RHBDF2 - rhomboid 5 homolog 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79651

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
29897333 GOA
Cellular Component GO Annotation Evidence References 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_SP: Rhomboid serine protease (128 - 334)

Rhomboid

Rhomboid: Rhomboid family (651 - 789)

  • 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

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 Set / 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
Others RHBDF2 NCBI