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    LBH LBH regulator of WNT signaling pathway [ Homo sapiens (human) ]

    Gene ID: 81606, updated on 23-Mar-2024

    Summary

    Official Symbol
    LBHprovided by HGNC
    Official Full Name
    LBH regulator of WNT signaling pathwayprovided by HGNC
    Primary source
    HGNC:HGNC:29532
    See related
    Ensembl:ENSG00000213626 MIM:611763; AllianceGenome:HGNC:29532
    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
    Summary
    Involved in negative regulation of transcription, DNA-templated; positive regulation of transcription, DNA-templated; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lung (RPKM 81.1), lymph node (RPKM 54.3) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LBH in Genome Data Viewer
    Location:
    2p23.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (30231534..30260028)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (30275785..30304277)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (30454400..30482894)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374414 Neighboring gene uncharacterized LOC124907749 Neighboring gene Sharpr-MPRA regulatory region 12598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30416411-30416970 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:30431474-30431698 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:30440807-30442006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15534 Neighboring gene Sharpr-MPRA regulatory region 4877 Neighboring gene H3 histone pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30453066-30453581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30453582-30454096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11328 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:30459095-30459302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:30488856-30489470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:30489471-30490085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15535 Neighboring gene NANOG hESC enhancer GRCh37_chr2:30511920-30512428 Neighboring gene uncharacterized LOC102723594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15537 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:30517185-30517355 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:30523745-30524427 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:30524428-30525109 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:30525110-30525792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30525793-30526473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15543 Neighboring gene long intergenic non-protein coding RNA 1936

    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?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104312, MGC163287, DKFZp566J091

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein LBH
    Names
    hLBH
    limb bud and heart development homolog
    limb bud and heart development protein homolog

    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.

    mRNA and Protein(s)

    1. NM_030915.4NP_112177.2  protein LBH

      See identical proteins and their annotated locations for NP_112177.2

      Status: VALIDATED

      Source sequence(s)
      AI302040, BC109376, BC130415, CN485291
      Consensus CDS
      CCDS33173.1
      UniProtKB/Swiss-Prot
      B2RBC2, Q53QV2, Q9H0Q1
      UniProtKB/TrEMBL
      B5MCP4
      Related
      ENSP00000378733.3, ENST00000395323.9
      Conserved Domains (1) summary
      pfam15317
      Location:18103
      Lbh; Cardiac transcription factor regulator, Developmental protein

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      30231534..30260028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      30275785..30304277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)