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This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]
TMEM240 (Transmembrane Protein 240) is a Protein Coding gene. Diseases associated with TMEM240 include Spinocerebellar Ataxia 21 and Spinocerebellar Ataxia, Autosomal Recessive 21.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO:0045202 | synapse | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | TMEM240 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C16H1orf70 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmem240 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tmem240 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMEM240 31 |
|
OneToOne | |
C1ORF70 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | tmem240 31 |
|
OneToMany | |
LOC568378 30 |
|
||||
TMEM240 (2 of 2) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711681 | Benign: not provided | 1,535,389(-) | G/A | SYNONYMOUS_VARIANT | |
717536 | Likely Benign: not provided | 1,535,449(-) | C/T | SYNONYMOUS_VARIANT | |
718920 | Likely Benign: not provided | 1,535,637(-) | C/T | MISSENSE_VARIANT | |
720069 | Benign: not provided | 1,535,746(-) | G/A | SYNONYMOUS_VARIANT | |
724660 | Likely Benign: not provided | 1,535,782(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758913 | CNV | gain+loss | 17122850 |
esv3418946 | CNV | duplication | 20981092 |
nsv1011818 | CNV | gain | 25217958 |
nsv10161 | CNV | gain+loss | 18304495 |
nsv1130940 | CNV | deletion | 24896259 |
nsv482937 | CNV | loss | 15286789 |
nsv545000 | CNV | loss | 21841781 |
nsv950452 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 21 |
|
|
spinocerebellar ataxia, autosomal recessive 21 |
|
|
spinocerebellar ataxia 25 |
|
|
spinocerebellar ataxia 18 |
|
|
hypertrichosis universalis congenita, ambras type |
|
|