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This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
TMEM38B (Transmembrane Protein 38B) is a Protein Coding gene. Diseases associated with TMEM38B include Osteogenesis Imperfecta, Type Xiv and Osteogenesis Imperfecta, Type Iv. Gene Ontology (GO) annotations related to this gene include potassium channel activity and cation channel activity. An important paralog of this gene is TMEM38A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005261 | cation channel activity | IEA | -- |
GO:0005267 | potassium channel activity | TAS | 19095005 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA | -- |
GO:0007029 | endoplasmic reticulum organization | IEA | -- |
GO:0008654 | phospholipid biosynthetic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMEM38B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMEM38B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMEM38B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmem38b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tmem38b 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM38B 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TMEM38B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMEM38B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMEM38B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem38b 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15857 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tmem38b 30 |
|
||
CABZ01079427.1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4239 31 |
|
ManyToMany | |
CG33061 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | Y57A10A.10 31 |
|
ManyToMany | |
Y57A10A.28 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8498 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
669656 | Likely Benign: not provided | 105,695,074(+) | G/A | INTRON_VARIANT | |
669658 | Benign: not provided | 105,705,326(+) | A/G | INTRON_VARIANT | |
669660 | Benign: not provided | 105,721,308(+) | G/A | INTRON_VARIANT | |
674963 | Benign: not provided | 105,705,848(+) | C/T | INTRON_VARIANT | |
708103 | Benign: not provided | 105,774,003(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteogenesis imperfecta, type xiv |
|
|
osteogenesis imperfecta, type iv |
|
|
dentinogenesis imperfecta |
|
|
bruck syndrome |
|
|
cole-carpenter syndrome |
|
|