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LHX2 LIM homeobox 2 [ Homo sapiens (human) ]

Gene ID: 9355, updated on 7-Dec-2018

Summary

Official Symbol
LHX2provided by HGNC
Official Full Name
LIM homeobox 2provided by HGNC
Primary source
HGNC:HGNC:6594
See related
Ensembl:ENSG00000106689 MIM:603759
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
LH2; hLhx2
Summary
This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 8.5), placenta (RPKM 1.0) and 2 other tissues See more
Orthologs

Genomic context

See LHX2 in Genome Data Viewer
Location:
9q33.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (124011610..124033163)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (126773889..126795572)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376267 Neighboring gene uncharacterized LOC100505588 Neighboring gene uncharacterized LOC107987037 Neighboring gene NFE2L2 motif-containing MPRA enhancer 159

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
NHGRI GWA Catalog
Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.
NHGRI GWA Catalog

Pathways from BioSystems

  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138390

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axon extension IEA
Inferred from Electronic Annotation
more info
 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
maintenance of epithelial cell apical/basal polarity IEA
Inferred from Electronic Annotation
more info
 
mesoderm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression, epigenetic IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription regulatory region DNA binding IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
telencephalon regionalization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
LIM/homeobox protein Lhx2
Names
LIM HOX gene 2
LIM homeobox protein 2
homeobox protein LH-2

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_004789.4NP_004780.3  LIM/homeobox protein Lhx2

    See identical proteins and their annotated locations for NP_004780.3

    Status: REVIEWED

    Source sequence(s)
    AC006450, AL158052
    Consensus CDS
    CCDS6853.1
    UniProtKB/Swiss-Prot
    P50458
    UniProtKB/TrEMBL
    B3KNJ5
    Related
    ENSP00000362717.4, ENST00000373615.8
    Conserved Domains (4) summary
    cd09377
    Location:111169
    LIM2_Lhx2_Lhx9; The second LIM domain of Lhx2 and Lhx9 family
    cd09469
    Location:43106
    LIM1_Lhx2; The first LIM domain of Lhx2
    pfam00046
    Location:270322
    Homeobox; Homeobox domain
    cl27820
    Location:247378
    Abdominal-A; Homeobox protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    124011610..124033163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717323.3XP_006717386.1  LIM/homeobox protein Lhx2 isoform X1

    See identical proteins and their annotated locations for XP_006717386.1

    Conserved Domains (3) summary
    cd09377
    Location:111169
    LIM2_Lhx2_Lhx9; The second LIM domain of Lhx2 and Lhx9 family
    cd09469
    Location:43106
    LIM1_Lhx2; The first LIM domain of Lhx2
    smart00389
    Location:266311
    HOX; Homeodomain
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