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

TWIST2 - twist family bHLH transcription factor 2 Gene

中文名称:twist 家族 bHLH 转录因子 2

种属: Homo sapiens


基因 ID: 117581 | 基因类型: protein coding


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.


该基因编码的蛋白质是一种基本的螺旋-环-螺旋型转录因子,与 Twist 具有相似性。这种蛋白质可能会抑制成骨细胞的成熟,并在成骨细胞发育过程中将细胞维持在前成骨细胞表型中。该基因可能在某些癌症中被上调。该基因的突变导致局灶性面部真皮发育不良 3,Setleis 型。已发现编码相同蛋白质的两种转录变体。[RefSeq 提供,2014 年 4 月]

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 基因产物(2)

mRNA Protein Name
NM_001271893.4 NP_001258822.1 twist-related protein 2
NM_057179.3 NP_476527.1 twist-related protein 2

TWIST2 蛋白结构


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

  • 0
  • 100
  • 160 a.a.
蛋白主名 其他名称

twist-related protein 2

class A basic helix-loop-helix protein 39


疾病名称 别名
Focal Facial Dermal Dysplasia 3, Setleis Type

Setleis Syndrome

Focal Facial Dermal Dysplasia

Focal Facial Dermal Dysplasia Type Iii


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



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



Hypertrichosis Atrophic Skin Ectropion Macrostomia

Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome

Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome


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



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


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 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


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

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


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




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


Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly


Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii


Premature Closure Of Cranial Sutures


Craniosynostosis Syndrome



Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull


Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

疾病名称 别名
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


种属 基因名 来源 基因 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