TGFB3 - transforming growth factor beta 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7043

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

TGFb_propeptide: TGF-beta propeptide (23 - 225)

TGF_beta

TGF_beta: Transforming growth factor beta like domain (313 - 412)

  • 0
  • 100
  • 200
  • 300
  • 412 a.a.
Protein Preferred Names Protein Names

transforming growth factor beta-3 proprotein

  • prepro-transforming growth factor beta-3

TGFB3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TGFB3 P10600 ZMYM3 Homo sapiens Q14202 30021884
Intra
TGFB3 P10600 TGFBR3 Homo sapiens Q03167
SPR
21423151
Intra
TGFB3 P10600 TGFBR2 Homo sapiens P37173
GMS
21423151
Intra
TGFB3 P10600 SDC4 Homo sapiens P31431 21988832
Intra
TGFB3 P10600 TGFBR1 Homo sapiens P36897
SPR
21423151
Intra
TGFB3 P10600 TGFBR2 Homo sapiens P37173 11850637
Intra
TGFB3 P10600 TGFBR1 Homo sapiens P36897 21423151
Intra
TGFB3 P10600 TGFBR1 Homo sapiens P36897 21423151
Intra
TGFB3 P10600 TGFB3 Homo sapiens P10600 21423151
Intra
TGFB3 P10600 TGFBR2 Homo sapiens P37173
SPR
21423151
Intra
TGFB3 P10600 TGFB3 Homo sapiens P10600 19073914
Intra
TGFB3 P10600 TGFBR2 Homo sapiens P37173 21423151
Intra
TGFB3 P10600 TGFBR1 Homo sapiens P36897
GMS
21423151
Intra
TGFB3 P10600 TGFBR2 Homo sapiens P37173 21423151
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TGFB3 Proteins

Cat. No. Product Name Accession Purity
HY-P7120 TGF beta 3/TGFB3 Protein, Human (HEK293) P10600-1 (A301-S412) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P78802 Latent TGF beta 3/Latent TGFB3 Protein, Human (Biotinylated, HEK293, His-Avi) P10600-1 (L24-S412) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P700152AF Animal-Free TGF beta 3/TGFB3 Protein, Human (His) P10600-1 (A301-S412) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P700786 TGF beta 3/TGFB3 Protein, Human (Biotinylated, HEK293, Avi) P10600-1 (A301-S412) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P700890 Latent TGF beta 3/Latent TGFB3 Protein, Human (HEK293, His) P10600-1 (L24-S412) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P701080 Latent TGF beta 3/Latent TGFB3 Protein, Human (Biotinylated, HEK293, His) P10600-1 (L24-S412) ≥ 95%, as determined by reducing SDS-PAGE.

TGFB3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86472 TGF beta 1/TGF beta 3 Antibody (YA6164) WB, ICC/IF, IP, ELISA Human, Mouse, Rat
HY-P87104 TGF beta 3 Antibody (YA6797) WB, ICC/IF, IHC-P Human, Mouse, Rat

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

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

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