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Aliases for RHBDF2 Gene
Aliases for RHBDF2 Gene
External Ids for RHBDF2 Gene
- HGNC: 20788
- Entrez Gene: 79651
- Ensembl: ENSG00000129667
- OMIM: 614404
- UniProtKB: Q6PJF5
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) is a Protein Coding gene. Diseases associated with RHBDF2 include Tylosis With Esophageal Cancer and Palmoplantar Keratoderma, Nonepidermolytic, Focal 1. Gene Ontology (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 Summary for RHBDF2 Gene
-
Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own.
Additional gene information for RHBDF2 Gene
- HGNC(20788)
- Entrez Gene(79651)
- Ensembl(ENSG00000129667)
- OMIM(614404)
- UniProtKB(Q6PJF5)
- Open Targets Platform(ENSG00000129667)
- Monarch Initiative
- Search for RHBDF2 at DataMed
- Search for RHBDF2 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHBDF2 Gene
Genomics for RHBDF2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RHBDF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RHBDF2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHBDF2
- Top Transcription factor binding sites by QIAGEN in the RHBDF2 gene promoter:
-
- Bach1
- HEN1
- Ik-1
- p300
- PPAR-gamma1
- PPAR-gamma2
- Sp1
- STAT1
- STAT1alpha
- STAT1beta
Genomic Locations for RHBDF2 Gene
Genomic Locations for RHBDF2 Gene
- chr17:76,470,891-76,501,790
- (GRCh38/hg38)
- Size:
- 30,900 bases
- Orientation:
- Minus strand
- chr17:74,466,973-74,497,872
- (GRCh37/hg19)
- Size:
- 30,900 bases
- Orientation:
- Minus strand
Genomic View for RHBDF2 Gene
Genes around RHBDF2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
RHBDF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A6NEM3
- A8K801
- Q5U607
- Q5YGQ8
- Q9H6E9
Protein attributes for RHBDF2 Gene
- Size:
- 856 amino acids
- Molecular mass:
- 96686 Da
- Quaternary structure:
-
- Interacts with EGF (By similarity). Interacts (via cytoplasmic N-terminus) with FRMD8/iTAP; this interaction leads to mutual protein stabilization (PubMed:29897333, PubMed:29897336). Interacts with ADAM17/TACE (PubMed:29897333, PubMed:29897336).
- SequenceCaution:
-
- Sequence=AAH35829.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15310.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for RHBDF2 Gene
Post-translational modifications for RHBDF2 Gene
Other Protein References for RHBDF2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RHBDF2
- Invitrogen Antibodies for RHBDF2 (AFLGC-RHBDF2)
-
Biorbyt antibodies for RHBDF2
Protein Products
-
OriGene Purified Proteins for RHBDF2
- Search Origene for MassSpec and Protein Over-expression Lysates for RHBDF2
- Origene Custom Protein Services for RHBDF2
- Novus Biologicals lysates for RHBDF2
No data available for DME Specific Peptides for RHBDF2 Gene
Domains & Families for RHBDF2 Gene
Gene Families for RHBDF2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for RHBDF2 Gene
- InterPro:
- Blocks:
-
- Rhomboid-like protein
- ProtoNet:
Suggested Antigen Peptide Sequences for RHBDF2 Gene
- GenScript: Design optimal peptide antigens:
-
- Rhomboid veinlet-like protein 6 (RHDF2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6PJF5- Family:
-
- Belongs to the peptidase S54 family.
Function for RHBDF2 Gene
Molecular function for RHBDF2 Gene
- UniProtKB/Swiss-Prot Function:
- Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own.
Phenotypes From GWAS Catalog for RHBDF2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004252 | NOT serine-type endopeptidase activity | IEA,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 29897333 |
| GO:0019838 | growth factor binding | IEA | -- |
Phenotypes for RHBDF2 Gene
- MGI mutant phenotypes for RHBDF2:
-
inferred from 8 alleles
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- liver/biliary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- pigmentation phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for RHBDF2:
Animal Models for RHBDF2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for RHBDF2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RHBDF2 - Select products 50% OFF >
- * RHBDF2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RHBDF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHBDF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHBDF2
miRNA for RHBDF2 Gene
- miRTarBase miRNAs that target RHBDF2
-
- mmu-miR-181a-5p (MIRT014350)
- hsa-miR-335-5p (MIRT017408)
- hsa-miR-7-5p (MIRT025648)
- hsa-miR-98-5p (MIRT027569)
- hsa-miR-615-3p (MIRT039628)
- hsa-let-7a-5p (MIRT735582)
- hsa-let-7b-5p (MIRT735607)
- hsa-let-7c-5p (MIRT735634)
- hsa-let-7d-5p (MIRT735662)
- hsa-let-7e-5p (MIRT735689)
- hsa-let-7f-5p (MIRT735720)
- hsa-let-7g-5p (MIRT735752)
- hsa-let-7i-5p (MIRT735780)
- hsa-miR-2467-3p (MIRT739297)
- hsa-miR-3125 (MIRT740014)
- hsa-miR-3150b-3p (MIRT740328)
- hsa-miR-3179 (MIRT740749)
- hsa-miR-3202 (MIRT741167)
- hsa-miR-3622b-5p (MIRT741776)
- hsa-miR-3916 (MIRT742910)
- hsa-miR-4253 (MIRT743356)
- hsa-miR-4257 (MIRT743430)
- hsa-miR-4266 (MIRT743515)
- hsa-miR-4436b-3p (MIRT744474)
- hsa-miR-4458 (MIRT744768)
- hsa-miR-4476 (MIRT745048)
- hsa-miR-4500 (MIRT745488)
- hsa-miR-4632-5p (MIRT746283)
- hsa-miR-4688 (MIRT747022)
- hsa-miR-4695-5p (MIRT747201)
- hsa-miR-4779 (MIRT748760)
- hsa-miR-4784 (MIRT748845)
- hsa-miR-583 (MIRT751534)
- hsa-miR-6735-5p (MIRT754186)
- hsa-miR-6743-5p (MIRT754422)
- hsa-miR-6859-5p (MIRT757830)
- hsa-miR-6862-5p (MIRT757892)
- hsa-miR-6876-5p (MIRT758158)
- hsa-miR-6879-5p (MIRT758275)
- hsa-miR-765 (MIRT759585)
- hsa-miR-7843-5p (MIRT759775)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHBDF2
- Browse OriGene Inhibitory RNA Products For RHBDF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDF2
Clone Products
- Applied Biological Materials (abm): Clones for RHBDF2 - Select products 50% OFF >
- * RHBDF2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210845
- MG217948
- MR210845
- MR210845L3
- MR210845L4
- MR217948
- MR217948L3
- MR217948L4
- RC203923
- RC203923L1
- RC203923L2
- RC203923L3
- RC203923L4
- RC214964
- RC214964L3
- RC214964L4
- RG203923
- RG214964
- RR206475
- RR206475L3
- RR206475L4
- RR217240
- MR210845L3V
- MR210845L4V
- MR217948L3V
- MR217948L4V
- RC203923L1V
- RC203923L2V
- RC203923L3V
- RC203923L4V
- RC214964L3V
- RC214964L4V
- RR206475L3V
- RR206475L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RHBDF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHBDF2
Cell Line Products
-
Horizon Cell Lines for RHBDF2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IBA,ISS | -- |
| GO:0005886 | plasma membrane | IEA,IDA | 22265016 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHBDF2 Gene
Pathways & Interactions for RHBDF2 Gene
Interacting Proteins for RHBDF2 Gene
GPS-Prot Interaction Network for RHBDF2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0042058 | regulation of epidermal growth factor receptor signaling pathway | IBA | 21873635 |
| GO:0050708 | regulation of protein secretion | IBA | 21873635 |
| GO:0050709 | negative regulation of protein secretion | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for RHBDF2 Gene
Drugs & Compounds for RHBDF2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Fentanyl | Approved, Illicit, Investigational, Vet_approved | Pharma | Agonist, Full agonist, Partial agonist | 1229 | ||
| Morphine | Approved, Investigational | Pharma | Agonist, Full agonist, Partial agonist | 1406 | ||
| Oxycodone | Approved, Illicit, Investigational | Pharma | 507 | |||
| opioids | Pharma | 0 |
Transcripts for RHBDF2 Gene
mRNA/cDNA for RHBDF2 Gene
- 5 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000313080 3582 nts (view in UCSC)
- ENST00000585701 572 nts (view in UCSC)
- ENST00000585989 568 nts (view in UCSC)
- ENST00000587640 2097 nts (view in UCSC)
- ENST00000589526 629 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RHBDF2 - Select products 50% OFF >
- * RHBDF2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RHBDF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHBDF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHBDF2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHBDF2
- Browse OriGene Inhibitory RNA Products For RHBDF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDF2
Clone Products
- Applied Biological Materials (abm): Clones for RHBDF2 - Select products 50% OFF >
- * RHBDF2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210845
- MG217948
- MR210845
- MR210845L3
- MR210845L4
- MR217948
- MR217948L3
- MR217948L4
- RC203923
- RC203923L1
- RC203923L2
- RC203923L3
- RC203923L4
- RC214964
- RC214964L3
- RC214964L4
- RG203923
- RG214964
- RR206475
- RR206475L3
- RR206475L4
- RR217240
- MR210845L3V
- MR210845L4V
- MR217948L3V
- MR217948L4V
- RC203923L1V
- RC203923L2V
- RC203923L3V
- RC203923L4V
- RC214964L3V
- RC214964L4V
- RR206475L3V
- RR206475L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RHBDF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHBDF2
| 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
Expression for RHBDF2 Gene
mRNA differential expression in normal tissues according to GTEx for RHBDF2 Gene
This gene is overexpressed in Whole Blood (x7.7).
This gene is overexpressed in Peripheral blood mononuclear cells (24.5), Lung (21.6), and Liver, secretome (12.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RHBDF2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHBDF2
SOURCE GeneReport for Unigene cluster for RHBDF2 Gene:
Hs.464157mRNA Expression by UniProt/SwissProt for RHBDF2 Gene:
Q6PJF5-RHDF2_HUMAN
Tissue specificity:
Found in the epidermis and esophageal epithelium.
Evidence on tissue expression from TISSUES for RHBDF2 Gene
- Kidney(4.4)
- Spleen(4.4)
- Liver(4.3)
- Eye(4.1)
- Skin(2.3)
- Nervous system(2.3)
- Intestine(2.1)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RHBDF2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- ear
- head
- mouth
Thorax:
- esophagus
- heart
- heart valve
Abdomen:
- abdominal wall
- intestine
- large intestine
- liver
- small intestine
- stomach
Limb:
- foot
- hand
- lower limb
- upper limb
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for RHBDF2
-
OriGene qPCR primer pairs and template standards for RHBDF2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for RHBDF2 Gene
Orthologs for RHBDF2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RHBDF2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RHBDF2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RHBDF2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rhbdf2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rhbdf2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | RHBDF2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RHBDF2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RHBDF2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RHBDF2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rhbdf2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-218l14.9 31 |
|
ManyToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | rho-5 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | rom-4 30 31 |
|
ManyToMany | |
| rom-3 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for RHBDF2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RHBDF2: view image
Paralogs for RHBDF2 Gene
(2) SIMAP similar genes for RHBDF2 Gene using alignment to 11 proteins:
- RHDF2_HUMAN
- K7EIY3_HUMAN
- K7EJ10_HUMAN
- K7EJD6_HUMAN
- K7EKA3_HUMAN
- K7EKI1_HUMAN
- K7ELA9_HUMAN
- K7EPN8_HUMAN
- K7EPV3_HUMAN
- K7EQ53_HUMAN
- K7EQT5_HUMAN
Variants for RHBDF2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHBDF2 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 724920 | Likely Benign: not provided | 76,479,723(-) | G/A | INTRON_VARIANT | |
| 727540 | Likely Benign: not provided | 76,475,114(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 734961 | Likely Benign: not provided | 76,474,098(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 745825 | Likely Benign: not provided | 76,472,788(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 777223 | Likely Benign: not provided | 76,479,158(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Residual Variation Intolerance Score:
45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.99;
68.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RHBDF2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDF2 Gene
Disorders for RHBDF2 Gene
(9) MalaCards diseases for RHBDF2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tylosis with esophageal cancer |
|
|
| palmoplantar keratoderma, nonepidermolytic, focal 1 |
|
|
| esophageal cancer |
|
|
| diffuse palmoplantar keratoderma |
|
|
| palmoplantar keratoderma, nonepidermolytic |
|
|
Search RHBDF2 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for RHBDF2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for RHBDF2 Gene
Publications for RHBDF2 Gene
- RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. (PMID: 22265016) Blaydon DC … Kelsell DP (American journal of human genetics 2012) 2 3 4
- FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex. (PMID: 29897336) Künzel U … Freeman M (eLife 2018) 3 4
- iTAP, a novel iRhom interactor, controls TNF secretion by policing the stability of iRhom/TACE. (PMID: 29897333) Oikonomidi I … Adrain C (eLife 2018) 3 4
- 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 SD … DREAM investigators (Diabetes care 2010) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for RHBDF2 Gene
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Sources for RHBDF2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
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- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
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