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

Gene ID: 117581, updated on 7-Jun-2020

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
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

Genomic context

See TWIST2 in Genome Data Viewer
Location:
2q37.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (238848085..238910534)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239756673..239795893) , (239831979..239832237)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1937 Neighboring gene uncharacterized LOC100287387 Neighboring gene Sharpr-MPRA regulatory region 8511 Neighboring gene long intergenic non-protein coding RNA 1940 Neighboring gene histone deacetylase 4 Neighboring gene microRNA 4440

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117334

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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

  1. NG_032754.2 RefSeqGene

    Range
    5054..44226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271893.4NP_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
    Q8WVJ9
    UniProtKB/TrEMBL
    A0A024R4D4
    Related
    ENSP00000482581.1, ENST00000612363.2
    Conserved Domains (1) summary
    pfam00010
    Location:67117
    HLH; Helix-loop-helix DNA-binding domain
  2. NM_057179.3NP_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
    Q8WVJ9
    UniProtKB/TrEMBL
    A0A024R4D4
    Related
    ENSP00000405176.2, ENST00000448943.2
    Conserved Domains (1) summary
    pfam00010
    Location:67117
    HLH; Helix-loop-helix DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    238848085..238910534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021159987.1 Reference GRCh38.p13 PATCHES

    Range
    75328..138464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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