1. Gene
  2. JAG2 - jagged canonical Notch ligand 2 Gene

JAG2 - jagged canonical Notch ligand 2 Gene

中文名称:锯齿状典型 Notch 配体 2

种属: Homo sapiens

同用名: HJ2; SER2; LGMDR27

基因 ID: 3714 | 基因类型: protein coding

关于 JAG2

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:105,140,995-105,168,776 (from NCBI)

This gene has 5 transcripts (splice variants), 430 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in skin (RPKM 13.9), fat (RPKM 7.0) and 19 other tissues.

功能概要

Notch 信号通路是一种细胞间信号机制,对胚胎的正常发育至关重要。 Notch 基因家族的成员编码对各种细胞命运决定至关重要的跨膜受体。由该基因编码的蛋白质是激活 Notch 和相关受体的几种配体之一。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

JAG2 基因产物(2)

mRNA Protein Name
NM_002226.5 NP_002217.3 protein jagged-2 isoform a precursor
NM_145159.3 NP_660142.1 protein jagged-2 isoform b precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Notch binding IPI
IPI: 通过物理相互作用推断
9315665 GOA
enables growth factor activity IDA
IDA: 通过直接分析推断
10383933 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16713569 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell differentiation IDA
IDA: 通过直接分析推断
10383933 GOA
involved in cell differentiation IDA
IDA: 通过直接分析推断
11700865 GOA
involved in regulation of cell population proliferation IDA
IDA: 通过直接分析推断
10383933 GOA
involved in spermatogenesis IEP
IEP: 通过表达模式推断
11700865 GOA
involved in thymic T cell selection IDA
IDA: 通过直接分析推断
10383933 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

JAG2 蛋白结构

MNNL

MNNL: N terminus of Notch ligand (26 - 105)

DSL

DSL: Delta serrate ligand (178 - 240)

EGF

EGF: EGF-like domain (311 - 343)

EGF

EGF: EGF-like domain (351 - 381)

EGF

EGF: EGF-like domain (389 - 417)

EGF_CA

EGF_CA: Calcium-binding EGF domain (423 - 456)

EGF

EGF: EGF-like domain (458 - 494)

EGF

EGF: EGF-like domain (502 - 531)

hEGF

hEGF: Human growth factor-like EGF (621 - 633)

EGF

EGF: EGF-like domain (636 - 669)

EGF

EGF: EGF-like domain (678 - 708)

EGF

EGF: EGF-like domain (755 - 785)

EGF

EGF: EGF-like domain (793 - 822)

EGF

EGF: EGF-like domain (831 - 861)

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  • 1238 a.a.
蛋白主名 其他名称

protein jagged-2

jagged 2

JAG2 抗体

目录号 产品名 应用 反应物种
HY-P83196 Jagged 2 Antibody (YA2941) WB Human, Mouse

关联疾病

疾病名称 别名
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27

LGMDR27

Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible

Cheney Syndrome

Arthrodentoosteodysplasia

HJCYS

Serpentine Fibula-Polycystic Kidney Syndrome

Sfpks

Acroosteolysis Dominant Type

Serpentine Fibula-Polycystic Kidneys Syndrome

Arthro-Dento-Osteo Dysplasia

Cranioskeletal Dysplasia With Acro-Osteolysis

Familial Osteodysplasia

Hereditary Osteodysplasia With Acro-Osteolysis

Hcs

Serpentine Fibula Syndrome

Acro-Osteolysis

Serpentine Fibula Polycystic Kidney Syndrome

Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

Popliteal Pterygium Syndrome

PPS

Faciogenitopopliteal Syndrome

Facio-Genito-Popliteal Syndrome

Popliteal Web Syndrome

Autosomal Dominant Popliteal Pterygium Syndrome

Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies

Popliteal Pterygium Syndrome 1

Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies

Popliteal Pterygium

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Orofacial Cleft

Cleft, Orofacial

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
Felis catus JAG2 VGNC VGNC:67875
Rattus norvegicus JAG2 RGD RGD:2938
Mus musculus JAG2 MGD MGI:1098270
Canis familiaris JAG2 VGNC VGNC:42173
Macaca mulatta JAG2 VGNC VGNC:73809
Bos taurus JAG2 VGNC VGNC:30362