1. Gene
  2. TWIST1 - twist family bHLH transcription factor 1 Gene

TWIST1 - twist family bHLH transcription factor 1 Gene

Homo sapiens

Also known as CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; SWCOS; TWIST; bHLHa38

Gene ID: 7291 | Gene type: protein coding

About TWIST1

Cytogenetic location: 7p21.1 Genomic coordinates (GRCh38): 7:19,113,047-19,117,636 (from NCBI)

This gene has 3 transcripts (splice variants), 124 orthologues, 13 paralogues and is associated with 8 phenotypes. Biased expression in fat (RPKM 17.1), endometrium (RPKM 12.4) and 10 other tissues.

Summary

This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]

TWIST1 Products(1)

mRNA Protein Name
NM_000474.4 NP_000465.1 twist-related protein 1

TWIST1 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (109 - 159)

  • 0
  • 100
  • 202 a.a.
Protein Preferred Names Protein Names

twist-related protein 1

B-HLH DNA binding protein

Related Diseases

Diseases Alias
Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome

Sweeney-Cox Syndrome

SWCOS

Craniosynostosis 1

CRS

Congenital Rubella Syndrome

Craniostenosis

Congenital Rubella

CRS1

Craniosynostosis, Type 1

Rubella Congenital

Fetal Rubella Syndrome

Mother-To-Child Transmission Of Rubella Syndrome

Rubella, Congenital

Craniosynostosis

Gregg Syndrome

Robinow-Sorauf Syndrome

Craniosynostosis-Bifid Hallux Syndrome

Acrocephalosyndactyly, Robinow-Sorauf Type

RSS

Acrocephalosyndactyly Robinow-Sorauf Type

Robinow Sorauf Syndrome

Non-Syndromic Sagittal Craniosynostosis

Isolated Sagittal Craniosynostosis

Isolated Scaphocephaly

Non-Syndromic Sagittal Suture Synostosis

Non-Syndromic Bicoronal Craniosynostosis

Isolated Bicoronal Craniosynostosis

Isolated Brachycephaly

Non-Syndromic Bilateral Coronal Suture Synostosis

Synostosis
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

Baller-Gerold Syndrome

BGS

Craniosynostosis With Radial Defects

Craniosynostosis-Radial Aplasia Syndrome

Craniosynostosis Radial Aplasia Syndrome

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Muenke Syndrome

Muenke Nonsyndromic Coronal Craniosynostosis

Fgfr3-Related Craniosynostosis

Fgfr3-Associated Coronal Synostosis

Coronal Craniosynostosis

MNKES

Syndrome Of Coronal Craniosynostosis

MNKS

Fgfr3-Related Isolated Coronal Synostosis

Muenke Non-Syndromic Coronal Craniosynostosis

Pfeiffer Syndrome

Infectious Mononucleosis

Acs5

Craniofacial-Skeletal-Dermatologic Dysplasia

Acs V

Noack Syndrome

Gammaherpesviral Mononucleosis

Acrocephalosyndactyly Type 5

Pfeiffer Syndrome Type 3

Acrocephalosyndactyly, Type V

Glandular Fever

Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome Type 2

Acrocephalosyndactylia Type V

Filatov'S Disease

Monocytic Angina

Mononucleosis

Pfeiffer'S Disease

Acsv

Acrocephalosyndactyly, Type 5

Craniofacial-Skeletal-Dermatologic Syndrome

Pfeiffer Syndrome Type 1

Classic Pfeiffer Syndrome

PS

Pfeiffer Syndrome Variant

Dysplasia, Craniofacial-Skeletal-Dermatologic

Pfeiffer

Kissing Disease

Infectious Adenitis

Pfeiffer Disease

Blepharophimosis
Parietal Foramina

Enlarged Parietal Foramina

Hereditary Cranium Bifidum

Symmetric Parietal Foramina

Catlin Marks

Foramina Parietalia Permagna

Caitlin Marks

Cranium Bifidum

Cranium Bifidum Occultum

Fenestrae Parietals Symmetricae

Fpp

Giant Parietal Foramina

Pfm

Fenestrae Parietales Symmetricae

Foramina, Parietal

Dysostosis

Dysostoses

Intracranial Hypertension

Raised Intracranial Pressure

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Nasopharyngeal Carcinoma

Malignant Neoplasm Of Nasopharynx

Npc

Nasopharyngeal Cancer

Nasopharyngeal Carcinoma 1

Nasopharynx Carcinoma

Nasopharyngeal Neoplasms

Npca

Carcinoma Of Nasopharynx

Malignant Nasopharyngeal Tumor

Nasopharynx Cancer

Squamous Cell Carcinoma Of The Nasopharynx

Nasopharyngeal Neoplasm

Cancer Of Nasopharynx

Apert Syndrome

Acrocephalosyndactyly Type I

Acs1

Acrocephalosyndactylia

Acrocephalosyndactyly

Acs I

Apert-Crouzon Disease

Acrocephalosyndactyly Type 1

Acrocephalosyndactyly, Type I

Acs 1

Acrocephalo-Syndactyly Type 1

Syndactylic Oxycephaly

Apert'S Syndrome

Type I Acrocephalosyndactyly

APRS

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

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach 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

Hepatitis D

Delta Hepatitis

Hepatitis Delta

Hdv

Hepatitis D Virus

Hepatitis D Infection

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

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

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Crouzon Syndrome

Crouzon Craniofacial Dysostosis

Craniofacial Dysostosis

Cfd1

Craniofacial Dysostosis Type 1

Crouzon Disease

Crouzon'S Disease

Craniofacial Dysostosis, Type I

Craniofacial Dysarthrosis

Craniofacial Dysostosis Syndrome

CS

Craniofacial Dysostosis Type I

Vogt Cephalosyndactyly

Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

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

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

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

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

Bone Development Disease
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

Carcinoma, Hepatocellular

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

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Hypertelorism, Microtia, Facial Clefting Syndrome

Hmc Syndrome

Bixler Christian Gorlin Syndrome

Bixler-Christian-Gorlin Syndrome

Hypertelorism-Microtia-Facial Clefting Syndrome

Bixler Syndrome

Hypertelorism-Microtia-Clefting Syndrome

Hypertelorism Microtia Facial Clefting Syndrome

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

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Carpenter Syndrome 1

Carpenter Syndrome

Acrocephalopolysyndactyly Type Ii

Acps Ii

CRPT1

Acrocephalopolysyndactyly Type 2

Acrocephalosyndactyly, Type Ii

Acrocephalopolysyndactyly 2

Acps2

Acps 2

Type Ii Acrocephalosyndactyly

Carpenter Syndrome, Type 1

Apert-Crouzon Disease

Jackson-Weiss Syndrome

JWS

Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 TWIST1 VGNC VGNC:36525
Felis catus TWIST1 VGNC VGNC:80750
Rattus norvegicus TWIST1 RGD RGD:621455
Mus musculus TWIST1 MGD MGI:98872