2. Gene
  3. TWIST2 - twist family bHLH transcription factor 2 Gene

TWIST2 - twist family bHLH transcription factor 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AMS; FFDD3; BBRSAY; DERMO1; SETLSS; bHLHa39

Gene ID: 117581 | Gene type: protein coding

About TWIST2

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:238,848,085-238,910,534 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 208 orthologues, 13 paralogues and is associated with 8 phenotypes. Biased expression in fat (RPKM 11.9), endometrium (RPKM 7.9) and 10 other tissues.

Summary

The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]

TWIST2 Products(2)

mRNA Protein Name
NM_001271893.4 NP_001258822.1 twist-related protein 2
NM_057179.3 NP_476527.1 twist-related protein 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
18598946 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of osteoblast differentiation IDA
IDA: Inferred from direct assay
11062344 GOA
involved in positive regulation of cell migration IGI
IGI: Inferred from genetic interaction
24171926 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11062344 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11062344 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

TWIST2 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (67 - 117)

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

twist-related protein 2

class A basic helix-loop-helix protein 39

TWIST2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra TWIST2 Q8WVJ9 TCF12 Homo sapiens Q99081-3
Validated Y2H
32296183
Intra TWIST2 Q8WVJ9 TCF12 Homo sapiens Q99081-3
Y2H Prey Pooling
32296183
Intra TWIST2 Q8WVJ9 TCF12 Homo sapiens Q99081-3
Y2H Array
32296183
Intra TWIST2 Q8WVJ9 TCF3 Homo sapiens P15923-3
Y2H Prey Pooling
32296183
Intra TWIST2 Q8WVJ9 TCF3 Homo sapiens P15923-3
Y2H Array
32296183
Intra TWIST2 Q8WVJ9 CCM2 Homo sapiens Q9BSQ5
Validated Y2H
25814554
Intra TWIST2 Q8WVJ9 ETS2 Homo sapiens P15036
Anti Tag CoIP
18598946
Intra TWIST2 Q8WVJ9 ETS2 Homo sapiens P15036
Anti Bait CoIP
18598946
Intra TWIST2 Q8WVJ9 DCTN1 Homo sapiens Q14203-5
Y2H Array
32814053
Intra TWIST2 Q8WVJ9 DCTN1 Homo sapiens Q14203-5
Y2H Pooling
32814053
Intra TWIST2 Q8WVJ9 DCTN1 Homo sapiens Q14203-5
Validated Y2H
32814053
Intra TWIST2 Q8WVJ9 PMP22 Homo sapiens A0A6Q8PF08
Y2H Pooling
32814053
Intra TWIST2 Q8WVJ9 PMP22 Homo sapiens A0A6Q8PF08
Validated Y2H
32814053
Intra TWIST2 Q8WVJ9 PMP22 Homo sapiens A0A6Q8PF08
Y2H Array
32814053
Intra TWIST2 Q8WVJ9 TCF4 Homo sapiens P15884
Y2H Prey Pooling
25416956
Intra TWIST2 Q8WVJ9 A2M Homo sapiens P01023
Validated Y2H
32814053
Intra TWIST2 Q8WVJ9 A2M Homo sapiens P01023
Y2H Pooling
32814053
Intra TWIST2 Q8WVJ9 A2M Homo sapiens P01023
Y2H Array
32814053
Intra TWIST2 Q8WVJ9 ATXN10 Homo sapiens Q9UBB4
Validated Y2H
32814053
Intra TWIST2 Q8WVJ9 ATXN10 Homo sapiens Q9UBB4
Y2H Array
32814053
Intra TWIST2 Q8WVJ9 ATXN10 Homo sapiens Q9UBB4
Y2H Pooling
32814053
Intra TWIST2 Q8WVJ9 TCF12 Homo sapiens Q99081
Validated Y2H
25416956
Intra TWIST2 Q8WVJ9 TCF12 Homo sapiens Q99081
Anti Tag CoIP
33961781
Intra TWIST2 Q8WVJ9 TCF12 Homo sapiens Q99081
Y2H Array
25416956
Intra TWIST2 Q8WVJ9 GLIS2 Homo sapiens Q9BZE0
Y2H Array
32296183
Intra TWIST2 Q8WVJ9 GLIS2 Homo sapiens Q9BZE0
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Focal Facial Dermal Dysplasia 3, Setleis Type

Setleis Syndrome

Focal Facial Dermal Dysplasia

Focal Facial Dermal Dysplasia Type Iii

FFDD3

Bitemporal Forceps Marks Syndrome

Facial Ectodermal Dysplasia

Ffdd Type Iii

Focal Facial Dermal Dysplasia Type Ii

Ffdd Type Ii

Focal Facial Dermal Dysplasia, Type Ii, Formerly

Ffdd Type 2

Focal Facial Dermal Dysplasia Type 2

Bitemporal Aplasia Cutis Congenita

Brauer Syndrome

Ffdd, Type 1

Hereditary Symmetrical Aplastic Nevi Of Temples

Ffdd

Ffdd2

Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Dysplasia, Dermal, Facial, Focal

Dysplasia, Dermal, Focal Facial, Type 3

Focal Dermal Hypoplasia

Congenital Ectodermal Dysplasia Of Face
Barber-Say Syndrome

Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia

Barber Say Syndrome

BBRSAY

Bss

Hypertrichosis Atrophic Skin Ectropion Macrostomia

Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome
Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome

AMS

Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies

Eye Abnormalities
Say Syndrome

Cleft Palate, Microcephaly, Large Ears, And Short Stature

Cleft Palate Large Ears Small Head

Say Barber Hobbs Syndrome

Cleft Palate-Large Ears-Small Head Syndrome

Say-Barber-Hobbs Syndrome
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
Ectropion

Ectropion Of Eyelid

Everted Margin

Eversion Of The Eyelid

Eyelashes Turned Out

Eyelid Everted

Eyelid Turned Out

Unspecified Ectropion Of Unspecified Eye
Hyperpigmentation Of The Skin
Sweeney-Cox Syndrome

SWCOS
Partial Trisomy Distal 4q

Distal Trisomy 4q

Chromosome 4, Partial Trisomy 4q

Distal 4q Trisomy

Dup Syndrome, Partial

Duplication 4q Syndrome, Partial

Partial Trisomy 4q Syndrome

Distal Duplication 4q

Telomeric Duplication 4q

Trisomy 4qter
Hypertrichosis
Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive

Congenital Absence Of Skin On The Upper Or Lower Limbs

Recessive Aplasia Cutis Congenita Of The Limbs

Aplasia Cutis Congenita Nonsyndromic

Congenital Defect Of Skull And Scalp

Scalp Defect Congenital
Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal
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
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
Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly

CLSS

Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii
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
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15282 TWIST2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus TWIST2 VGNC VGNC:80396
Mus musculus TWIST2 MGD MGI:104685
Macaca mulatta TWIST2 VGNC VGNC:79267
Rattus norvegicus TWIST2 RGD RGD:621286
Canis familiaris TWIST2 VGNC VGNC:48002
Bos taurus TWIST2 VGNC VGNC:36526