1. Gene
  2. MS4A2 - membrane spanning 4-domains A2 Gene

MS4A2 - membrane spanning 4-domains A2 Gene

中文名称:跨膜 4 域 A2

种属: Homo sapiens

同用名: APY; IGEL; IGER; ATOPY; FCERI; IGHER; FCER1B

基因 ID: 2206 | 基因类型: protein coding

关于 MS4A2

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:60,088,259-60,098,467 (from NCBI)

This gene has 4 transcripts (splice variants), 358 orthologues, 16 paralogues and is associated with 1 phenotype. Biased expression in lung (RPKM 8.1), gall bladder (RPKM 5.4) and 13 other tissues.

功能概要

变态反应涉及变应原与受体结合的 IgE 的结合,随后是细胞活化和导致变态反应表现的介质的释放。 IgE 受体是一种由 α、β 和 2 个二硫键连接的 γ 链组成的四聚体,存在于肥大细胞和嗜碱性粒细胞的表面。该基因编码高亲和力 IgE 受体的 β 亚基,该受体是跨膜 4A 基因家族的成员。这个新生蛋白家族的成员具有共同的结构特征和相似的内含子/外显子剪接边界,并在造血细胞和非淋巴组织中表现出独特的表达模式。该家族成员定位于 11q12,位于一组跨膜 4A 基因家族成员中。可变剪接导致编码不同蛋白质的多个转录变体。已经描述了其他转录变体,但需要实验验证。[RefSeq 提供,2012 年 3 月]

The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is 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 family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]

MS4A2 基因产物(2)

mRNA Protein Name
NM_000139.5 NP_000130.1 high affinity immunoglobulin epsilon receptor subunit beta isoform 1
NM_001256916.2 NP_001243845.1 high affinity immunoglobulin epsilon receptor subunit beta isoform 3

MS4A2 蛋白结构

CD20

CD20: CD20-like family (61 - 203)

  • 0
  • 100
  • 200
  • 244 a.a.
蛋白主名 其他名称

high affinity immunoglobulin epsilon receptor subunit beta

Fc fragment of IgE, high affinity I, receptor for

关联疾病

疾病名称 别名
Ige Responsiveness, Atopic

ATOPY

Atopy, Susceptibility To

Ige, Elevated Level Of

IGER

Immunoglobulin E, Basic Level Of, In Serum

Ige, Level Of

Igel

Ige Response Underlying Allergic Asthma And Rhinitis

Atopic Hypersensitivity

Immediate Hypersensitivity

Allergic Asthma

Atopic Asthma

Extrinsic Asthma

Extrinsic Asthma With Acute Exacerbation

Extrinsic Asthma With Status Asthmaticus

Asthma Allergic

Atopic Asthma, Susceptibility To

Ige-Mediated Allergic Asthma

Allergen-Induced Asthma

Allergic Asthma Without Stated Status Asthmaticus

Predominantly Allergic Asthma Without Stated Status Asthmaticus

Predominantly Allergic Asthma

Allergic Asthma Nos

Catarrh With Asthma

Allergic Bronchitis Nos

Extrinsic Allergic Asthma

Predominantly Allergic Asthma With Stated Status Asthmaticus

Childhood-Onset Asthma

Childhood Asthma

Asthma Childhood

Allergic Rhinitis

Hay Fever

Allergic Rhinitis, Susceptibility To

ALRH

Atopic Rhinitis

Seasonal Allergic Rhinitis

Non-Seasonal Allergic Rhinitis

Perenial Allergic Rhinitis

Pollenosis

Rhinitis Allergic Seasonal

Rhinitis, Allergic, Perennial

Allergic Rhinitis, Cause Unspecified

Pollinosis

Pollen Allergy

Allergy Nos Due To Pollen

Summer Catarrh

Other Seasonal Allergic Rhinitis

Dermatitis, Atopic

Atopic Dermatitis

Atopic Eczema

Dermatitis, Atopic, Susceptibility To, 1

Atod

Eczema, Atopic

Dermatitis, Atopic 1

Allergic Dermatitis

Atopic Neurodermatitis

Besnier'S Prurigo

Dermatitis, Atopic, 1

Dermatitis Atopic

Eczema

Besnier Prurigo

Food Allergy

Food Hypersensitivity

Food Allergies

Allergy Food

Food Allergen-Induced Hypersensitivity

Type 1 Diabetes Mellitus 4

Diabetes Mellitus, Insulin-Dependent, 4

Iddm4

Insulin-Dependent Diabetes Mellitus 4

T1D4

Insulin-Dependent Diabetes Mellitus-4

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MS4A2 RGD RGD:2598
Mus musculus MS4A2 MGD MGI:95495
Felis catus MS4A2 VGNC VGNC:108366
Bos taurus MS4A2 VGNC VGNC:31685
Macaca mulatta MS4A2 VGNC VGNC:74929
Canis familiaris MS4A2 VGNC VGNC:43432
Macaca fascicularis MS4A2 NCBI
Canis lupus familiaris MS4A2 NCBI
Others MS4A2 NCBI