| Type | Description |
|---|---|
| Definition | glial cells missing transcription factor 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:22:00 | Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients. | 33471711 |
| 2020-05-09 11:56:00 | Activating GCM2 C-terminal conserved inhibitory domain (CCID) variants (p.V382M and p.Y394S) were identified in six of 396 adenomas (1.52%), and a hyperparathyroidism-associated GCM2 non-CCID activating variant (p.Y282D) was found in 20 adenomas (5.05%). The overall frequency of tested activating GCM2 variants in this study was 6.57%, approximately threefold greater than their frequency in the general population. | 30624640 |
| 2018-04-07 10:46:00 | The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA). | 28609842 |
| 2018-01-06 11:08:00 | GCM2-associated primary hyperparathyroidism patients have greater preoperative parathyroid hormone levels, a greater rate of multigland disease, a lesser rate of biochemical cure | 29108698 |
| 2017-05-20 12:27:00 | Our results demonstrate that germline-activating mutations affecting the C-terminal conserved inhibitory domain of GCM2 can cause familial isolated hyperparathyroidism. | 27745835 |
| Type | IDs |
|---|---|
| Synonymous | GCMB, HRPT4, hGCMb |
| Gene |
UniProtKB-ID:
GCM2_HUMAN
UniprotKB:
O75603
UniParc:
UPI0000073DE7
EMBL:
BC069603,
AL024498,
AF091149,
BC117318,
AL357497,
FJ655849,
AF079550,
CH471087,
BC117316
Ensembl:
ENSG00000124827
KO:
hsa:9247
|
| Nucleutide sequences |
EMBL-CDS:
EAW55287.1,
AAH69603.1,
AAC33792.1,
AAI17317.1,
ACV69998.1,
AAC98097.1,
AAI17319.1
Ensembl_TRS:
ENST00000379491
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000368805
RefSeq:
NP_004743.1
|
| Others |
UniRef100:
UniRef100_O75603
UniRef90:
UniRef90_O75603
UniRef50:
UniRef50_O75603
UniGene:
Hs.227098
CCDS:
CCDS4517.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员