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RHBDF2 (Rhomboid 5 Homolog 2) is a Protein Coding gene. Diseases associated with RHBDF2 include Tylosis With Esophageal Cancer and Esophageal Cancer. 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.
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 | -- |
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 | -- |
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 | -- |
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: |
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 |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
888632 | Benign: Palmoplantar keratoderma-esophageal carcinoma syndrome | 76,470,930(-) |
C/T NM_001005498.4(RHBDF2):c.*703G>A |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
888633 | Uncertain Significance: Palmoplantar keratoderma-esophageal carcinoma syndrome | 76,471,027(-) |
G/A NM_001005498.4(RHBDF2):c.*606C>T |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
888634 | Uncertain Significance: Palmoplantar keratoderma-esophageal carcinoma syndrome | 76,471,043(-) |
G/A NM_001005498.4(RHBDF2):c.*590C>T |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
888693 | Uncertain Significance: Palmoplantar keratoderma-esophageal carcinoma syndrome | 76,472,029(-) |
G/A NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
888694 | Benign: Palmoplantar keratoderma-esophageal carcinoma syndrome | 76,472,679(-) |
T/C NM_001005498.4(RHBDF2):c.2064+7A>G |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
tylosis with esophageal cancer |
|
|
esophageal cancer |
|
|
diffuse palmoplantar keratoderma |
|
|
palmoplantar keratoderma, nonepidermolytic |
|
|
mutilating palmoplantar keratoderma with periorificial keratotic plaques |
|
|