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RHBDD3 (Rhomboid Domain Containing 3) is a Protein Coding gene. Diseases associated with RHBDD3 include Brachial Plexus Lesion and Patellar Tendinitis. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is RHBDD2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004252 | serine-type endopeptidase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | IEA | -- |
GO:0001889 | liver development | IEA | -- |
GO:0002673 | regulation of acute inflammatory response | IEA | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0009410 | response to xenobiotic stimulus | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RHBDD3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RHBDD3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RHBDD3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rhbdd3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rhbdd3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RHBDD3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RHBDD3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RHBDD3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rhbdd3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rhbdd3 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1446100794 | Uncertain Significance: not provided | 29,264,129(-) |
G/A NM_012265.3(RHBDD3):c.238C>T (p.Gln80Ter) |
NONSENSE | |
rs2231397 | - |
p.His227Arg |
|||
rs2272902 | - |
p.Thr86Met |
Disorder | Aliases | PubMed IDs |
---|---|---|
brachial plexus lesion |
|
|
patellar tendinitis |
|
|