| Type | Description |
|---|---|
| Definition | pantothenate kinase 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:56:00 | Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos. | 30141000 |
| 2019-11-09 12:10:00 | A novel PANK2 mutation was identified in South East Asian population in Thailand with pantothenate kinase associated neurodegeneration. | 31088771 |
| 2019-02-02 10:08:00 | Study identified c.1069C > T missense variation (rs753376100) in exon 3 of PANK2 gene associated with Pantothenate kinase-associated Neurodegeneration that had segregated in the family in an autosomal recessive mode. The clinical phenotype was found to be concordant with classic in terms of the age of onset, symptoms and radiological findings. The variant amino acid was mapped within the catalytic site. | 28680084 |
| 2018-10-20 10:38:00 | We found c.966 G>T (p.Glu322Asp) mutation in the PANK2 gene mutation analysis in the individuals from the brain imaging findings. Although individuals in this family who had a homozygous mutation in PANK2 gene analyses had the 'eye-of-the-tiger' sign and atypical disease, they were noted to have differing clinical findings. | 30226968 |
| 2018-07-23 13:18:00 | Results from a study on gene expression variability markers in early-stage human embryos shows that PANK2 is a putative expression variability marker for the 3-day, 8-cell embryo stage. | 26288249 |
| Type | IDs |
|---|---|
| Synonymous | C20orf48, HARP, HSS, NBIA1, PKAN |
| Gene |
UniProtKB-ID:
PANK2_HUMAN,
D3DVZ1_HUMAN,
Q6P1K9_HUMAN
UniprotKB:
Q9BZ23,
D3DVZ1,
Q6P1K9
UniParc:
UPI000013D35E,
UPI0000070F3B,
UPI000013FE09,
UPI0000232A4D,
UPI00001D9649,
UPI000036701A
EMBL:
AF494409,
BC065019,
BK000010,
AL353194,
EU595875,
AL713654,
AL031670,
AK097796,
AK021791,
CH471133
Ensembl:
ENSG00000125779
KO:
hsa:80025
|
| Nucleutide sequences |
EMBL-CDS:
ACD11492.1,
EAX10476.1,
BAC05173.1,
CAD28463.1,
AAN32907.1,
BAB13897.1,
EAX10478.1,
DAA00004.1,
EAX10475.1,
EAX10473.1,
AAH65019.1
Gene_ORFName:
hCG_39342
Ensembl_TRS:
ENST00000497424,
ENST00000316562,
ENST00000610179,
ENST00000621507
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000477429,
ENSP00000313377,
ENSP00000417609,
ENSP00000481523
RefSeq:
NP_001311121.1,
NP_001311122.1,
NP_001311120.1,
NP_705904.1,
NP_079236.3,
NP_001373322.1,
NP_705902.2
|
| Others |
UniRef100:
UniRef100_Q9BZ23,
UniRef100_Q6P1K9,
UniRef100_D3DVZ1
UniRef90:
UniRef90_Q6P1K9,
UniRef90_D3DVZ1,
UniRef90_Q9BZ23
UniRef50:
UniRef50_Q9BZ23,
UniRef50_D3DVZ1,
UniRef50_Q3TIG7
UniGene:
Hs.516859
CCDS:
CCDS13071.2,
CCDS13072.1
|
| {{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