TGFB3 - transforming growth factor beta 3 Gene

Homo sapiens

Also known as ARVD; LDS5; RNHF; ARVD1; TGF-beta3

Gene ID: 7043 | Gene type: protein coding

About TGFB3

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:75,958,097-75,983,011 (from NCBI)

This gene has 7 transcripts (splice variants), 266 orthologues, 31 paralogues and is associated with 7 phenotypes. Broad expression in placenta (RPKM 31.2), gall bladder (RPKM 25.3) and 22 other tissues.

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]

TGFB3 Products(3)

mRNA	Protein	Name
NM_001329938.2	NP_001316867.1	transforming growth factor beta-3 proprotein isoform 2 precursor
NM_001329939.2	NP_001316868.1	transforming growth factor beta-3 proprotein isoform 1 preproprotein
NM_003239.5	NP_003230.1	transforming growth factor beta-3 proprotein isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	18243111	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	19073914	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1326540	GOA
enables transforming growth factor beta binding	IDA IDA: Inferred from direct assay	18243111	GOA
enables type I transforming growth factor beta receptor binding	IDA IDA: Inferred from direct assay	18243111	GOA
enables type II transforming growth factor beta receptor binding	IDA IDA: Inferred from direct assay	11157754	GOA
enables type II transforming growth factor beta receptor binding	IMP IMP: Inferred from mutant phenotype	8167376	GOA
enables type II transforming growth factor beta receptor binding	IPI IPI: Inferred from physical interaction	1333888	GOA
enables type III transforming growth factor beta receptor binding	IMP IMP: Inferred from mutant phenotype	8167376	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell-cell junction organization	IDA IDA: Inferred from direct assay	18505915	GOA
involved in detection of hypoxia	IDA IDA: Inferred from direct assay	18156205	GOA
involved in face morphogenesis	IMP IMP: Inferred from mutant phenotype	12651933	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	11158066	GOA
involved in negative regulation of macrophage cytokine production	IDA IDA: Inferred from direct assay	20875417	GOA
involved in negative regulation of vascular associated smooth muscle cell proliferation	IDA IDA: Inferred from direct assay	26315405	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18156205	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	11158066	GOA
involved in positive regulation of collagen biosynthetic process	IMP IMP: Inferred from mutant phenotype	11158066	GOA
involved in positive regulation of epithelial to mesenchymal transition	IDA IDA: Inferred from direct assay	18505915	GOA
involved in positive regulation of protein secretion	IDA IDA: Inferred from direct assay	18505915	GOA
involved in positive regulation of stress fiber assembly	IDA IDA: Inferred from direct assay	18718461	GOA
involved in positive regulation of tight junction disassembly	IDA IDA: Inferred from direct assay	18718461	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	18156205	GOA
involved in response to progesterone	IDA IDA: Inferred from direct assay	18039789	GOA
involved in salivary gland morphogenesis	IEP IEP: Inferred from expression pattern	18080134	GOA
involved in transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	11157754	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	18049952	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

TGFB3 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
412 a.a.

Protein Preferred Names

Protein Names

transforming growth factor beta-3 proprotein

prepro-transforming growth factor beta-3

Recombinant TGFB3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7120	TGF beta 3/TGFB3 Protein, Human/Mouse/Rat (HEK293)	P10600 (A301-S412,Y340F)	≥95%
HY-P700152AF	Animal-Free TGF beta 3/TGFB3 Protein, Human (His)	P10600 (A301-S412)	≥95%
HY-P700786	TGF beta 3/TGFB3 Protein, Human (HEK293, Avi)	P10600-1 (A301-S412)	≥95%
HY-P700890	Latent TGF beta 3/Latent TGFB3 Protein, Human (HEK293, His)	P10600-1 (L24-S412)	≥95%
HY-P701080	Latent TGF beta 3/Latent TGFB3 Protein, Human (Biotinylated, HEK293, His)	P10600-1 (L24-S412)	≥95%

Related Diseases

Diseases

Alias

Loeys-Dietz Syndrome 5

Rienhoff Syndrome	LDS5
Rnhf	Reinhoff Syndrome
Loeys-Dietz Syndrome, Type 5

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1	Uhl Anomaly
Arrhythmogenic Right Ventricular Cardiomyopathy 1	Arvc1
ARVD1	Cardiomyopathy Right Ventricular Dilated
Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Loeys-Dietz Syndrome 4

LDS4	Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome Type 4	Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome, Type 4

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm	Annuloaortic Ectasia
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Familial Aortic Dissection
Familial Taad	Familial Thoracic Aortic Aneurysm
Congenital Aneurysm Of Ascending Aorta	Familial Aortic Aneurysm
Familial Thoracic Aortic Aneurysm And Dissection	Aortic Aneurysm, Thoracic
AAT1	Faa1
Aortic Dissection, Familial	Aortic Aneurysm, Familial Thoracic
Aneurysm, Thoracic Aortic	Faa
Ftaad	Taa
Taad	Cystic Medial Necrosis Of Aorta
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection	Aortic Aneurysm Thoracic
Familial Aortic Aneurysms	Aneurysm, Aortic, Thoracic, Familial, Type 1
Aneurysm Of Thoracic Aorta	Intrathoracic Aneurysm
Thoracic Aorta Aneurysm	Thoracic Aortic Aneurysm Without Rupture
Thoracic Aneurysm	Thorax Arterial Aneurysm
Thoracic Artery Aneurysm	Thoracic Arterial Aneurysm
Thorax Aneurysm	Thorax Aortic Aneurysm
Dissection Of Thoracic Aorta

Cleft Lip

Cheiloschisis	Labium Leporinum
Cleft Lip, Unilateral, Complete	Complete Unilateral Cleft Lip
Hare Lip	Congenital Fissure Of Lip
Isolated Cleft Lip	Cleft Lip Without Cleft Palate
Cleft Lip Without Cleft Palate, Unilateral	Isolated Cleft Lip, Unilateral
Cleft Lip Without Cleft Palate, Bilateral	Isolated Cleft Lip, Bilateral

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome	Lds
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies	Furlong Syndrome

Mitral Valve Disease

Chronic Rheumatic Mitral Valve	Rheumatic Mitral Insufficiency
Disease Of Mitral Valve	Mitral Rh Valve Dis.
Rheumatic Disease Of Mitral Valve	Rheumatic Mitral Valve Changes
Rheumatic Mitral Valve Incompetence	Rheumatic Mitral Valve Regurgitation
Abnormality Of The Mitral Valve	Diseases Of Mitral Valve
Rheumatic Mitral Regurgitation

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

Leiomyoma

Leiomyomatous Neoplasm	Leiomyomatous Tumor
Leiomyomas	Fibroid Tumor
Uterine Fibroids

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 Keratopathy

Bk - [Bullous Keratopathy]

Aortic Dissection

Acute Diffuse Nephritis

Acute Diffuse Glomerulonephritis

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Venous Insufficiency

Peripheral Venous Insufficiency

Hellp Syndrome

Hemolysis, Elevated Liver Enzymes, Lowered Platelets	Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy
Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome	Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet]
Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome

Aortic Valve Disease 1

Aortic Valve Disease	Bicuspid Aortic Valve
Aortic Valve Disorder	AOVD1
Bav	Bicuspid Aortic Valve Disease
Familial Bicuspid Aortic Valve	Aortic Valve Calcification
Aovd	Aortic Valve, Bicuspid
Aortic Valve, Calcification Of	Aortic Stenosis, Calcific
Familial Bav	Calcific Aortic Stenosis
Calcification Of Aortic Valve	Abnormality Of The Aortic Valve
Aortic Valve Disease, Type 1	Aortic Valve Disease 2
Bicommissural Aortic Valve

Loeys-Dietz Syndrome 3

LDS3	Aneurysms-Osteoarthritis Syndrome
Loeys-Dietz Syndrome With Osteoarthritis	Aneurysm-Osteoarthritis Syndrome
Lds1c	Loeys-Dietz Syndrome, Type 3
Loeys-Dietz Syndrome, Type 1c, Formerly	Lds1c, Formerly
Loeys-Dietz Syndrome Type 1c	Loeys-Dietz Syndrome Type 3
Aneurysm - Osteoarthritis Syndrome	Loeys-Dietz Syndrome, Type 1c
Aos	Loeys-Dietz Syndrome 1c

Pre-Eclampsia

Preeclampsia	Gestational Hypertension
Hypertension Induced By Pregnancy	Pre-Eclamptic Toxaemia
Pregnancy Associated Hypertension	Proteinuric Hypertension Of Pregnancy
Hypertension, Pregnancy-Induced, Susceptibility To	Preeclampsia/Eclampsia
Pregnancy Toxemia	Toxaemia Of Pregnancy
Gestational Proteinuric Hypertension	Pregnancy-Induced Hypertension
Toxemia Of Pregnancy	Preeclampsia, Susceptibility To
Transient Hypertension Of Pregnancy	Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria
Gestational Hypertension Nos	Mild Proteinuric Hypertension Of Pregnancy
Pih - [Pregnancy-Induced Hypertension]	Pregnancy-Induced Hypertension Nos
Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria	Pe - [Pre-Eclampsia]
Pre-Eclampsia Nos	Pre-Eclamptic Nos
Pregnancy Pre-Eclampsia	Puerperal Pre-Eclampsia
Pre-Eclampsia Toxaemia	Toxaemia In Pregnancy
Pet - [Pre-Eclamptic Toxaemia]	Maternal Toxaemia

Renal Fibrosis

Fibrochondrogenesis

Fbcg1	Fbcg2
Fibrochondrogenesis-1	Fibrochondrogenesis-2
Fibrochondrogenesis 1	Fibrochondrogenesis 2

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Arrhythmogenic Right Ventricular Dysplasia 8	ARVD8
Arrhythmogenic Right Ventricular Cardiomyopathy 8	Arvc8
Familial Arrhythmogenic Right Ventricular Dysplasia 8	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia	CMDD
Cmdj	Cmd
Autosomal Dominant Craniometaphyseal Dysplasia	Craniometaphyseal Dysplasia, Jackson Type
Craniometaphyseal Dysplasia Jackson Type	Autosomal Recessive Craniometaphyseal Dysplasia
Cmdr	Dysplasia, Craniometaphyseal, Autosomal Dominant
Craniometaphyseal Dysplasia, Autosomal Recessive Type

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Arrhythmogenic Right Ventricular Dysplasia 6	ARVD6
Arrhythmogenic Right Ventricular Cardiomyopathy 6	Arvc6
Familial Arrhythmogenic Right Ventricular Dysplasia 6	Arrhythmogenic Right Ventricular Dysplasia-6

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Arrhythmogenic Right Ventricular Dysplasia 4	ARVD4
Arrhythmogenic Right Ventricular Cardiomyopathy 4	Arvc4
Familial Arrhythmogenic Right Ventricular Dysplasia 4	Arrhythmogenic Right Ventricular Dysplasia-4

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Arrhythmogenic Right Ventricular Dysplasia 5	ARVD5
Arrhythmogenic Right Ventricular Cardiomyopathy 5	Arvc5
Familial Arrhythmogenic Right Ventricular Dysplasia 5	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9	ARVD9
Arrhythmogenic Right Ventricular Cardiomyopathy 9	Arvc9
Familial Arrhythmogenic Right Ventricular Dysplasia 9	Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome	Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair
DCWHK	Dilated Cardiomyopathy With Woolly Hair And Keratoderma
Cardiomyopathy Dilated With Woolly Hair And Keratoderma	Kwwh Type Ii
Keratoderma With Woolly Hair Type Ii	Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome	Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome	Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy
Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy	Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Naxos Disease

Mal De Naxos	NXD
Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities	Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair	Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy
Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy	Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities	Kwwh Type I
Keratoderma With Woolly Hair Type I	Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy
Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Clubfoot

Congenital Talipes Equinovarus	Congenital Clubfoot
Congenital Equinovarus	Equinovarus Deformity Of Foot
Club Foot

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2	ARVD2
Arrhythmogenic Right Ventricular Cardiomyopathy 2	Arvc2
Familial Arrhythmogenic Right Ventricular Dysplasia 2	Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Aortic Aneurysm

Aortic Rupture	Thoracoabdominal Aortic Aneurysm, Ruptured
Ruptured Aortic Aneurysm	Aortic Aneurysms
Aortic Aneurysm Without Mention Of Rupture Nos	Ruptured Abdominal Aortic Aneurysm
Aortic Aneurysm, Ruptured	Ruptured Thoracic Aortic Aneurysm

Van Der Woude Syndrome

Lip-Pit Syndrome	Vws
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip	Vdws
Lps	Lip Pit Syndrome
Cleft Lip/Palate With Mucous Cysts Of Lower Lip	Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Arrhythmogenic Right Ventricular Dysplasia 12	ARVD12
Arrhythmogenic Right Ventricular Cardiomyopathy 12	Arvc12
Familial Arrhythmogenic Right Ventricular Dysplasia 12	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12

Orofacial Cleft

Cleft, Orofacial

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Tracheal Stenosis

Stenosis Of Trachea

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Arrhythmogenic Right Ventricular Dysplasia 10	ARVD10
Arrhythmogenic Right Ventricular Cardiomyopathy 10	Arvc10
Familial Arrhythmogenic Right Ventricular Dysplasia 10	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10

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

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

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

Tricuspid Valve Prolapse

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

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

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

Bamforth-Lazarus Syndrome	Bamforth Syndrome
Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate	Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome	Hypothyroidism-Cleft Palate Syndrome
BLS	Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Uterine Benign Neoplasm

Cartilage Disease

Cartilage Diseases	Cartilage
Cartilage Disorder	Chondropathy
Cartilage Disorders

Cleft Soft Palate

Cleft Velum	Cleft Velum Palatinum
Soft Cleft Palate	Soft Palate Perforation

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Endometrial Cancer

Endometrial Carcinoma	Endometrial Neoplasm
Malignant Neoplasm Of Endometrium	Endometrioid Carcinoma
Endometrial Neoplasms	Carcinoma, Endometrioid
Endometrial Cancer, Familial	Endometrial Carcinoma, Somatic
Endometrial Cancer, Susceptibility To	Endometrial Ca
Malignant Endometrial Neoplasm	Neoplasm Of Endometrium
Primary Malignant Neoplasm Of Endometrium	Tumor Of Endometrium
Carcinoma Of The Endometrium	Endometrioid Carcinoma Of Female Reproductive System
ENDMC	Carcinoma Endometrioid
Endometrial Cancers	Cancer, Endometrial
Uterine Corpus Cancer

Reproductive Organ Benign Neoplasm

Spastic Paraplegia 76, Autosomal Recessive

SPG76	Autosomal Recessive Spastic Paraplegia Type 76
Hereditary Spastic Paraplegia 76	Autosomal Recessive Spastic Paraplegia 76
Paraplegia, Spastic, Autosomal Recessive, Type 76

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

Cardiac Tuberculosis

Tuberculosis, Cardiovascular

Cardiovascular Tuberculosis

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease	Hht
Osler-Weber-Rendu Disease	Telangiectasia, Hereditary Hemorrhagic
Osler Hemorrhagic Telangiectasia Syndrome	Orw Disease
Osler Weber Rendu Syndrome	Osler-Rendu-Weber Disease
Osler-Weber-Rendu Syndrome	Rendu-Osler Disease
Telangiectasia Hereditary Hemorrhagic	Telangiectasia Hemorrhagic, Hereditary
Hht - [Hereditary Haemorrhagic Telangiectasia]	Osler Haemorrhagic Telangiectasia Syndrome

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis	Ipf
Fibrocystic Pulmonary Dysplasia	Pulmonary Fibrosis, Idiopathic
Pulmonary Fibrosis, Idiopathic, Susceptibility To	Cryptogenic Fibrosing Alveolitis
ILD2	Idiopathic Pulmonary Fibrosis, Familial
Fibrosing Alveolitis, Cryptogenic	Uip
Fibrosing Alveolitis	Interstitial Pneumonitis, Usual
Familial Idiopathic Pulmonary Fibrosis	Idiopathic Fibrosing Alveolitis, Chronic Form
Usual Interstitial Pneumonia	Fibrosing Alveolitis Cryptogenic
Hamman-Rich Disease	Idiopathic Pulmonary Fibrosis Familial
Interstitial Pneumonitis Usual	Fibrosis Idiopathic Pulmonary
Fibrosis, Pulmonary, Idiopathic	Hamman-Rich Syndrome
Chronic Idiopathic Pulmonary Fibrosis	Acute Interstitial Pneumonia
Interstitial Pulmonary Fibrosis	Ipf - [Idiopathic Pulmonary Fibrosis]
Idiopathic Lung Fibrosis	Fibrosing Lung Disease
Pulmonary Fibrosis Nos	Fibrosing Pneumonitis

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14442	TGFB3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TGFB3	VGNC	VGNC:35803
Rattus norvegicus	TGFB3	RGD	RGD:3851
Canis familiaris	TGFB3	VGNC	VGNC:47310
Macaca mulatta	TGFB3	VGNC	VGNC:78335
Mus musculus	TGFB3	MGD	MGI:98727
Felis catus	TGFB3	VGNC	VGNC:66133
Others	TGFB3	NCBI