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MESP2 mesoderm posterior bHLH transcription factor 2 [ Homo sapiens (human) ]

Gene ID: 145873, updated on 23-Nov-2023

Summary

Official Symbol
MESP2provided by HGNC
Official Full Name
mesoderm posterior bHLH transcription factor 2provided by HGNC
Primary source
HGNC:HGNC:29659
See related
Ensembl:ENSG00000188095 MIM:605195; AllianceGenome:HGNC:29659
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCDO2; bHLHc6
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See MESP2 in Genome Data Viewer
Location:
15q26.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89776332..89778754)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87532244..87534642)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90319563..90321985)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 93 Neighboring gene mesoderm posterior bHLH transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6804 Neighboring gene mitochondrial ribosomal protein L15 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90310867-90311584 Neighboring gene uncharacterized LOC124903550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10055 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:90326293-90326955 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:90326956-90327617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90327618-90328280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90335518-90336018 Neighboring gene alanyl aminopeptidase, membrane Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:90347169-90348368 Neighboring gene ANPEP proximal promoter Neighboring gene FOXA motif-containing MPRA enhancer 170 Neighboring gene ANPEP distal promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90365008-90365508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90365509-90366009 Neighboring gene uncharacterized LOC124903551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90367927-90368600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10056

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in heart morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mesoderm formation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in somite rostral/caudal axis specification IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
mesoderm posterior protein 2
Names
class C basic helix-loop-helix protein 6
mesoderm posterior 2 homolog
mesoderm posterior basic helix-loop-helix transcription factor 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008608.2 RefSeqGene

    Range
    20742..23164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1304

mRNA and Protein(s)

  1. NM_001039958.2NP_001035047.1  mesoderm posterior protein 2

    See identical proteins and their annotated locations for NP_001035047.1

    Status: REVIEWED

    Source sequence(s)
    AC079075
    Consensus CDS
    CCDS42078.1
    UniProtKB/Swiss-Prot
    Q0VG99, Q7RTU2
    Related
    ENSP00000342392.3, ENST00000341735.5
    Conserved Domains (1) summary
    pfam00010
    Location:82135
    HLH; Helix-loop-helix DNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    89776332..89778754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    87532244..87534642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)