1. Gene
  2. ITGB4 - integrin subunit beta 4 Gene

ITGB4 - integrin subunit beta 4 Gene

中文名称:整合素亚基β4

种属: Homo sapiens

同用名: CD104; GP150; JEB5A; JEB5B

基因 ID: 3691 | 基因类型: protein coding

关于 ITGB4

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,721,459-75,757,818 (from NCBI)

This gene has 13 transcripts (splice variants), 199 orthologues, 8 paralogues and is associated with 9 phenotypes. Broad expression in stomach (RPKM 27.7), skin (RPKM 23.3) and 19 other tissues.

功能概要

整合素是由α和β亚基组成的异二聚体,是非共价结合的跨膜糖蛋白受体。 α 和 β 多肽的不同组合形成配体结合特异性不同的复合物。整合素介导细胞-基质或细胞-细胞粘附,以及调节基因表达和细胞生长的转导信号。该基因编码整合素β4 亚基,层粘连蛋白的受体。该亚基倾向于与 alpha 6 亚基结合,并可能在浸润性癌的生物学中发挥关键作用。该基因的突变与伴有幽门闭锁的大疱性表皮松解有关。已经为该基因发现了编码不同亚型的多个选择性剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the Integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ITGB4 基因产物(4)

mRNA Protein Name
NM_000213.5 NP_000204.3 integrin beta-4 isoform 1 precursor
NM_001005619.1 NP_001005619.1 integrin beta-4 isoform 2 precursor
NM_001005731.3 NP_001005731.1 integrin beta-4 isoform 3 precursor
NM_001321123.2 NP_001308052.1 integrin beta-4 isoform 3 precursor
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
enables G protein-coupled receptor binding IPI
IPI: 通过物理相互作用推断
24851274 GOA
contributes to insulin-like growth factor I binding IDA
IDA: 通过直接分析推断
22351760 GOA
contributes to neuregulin binding IDA
IDA: 通过直接分析推断
20682778 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
2649503 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagy IMP
IMP: 通过突变表型推断
24007983 GOA
involved in cell motility IMP
IMP: 通过突变表型推断
19403692 GOA
involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
23496044 GOA
involved in hemidesmosome assembly IDA
IDA: 通过直接分析推断
12482924 GOA
involved in hemidesmosome assembly IMP
IMP: 通过突变表型推断
23496044 GOA
involved in mesodermal cell differentiation IEP
IEP: 通过表达模式推断
23154389 GOA
involved in nail development IMP
IMP: 通过突变表型推断
23496044 GOA
involved in response to wounding IDA
IDA: 通过直接分析推断
19403692 GOA
involved in skin morphogenesis IMP
IMP: 通过突变表型推断
23496044 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell leading edge IDA
IDA: 通过直接分析推断
19403692 GOA
located in cell surface IDA
IDA: 通过直接分析推断
19933311 GOA
located in hemidesmosome IDA
IDA: 通过直接分析推断
12482924 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21310825 GOA
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 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

ITGB4 蛋白结构

Integrin_beta

Integrin_beta: Integrin beta chain VWA domain (37 - 453)

EGF_2

EGF_2: EGF-like domain (543 - 573)

Integrin_B_tail

Integrin_B_tail: Integrin beta tail domain (626 - 710)

Calx-beta

Calx-beta: Calx-beta domain (980 - 1084)

fn3

fn3: Fibronectin type III domain (1129 - 1208)

fn3

fn3: Fibronectin type III domain (1221 - 1309)

fn3

fn3: Fibronectin type III domain (1530 - 1611)

fn3

fn3: Fibronectin type III domain (1642 - 1727)

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  • 1500
  • 1822 a.a.
蛋白主名 其他名称

integrin beta-4

CD104 antigen

重组 ITGB4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73870 Integrin alpha 6 beta 4 Protein, Human (HEK293, Flag-His) P23229-3 (F24-S1011)&P16144 (N28-S710) ≥95%

关联疾病

疾病名称 别名
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

Junctional Epidermolysis Bullosa With Pyloric Atresia

Carmi Syndrome

Epidermolysis Bullosa, Junctional, With Pyloric Atresia

Jeb-Pa

JEB5B

Epidermolysis Bullosa Junctionalis With Pyloric Atresia

Aplasia Cutis Congenita With Gastrointestinal Atresia

Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita

Eb-Pa-Acc

Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome

Jeb With Pyloric Atresia

Epidermolysis Bullosa Letalis, With Pyloric Atresia

Pa-Jeb

Epidermolysis Bullosa With Pyloric Atresia

Epidermolysis Bullosa, Junctional 5a, Intermediate

JEB5A

Epidermolysis Bullosa, Junctional 5a, Generalized Intermediate

Epidermolysis Bullosa, Junctional 5a, Non-Herlitz Type

Epidermolysis Bullosa With Pyloric Atresia

Eb-Pa

Carmi Syndrome

Junctional Epidermolysis Bullosa With Pyloric Atresia

Pa-Jeb

Epidermolysis Bullosa Simplex 1c, Localized

Epidermolysis Bullosa Of Hands And Feet

EBS1C

Ebs, Acral Form

Epidermolysis Bullosa Simplex 1c, Weber-Cockayne Type

Epidermolysis Bullosa Simplex, Localized

Epidermolysis Bullosa Simplex, Weber-Cockayne Type

Wc-Ebs

Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive

Congenital Absence Of Skin On The Upper Or Lower Limbs

Recessive Aplasia Cutis Congenita Of The Limbs

Aplasia Cutis Congenita Nonsyndromic

Congenital Defect Of Skull And Scalp

Scalp Defect Congenital

Epidermolysis Bullosa Simplex 5c, With Pyloric Atresia

Epidermolysis Bullosa Simplex With Pyloric Atresia

EBS5C

Ebspa

Ebs With Pyloric Atresia

Ebs-Pa

Epidermolysis Bullosa Simplex, With Pyloric Atresia

Epidermolysis Bullosa Simplex Localized Type

Epidermolysis Bullosa Simplex, Weber-Cockayne Type

Weber-Cockayne Syndrome

Ebs-Loc

Epidermolysis Bullosa Simplex Of Palms And Soles

Epidermolysis Bullosa Simplex Weber-Cockayne Type

Epidermolysis Bullosa Simplex, Localized

Epidermolysis Bullosa Of Hands And Feet

Weber-Cockayne Type Epidermolysis Bullosa Simplex

Localized Epidermolysis Bullosa Simplex

Localized Ebs

Epidermolysis Bullosa, Junctional 1a, Intermediate

Jeb-I

JEB1A

Epidermolysis Bullosa Junctionalis, Disentis Type

Junctional Epidermolysis Bullosa Inversa

Generalized Atrophic Benign Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate

Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Progressive

Epidermolysis Bullosa Junctionalis, Severe Nonlethal

Localized Junctional Epidermolysis Bullosa

Jeb-Nh Loc

Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type

Localized Jeb

Intermediate Generalized Junctional Epidermolysis Bullosa

Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type

Intermediate Generalized Jeb

Junctional Epidermolysis Bullosa Generalisata Mitis

Junctional Epidermolysis Bullosa, Disentis Type

Jeb Inversa

Epidermolysis Bullosa Atrophicans Generalisata Mitis

Epidermolysis Bullosa Junctionalis Disentis Type

Epidermolysis Bullosa Junctionalis Progressive

Epidermolysis Bullosa Junctionalis Severe Non-Lethal

Gabeb

Generalized Junctional Epidermolysis Bullosa Mitis

Non-Herlitz Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Inversa Dystrophica

Pyloric Atresia
Ocular Cicatricial Pemphigoid

OCP

Cicatricial Pemphigoid, Ocular

Pemphigoid, Ocular Cicatricial

Pemphigoid, Benign Mucous Membrane

Epidermolysis Bullosa

Acantholysis Bullosa

Eb

Kindler Syndrome

Poikiloderma Of Kindler

Bullous Acrokeratotic Poikiloderma Of Kindler And Weary

Congenital Bullous Poikiloderma

KNDLRS

Poikiloderma, Hereditary Acrokeratotic

Poikiloderma, Congenital, With Bullae, Weary Type

Kindler'S Syndrome

Poikiloderma Congenital With Bullae Weary Type

Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary

Hereditary Acrokeratotic Poikiloderma

Weary Syndrome

Poikiloderma Hereditary Acrokeratotic

Potassium Deficiency

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

Junctional Epidermolysis Bullosa Non-Herlitz Type

Junctional Epidermolysis Bullosa, Non-Herlitz Type

Gabeb

Generalized Atrophic Benign Epidermolysis Bullosa

Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type

Jeb-Nh Gen

Jen-Nh

Junctional Epidermolysis Bullosa Generalisata Mitis

Junctional Epidermolysis Bullosa, Disentis Type

Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Cicatricial Pemphigoid

Mucous Membrane Pemphigoid

Ocular Pemphigoid

Benign Mucous Membrane Pemphigoid

Benign Mucous Membrane Pemphigoid With Ocular Involvement

Benign Mucosal Pemphigoid

Pemphigoid, Benign Mucous Membrane

Cicatricial Pemphigoid With Ocular Involvement

Ocular Pemphigus

Cicatricial Pemphigoid Disease

Mucosal Pemphigoid

Mucosynechial Pemphigoid

Pemphigoid Cicatricial

Cicatricial Pemphigoid Involving The Eye

Ocular Cicatricial Pemphigoid

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Epidermolysis Bullosa Acquisita

Acquired Epidermolysis Bullosa

Eb Acquisita

Eba

Eba - [Epidermolysis Bullosa Acquisita]

Bullous Pemphigoid

Benign Pemphigus

Senile Dermatitis Herpetiformis

Old Age Pemphigus

Parapemphigus

Pemphigoid

Pemphigoid Bullous

Pemphigoid, Bullous

Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa

Pemphigoid
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Epithelial Basement Membrane Dystrophy

Ebmd

Corneal Dystrophy, Epithelial Basement Membrane

Cogan Corneal Dystrophy

Microcystic Corneal Dystrophy

Anterior Basement Membrane Dystrophy

Cogan Microcystic Epithelial Dystrophy

Map-Dot-Fingerprint Dystrophy

Microscopic Cystic Corneal Dystrophy

Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

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

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

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

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

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
Bos taurus ITGB4 VGNC VGNC:30329
Rattus norvegicus ITGB4 RGD RGD:2928
Mus musculus ITGB4 MGD MGI:96613
Felis catus ITGB4 VGNC VGNC:67852
Macaca mulatta ITGB4 VGNC VGNC:99159
Others ITGB4 NCBI