RHBDF2 - rhomboid 5 homolog 2 Gene

Homo sapiens

Also known as TEC; TOC; TOCG; RHBDL5; RHBDL6; iRhom2

Gene ID: 79651 | Gene type: protein coding

About RHBDF2

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,470,893-76,501,427 (from NCBI)

This gene has 20 transcripts (splice variants), 203 orthologues, 5 paralogues and is associated with 4 phenotypes. Broad expression in spleen (RPKM 8.7), appendix (RPKM 7.3) and 25 other tissues.

Summary

Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Apr 2022]

RHBDF2 Products(5)

mRNA	Protein	Name
NM_001005498.4	NP_001005498.2	inactive rhomboid protein 2 isoform 2
NM_001376228.1	NP_001363157.1	inactive rhomboid protein 2 isoform 2
NM_001376229.1	NP_001363158.1	inactive rhomboid protein 2 isoform 2
NM_001376230.1	NP_001363159.1	inactive rhomboid protein 2 isoform 2
NM_024599.5	NP_078875.4	inactive rhomboid protein 2 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29897333	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	22265016	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RHBDF2 Protein Structure

Rhomboid_SP

Rhomboid

0
200
400
600
800
856 a.a.

Protein Preferred Names

Protein Names

inactive rhomboid protein 2

rhomboid family member 2

Related Diseases

Diseases

Alias

Tylosis With Esophageal Cancer

Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	TOC
Keratosis Palmaris Et Plantaris With Esophageal Cancer	Bennion-Patterson Syndrome
Howell-Evans Syndrome	Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome
Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome	Tylosis-Oesophageal Carcinoma Syndrome
Palmoplantar Keratoderma With Esophageal Cancer	Howel-Evans Syndrome
Keratosis Palmoplantaris With Esophageal Cancer	Tylosis - Oesophageal Carcinoma
Howel-Evans' Syndrome

Diffuse Palmoplantar Keratoderma

Diffuse Palmoplantar Hyperkeratosis	Diffuse Ppk
Diffuse Keratosis Palmoplantaris

Colorectal Cancer, Hereditary Nonpolyposis, Type 4

HNPCC4	Hereditary Nonpolyposis Colorectal Cancer Type 4
Hereditary Non-Polyposis Colorectal Cancer 4	Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4

Esophageal Cancer

Esophageal Carcinoma	Carcinoma Of Esophagus
Esophageal Squamous Cell Carcinoma, Somatic	Esophageal Carcinoma, Somatic
Esophagus Cancer	Gastric Cardia Adenocarcinoma
Esophageal Neoplasms	Esophageal Cancer, Somatic
Cancer Of Esophagus	Cancer Of Oesophagus
Carcinoma Of Oesophagus	Ca Lower Third Oesophagus
Ca Middle Third Oesophagus	Malignant Neoplasm Of Distal Third Of Esophagus
Malignant Neoplasm Of Lower Third Of Oesophagus	Malignant Neoplasm Of Middle Third Of Oesophagus
Malignant Neoplasm Of Proximal Third Of Esophagus	Malignant Neoplasm Of Upper Third Esophagus
Malignant Tumor Of Abdominal Esophagus	Malignant Tumor Of Distal Third Of Esophagus
Malignant Tumor Of Proximal Third Of Esophagus	Malignant Tumor Of The Middle Third Of The Esophagus
ESCR	Aerodigestive Tract Cancer
Escc	Esophageal Squamous Cell Carcinoma
Cancer, Esophageal	Malignant Neoplasm Of Esophagus
Squamous Cell Carcinoma Of Esophagus	Malignant Neoplasm Of Middle Third Of Esophagus

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Focal Nonepidermolytic Palmoplantar Keratoderma	Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma
FNEPPK1	Ppkfne
Keratoderma, Focal Nonepidermolytic Palmoplantar	Palmoplantar Keratoderma, Nonepidermolytic, Focal
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Fneppk
Focal Nonepidermolytic Palmoplantar Keratoderma 1	Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1

Familial Adenomatous Polyposis 1

Gardner Syndrome	Brain Tumor-Polyposis Syndrome 2
Familial Polyposis Of The Colon	Adenomatous Polyposis Coli
FAP1	Adenomatous Polyposis Of The Colon
Apc	Fpc
Gardner'S Syndrome	Polyposis, Adenomatous Intestinal
Adenoma, Periampullary, Somatic	Intestinal Polyposis, Osteomas, Sebaceous Cysts
Polyposis Coli And Multiple Hard And Soft Tissue Tumors	Apc-Related Attenuated Familial Adenomatous Polyposis
Apc-Related Afap	Apc-Related Attenuated Fap
Apc-Related Attenuated Familial Polyposis Coli	Turcot Syndrome With Polyposis
Gardners Syndrome	Adenomatous Polyposis Coli, Susceptibility To
Adenomatous Polyposis, Familial, Type 1

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

Evans' Syndrome

Evans Syndrome	Autoimmune Hemolytic Anemia And Autoimmune Thrombocytopenia
Evan Syndrome	Immune Pancytopenia
Evan'S Syndrome

Palmoplantar Keratosis

Palmoplantar Keratoderma	Keratosis Palmaris Et Plantaris
Palmo-Plantar Keratodermas	Keratoderma, Palmoplantar
Keratoderma Palmoplantar	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis Of Palms And Soles	Palmoplantar Hyperkeratosis

Gastric Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Stomach

Hyperlipoproteinemia, Type Iii

Hyperlipoproteinemia Type Iii	Broad-Betalipoproteinemia
Floating-Betalipoproteinemia	Familial Type 3 Hyperlipoproteinemia
Broad Beta Disease	Familial Hyperbeta- And Prebetalipoproteinemia
Familial Hypercholesterolemia With Hyperlipemia	Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis
Coronary Artery Disease, Severe, Susceptibility To	Coronary Artery Disease, Severe
Hyperlipidemia Type 3	Familial Dysbetalipoproteinemia
Hyperlipoproteinemia Type 3	Coronary Artery Disease
Apolipoprotein E, Deficiency Or Defect Of	Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D
Carbohydrate Induced Hyperlipemia	Familial Hypercholesterolaemia With Hyperlipaemia
Remnant Hyperlipidemia	Remnant Removal Disease
Dysbetalipoproteinemia	Broad-Beta Disease
Familial Dyslipidemia Type 3	Hlp Type 3
Remnant Hyperlipoproteinemia	Familial Hyperlipoproteinemia Type Iii
CAD	Hyperlipoproteinemia 3
HLPP3	Deficiency Or Defect Of Apolipoprotein E
Dysbetalipoproteinemia Due To Defect In Apolipoprotein E	Coronary Arteriosclerosis
Coronary Heart Disease

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome	Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques
Palmoplantar And Periorificial Keratoderma	Olms

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11935	RHBDF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RHBDF2	VGNC	VGNC:64604
Macaca mulatta	RHBDF2	VGNC	VGNC:76785
Canis familiaris	RHBDF2	VGNC	VGNC:45547
Rattus norvegicus	RHBDF2	RGD	RGD:1309699
Bos taurus	RHBDF2	VGNC	VGNC:33934
Mus musculus	RHBDF2	MGD	MGI:2442473

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