TWIST2 twist family bHLH transcription factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TWIST2provided by HGNC
Official Full Name: twist family bHLH transcription factor 2provided by HGNC
Primary source: HGNC:HGNC:20670
See related: Ensembl:ENSG00000233608 MIM:607556; AllianceGenome:HGNC:20670
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMS; FFDD3; BBRSAY; DERMO1; SETLSS; bHLHa39
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]
Expression: Biased expression in fat (RPKM 11.9), endometrium (RPKM 7.9) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (238848085..238910534)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (239335184..239402179)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (239756726..239832230)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Twist2-expressing cells reside in human skeletal muscle and are responsive to aging and resistance exercise training.
Title: Twist2-expressing cells reside in human skeletal muscle and are responsive to aging and resistance exercise training.
Single Nucleotide Polymorphism of TWIST2 May Be a Modifier for the Association between High-Density Lipoprotein Cholesterol and Blood Lead (Pb) Level.
Title: Single Nucleotide Polymorphism of TWIST2 May Be a Modifier for the Association between High-Density Lipoprotein Cholesterol and Blood Lead (Pb) Level.
MIR205 host gene (MIR205HG) drives osteosarcoma metastasis via regulating the microRNA 2114-3p (miR-2114-3p)/twist family bHLH transcription factor 2 (TWIST2) axis.
Title: MIR205 host gene (MIR205HG) drives osteosarcoma metastasis via regulating the microRNA 2114-3p (miR-2114-3p)/twist family bHLH transcription factor 2 (TWIST2) axis.
TWIST2 and the PPAR signaling pathway are important in the progression of nonalcoholic steatohepatitis.
Title: TWIST2 and the PPAR signaling pathway are important in the progression of nonalcoholic steatohepatitis.
Inhibition of p53/p21 by TWIST alleviates TNF-alpha induced nucleus pulposus cell senescence in vitro.
Title: Inhibition of p53/p21 by TWIST alleviates TNF-α induced nucleus pulposus cell senescence in vitro.
LINC01235-TWIST2 feedback loop facilitates epithelial-mesenchymal transition in gastric cancer by inhibiting THBS2.
Title: LINC01235-TWIST2 feedback loop facilitates epithelial-mesenchymal transition in gastric cancer by inhibiting THBS2.
Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.
Title: Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.
Twist2 is NFkB-responsive when p120-catenin is inactivated and EGFR is overexpressed in esophageal keratinocytes.
Title: Twist2 is NFkB-responsive when p120-catenin is inactivated and EGFR is overexpressed in esophageal keratinocytes.
Periostin induces epithelialtomesenchymal transition via the integrin alpha5beta1/TWIST2 axis in cholangiocarcinoma.
Title: Periostin induces epithelial‑to‑mesenchymal transition via the integrin α5β1/TWIST‑2 axis in cholangiocarcinoma.
CASC9 enhances cervical cancer progression by promoting metastasis through the meditation of miR-215/TWIST2 signaling associated with TGF-beta expression
Title: Long non-coding RNA CASC9 enhances breast cancer progression by promoting metastasis through the meditation of miR-215/TWIST2 signaling associated with TGF-β expression.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ablepharon macrostomia syndrome MedGen: C1860224 OMIM: 200110 GeneReviews: Not available	Compare labs
Barber-Say syndrome MedGen: C1319466 OMIM: 209885 GeneReviews: Not available	Compare labs
Focal facial dermal dysplasia type III MedGen: C1744559 OMIM: 227260 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH101841 (e-PCR)
- UniSTS:7787

RH99211 (e-PCR)
- UniSTS:91821

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: twist-related protein 2

Names: class A basic helix-loop-helix protein 39; dermis-expressed protein 1; twist basic helix-loop-helix transcription factor 2; twist homolog 2; twist-related bHLH protein Dermo1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032754.3 RefSeqGene

Range

5002..67063

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271893.4 → NP_001258822.1 twist-related protein 2

See identical proteins and their annotated locations for NP_001258822.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC142117, BC017907

Consensus CDS

CCDS46558.1

UniProtKB/Swiss-Prot

Q3SYL6, Q8WVJ9

Related

ENSP00000482581.1, ENST00000612363.2

Conserved Domains (1) summary

cd19700
Location:51 → 132

bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins
NM_057179.3 → NP_476527.1 twist-related protein 2

See identical proteins and their annotated locations for NP_476527.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC149644, BC033168, BU615717

Consensus CDS

CCDS46558.1

UniProtKB/Swiss-Prot

Q3SYL6, Q8WVJ9

Related

ENSP00000405176.2, ENST00000448943.2

Conserved Domains (1) summary

cd19700
Location:51 → 132

bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins