TWIST2 - twist family bHLH transcription factor 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 117581

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18598946	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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	References
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15282	TWIST2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21968	Twist2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28485	Twist2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TWIST2	NCBI