| Type | Description |
|---|---|
| Definition | abhydrolase domain containing 12 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:50:00 | Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. | 32462874 |
| 2020-05-16 10:14:00 | ABHD12 plays a crucial role in cell proliferation, migration, and invasion of breast cancer cells. | 32366405 |
| 2019-06-22 12:01:00 | Findings in Usher Syndrome predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12. | 30974196 |
| 2019-06-01 12:33:00 | ABHD12 is enriched on the endoplasmic reticulum membrane, where most of the very-long-chain fatty acids are biosynthesized in cells. | 30237167 |
| 2018-03-17 10:21:00 | This study presented the various mutation of ABHD12 responsible for PHARC syndrome. | 28448692 |
| Type | IDs |
|---|---|
| Synonymous | ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2 |
| Gene |
UniProtKB-ID:
ABD12_HUMAN,
A0A5F9ZH71_HUMAN
UniprotKB:
Q8N2K0,
A0A5F9ZH71
UniParc:
UPI00017A6CB9,
UPI000013F310,
UPI000006F03A,
UPI0000199FE4
EMBL:
AL353812,
AK075023,
AK293495,
BC014049,
AL117442,
AL121772,
AK290815,
CH471133
Ensembl:
ENSG00000100997
KO:
hsa:26090
|
| Nucleutide sequences |
EMBL-CDS:
BAF83504.1,
BAC11357.1,
BAG56982.1,
AAH14049.1,
EAX10089.1,
CAB55927.1
Ensembl_TRS:
ENST00000376542,
ENST00000339157,
ENST00000672566
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000341408,
ENSP00000365725,
ENSP00000500106
RefSeq:
XP_016883285.1,
NP_001035937.1,
NP_056415.1,
XP_011527516.1,
XP_016883286.1
|
| Others |
UniRef100:
UniRef100_Q8N2K0
UniRef90:
UniRef90_Q8N2K0
UniRef50:
UniRef50_Q8N2K0
UniGene:
Hs.441550
CCDS:
CCDS42857.1,
CCDS13172.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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