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

    Gene ID: 145873, updated on 1-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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)