MESP2 (mesoderm posterior bHLH transcription factor 2)

2008-10-01  

Identity

HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
SCDO2,bHLHc6
FUSION GENES

Other Information

Locus ID:

NCBI: 145873
MIM: 605195
HGNC: 29659
Ensembl: ENSG00000188095

Variants:

dbSNP: 145873
ClinVar: 145873
TCGA: ENSG00000188095
COSMIC: MESP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188095ENST00000341735Q0VG99
ENSG00000188095ENST00000560219H0YKZ5

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
325725062020MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.2
325725062020MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.2
227444562012Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.1
227444562012Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.1
184853262008Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.21
184853262008Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.21
169964942006Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis.11
169964942006Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis.11
151225122004Mutated MESP2 causes spondylocostal dysostosis in humans.50
151225122004Mutated MESP2 causes spondylocostal dysostosis in humans.50

Citation

Dessen P

MESP2 (mesoderm posterior bHLH transcription factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50437/mesp2-(mesoderm-posterior-bhlh-transcription-factor-2)