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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. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
MS4A1 (Membrane Spanning 4-Domains A1) is a Protein Coding gene. Diseases associated with MS4A1 include Immunodeficiency, Common Variable, 5 and Common Variable Immunodeficiency. Among its related pathways are Hematopoietic cell lineage and Hematopoietic Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include epidermal growth factor receptor binding and MHC class II protein complex binding. An important paralog of this gene is MS4A8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005154 | epidermal growth factor receptor binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0019865 | immunoglobulin binding | IDA | 18474602 |
GO:0023026 | MHC class II protein complex binding | HDA | 20458337 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005886 | plasma membrane | IEA,IDA | -- |
GO:0005887 | integral component of plasma membrane | NAS | 2448768 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002115 | store-operated calcium entry | IMP | 12920111 |
GO:0006959 | humoral immune response | NAS | 2448768 |
GO:0009617 | response to bacterium | IEA | -- |
GO:0030183 | B cell differentiation | IDA | 3925015 |
GO:0042100 | B cell proliferation | NAS | 2448768 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
rituximab | Approved | Pharma | Target, antibody | Therapeutic Antibodies | 2024 | |
ofatumumab | Approved | Pharma | Target, antibody, inhibitor | Therapeutic Antibodies | 119 | |
Tositumomab | Approved, Investigational | Pharma | Target, antibody | 0 | ||
ibritumomab tiuxetan | Approved, Investigational | Pharma | Target, antibody | Therapeutic Antibodies | 0 | |
Obinutuzumab | Approved, Investigational | Pharma | Target, antibody | 155 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MS4A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MS4A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ms4a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ms4a1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MS4A1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MS4A1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MS4A1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720956 | Benign: not provided | 60,462,485(+) | G/C | SYNONYMOUS_VARIANT | |
742969 | Benign: not provided | 60,462,497(+) | G/A | SYNONYMOUS_VARIANT | |
811262 | Uncertain Significance: Common variable immunodeficiency 5 | 60,463,036(+) | C/T | MISSENSE_VARIANT | |
rs201491900 | Uncertain Significance: not provided | 60,462,424(+) | T/C | MISSENSE_VARIANT | |
rs2070770 | Benign: Common variable immunodeficiency 5 | 60,463,058(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv391e212 | CNV | loss | 25503493 |
dgv51n111 | CNV | deletion | 26073780 |
esv2661434 | CNV | deletion | 23128226 |
esv2744569 | CNV | deletion | 23290073 |
esv2744572 | CNV | deletion | 23290073 |
esv28830 | CNV | loss | 19812545 |
esv3626558 | CNV | loss | 21293372 |
esv4679 | CNV | loss | 18987735 |
nsv471730 | CNV | loss | 16327809 |
nsv508635 | CNV | deletion | 20534489 |
nsv555151 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency, common variable, 5 |
|
|
common variable immunodeficiency |
|
|
b-cell non-hodgkin lymphoma |
|
|
peripheral t-cell lymphoma |
|
|
pityriasis lichenoides |
|
|