| Type | Description |
|---|---|
| Definition | transmembrane protein 67 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:28:00 | TACC3 promotes prostate cancer cell proliferation and restrains primary cilium formation. | 32156598 |
| 2020-03-07 12:43:00 | This study confirms the diagnosis of Joubert syndrome in a Vietnamese family and expands the mutational spectrum of TMEM67 sequence variations. | 32000717 |
| 2019-06-15 11:30:00 | Study identified two novel heterozygous mutations (p.Gly132Ala and p.Tyr920ThrfsX40) in the TMEM67 gene in a patient with COACH syndrome. Co-injection into zebrafish embryos of tmem67 morpholinos and RNAs encoding the two mutations show no rescue of the hydrocephalus phenotype. These findings indicate that the two mutations may cause COACH syndrome via altered Wnt signaling, at least in part. | 28860541 |
| 2019-04-06 12:42:00 | Compound heterozygous mutations in TMEM67 cause RHYNS syndrome ranging from early lethality to adults with liver fibrosis. | 29891882 |
| 2018-07-28 10:18:00 | Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1. | 29146704 |
| Type | IDs |
|---|---|
| Synonymous | JBTS6, MECKELIN, MKS3, NPHP11, TNEM67 |
| Gene |
UniProtKB-ID:
MKS3_HUMAN
UniprotKB:
Q5HYA8
UniParc:
UPI0000D624E9,
UPI0000EE3237
EMBL:
CH471060,
BC032835,
AK092244,
AC010834,
BX648768,
AK094935
Ensembl:
ENSG00000164953
KO:
hsa:91147
|
| Nucleutide sequences |
EMBL-CDS:
EAW91703.1,
BAG52959.1,
CAI45999.1,
BAG52507.1,
AAH32835.1
Ensembl_TRS:
ENST00000453321,
ENST00000409623
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386966,
ENSP00000389998
RefSeq:
XP_011515665.1,
NP_001135773.1,
NP_714915.3,
XP_024303094.1,
XP_006716749.1
|
| Others |
UniRef100:
UniRef100_Q5HYA8
UniRef90:
UniRef90_Q5HYA8
UniRef50:
UniRef50_Q5HYA8
UniGene:
Hs.116240
CCDS:
CCDS47893.1,
CCDS6258.2
|
| {{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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