| Type | Description |
|---|---|
| Definition | transmembrane protein 38B |
| Date | Results | Publications |
|---|---|---|
| 2017-04-08 12:09:00 | TMEM38B mutations could lead to a rare form of OI, with an autosomal recessive pattern of inheritance. We identified two novel mutations (c.455-7T>G in intron 3 and c.507G>A in exon 4) in TMEM38B in three Chinese children with OI. The two mutations created a new acceptor splice site (p.R151_G152insVL) and a novel downstream termination codon (p.W169X), respectively | 26911354 |
| 2017-03-25 11:46:00 | Absence of TMEM38B causes osteogenesis imperfecta by dysregulation of calcium flux kinetics in the endoplasmic reticulum, impacting multiple collagen-specific chaperones and modifying enzymes. | 27441836 |
| 2013-09-07 10:37:00 | A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. | 23316006 |
| 2013-03-16 12:25:00 | TMEM38B is a novel candidate gene for autosomal recessive Osteogenesis imperfecta (OI). Future studies are needed to explore fully the contribution of this gene to autosomal recessive Osteogenesis imperfecta (OI) in other populations. | 23054245 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20800603 |
| Type | IDs |
|---|---|
| Synonymous | C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1 |
| Gene |
UniProtKB-ID:
TM38B_HUMAN,
A0A0A0MRS4_HUMAN
UniprotKB:
Q9NVV0,
A0A0A0MRS4
UniParc:
UPI0000034FF4,
UPI0000458AC8
EMBL:
CR457258,
AL627247,
BC000049,
CH471105,
AL592437,
AK001355,
AL592488
Ensembl:
ENSG00000095209
KO:
hsa:55151
|
| Nucleutide sequences |
EMBL-CDS:
AAH00049.1,
BAA91645.1,
CAG33539.1,
EAW59004.1
Gene_ORFName:
hCG_1738357
Ensembl_TRS:
ENST00000374692,
ENST00000374688
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000363824,
ENSP00000363820
RefSeq:
XP_005252133.1,
XP_005252132.1,
XP_011517131.1,
XP_011517133.1,
XP_011517135.1,
NP_060582.1,
XP_011517134.1,
XP_005252134.1
|
| Others |
UniRef100:
UniRef100_Q9NVV0
UniRef90:
UniRef90_Q9NVV0
UniRef50:
UniRef50_Q9NVV0
UniGene:
Hs.411925,
Hs.618078
CCDS:
CCDS6768.1
|
| {{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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