ITGB4 - integrin subunit beta 4 Gene

Also Known as CD104; GP150; JEB5A; JEB5B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3691

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables G protein-coupled receptor binding	IPI IPI: Inferred from physical interaction	24851274	GOA
contributes to insulin-like growth factor I binding	IDA IDA: Inferred from direct assay	22351760	GOA
contributes to neuregulin binding	IDA IDA: Inferred from direct assay	20682778	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	2649503	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagy	IMP IMP: Inferred from mutant phenotype	24007983	GOA
involved in cell motility	IMP IMP: Inferred from mutant phenotype	19403692	GOA
involved in cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	23496044	GOA
involved in hemidesmosome assembly	IDA IDA: Inferred from direct assay	12482924	GOA
involved in hemidesmosome assembly	IMP IMP: Inferred from mutant phenotype	23496044	GOA
involved in mesodermal cell differentiation	IEP IEP: Inferred from expression pattern	23154389	GOA
involved in nail development	IMP IMP: Inferred from mutant phenotype	23496044	GOA
involved in response to wounding	IDA IDA: Inferred from direct assay	19403692	GOA
involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	23496044	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell leading edge	IDA IDA: Inferred from direct assay	19403692	GOA
located in cell surface	IDA IDA: Inferred from direct assay	19933311	GOA
located in hemidesmosome	IDA IDA: Inferred from direct assay	12482924	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21310825	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITGB4 Protein Structure

Integrin_beta

EGF_2

Integrin_B_tail

Calx-beta

fn3

0
300
600
900
1200
1500
1822 a.a.

Protein Preferred Names	Protein Names
integrin beta-4	CD104 antigen

ITGB4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ITGB4	P16144	S1PR3	Homo sapiens	Q99500	PLA	24851274
Intra	ITGB4	P16144	PLEC	Homo sapiens	Q15149	Fluorescence	19242489
Intra	ITGB4	P16144	PLEC	Homo sapiens	Q15149	X-Ray Diffraction	19242489
Cross	ITGB4	P16144	Cadm1	Mus musculus	Q8R5M8-2	Anti Bait CoIP	21880726
Cross	ITGB4	P16144	Cadm1	Mus musculus	Q8R5M8-2	Anti Tag CoIP	21880726
Intra	ITGB4	P16144	PTK2	Homo sapiens	Q05397	Anti Bait CoIP	27178753

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ITGB4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73870	Integrin alpha 6 beta 4 Protein, Human (HEK293, Flag-His)	P23229-3 (F24-S1011)&P16144-1 (N28-S710)	≥ 90%, as determined by reducing SDS-PAGE.

ITGB4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83535	Integrin beta 4 Antibody (YA3280)	WB, IHC-P	Human, Mouse
HY-P84124	Integrin beta 4 Antibody (YA3821)	WB, IHC-P, FC, ELISA	Human
HY-P84124A	Integrin beta 4 Antibody (YA3821)(PBS only)	WB, IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125355	SEC		98.26%	Unkown
HY-RS06968	ITGB4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17507	Itgb4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23964	Itgb4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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