| Type | Description |
|---|---|
| Definition | adenosine monophosphate deaminase 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:26:00 | Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. | 31833174 |
| 2019-06-23 19:00:00 | These data demonstrate a novel mechanism in Systemic lupus erythematosus development that involves the targeting of AMPD2 expression by NovelmiRNA-25. | 30577810 |
| 2019-05-25 10:46:00 | Data suggest that adenosine monophosphate deaminase 2 (AMPD2) may serve as a biomarker for outcome prediction in undifferentiated pleomorphic sarcoma (UPS). | 30267407 |
| 2019-02-16 10:52:00 | The existence of various AMPD2 isoforms with different functions possibly explains the variability in phenotypes associated with AMPD2 variants: variants leaving some of the isoforms intact may cause spastic paraplegia type 63 , while those affecting all isoforms may result in the severe and early-onset Pontocerebellar hypoplasia type 9. | 29463858 |
| 2017-12-02 11:01:00 | Here we report the clinical and genetic analysis of an individual with PCH9 secondary to a novel missense variant with strong evidence of pathogenicity, located outside the catalytic domain of AMPD2 | 28168832 |
| Type | IDs |
|---|---|
| Synonymous | PCH9, SPG63 |
| Gene |
UniProtKB-ID:
AMPD2_HUMAN,
B2RB47_HUMAN
UniprotKB:
Q01433,
B2RB47
UniParc:
UPI0001750761,
UPI000002A3A3,
UPI0001F783B9,
UPI000002A3A4,
UPI0000125956,
UPI000002A3A5
EMBL:
U16271,
U16272,
M91029,
BC075844,
U16270,
AK314494,
S47833,
AL355310,
U16268,
AK302939,
BC007711,
U16269,
AK296394,
U16267,
CH471122
Ensembl:
ENSG00000116337
KO:
hsa:271
|
| Nucleutide sequences |
EMBL-CDS:
AAB06511.1,
AAH75844.1,
AAD56303.1,
AAC50308.1,
AAD56302.1,
BAG64097.1,
AAA62127.1,
BAG59062.1,
AAC50307.1,
EAW56399.1,
AAA62126.1,
AAC50309.2,
AAC50306.1,
EAW56401.1,
AAA11725.1,
AAH07711.1,
EAW56396.1,
BAG37094.1
Ensembl_TRS:
ENST00000342115,
ENST00000667949,
ENST00000528454,
ENST00000358729
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000437164,
ENSP00000351573,
ENSP00000499465,
ENSP00000345498
RefSeq:
NP_001355738.1,
NP_631895.1,
NP_001244289.1,
NP_004028.4,
XP_024302200.1,
XP_024302199.1,
NP_001295099.1,
NP_001244290.1
|
| Others |
UniRef100:
UniRef100_B2RB47,
UniRef100_Q01433
UniRef90:
UniRef90_Q01433
UniRef50:
UniRef50_Q01433
UniGene:
Hs.82927
CCDS:
CCDS804.1,
CCDS58016.1,
CCDS76186.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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