2. Gene
  3. IGHM - immunoglobulin heavy constant mu Gene

IGHM - immunoglobulin heavy constant mu Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：免疫球蛋白重常数μ

种属: Homo sapiens

同用名: MU; VH; AGM1

基因 ID: 3507 | 基因类型: other

关于 IGHM

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:105,851,966-105,856,217 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 184 orthologues, 82 paralogues and is associated with 1 phenotype.

功能概要

免疫球蛋白 (Ig) 是 B 细胞的抗原识别分子。 Ig 分子由通过二硫键连接的 2 条相同的重链和 2 条相同的轻链 (参见 MIM 147200) 组成，因此每条重链都连接到一条轻链，并且 2 条重链连接在一起。每条 Ig 重链都有一个包含抗原结合位点的 N 端可变 (V) 区和一个由单个 C 区基因编码的 C 端恒定 (C) 区，它决定抗体的同种型并提供效应子或信号功能。重链 V 区由 3 种基因中的每一种编码：V 基因 (参见 MIM 147070) 、连接 (J) 基因 (参见 MIM 147010) 和多样性 (D) 基因 (参见 MIM 146910) 。 C 区基因聚集在 14 号染色体重链基因座内 V 区基因的下游。IGHM 基因编码 mu 重链的 C 区，它定义了 IgM 同种型。幼稚 B 细胞在其表面表达跨膜形式的 IgM 和 IgD (参见 IGHD；MIM 1471770) 。在抗体反应期间，活化的 B 细胞可以通过称为同种型转换的体细胞重组过程转换为单个下游重链 C 区基因的表达。此外，可通过重链 C 区序列的替代 RNA 加工产生充当抗体的分泌型 Ig 形式。尽管所有 Ig 同种型的膜形式都是单体，但分泌的 IgM 在血浆中形成五聚体，偶尔也形成六聚体 (Janeway 等人总结，2005 年) 。[OMIM 提供，2010 年 8 月]

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as Antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]

基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to immunoglobulin receptor binding IDA
IDA: 通过直接分析推断
23250751 GOA
contributes to peptidoglycan binding IDA
IDA: 通过直接分析推断
21786026 GOA
contributes to phosphatidylcholine binding IDA
IDA: 通过直接分析推断
21786026 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
36949194 GOA
contributes to single-stranded DNA binding IDA
IDA: 通过直接分析推断
21786026 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adaptive immune response IDA
IDA: 通过直接分析推断
21786026 GOA
involved in antibacterial humoral response IDA
IDA: 通过直接分析推断
21786026 GOA
involved in defense response to Gram-negative bacterium IDA
IDA: 通过直接分析推断
22427638 GOA
involved in innate immune response IDA
IDA: 通过直接分析推断
21786026 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of IgM B cell receptor complex IDA
IDA: 通过直接分析推断
35981043 GOA
located in cell surface IDA
IDA: 通过直接分析推断
22427638 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
25645918 GOA
part of hexameric IgM immunoglobulin complex IDA
IDA: 通过直接分析推断
21786026 GOA
part of pentameric IgM immunoglobulin complex IDA
IDA: 通过直接分析推断
21786026 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

IGHM 蛋白结构

C1-set

C1-set: Immunoglobulin C1-set domain (20 - 96)

C1-set

C1-set: Immunoglobulin C1-set domain (128 - 205)

C1-set

C1-set: Immunoglobulin C1-set domain (237 - 314)

C1-set

C1-set: Immunoglobulin C1-set domain (337 - 423)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 453 a.a.

IGHM 抗体

目录号 产品名 应用 反应物种
HY-P81317 Human IgM Antibody (YA1062) ELISA, IHC-P Human

关联疾病

疾病名称 别名
Agammaglobulinemia 1, Autosomal Recessive

Agammaglobulinemia 1

AGM1

Autosomal Recessive Agammaglobulinemia 1

Agammaglobulinemia, Autosomal Recessive, Due To Ighm Defect

Agammaglobulinemia Autosomal Recessive Due To Ighm Defect

Agammaglobulinemia, Type 1, Autosomal Recessive )
Agammaglobulinemia, Non-Bruton Type

Autosomal Agammaglobulinemia
Agammaglobulinemia

Hypogammaglobulinemia

Ighm

Mu Heavy Chain Deficiency

Mu-Heavy Chain Disease

Mu-Hcd

Mu-Chain Disease
Primary Central Nervous System Lymphoma

Pcnsl

Primary Cns Lymphoma

Primary Brain Lymphoma

Primary Lymphoma, Cns

Primary Cerebral Lymphoma
Cryoglobulinemia, Familial Mixed

Cryoglobulinemic Vasculitis

Essential Mixed Cryoglobulinemia

Mixed Cryoglobulinemia

Essential Cryoglobulinemia

Primary Cryoglobulinemia

Meltzer Syndrome

Familial Mixed Cryoglobulinemia
Leukemia, Chronic Lymphocytic 2

Leukemia, Chronic Lymphocytic, Susceptibility To, 2

B-Cell Malignancy, Low-Grade

Clls2

Disrupted In B-Cell Malignancy

Dbm

Leukemia, Chronic Lymphocytic, B-Cell

Bcll

Lymphocytic Leukemia Chronic B-Cell

Chronic Lymphocytic Leukemia

Chronic Lymph Leukaemia

Chronic Lymphatic Leukaemia

Chronic Lymphocytic Leukaemia

Chronic Lymphoid Leukaemia

Lymphoplasmacytic Leukaemia
Follicular Lymphoma

Lymphoma, Follicular

Lymphoma Follicular

Brill-Symmers' Disease

Large Cell Follicular Non-Hodgkin Lymphoma

Diffuse Follicle Centre Lymphoma

Diffuse Follicular Lymphoma Nos

Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

Follicular Large Cell Cleaved Or Noncleaved Lymphoma

Large Cell Follicular Noncleaved Lymphoma

Follicular Lymphoma With Or Without Diffuse Areas

Histiocytic Follicular Lymphoma

Histiocytic Nodular Lymphoma

Histiocytic Nodular Malignant Lymphoma

Large Cell Follicular Lymphoma

Large Cell Noncleaved Follicular Lymphoma

Large Cell Noncleaved Follicular Malignant Lymphoma

Nodular Reticulum Cell Sarcoma

Noncleaved Follicular Lymphoma
Schnitzler Syndrome

Chronic Urticaria With Gammopathy

Chronic Urticaria With Macroglobulinemia

Chronic Urticaria With Gammapathy
Agammaglobulinemia, X-Linked

X-Linked Agammaglobulinemia

XLA

Bruton Type Agammaglobulinemia

Bruton'S Agammaglobulinemia

Bruton-Type Agammaglobulinemia

Agmx1

Imd1

Agammaglobulinemia, X-Linked 1

Btk-Deficiency

Agammaglobulinemia

Hypogammaglobulinemia

Agammaglobulinemia, X-Linked, Type 1

Immunodeficiency 1

Bruton Agammaglobulinemia Tyrosine Kinase Deficiency

Bruton Disease

Bruton'S Agammaglobulinaemia

Bruton'S Sex-Linked Agammaglobulinemia

Bruton'S Type Agammaglobulinemia

Btk Deficiency

Agammaglobulinemia, Btk

Agammaglobulinemia, Bruton Tyrosine Kinase

Congenital Agammaglobulinemia

Immunodeficiency Type 1

X-Linked Agammaglobulinemia Type 1
Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell
Waldenstroem'S Macroglobulinemia

Waldenstrom Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Waldenström Macroglobulinemia

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstrom'S Macroglobulinaemia

Waldenstrom'S Syndrome

Waldenstrom'S Macroglobulinemia

Wm

Waldenström'S Macroglobulinemia

Malignant Lymphoma - Lymphoplasmacytic
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06638 IGHMBP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus IGHM MGD MGI:96448
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z