| Type | Description |
|---|---|
| Definition | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:34:00 | Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review. | 33198675 |
| 2020-11-21 13:25:00 | Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype. | 31985472 |
| 2020-08-01 12:15:00 | Results indicate that the GNE gene may be associated with autism spectrum disorder, and it is also related to autistic behavioral performance, such as stereotypical behaviors, autistic mannerisms, and social cognition ability | 32664106 |
| 2019-12-14 10:48:00 | A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. | 30160005 |
| 2019-10-12 12:56:00 | IGF-1R activation may rescue apoptotic cell death of GNE deficient cell lines | 29743626 |
| Type | IDs |
|---|---|
| Synonymous | DMRV, GLCNE, IBM2, NM, Uae1 |
| Gene |
UniProtKB-ID:
GLCNE_HUMAN
UniprotKB:
Q9Y223
UniParc:
UPI00002113D6,
UPI0001D8D940,
UPI0001D8D93F,
UPI0000074037,
UPI00015C306E
EMBL:
AK312539,
AM697708,
AF155663,
BC121179,
AK295562,
AM697709,
EU093084,
AK296687,
AJ238764,
AL158830,
AF317635,
AF051852,
CH471071
Ensembl:
ENSG00000159921
KO:
hsa:10020
|
| Nucleutide sequences |
EMBL-CDS:
BAH12108.1,
BAH12414.1,
EAW58307.1,
BAG35438.1,
CAM91425.1,
AAD32251.1,
AAD38197.1,
CAM91424.1,
AAG31661.1,
ABU55403.1,
AAI21180.1,
EAW58309.1,
CAB42607.1
Ensembl_TRS:
ENST00000396594,
ENST00000539208,
ENST00000543356,
ENST00000539815,
ENST00000642385,
ENST00000447283
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000439155,
ENSP00000445117,
ENSP00000437765,
ENSP00000494141,
ENSP00000414760,
ENSP00000379839
RefSeq:
NP_001361727.1,
XP_005251391.1,
NP_001177313.1,
NP_001361726.1,
NP_005467.1,
NP_001177312.1,
NP_001121699.1,
XP_016869656.1,
NP_001177317.2
|
| Others |
UniRef100:
UniRef100_Q9Y223
UniRef90:
UniRef90_Q9Y223
UniRef50:
UniRef50_Q9Y223
UniGene:
Hs.5920
CCDS:
CCDS55308.1,
CCDS47965.1,
CCDS55309.1,
CCDS6602.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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