| Type | Description |
|---|---|
| Definition | T-box 6 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 12:06:00 | Our study suggests that bi-allelic loss of function variants of TBX6 cause a spectrum of phenotypes including CS and SCD, depending on the severity of the loss of TBX6 function. | 31015262 |
| 2020-02-01 12:15:00 | The type and distribution of vertebral column abnormalities in TBX6/Tbx6 compound inheritance implicate subtle perturbations in gene dosage as a cause of spine developmental birth defects responsible for about 10% of congenital scoliosis | 30636772 |
| 2019-08-17 11:50:00 | association of variants in TBX6 with malformations of the mullerian ducts, is reported. | 30739119 |
| 2019-06-22 10:34:00 | our findings in the newly collected human Congenital vertebral malformations (CVMs) subjects and Tbx6 mouse models consistently support the contention that TBX6 compound inheritance causes CVMs, potentially via a gene dosage-dependent mechanism. | 30307510 |
| 2019-03-30 11:51:00 | In this work, we identified a novel splicing variant of TBX6 in human CAKUT. Our experimental observations suggested that the TBX6 noncoding variant can affect gene expression and may potentially be involved in human CAKUT. | 30604070 |
| Type | IDs |
|---|---|
| Synonymous | SCDO5 |
| Gene |
UniProtKB-ID:
TBX6_HUMAN
UniprotKB:
O95947
UniParc:
UPI0000073A60,
UPI000013DBC7
EMBL:
AJ007989,
BC026031,
AK022330,
CH471238,
AC093512,
AJ010279,
AC012645
Ensembl:
ENSG00000149922
KO:
hsa:6911
|
| Nucleutide sequences |
EMBL-CDS:
CAA07812.1,
EAW79927.1,
BAB14014.1,
AAH26031.1,
CAB37938.1
Ensembl_TRS:
ENST00000567664,
ENST00000553607,
ENST00000395224,
ENST00000279386
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000460425,
ENSP00000279386,
ENSP00000461223,
ENSP00000378650
RefSeq:
NP_004599.2,
XP_016879103.1,
XP_011544228.1,
XP_005255580.1
|
| Others |
UniRef100:
UniRef100_O95947
UniRef90:
UniRef90_O95947
UniRef50:
UniRef50_O95947
UniGene:
Hs.198301
CCDS:
CCDS10670.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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