| Type | Description |
|---|---|
| Definition | glucosidase II alpha subunit |
| Date | Results | Publications |
|---|---|---|
| 2019-03-30 12:01:00 | a novel intronic nine base pair deletion in the vicinity of the GANAB exon 24 splice donor, is reported. | 29243290 |
| 2018-06-23 10:35:00 | Case Report: GANAB mutation leading to autosomal dominant polycystic kidney disease. | 28784653 |
| 2017-09-16 10:34:00 | used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum. | 28375157 |
| 2017-05-13 22:32:00 | Mutations in GANAB gene is associated with Autosomal-Dominant Polycystic Kidney and Liver Disease. | 27259053 |
| 2014-04-12 11:27:00 | The high frequency of glucosidase II overexpression, which to the best of our knowledge has not been previously described, indicates its crucial roles in lung tumorigenesis and is thus a valuable biomarker | 24008518 |
| Type | IDs |
|---|---|
| Synonymous | G2AN, GIIA, GLUII, PKD3 |
| Gene |
UniProtKB-ID:
GANAB_HUMAN,
V9HWJ0_HUMAN,
B4DIW2_HUMAN,
E9PKU7_HUMAN,
F5H6X6_HUMAN,
B4DZ53_HUMAN,
B4DSM6_HUMAN
UniprotKB:
Q14697,
V9HWJ0,
B4DIW2,
E9PKU7,
F5H6X6,
B4DZ53,
B4DSM6
UniParc:
UPI0001E5E838,
UPI00003B258F,
UPI00017A72B4,
UPI00017A7BBB,
UPI00017A8487,
UPI0000052BE8,
UPI000013D62E,
UPI0001F77AD6
EMBL:
AJ000332,
AK302752,
D42041,
AP001458,
BC065266,
AK295806,
EU794613,
AF144074,
AK299819,
BC017433,
BC017435
Ensembl:
ENSG00000089597
KO:
hsa:23193
|
| Nucleutide sequences |
EMBL-CDS:
AAF66685.1,
CAA04006.1,
BAA07642.1,
AAH17435.2,
AAH65266.1,
AAH17433.2,
ACJ13667.1,
BAG58624.1,
BAG63965.1,
BAG61688.1
Ensembl_TRS:
ENST00000534613,
ENST00000532402,
ENST00000526210,
ENST00000346178,
ENST00000356638,
ENST00000534779,
ENST00000540933,
ENST00000648273
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000433799,
ENSP00000434921,
ENSP00000340466,
ENSP00000349053,
ENSP00000432181,
ENSP00000435306,
ENSP00000442962,
ENSP00000497655
RefSeq:
NP_001316154.1,
NP_001265121.1,
NP_938148.1,
NP_001316151.1,
NP_001265122.1,
NP_001316152.1,
NP_001316153.1,
NP_938149.2,
NP_001265123.1,
XP_016872901.1
|
| Others |
UniRef100:
UniRef100_Q14697,
UniRef100_B4DIW2,
UniRef100_B4DSM6,
UniRef100_B4DZ53,
UniRef100_E9PKU7,
UniRef100_F5H6X6
UniRef90:
UniRef90_Q14697-2,
UniRef90_Q14697
UniRef50:
UniRef50_Q14697-2,
UniRef50_Q14697
UniGene:
Hs.595071
CCDS:
CCDS8026.1,
CCDS41656.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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