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
151225122004Mutated MESP2 causes spondylocostal dysostosis in humans.35
184853262008Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.18
169964942006Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis.9
227444562012Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.1

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