| Type | Description |
|---|---|
| Definition | transmembrane protein 216 |
| Date | Results | Publications |
|---|---|---|
| 2012-03-17 11:44:00 | study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region | 22282472 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 21068128 |
| 2010-08-23 11:58:00 | Data show that a single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent. | 20512146 |
| 2010-03-01 11:19:00 | a TMEM216 mutation may have a role in Joubert syndrome 2 (JBTS2) in Ashkenazi Jews | 20036350 |
| Type | IDs |
|---|---|
| Synonymous | HSPC244 |
| Gene |
UniProtKB-ID:
TM216_HUMAN,
J3QT25_HUMAN
UniprotKB:
Q9P0N5,
J3QT25
UniParc:
UPI0001915109,
UPI000049DD36,
UPI000204ADA8,
UPI0001CB7F8C
EMBL:
AP003108,
KU159424,
BC011010,
AK303687,
CR457166,
AF151078
Ensembl:
ENSG00000187049
KO:
hsa:51259
|
| Nucleutide sequences |
EMBL-CDS:
AAH11010.1,
CAG33447.1,
BAH14017.1,
AAF36164.1,
ALX00016.1
Gene_ORFName:
HSPC244
Ensembl_TRS:
ENST00000515837,
ENST00000334888,
ENST00000398979
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000334844,
ENSP00000440638,
ENSP00000381950
RefSeq:
XP_005274096.1,
NP_001167462.1,
NP_001167461.1,
NP_057583.2,
NP_001317214.1
|
| Others |
UniRef100:
UniRef100_Q9P0N5
UniRef90:
UniRef90_Q9P0N5
UniRef50:
UniRef50_Q9P0N5
UniGene:
Hs.26745
CCDS:
CCDS86205.1,
CCDS53640.1
|
| {{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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