1. Gene
  2. TGFBR1 - transforming growth factor beta receptor 1 Gene

TGFBR1 - transforming growth factor beta receptor 1 Gene

Homo sapiens

Also known as AAT5; ALK5; ESS1; LDS1; MSSE; SKR4; TBRI; ALK-5; LDS1A; LDS2A; TBR-i; TGFR-1; ACVRLK4; tbetaR-I

Gene ID: 7046 | Gene type: protein coding

About TGFBR1

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:99,104,038-99,154,192 (from NCBI)

This gene has 13 transcripts (splice variants), 236 orthologues, 11 paralogues and is associated with 7 phenotypes. Ubiquitous expression in placenta (RPKM 13.6), gall bladder (RPKM 8.0) and 24 other tissues.

Summary

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

TGFBR1 Products(30)

mRNA Protein Name
NM_001407437.1 NP_001394366.1 TGF-beta receptor type-1 isoform 11 precursor
NM_001407426.1 NP_001394355.1 TGF-beta receptor type-1 isoform 7
NM_001407424.1 NP_001394353.1 TGF-beta receptor type-1 isoform 7
NM_001407438.1 NP_001394367.1 TGF-beta receptor type-1 isoform 10 precursor
NM_001407434.1 NP_001394363.1 TGF-beta receptor type-1 isoform 7
NM_001407417.1 NP_001394346.1 TGF-beta receptor type-1 isoform 5 precursor
NM_001407418.1 NP_001394347.1 TGF-beta receptor type-1 isoform 6
XM_011518949.3 XP_011517251.1 TGF-beta receptor type-1 isoform X2
NM_001407430.1 NP_001394359.1 TGF-beta receptor type-1 isoform 7
NM_001407423.1 NP_001394352.1 TGF-beta receptor type-1 isoform 7
NM_001407429.1 NP_001394358.1 TGF-beta receptor type-1 isoform 7
NM_001407432.1 NP_001394361.1 TGF-beta receptor type-1 isoform 7
NM_001407422.1 NP_001394351.1 TGF-beta receptor type-1 isoform 6
NM_001407436.1 NP_001394365.1 TGF-beta receptor type-1 isoform 9 precursor
NM_001407420.1 NP_001394349.1 TGF-beta receptor type-1 isoform 6
NM_001407427.1 NP_001394356.1 TGF-beta receptor type-1 isoform 7
NM_001306210.2 NP_001293139.1 TGF-beta receptor type-1 isoform 3 precursor
NR_176360.1
NM_001407435.1 NP_001394364.1 TGF-beta receptor type-1 isoform 8 precursor
NR_176362.1
NR_176361.1
NM_001130916.3 NP_001124388.1 TGF-beta receptor type-1 isoform 2 precursor
NM_001407425.1 NP_001394354.1 TGF-beta receptor type-1 isoform 7
NM_001407416.1 NP_001394345.1 TGF-beta receptor type-1 isoform 4 precursor
NM_004612.4 NP_004603.1 TGF-beta receptor type-1 isoform 1 precursor
NM_001407428.1 NP_001394357.1 TGF-beta receptor type-1 isoform 7
NM_001407433.1 NP_001394362.1 TGF-beta receptor type-1 isoform 7
NM_001407419.1 NP_001394348.1 TGF-beta receptor type-1 isoform 6
XM_011518948.3 XP_011517250.1 TGF-beta receptor type-1 isoform X1
NR_176363.1

TGFBR1 Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (34 - 112)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (175 - 203)

Pkinase

Pkinase: Protein kinase domain (207 - 490)

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  • 503 a.a.
Protein Preferred Names Protein Names

TGF-beta receptor type-1

activin A receptor type II-like kinase, 53kDa

activin A receptor type II-like protein kinase of 53kD

activin receptor-like kinase 5

mutant transforming growth factor beta receptor I

serine/threonine-protein kinase receptor R4

transforming growth factor beta receptor I

transforming growth factor-beta receptor type I

Recombinant TGFBR1 Proteins

Cat. No. Product Name Accession Purity
HY-P72453 TGFBR1/ALK-5 Protein, Human (HEK293, Fc) P36897 (L34-E125) ≥95%
HY-P74522 TGFBR1/ALK-5 Protein, Human (sf9, His-GST) P36897 (T200-M503) ≥95%
HY-P74523 TGFBR1/ALK-5 Protein, Human (HEK293, His-Fc) P36897-1 (L34-E125) ≥95%
HY-P74524 TGFBR1/ALK-5 Protein, Human (126a.a, HEK293, Fc) P36897 (M1-L126) ≥95%
HY-P78525 TGFBR1/ALK-5 Protein, Human (HEK293, mFc-Avi) P36897-1 (L34-E125) ≥95%

Related Diseases

Diseases Alias
Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Gastric Cancer

Stomach Cancer

Stomach Carcinoma

Gastric Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Camurati-Engelmann Disease

Progressive Diaphyseal Dysplasia

Ced

Engelmann Disease

Diaphyseal Dysplasia 1, Progressive

Pdd

Diaphyseal Dysplasia

Dpd1

Camurati-Engelmann Syndrome

CAEND

Engelman'S Disease

Diaphyseal Hyperostosis

Diaphyseal Osteosclerosis

Pulsating Exophthalmos
Multiple Self-Healing Squamous Epithelioma

MSSE

Ess1

Ferguson-Smith Type Epithelioma

Ferguson-Smith Disease

Self-Healing Squamous Epithelioma Type 1

Multiple Self-Healing Squamous Epithelioma, Susceptibility To

Ferguson-Smith-Type Epithelioma

Ess1, Formerly

Multiple Self Healing Squamous Epithelioma

Familial Primary Self-Healing Squamous Epithelioma Of The Skin, Ferguson-Smith Type

Multiple Keratoacanthoma, Ferguson-Smith Type

Epithelioma, Squamous, Multiple Self Healing

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

Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification

Microphthalmia, Syndromic 6

MCOPS6

Microphthalmia And Pituitary Anomalies

Microphthalmia With Brain And Digit Anomalies

Microphthalmia With Brain And Digit Developmental Anomalies

Syndromic Microphthalmia Type 6

Syndromic Microphthalmia 6

Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia

Bakrania-Ragge Syndrome

Orofacial Cleft 11

Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia

Microphthalmia Syndromic 6

Microphthalmia, Syndromic, 6

Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia

Microphthalmia Syndromic, Type 6

Collagen Disease

Collagen Diseases

Collagen Disorder

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

Loeys-Dietz Syndrome 5

Rienhoff Syndrome

LDS5

Rnhf

Reinhoff Syndrome

Loeys-Dietz Syndrome, Type 5

Loeys-Dietz Syndrome 1

Furlong Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

LDS1

Aat5

Loeys-Dietz Syndrome Type 1

Aortic Aneurysm, Familial Thoracic 5

Familial Throacic Aortic Aneurysm 5

Loeys-Dietz Syndrome

Aortic Aneurysm Syndrome, Loeys-Dietz Type

Familial Thoracic Aortic Aneurysm 5

Ldas

Marfanoid Disorder-Craniosynostosis Syndrome

Aneurysm, Aortic, Thoracic, Familial, Type 5

Loeys-Dietz Syndrome, Type 1

Loeys-Dietz Syndrome, Type 2a

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

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

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

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

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Mitochondrial Dna Depletion Syndrome 12b
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

Aortic Dissection
Orofacial Cleft

Cleft, Orofacial

Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Cryptogenic Fibrosing Alveolitis

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

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of 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

Cancer 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

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

Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec

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

Telangiectasis

Telangiectasia

Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1

Contractural Arachnodactyly, Congenital

Congenital Contractural Arachnodactyly

Beals Syndrome

CCA

Beals-Hecht Syndrome

Distal Arthrogryposis Type 9

Arthrogryposis, Distal, Type 9

Da9

Arachnodactyly, Contractural Beals Type

Contractures, Multiple With Arachnodactyly

Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis

Arthrogyroposis, Distal, Type 9

Distal Arthrogyropsis Type 9

Cca Syndrome

Arachnodactyly

Hepatitis C

Chronic Hepatitis C

Hepatitis C Infection

Hepatitis Nona Nonb

Nanbh

Viral Hepatitis C

Hepatitis C Chronic

Hepatitis C, Chronic

Chronic Type C Viral Hepatitis

Chronic Hcv - [Hepatitis C Virus] Infection

Hepatitis C Nos

Hepatitis C Infection Nos

Hepatitis C-Related Cirrhosis

Type C Viral Hepatitis

Hep C Nos

Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm 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

Cancer Of The Pancreas

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

Loeys-Dietz Syndrome 2

LDS2

Aat3

Marfan Syndrome Type 2

Aortic Aneurysm, Familial Thoracic 3

Marfan Syndrome Type Ii

Loeys-Dietz Syndrome Type 2

Mfs2

Marfan Syndrome, Type Ii, Formerly

Familial Throacic Aortic Aneurysm 3

Familial Aortic Aneurysm Thoracic Type 3

Taad2

Thoracic Aortic Aneurysms And Dissection 2

Aneurysm, Aortic, Thoracic, Familial, Type 3

Loeys-Dietz Syndrome, Type 2

Tricuspid Valve Prolapse
Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Head And Neck Cancer

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Cancer, Head/Neck

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

Classic Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Classic Type

Classical Ehlers-Danlos Syndrome

Eds, Classic Type

Ehlers-Danlos Syndrome Type 1

Ehlers-Danlos Syndrome Type 2

Classical Eds

Ceds

Ehlers-Danlos Syndrome, Type 2

Obstructive Nephropathy

Con

Congenital Obstructive Nephropathy

Nephropathy Obstructive

Arterial Tortuosity Syndrome

Arterial Tortuosity

Ats

ATORS

Tortuosity, Arterial, Syndrome

Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic 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

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

Renal Fibrosis
Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

Aortic Valve Insufficiency

Aortic Regurgitation

Rheumatic Aortic Regurgitation

Aortic Insufficiency

Rheumatic Aortic Insufficiency

Rheumatic Aortic Valve Insufficiency

Aortic Incompetence

Corrigan'S Disease

Rheumatic Aortic Valve Regurgitation

Aortic Valve Incompetency

Ai - [Aortic Incompetence]

Incompetent Aortic Valve

Ar - [Aortic Regurgitation]

Calcific Aortic Valve Regurgitation

Myxomatous Aortic Valve Regurgitation

Annular Incompetency Of Aortic Valve

Austin Flint Murmur

Flint Murmur

Rheumatic Aortic Incompetence

Rheumatic Ai - [Aortic Insufficiency]

Aortic Aneurysm, Familial Thoracic 4

AAT4

Faa4

Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus

Familial Aortic Aneurysm 4

Non-Syndromic Thoracic Aortic Aneurysms And Dissection

Taad

Thoracic Aortic Aneurysms And Dissection

Thoracic Aortic Aneurysms And Dissections

Aneurysm, Aortic, Thoracic, Familial, Type 4

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Degeneration

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Aortic Disease

Aortic Diseases

Aortic Disorder

Disorder Of The Aorta

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

Subclavian Artery Aneurysm

Aneurysm Of Subclavian Artery

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

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

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
Felis catus TGFBR1 VGNC VGNC:66135
Canis familiaris TGFBR1 VGNC VGNC:51764
Bos taurus TGFBR1 VGNC VGNC:35804
Macaca mulatta TGFBR1 VGNC VGNC:78337
Rattus norvegicus TGFBR1 RGD RGD:3852
Mus musculus TGFBR1 MGD MGI:98728
Others TGFBR1 NCBI