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    LBH limb bud and heart development [ Homo sapiens (human) ]

    Gene ID: 81606, updated on 6-Sep-2017
    Official Symbol
    LBHprovided by HGNC
    Official Full Name
    limb bud and heart developmentprovided by HGNC
    Primary source
    HGNC:HGNC:29532
    See related
    Ensembl:ENSG00000213626 MIM:611763; Vega:OTTHUMG00000152051
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Orthologs
    Location:
    2p23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (30231531..30260033)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (30454397..30482899)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929418 Neighboring gene uncharacterized LOC105374414 Neighboring gene yippee like 5 Neighboring gene uncharacterized LOC102723594 Neighboring gene uncharacterized LOC285043

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC104312, MGC163287, DKFZp566J091

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    mammary gland epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of intracellular estrogen receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mammary stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of somatic stem cell division IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein LBH
    Names
    hLBH
    limb bud and heart development homolog

    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.

    mRNA and Protein(s)

    1. NM_030915.3NP_112177.2  protein LBH

      See identical proteins and their annotated locations for NP_112177.2

      Status: VALIDATED

      Source sequence(s)
      AI302040, BC109376, BC130415, BU687531, CN485291
      Consensus CDS
      CCDS33173.1
      UniProtKB/Swiss-Prot
      Q53QV2
      Related
      ENSP00000378733.3, OTTHUMP00000201112, ENST00000395323.7, OTTHUMT00000325091
      Conserved Domains (1) summary
      pfam15317
      Location:18103
      Lbh; Cardiac transcription factor regulator, Developmental protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      30231531..30260033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005059.1XP_016860548.1  protein LBH isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      30384624..30413128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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