MESP2

Protein identityUniProt · HPA

UniProt accession

Q0VG99

Gene

MESP2

Ensembl

ENSG00000188095

Chromosome

15

Canonical length

397 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

397 residues, UniProt reviewed canonical sequence.

>Q0VG99|MESP2
     1  MAQSPPPQSL LGHDHWIFAQ GWGWAGHWDS TSPASSSDSS GSCPCDGARG LPQPQPPSCS
    61  SRAAEAAATT PRRARTGPAG GQRQSASERE KLRMRTLARA LHELRRFLPP SLAPAGQSLT
   121  KIETLRLAIR YIGHLSAVLG LSEESLQCRR RQRGDAGSPW GCPLCPDRGP AEAQTQAEGQ
   181  GQGQGQGQGQ GQGQGQGQGQ GQGQGRRPGL VSAVLAEASW GSPSACPGAQ AAPERLGRGV
   241  HDTDPWATPP YCPKIQSPPY SSQGTTSDAS LWTPPQGCPW TQSSPEPRNP PVPWTAAPAT
   301  LELAAVYQGL SVSPEPCLSL GAPSLLPHPS CQRLQPQTPG RCWSHSAEVV PNSEDQGPGA
   361  AFQLSEASPP QSSGLRFSGC PELWQEDLEG ARLGIFY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MESP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.69

Highest tissue expression

0.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MESP2.

Disease | AllUniProt

Conditions MESP2 is implicated in, by any mechanism.

• Spondylocostal dysostosis 2, autosomal recessive (SCDO2) MIM:608681

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 578 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spondylocostal dysostosis 2, autosomal recessive
• Inborn genetic diseases
• Spondylocostal dysostosis 1, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.28

gnomAD pLI

0

gnomAD missense Z

0.19

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• heart morphogenesis
• mesoderm formation
• Notch signaling pathway
• regulation of transcription by RNA polymerase II
• somite rostral/caudal axis specification

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein dimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• Mesogenin/MesP
• Helix-loop-helix DNA-binding domain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Dwarfism
• Notch signaling pathway
• Nucleus
• Repeat
• Transcription
• Transcription regulation