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

Gene ID: 117581, updated on 19-Sep-2024

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
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Genomic context

See TWIST2 in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905451 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:239710917-239712116 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57404 Neighboring gene uncharacterized LOC100287387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239754662-239755172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239755173-239755683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239757217-239757726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239757727-239758237 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57450 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57458 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:239764522-239764712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239765771-239766270 Neighboring gene Sharpr-MPRA regulatory region 8511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239773413-239774030 Neighboring gene NANOG hESC enhancer GRCh37_chr2:239781475-239781979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239798834-239799355 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57501 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239864003-239864503 Neighboring gene long intergenic non-protein coding RNA 1940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239906676-239907658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239907659-239908639 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239936997-239937826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239957575-239958194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239989039-239989540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239989541-239990040 Neighboring gene histone deacetylase 4 Neighboring gene microRNA 4440

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC117334

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

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

  1. NG_032754.3 RefSeqGene

    Range
    5002..67063
    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
    Q3SYL6, Q8WVJ9
    Related
    ENSP00000482581.1, ENST00000612363.2
    Conserved Domains (1) summary
    cd19700
    Location:51132
    bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins
  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
    Q3SYL6, Q8WVJ9
    Related
    ENSP00000405176.2, ENST00000448943.2
    Conserved Domains (1) summary
    cd19700
    Location:51132
    bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

RNA

  1. XR_007069137.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021159987.1 Reference GRCh38.p14 PATCHES

    Range
    71795..138464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008485772.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    239335184..239402179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008486261.1 RNA Sequence