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AGBL2 (ATP/GTP Binding Protein Like 2) is a Protein Coding gene. Diseases associated with AGBL2 include Cataract 31, Multiple Types and Cardiofaciocutaneous Syndrome 2. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is AGBL3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004180 | carboxypeptidase activity | IEA | -- |
GO:0004181 | metallocarboxypeptidase activity | IEA,ISS | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA | -- |
GO:0008270 | zinc ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005814 | centriole | IEA,IDA | 23085998 |
GO:0005829 | cytosol | ISS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0036064 | ciliary basal body | IDA | 23085998 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0035610 | protein side chain deglutamylation | ISS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - |
ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | |||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AGBL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AGBL2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Agbl2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Agbl2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AGBL2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AGBL2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AGBL2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AGBL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | agbl2 30 |
|
||
Str.18052 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | agbl2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | NnaD 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712078 | Likely Benign: not provided | 47,704,575(-) | C/T | MISSENSE_VARIANT | |
734159 | Likely Benign: not provided | 47,660,210(-) | G/A | MISSENSE_VARIANT | |
734243 | Likely Benign: not provided | 47,710,411(-) | C/G | MISSENSE_VARIANT | |
737984 | Likely Benign: not provided | 47,677,261(-) | T/C | INTRON_VARIANT | |
761860 | Benign: not provided | 47,690,227(-) | CA/C | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
cataract 31, multiple types |
|
|
cardiofaciocutaneous syndrome 2 |
|
|
crest syndrome |
|
|
hemolytic uremic syndrome, atypical 1 |
|
|
joubert syndrome 3 |
|
|