1. Gene
  2. MS4A3 - membrane spanning 4-domains A3 Gene

MS4A3 - membrane spanning 4-domains A3 Gene

中文名称:跨膜 4 域 A3

种属: Homo sapiens

同用名: HTM4; CD20L

基因 ID: 932 | 基因类型: protein coding

关于 MS4A3

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:60,056,665-60,071,115 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 93 orthologues and 16 paralogues. Restricted expression toward bone marrow (RPKM 168.2).

功能概要

该基因编码跨膜 4A 基因家族的成员。该蛋白质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。该家族成员可能在信号转导中发挥作用,并可能作为与受体复合物相关的亚基发挥作用。编码该蛋白质的基因定位于 11q12,位于相关家族成员的簇中。可变剪接可能导致多种转录本变异;然而,并非所有变体都得到了充分描述。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the membrane-spanning 4A gene family. Members of this 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 likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

MS4A3 基因产物(3)

mRNA Protein Name
NM_001031666.2 NP_001026836.1 membrane-spanning 4-domains subfamily A member 3 isoform c
NM_001031809.2 NP_001026979.1 membrane-spanning 4-domains subfamily A member 3 isoform b
NM_006138.5 NP_006129.4 membrane-spanning 4-domains subfamily A member 3 isoform a

MS4A3 蛋白结构

CD20

CD20: CD20-like family (50 - 196)

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

membrane-spanning 4-domains subfamily A member 3

CD20 antigen homolog

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

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 MS4A3 RGD RGD:1310598
Mus musculus MS4A3 MGD MGI:2158468
Bos taurus MS4A3 VGNC VGNC:58392