| Type | Description |
|---|---|
| Definition | EF-hand domain containing 2 |
| Date | Results | Publications |
|---|---|---|
| 2018-08-04 12:05:00 | Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of Norrie disease.Based on the case of our observation, contiguous deletion with only one of the MAO genes (MAOB) may not cause psychomotor disability, and deletion of EFHC2may not contribute to epilepsy. | 29321361 |
| 2017-03-11 10:49:00 | In our series of 96 IGE patients and 96 healthy controls, there was no relation between S430Y polymorphism in EFHC2 gene and IGE presence. | 26958022 |
| 2016-04-30 11:24:00 | EFHC2 variation at SNP rs7055196 is associated with social cognitive abilities in males | 26107779 |
| 2010-01-21 00:00:00 | EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism. | 17164267 |
| 2010-01-21 00:00:00 | An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in juvenile myoclonic epilepsy maternal inheritance of juvenile myoclonic epilepsy. | 16112844 |
| Type | IDs |
|---|---|
| Synonymous | MRX74, dJ1158H2.1 |
| Gene |
UniProtKB-ID:
EFHC2_HUMAN
UniprotKB:
Q5JST6
UniParc:
UPI00000717F2,
UPI0000211EE5
EMBL:
AL359744,
AC018719,
BC031039,
CR749363,
AL133344,
AK026254
Ensembl:
ENSG00000183690
KO:
hsa:80258
|
| Nucleutide sequences |
EMBL-CDS:
CAH18216.1,
AAH31039.1,
BAB15413.1
Ensembl_TRS:
ENST00000420999
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000404232
RefSeq:
XP_006724625.1,
NP_079460.2,
XP_024308221.1
|
| Others |
UniRef100:
UniRef100_Q5JST6
UniRef90:
UniRef90_Q5JST6
UniRef50:
UniRef50_Q5JST6
UniGene:
Hs.521953
CCDS:
CCDS55405.1
|
| {{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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