Twist-related protein 2

Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene.^[5][6][7] The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. bHLH transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.^[7]

TWIST2
Identifiers
Aliases	TWIST2, DERMO1, FFDD3, SETLSS, bHLHa39, AMS, BBRSAY, twist family bHLH transcription factor 2
External IDs	OMIM: 607556; MGI: 104685; HomoloGene: 40594; GeneCards: TWIST2; OMA:TWIST2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.3 Start 238,848,032 bp[1] End 238,910,534 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 D Start 91,729,183 bp[2] End 91,775,750 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium canal of the cervix ectocervix subcutaneous adipose tissue vagina lactiferous gland left uterine tube left ovary right ovary body of uterus Top expressed in dermis maxillary prominence mandibular prominence umbilical cord efferent ductule vas deferens condyle lamina propria of urethra fossa skin of abdomen More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein binding protein dimerization activity Cellular component cytoplasm nucleus nucleolus Biological process multicellular organism development cell differentiation negative regulation of apoptotic process negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated negative regulation of osteoblast differentiation transcription, DNA-templated positive regulation of cell migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 117581 13345 Ensembl ENSG00000233608 ENSG00000288335 ENSMUSG00000007805 UniProt Q8WVJ9 Q9D030 RefSeq (mRNA) NM_001271893 NM_057179 NM_007855 RefSeq (protein) NP_001258822 NP_476527 NP_031881 Location (UCSC) Chr 2: 238.85 – 238.91 Mb Chr 1: 91.73 – 91.78 Mb PubMed search [3] [4]
Wikidata
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Interactions

TWIST2 has been shown to interact with SREBF1.^[8]

Clinical significance

Mutations in the TWIST2 gene that alter DNA-binding activity through both dominant-negative and gain-of-function effects are associated with ablepharon macrostomia syndrome and Barber–Say syndrome.^[9]