Entity Details

Primary name MESP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ0VG99
EntryNameMESP2_HUMAN
FullNameMesoderm posterior protein 2
TaxID9606
Evidenceevidence at protein level
Length397
SequenceStatuscomplete
DateCreated2007-07-24
DateModified2021-06-02

Ontological Relatives

GenesMESP2

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001707 mesoderm formation
GO:0003007 heart morphogenesis
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007219 Notch signaling pathway
GO:0032525 somite rostral/caudal axis specification
GO:0046983 protein dimerization activity
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domainDomainDomain
IPR036638 Helix-loop-helix DNA-binding domain superfamilyFamilyHomologous superfamily
IPR040259 Mesogenin/MesPFamilyFamily

Diseases

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Disease IDSourceNameDescription
608681 OMIMSpondylocostal dysostosis 2, autosomal recessive (SCDO2)A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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