ENSMUSG00000020806


Mus musculus

Features
Gene ID: ENSMUSG00000020806
  
Biological name :Rhbdf2
  
Synonyms : Inactive rhomboid protein 2 / Q80WQ6 / Rhbdf2
  
Possible biological names infered from orthology : Q6PJF5 / rhomboid 5 homolog 2
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: E2
Gene start: 116598165
Gene end: 116627019
  
Corresponding Affymetrix probe sets: 10393341 (MoGene1.0st)   1434774_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000099317
Ensembl peptide - ENSMUSP00000099318
NCBI entrez gene - 217344     See in Manteia.
MGI - MGI:2442473
RefSeq - XM_017314494
RefSeq - NM_001167680
RefSeq - NM_172572
RefSeq - XM_006533108
RefSeq Peptide - NP_001161152
RefSeq Peptide - NP_766160
swissprot - Q80WQ6
Ensembl - ENSMUSG00000020806
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 RHBDF2ENSGALG00000001943Gallus gallus
 Q6PJF5ENSG00000129667Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6PIX5 / Rhbdf1 / rhomboid 5 homolog 1 / Q96CC6*ENSMUSG0000002028259


Protein motifs (from Interpro)
Interpro ID Name
 IPR002610  Peptidase S54, rhomboid
 IPR022241  Rhomboid serine protease
 IPR022764  Peptidase S54, rhomboid domain
 IPR035952  Rhomboid-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0042058 regulation of epidermal growth factor receptor signaling pathway IBA
 biological_processGO:0050709 negative regulation of protein secretion IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000410 waved hair "hair or fur having undulations or a sinusoidal shape" [J:47620]
Show

Allelic Composition: Rhbdf2cub/Rhbdf2cub,AregMcub/Areg+
Genetic Background: involves: C57BL/6J * STOCK a us/J * V/LeJ

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000652 enlarged sebaceous gland "increased size of the sebum secreting glands of the hair shaft" [J:30249]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001274 curly vibrissae "whiskers twisted into coils or spirals" [J:47620]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001790 abnormal immune system physiology "deviation from the normal function of the immune system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gde1tm1Crv/Gde1tm1Crv,Napepldtm1Crv/Napepldtm1Crv
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Rhbdf2M3Btlr/Rhbdf2M3Btlr
Genetic Background: C57BL/6J-Rhbdf2M3Btlr

Allelic Composition: Rhbdf2M3Btlr/Rhbdf2+
Genetic Background: C57BL/6J-Rhbdf2M3Btlr

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002412 increased susceptibility to bacterial infection "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0002442 abnormal leukocyte physiology "abnormal function of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes) " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Notch2tm1.1Ecan/Notch2+
Genetic Background: involves: 129 * 129S1/Sv * C57BL/6J

 MP:0002459 abnormal B cell physiology "abnormal function of B lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0002723 abnormal immune serum protein physiology "abnormal concentration or function of circulating immune proteins" [cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0003408 increased width of hypertrophic chondrocyte zone "increased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003691 abnormal microglial cell function "anomalous activity of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Notch2tm1.1Ecan/Notch2+
Genetic Background: involves: 129 * 129S1/Sv * C57BL/6J

 MP:0003809 abnormal hair shaft morphology "irregular or unusual structure of the cuticle, and/or cortex and/or medulla of a hair" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0008554 decreased circulating tumor necrosis factor level "reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf2tm1.1Mfm/Rhbdf2tm1.1Mfm
Genetic Background: B6.129S-Rhbdf2tm1.1Mfm

 MP:0008561 decreased tumor necrosis factor secretion "reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf2tm1.1Mfm/Rhbdf2tm1.1Mfm
Genetic Background: B6.129S-Rhbdf2tm1.1Mfm

Allelic Composition: Rhbdf2m1Btlr/Rhbdf2m1Btlr
Genetic Background: C57BL/6J-Rhbdf2m1Btlr

Allelic Composition: Rhbdf2tm1a(KOMP)Wtsi/Rhbdf2tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6N

Allelic Composition: Rhbdf2m1Btlr/Rhbdf2tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009264 failure of eyelid fusion "the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009273 abnormal hair shaft melanin granule shape "the form of pigment polymers in the hair shaft differs compared to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0009786 decreased susceptibility to infection induced morbidity/mortality "reduced likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0009788 increased susceptibility to bacterial infection induced morbidity/mortality "increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010591 enlarged aortic valve "an increase in the total area occupied by the aortic valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010593 thick aortic valve cusps "an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010600 enlarged pulmonary valve "an increase in the total area occupied by the pulmonary valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010605 thick pulmonary valve cusps "an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010626 thick tricuspid valve cusps 
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010627 enlarged tricuspid valve "an increase in the total area occupied by the tricuspid valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010685 abnormal hair follicle inner root sheath morphology "any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle s layer, Huxley s layer and the inner root sheath cuticle" [PMID:19211055]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: B6.129S-Rhbdf1tm1.1Mfm

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm,Rhbdf2tm1.1Mfm/Rhbdf2tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0020386 adipose tissue inflammation "local accumulation of fluid, plasma proteins, and leukocytes in adipose tissue" [MGI:anna, PMID:24662293, PMID:24695736, PMID:26629401]
Show

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk
Genetic Background: involves: 129/Sv * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr