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

Gene ID: 81606, updated on 1-Jun-2020

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
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
Expression
Broad expression in lung (RPKM 81.1), lymph node (RPKM 54.3) and 23 other tissues See more
Orthologs

Genomic context

See LBH in Genome Data Viewer
Location:
2p23.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (30231534..30260028)
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 LOC105374414 Neighboring gene small nucleolar RNA, H/ACA box 10B Neighboring gene H3 histone pseudogene 5 Neighboring gene uncharacterized LOC102723594 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104312, MGC163287, DKFZp566J091

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    Q53QV2
    Related
    ENSP00000378733.3, ENST00000395323.9
    Conserved Domains (1) summary
    pfam15317
    Location:18103
    Lbh; Cardiac transcription factor regulator, Developmental protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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