| Type | Description |
|---|---|
| Definition | Dmx like 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-12 12:25:00 | Disruption of DMXL2 may predispose to NDDs including autism spectrum disorder. | 30732576 |
| 2020-05-23 10:20:00 | Impaired lysosomal function and autophagy caused by biallelic DMXL2 mutations affect neuronal development and synapse formation and result in Ohtahara syndrome with profound developmental impairment and reduced life expectancy. | 31688942 |
| 2018-01-20 11:55:00 | Data indicated that the p.Arg2417His variant in DMXL2 is associated with dominant, nonsyndromic hearing loss and suggested an important role of DMXL2 in inner ear function. | 27657680 |
| 2016-10-01 11:58:00 | authors demonstrate that DMXL2 is a transmembrane protein with a potential extra-cellular domain. These findings identify DMXL2 as a novel, functional biomarker for ERalpha positive breast cancer. | 26093085 |
| 2015-05-30 13:31:00 | Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in humans and mice. | 25248098 |
| Type | IDs |
|---|---|
| Synonymous | DFNA71, PEPNS, RC3 |
| Gene |
UniProtKB-ID:
DMXL2_HUMAN,
A0A024R5V2_HUMAN
UniprotKB:
Q8TDJ6,
A0A024R5V2
UniParc:
UPI0001747A0B,
UPI00001FE4C2,
UPI000013CCDD
EMBL:
BC140781,
CH471082,
AF389880,
AC066613,
AC020892,
AB020663,
BC144539
Ensembl:
ENSG00000104093
KO:
hsa:23312
|
| Nucleutide sequences |
EMBL-CDS:
AAL93215.1,
AAI44540.1,
AAI40782.1,
BAA74879.2,
EAW77423.1,
EAW77422.1
Gene_ORFName:
hCG_1786381
Ensembl_TRS:
ENST00000543779,
ENST00000251076,
ENST00000449909
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000251076,
ENSP00000400855,
ENSP00000441858
RefSeq:
NP_001365392.1,
NP_001365391.1,
NP_001167587.1,
NP_001167588.1,
NP_001365389.1,
NP_001365388.1,
NP_001365393.1,
XP_011519704.1,
NP_001365386.1,
NP_056078.2,
NP_001365387.1,
XP_016877523.1,
NP_001365390.1
|
| Others |
UniRef100:
UniRef100_Q8TDJ6
UniRef90:
UniRef90_Q8TDJ6
UniRef50:
UniRef50_Q8TDJ6
UniGene:
Hs.511386
CCDS:
CCDS53946.1,
CCDS10141.1,
CCDS53945.1
|
| {{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