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This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
MS4A6A (Membrane Spanning 4-Domains A6A) is a Protein Coding gene. Diseases associated with MS4A6A include Hydrocephalus, Normal-Pressure and Communicating Hydrocephalus. An important paralog of this gene is MS4A6E.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016021 | integral component of membrane | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MS4A6A 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | LOC612553 32 |
|
||
-- 33 |
|
OneToMany | |||
mouse (Mus musculus) |
Mammalia | Ms4a6d 17 33 32 |
|
||
Gm10212 33 |
|
ManyToMany | |||
Ms4a6c 33 |
|
ManyToMany | |||
Ms4a6b 33 |
|
ManyToMany | |||
rat (Rattus norvegicus) |
Mammalia | Ms4a6a 32 |
|
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000113673 | -- | 60,184,011(-) | C/G | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
rs1000156217 | -- | 60,171,295(-) | T/A | downstream_transcript_variant | |
rs1000547958 | -- | 60,183,779(-) | T/C | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
rs1000965604 | -- | 60,175,341(-) | C/T | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant | |
rs1001202392 | -- | 60,176,031(-) | A/G | genic_downstream_transcript_variant, intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
hydrocephalus, normal-pressure |
|
|
communicating hydrocephalus |
|
|