| Type | Description |
|---|---|
| Definition | EvC ciliary complex subunit 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-13 12:22:00 | Novel mutation in EFCAB7 alters expression and interaction with EVC2 protein. | 29845660 |
| 2019-07-06 11:35:00 | Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2 mutation (c.1472C>T) were identified in families with selective tooth agenesis. The Wnt10A c.521T>C mutation and the EVC2 c.1472C>T mutation were considered as pathogenic for affecting highly conserved amino acids, co-segregated with phenotype and predicted to be disease-causing by SIFT and PolyPhen2. | 30417976 |
| 2018-08-04 11:30:00 | he whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. | 29321360 |
| 2017-02-18 12:28:00 | we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. | 26748586 |
| 2016-10-01 10:29:00 | sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families.. | 26580685 |
| Type | IDs |
|---|---|
| Synonymous | LBN, WAD |
| Gene |
UniProtKB-ID:
LBN_HUMAN
UniprotKB:
Q86UK5
UniParc:
UPI00001910B5,
UPI000021C4F1,
UPI000006DE35
EMBL:
AY152403,
AB083067,
AY185210,
AY152402
Ensembl:
ENSG00000173040
KO:
hsa:132884
|
| Nucleutide sequences |
EMBL-CDS:
BAC06590.1,
AAN86577.1,
AAO22066.1,
AAN86578.1
Ensembl_TRS:
ENST00000344408,
ENST00000310917
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000342144,
ENSP00000311683
RefSeq:
XP_016863226.1,
XP_016863225.1,
NP_001159608.1,
XP_024309661.1,
NP_667338.3,
XP_016863227.1,
XP_016863228.1
|
| Others |
UniRef100:
UniRef100_Q86UK5
UniRef90:
UniRef90_Q86UK5
UniRef50:
UniRef50_Q8K1G2
UniGene:
Hs.87306
CCDS:
CCDS54718.1,
CCDS3382.2
|
| {{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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