR-302d	CLIP-seq
MIRT1304816	hsa-miR-302e	CLIP-seq
MIRT1304825	hsa-miR-372	CLIP-seq
MIRT1304826	hsa-miR-373	CLIP-seq
MIRT1304830	hsa-miR-4252	CLIP-seq
MIRT2315125	hsa-miR-4269	CLIP-seq
MIRT1304832	hsa-miR-4438	CLIP-seq
MIRT1304835	hsa-miR-4726-3p	CLIP-seq
MIRT2090283	hsa-miR-4735-5p	CLIP-seq
MIRT2090284	hsa-miR-4775	CLIP-seq
MIRT1304838	hsa-miR-498	CLIP-seq
MIRT1304839	hsa-miR-5095	CLIP-seq
MIRT1304841	hsa-miR-512-3p	CLIP-seq
MIRT1304842	hsa-miR-519d	CLIP-seq
MIRT1304843	hsa-miR-520a-3p	CLIP-seq
MIRT1304844	hsa-miR-520b	CLIP-seq
MIRT1304845	hsa-miR-520c-3p	CLIP-seq
MIRT1304846	hsa-miR-520d-3p	CLIP-seq
MIRT1304847	hsa-miR-520e	CLIP-seq
MIRT1304848	hsa-miR-520g	CLIP-seq
MIRT1304849	hsa-miR-520h	CLIP-seq
MIRT2090285	hsa-miR-590-3p	CLIP-seq
MIRT1304853	hsa-miR-93	CLIP-seq
MIRT2315123	hsa-miR-122	CLIP-seq
MIRT2090279	hsa-miR-1307	CLIP-seq
MIRT1304808	hsa-miR-1915	CLIP-seq
MIRT1304835	hsa-miR-4726-3p	CLIP-seq
MIRT1304838	hsa-miR-498	CLIP-seq
MIRT2315123	hsa-miR-122	CLIP-seq
MIRT2090279	hsa-miR-1307	CLIP-seq
MIRT1304808	hsa-miR-1915	CLIP-seq
MIRT2689747	hsa-miR-3199	CLIP-seq
MIRT2315125	hsa-miR-4269	CLIP-seq
MIRT1304832	hsa-miR-4438	CLIP-seq
MIRT1304835	hsa-miR-4726-3p	CLIP-seq
MIRT1304838	hsa-miR-498	CLIP-seq
MIRT1304839	hsa-miR-5095	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	19850051
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA	19850051
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
608962	16083	ENSG00000158315

Q9NX52

Protein name

Rhomboid-related protein 2 (RRP2) (EC 3.4.21.105) (Rhomboid-like protein 2) [Cleaved into: Rhomboid-related protein 2, N-terminal fragment (NTF); Rhomboid-related protein 2, C-terminal fragment (CTF)]

Protein function

Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01694	Rhomboid	114 → 269	Rhomboid family	Family

Sequence

MAAVHDLEMESMNLNMGREMKEELEEEEKMREDGGGKDRAKSKKVHRIVSKWMLPEKSRG
TYLERANCFPPPVFIISISLAELAVFIYYAVWKPQKQWITLDTGILESPFIYSPEKREEA
WRFISYMLVHAGVQHILGNLCMQLVLGIPLEMVHKGLRVGLVYLAGVIAGSLASSIFDPL
RYLVGASGGVYALMGGYFMNVLVNFQEMIPAFGIFRLLIIILIIVLDMGFALYRRFFVPE
DGSPVSFAAHIAGGFAGMSIGYTVFSCFDKALLKDPRFWIAIAAYLACVLFAVFFNIFLS
PAN

Sequence length

303

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Neoplasms	Associate	24185965	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	40668798	★★★★★ ★☆☆☆☆ Found in Text Mining only

RHBDL2 (rhomboid like 2)