| Type | Description |
|---|---|
| Definition | DDHD domain containing 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:31:00 | Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk. | 33462483 |
| 2020-03-21 10:35:00 | The identification of nine novel variants expands the molecular spectrum of DDHD2-related hereditary spastic paraplegia | 31302745 |
| 2019-12-07 10:40:00 | The protective role of DDHD2 for mitochondrial integrity and provide a clue to the pathogenic mechanism of SPG54. | 30038238 |
| 2018-06-02 10:44:00 | A set of HSP-related mutations in DDHD2 disrupt triglyceride hydrolase activity in vitro and impair the capacity of DDHD2 to protect cells from lipid droplet accumulation after exposure to free fatty acid.Genetic inactivation of DDHD2 from HSP-associated mutations perturbs lipid homeostasis and the formation and content of LDs. DDHD2 plays a role in triglyceride metabolism for normal CNS function. | 29278326 |
| 2016-02-20 11:05:00 | Truncating mutation has been found in the DDHD2 gene in a large consanguineous family with hereditary spastic paraplegia and intellectual disability. | 26113134 |
| Type | IDs |
|---|---|
| Synonymous | SAMWD1, SPG54, iPLA(1)gamma |
| Gene |
UniProtKB-ID:
DDHD2_HUMAN,
B3KPM6_HUMAN
UniprotKB:
O94830,
B3KPM6
UniParc:
UPI00001A8353,
UPI0000160E07,
UPI00004173C6
EMBL:
CH471080,
AC087362,
AK127040,
AK125904,
AK056525,
BC010504,
AB018268,
AK023218,
AC084024
Ensembl:
ENSG00000085788
KO:
hsa:23259
|
| Nucleutide sequences |
EMBL-CDS:
BAG54264.1,
BAG54427.1,
BAB14470.1,
BAA34445.1,
EAW63324.1,
AAH10504.1,
BAG51738.1
Ensembl_TRS:
ENST00000517385,
ENST00000520272,
ENST00000397166
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000429017,
ENSP00000429932,
ENSP00000380352
RefSeq:
NP_001157706.1,
NP_001349842.1,
XP_011542758.1,
NP_001349843.1,
NP_056029.2,
NP_001349840.1,
NP_001349841.1,
NP_001157704.1,
XP_016868744.1
|
| Others |
UniRef100:
UniRef100_B3KPM6,
UniRef100_O94830
UniRef90:
UniRef90_G7MZ47,
UniRef90_O94830
UniRef50:
UniRef50_O94830
UniGene:
Hs.434966
CCDS:
CCDS34883.1
|
| {{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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