Twist-related protein 2

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)
End	238,910,534 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	91,775,750 bp
RNA expression pattern
	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
	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
	117581
	13345
	ENSG00000233608; ENSG00000288335
	ENSMUSG00000007805
	Q8WVJ9
	Q9D030
	NM_001271893; NM_057179
	NM_007855
	NP_001258822; NP_476527
	NP_031881
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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]

References

^ ^a ^b ^c ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608, ENSG00000288335 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000007805 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Li L, Cserjesi P, Olson EN (Dec 1995). "Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis". Dev Biol. 172 (1): 280–92. doi:10.1006/dbio.1995.0023. PMID 7589808.
^ Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM (Apr 1997). "The locations of the H-twist and H-dermo-1 genes are distinct on the human genome". Biochim Biophys Acta. 1360 (1): 1–2. doi:10.1016/s0925-4439(96)00071-3. PMID 9061034.
^ ^a ^b "Entrez Gene: TWIST2 twist homolog 2 (Drosophila)".
^ Lee, Yun Sok; Lee Hyoung Ho; Park Jiyoung; Yoo Eung Jae; Glackin Carlotta A; Choi Young Il; Jeon Sung Ho; Seong Rho Hyun; Park Sang Dai; Kim Jae Bum (Dec 2003). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c". Nucleic Acids Res. 31 (24). England: 7165–74. doi:10.1093/nar/gkg934. PMC 291873. PMID 14654692.
^ Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara (2015-07-02). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". The American Journal of Human Genetics. 97 (1): 99–110. doi:10.1016/j.ajhg.2015.05.017. ISSN 0002-9297. PMC 4572501. PMID 26119818.

External links

TWIST2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608, ENSG00000288335 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000007805 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7589808-5] Li L, Cserjesi P, Olson EN (Dec 1995). "Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis". Dev Biol. 172 (1): 280–92. doi:10.1006/dbio.1995.0023. PMID 7589808.

[pmid9061034-6] Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM (Apr 1997). "The locations of the H-twist and H-dermo-1 genes are distinct on the human genome". Biochim Biophys Acta. 1360 (1): 1–2. doi:10.1016/s0925-4439(96)00071-3. PMID 9061034.

[entrez-7] "Entrez Gene: TWIST2 twist homolog 2 (Drosophila)".

[pmid14654692-8] Lee, Yun Sok; Lee Hyoung Ho; Park Jiyoung; Yoo Eung Jae; Glackin Carlotta A; Choi Young Il; Jeon Sung Ho; Seong Rho Hyun; Park Sang Dai; Kim Jae Bum (Dec 2003). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c". Nucleic Acids Res. 31 (24). England: 7165–74. doi:10.1093/nar/gkg934. PMC 291873. PMID 14654692.

[9] Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara (2015-07-02). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". The American Journal of Human Genetics. 97 (1): 99–110. doi:10.1016/j.ajhg.2015.05.017. ISSN 0002-9297. PMC 4572501. PMID 26119818.

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Twist-related protein 2

Interactions

Clinical significance

References

Further reading

External links