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RHBDL3 (Rhomboid Like 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is RHBDL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004252 | serine-type endopeptidase activity | IBA | 21873635 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008236 | serine-type peptidase activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
Symbol | External ID(s) | Details |
---|---|---|
BIK | ||
EIF2AK3 | ||
ENSG00000272822 | ||
MEF2B | ||
PAK6 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | RHBDL3 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | RHBDL3 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Rhbdl3 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | RHBDL3 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Rhbdl3 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | RHBDL3 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | RHBDL3 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | RHBDL3 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | RHBDL3 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101732375 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | rhbdl3 33 32 |
|
OneToOne | |
wufb98c11 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | stet 33 32 |
|
ManyToMany | |
rho 33 |
|
ManyToMany | |||
ru 33 |
|
ManyToMany | |||
rho-4 33 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005058 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000029421 | -- | 32,315,970(+) | C/T | intron_variant | |
rs1000101283 | -- | 32,316,807(+) | C/T | intron_variant | |
rs1000147363 | -- | 32,320,096(+) | C/A/T | intron_variant | |
rs1000158746 | -- | 32,319,739(+) | C/T | intron_variant | |
rs1000223452 | -- | 32,279,682(+) | C/T | genic_upstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1456n106 | CNV | deletion | 24896259 |
esv1001216 | CNV | deletion | 20482838 |
esv2238058 | CNV | deletion | 18987734 |
esv2621296 | CNV | insertion | 19546169 |
esv2672269 | CNV | deletion | 23128226 |
esv2715834 | CNV | deletion | 23290073 |
esv2715835 | CNV | deletion | 23290073 |
esv29073 | CNV | gain | 19812545 |
esv3554320 | CNV | deletion | 23714750 |
nsv1115519 | CNV | duplication | 24896259 |
nsv1120336 | CNV | tandem duplication | 24896259 |
nsv1134639 | CNV | deletion | 24896259 |
nsv1140158 | CNV | deletion | 24896259 |
nsv1142215 | CNV | tandem duplication | 24896259 |
nsv1148266 | CNV | deletion | 26484159 |
nsv574692 | CNV | gain | 21841781 |
nsv574693 | CNV | gain | 21841781 |
nsv827949 | CNV | gain | 20364138 |
No disorders were found for RHBDL3 Gene.