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Aliases for RHBDF2 Gene

Aliases for RHBDF2 Gene

  • Rhomboid 5 Homolog 2 (Drosophila) 2 3
  • IRhom2 3 4 6
  • Rhomboid Veinlet-Like Protein 5 3 4
  • Rhomboid Veinlet-Like Protein 6 3 4
  • Rhomboid Family Member 2 3 4
  • RHBDL6 3 4
  • RHBDL5 3 4
  • TOC 3 6
  • Rhomboid, Veinlet-Like 6 (Drosophila) 2
  • Tylosis With Oesophageal Cancer 2
  • Inactive Rhomboid Protein 2 3
  • Rhomboid 5 Homolog 2 4
  • TOCG 3
  • TEC 3

External Ids for RHBDF2 Gene

Previous HGNC Symbols for RHBDF2 Gene

  • RHBDL6
  • TOC

Previous GeneCards Identifiers for RHBDF2 Gene

  • GC17M071979
  • GC17M074466
  • GC17M069894

Summaries for RHBDF2 Gene

GeneCards Summary for RHBDF2 Gene

RHBDF2 (Rhomboid 5 Homolog 2 (Drosophila)) is a Protein Coding gene. Diseases associated with RHBDF2 include tylosis with esophageal cancer and palmoplantar keratosis. Among its related pathways are PI-3K cascade and PI-3K cascade. GO annotations related to this gene include serine-type endopeptidase activity and growth factor binding. An important paralog of this gene is RHBDF1.

UniProtKB/Swiss-Prot for RHBDF2 Gene

  • Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity).

Gene Wiki entry for RHBDF2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDF2 Gene

Genomics for RHBDF2 Gene

Regulatory Elements for RHBDF2 Gene

Genomic Location for RHBDF2 Gene

Start:
76,470,891 bp from pter
End:
76,501,790 bp from pter
Size:
30,900 bases
Orientation:
Minus strand

Genomic View for RHBDF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHBDF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDF2 Gene

Proteins for RHBDF2 Gene

  • Protein details for RHBDF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PJF5-RHDF2_HUMAN
    Recommended name:
    Inactive rhomboid protein 2
    Protein Accession:
    Q6PJF5
    Secondary Accessions:
    • A6NEM3
    • A8K801
    • Q5U607
    • Q5YGQ8
    • Q9H6E9

    Protein attributes for RHBDF2 Gene

    Size:
    856 amino acids
    Molecular mass:
    96686 Da
    Quaternary structure:
    • Interacts with EGF.
    SequenceCaution:
    • Sequence=AAH35829.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15310.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RHBDF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHBDF2 Gene

Proteomics data for RHBDF2 Gene at MOPED

Post-translational modifications for RHBDF2 Gene

  • Ubiquitination at Lys337
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RHBDF2 Gene

Domains for RHBDF2 Gene

Protein Domains for RHBDF2 Gene

Suggested Antigen Peptide Sequences for RHBDF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PJF5

UniProtKB/Swiss-Prot:

RHDF2_HUMAN :
  • Q6PJF5
Family:
  • Belongs to the peptidase S54 family.
genes like me logo Genes that share domains with RHBDF2: view

No data available for Gene Families for RHBDF2 Gene

Function for RHBDF2 Gene

Molecular function for RHBDF2 Gene

UniProtKB/Swiss-Prot Function: Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity).

Gene Ontology (GO) - Molecular Function for RHBDF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0019838 growth factor binding IEA --
genes like me logo Genes that share ontologies with RHBDF2: view
genes like me logo Genes that share phenotypes with RHBDF2: view

Animal Models for RHBDF2 Gene

MGI Knock Outs for RHBDF2:

miRNA for RHBDF2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RHBDF2 Gene

Localization for RHBDF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHBDF2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RHBDF2 Gene COMPARTMENTS Subcellular localization image for RHBDF2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RHBDF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005886 plasma membrane IDA 22265016
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDF2: view

Pathways for RHBDF2 Gene

genes like me logo Genes that share pathways with RHBDF2: view

Gene Ontology (GO) - Biological Process for RHBDF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0015031 protein transport IEA --
GO:0050709 negative regulation of protein secretion ISS --
genes like me logo Genes that share ontologies with RHBDF2: view

Compounds for RHBDF2 Gene

(4) PharmGKB related drug/compound annotations for RHBDF2 Gene

Drug/compound Annotation
fentanyl CA
morphine CA
opioids CA
oxycodone CA
genes like me logo Genes that share compounds with RHBDF2: view

Transcripts for RHBDF2 Gene

Unigene Clusters for RHBDF2 Gene

Rhomboid 5 homolog 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDF2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a ·
SP1: - - -
SP2: - -
SP3:
SP4: - - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8: - - - - -
SP9: -
SP10:
SP11:
SP12: - -

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c · 21d
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RHBDF2 Gene

GeneLoc Exon Structure for
RHBDF2
ECgene alternative splicing isoforms for
RHBDF2

Expression for RHBDF2 Gene

mRNA expression in normal human tissues for RHBDF2 Gene

mRNA differential expression in normal tissues according to GTEx for RHBDF2 Gene

This gene is overexpressed in Whole Blood (7.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RHBDF2 Gene

SOURCE GeneReport for Unigene cluster for RHBDF2 Gene Hs.464157

mRNA Expression by UniProt/SwissProt for RHBDF2 Gene

Q6PJF5-RHDF2_HUMAN
Tissue specificity: Found in the epidermis and esophageal epithelium.
genes like me logo Genes that share expressions with RHBDF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RHBDF2 Gene

Orthologs for RHBDF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RHBDF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHBDF2 35
  • 99.3 (n)
  • 99.3 (a)
RHBDF2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDF2 35
  • 89.18 (n)
  • 92.28 (a)
RHBDF2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDF2 35
  • 91.53 (n)
  • 95.28 (a)
RHBDF2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdf2 35
  • 88.24 (n)
  • 92.12 (a)
Rhbdf2 16
Rhbdf2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHBDF2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDF2 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdf2 35
  • 87.5 (n)
  • 90.53 (a)
chicken
(Gallus gallus)
Aves RHBDF2 35
  • 77.71 (n)
  • 78.4 (a)
RHBDF2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHBDF2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdf2 35
  • 71.91 (n)
  • 75.55 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-218l14.9 36
  • 54 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta rho-5 36
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rom-3 36
  • 21 (a)
ManyToMany
rom-4 35
  • 50.23 (n)
  • 42.82 (a)
rom-4 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
Species with no ortholog for RHBDF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHBDF2 Gene

ENSEMBL:
Gene Tree for RHBDF2 (if available)
TreeFam:
Gene Tree for RHBDF2 (if available)

Paralogs for RHBDF2 Gene

Paralogs for RHBDF2 Gene

genes like me logo Genes that share paralogs with RHBDF2: view

Variants for RHBDF2 Gene

Sequence variations from dbSNP and Humsavar for RHBDF2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs8150 -- 76,470,935(-) TTGTA(C/G)GGACG utr-variant-3-prime
rs885140 -- 76,483,732(-) CACGC(A/G)GTGTA intron-variant
rs920941 -- 76,480,947(-) AGATC(A/G)GTGTT intron-variant
rs1075663 -- 76,492,740(+) CTGGG(A/C)TCTAT intron-variant
rs1992666 -- 76,496,147(+) TGCCC(C/T)ACCAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RHBDF2 Gene

Variant ID Type Subtype PubMed ID
nsv833549 CNV Gain 17160897
nsv525148 CNV Loss 19592680
nsv908831 CNV Loss 21882294

Relevant External Links for RHBDF2 Gene

HapMap Linkage Disequilibrium report
RHBDF2
Human Gene Mutation Database (HGMD)
RHBDF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDF2 Gene

Disorders for RHBDF2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for RHBDF2 Gene including...

Search for RHBDF2 Gene in MalaCards »

(1) OMIM Diseases for RHBDF2 Gene (614404)

UniProtKB/Swiss-Prot

RHDF2_HUMAN
  • Tylosis with esophageal cancer (TOC) [MIM:148500]: An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer. {ECO:0000269 PubMed:22265016}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for RHBDF2 Gene

Relevant External Links for RHBDF2

Genetic Association Database (GAD)
RHBDF2
Human Genome Epidemiology (HuGE) Navigator
RHBDF2
genes like me logo Genes that share disorders with RHBDF2: view

Publications for RHBDF2 Gene

  1. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. (PMID: 22265016) Blaydon D.C. … Kelsell D.P. (Am. J. Hum. Genet. 2012) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for RHBDF2 Gene

Sources for RHBDF2 Gene

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