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Aliases for LHX4 Gene

Aliases for LHX4 Gene

  • LIM Homeobox 4 2 3 5
  • LIM Homeobox Protein 4 3 4
  • CPHD4 3

External Ids for LHX4 Gene

Previous GeneCards Identifiers for LHX4 Gene

  • GC01P177723
  • GC01P175627
  • GC01P176719
  • GC01P177438
  • GC01P176931
  • GC01P178466
  • GC01P180199
  • GC01P151430

Summaries for LHX4 Gene

Entrez Gene Summary for LHX4 Gene

  • This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]

GeneCards Summary for LHX4 Gene

LHX4 (LIM Homeobox 4) is a Protein Coding gene. Diseases associated with LHX4 include Pituitary Hormone Deficiency, Combined, 4 and Lhx4-Related Combined Pituitary Hormone Deficiency. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is LHX3.

UniProtKB/Swiss-Prot for LHX4 Gene

  • May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung.

Gene Wiki entry for LHX4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHX4 Gene

Genomics for LHX4 Gene

Regulatory Elements for LHX4 Gene

Enhancers for LHX4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LHX4 on UCSC Golden Path with GeneCards custom track

Genomic Location for LHX4 Gene

180,228,803 bp from pter
180,278,982 bp from pter
50,180 bases
Plus strand

Genomic View for LHX4 Gene

Genes around LHX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHX4 Gene

Proteins for LHX4 Gene

  • Protein details for LHX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    LIM/homeobox protein Lhx4
    Protein Accession:
    Secondary Accessions:
    • Q8NHE0
    • Q8NHM1
    • Q8TCJ1
    • Q8WWX2
    • Q969W2

    Protein attributes for LHX4 Gene

    390 amino acids
    Molecular mass:
    43124 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB62817.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for LHX4 Gene

Proteomics data for LHX4 Gene at MOPED

Post-translational modifications for LHX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LHX4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHX4 Gene

Domains & Families for LHX4 Gene

Gene Families for LHX4 Gene

Protein Domains for LHX4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 homeobox DNA-binding domain.
  • Contains 2 LIM zinc-binding domains.
genes like me logo Genes that share domains with LHX4: view

Function for LHX4 Gene

Molecular function for LHX4 Gene

UniProtKB/Swiss-Prot Function:
May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung.
genes like me logo Genes that share phenotypes with LHX4: view

Human Phenotype Ontology for LHX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LHX4 Gene

MGI Knock Outs for LHX4:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for LHX4 Gene

Localization for LHX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHX4 Gene

Subcellular locations from

Jensen Localization Image for LHX4 Gene COMPARTMENTS Subcellular localization image for LHX4 gene
Compartment Confidence
nucleus 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for LHX4 Gene

Pathways & Interactions for LHX4 Gene

SuperPathways for LHX4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LHX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0008045 motor neuron axon guidance IEA --
GO:0009887 organ morphogenesis IEA --
GO:0043066 negative regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with LHX4: view

No data available for Pathways by source and SIGNOR curated interactions for LHX4 Gene

Drugs & Compounds for LHX4 Gene

No Compound Related Data Available

Transcripts for LHX4 Gene

mRNA/cDNA for LHX4 Gene

Unigene Clusters for LHX4 Gene

LIM homeobox 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LHX4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1: -

Relevant External Links for LHX4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LHX4 Gene

mRNA expression in normal human tissues for LHX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LHX4 Gene

This gene is overexpressed in Testis (x5.1).

SOURCE GeneReport for Unigene cluster for LHX4 Gene Hs.658487

genes like me logo Genes that share expression patterns with LHX4: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LHX4 Gene

Orthologs for LHX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for LHX4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LHX4 35
  • 95.04 (n)
  • 98.97 (a)
LXH4 36
  • 99 (a)
(Canis familiaris)
Mammalia LHX4 35
  • 95.9 (n)
  • 99.23 (a)
LHX4 36
  • 93 (a)
(Mus musculus)
Mammalia Lhx4 35
  • 93.08 (n)
  • 98.97 (a)
Lhx4 16
Lhx4 36
  • 99 (a)
(Pan troglodytes)
Mammalia LHX4 35
  • 99.66 (n)
  • 100 (a)
LHX4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Lhx4 35
  • 92.91 (n)
  • 98.18 (a)
(Monodelphis domestica)
Mammalia LHX4 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia LHX4 36
  • 83 (a)
(Gallus gallus)
Aves LHX4 35
  • 83.61 (n)
  • 92.31 (a)
LHX4 36
  • 89 (a)
(Anolis carolinensis)
Reptilia LHX4 36
  • 94 (a)
(Danio rerio)
Actinopterygii lhx4 35
  • 74.94 (n)
  • 83.98 (a)
lhx4 36
  • 83 (a)
fruit fly
(Drosophila melanogaster)
Insecta Lim3 37
  • 48 (a)
Lim3 36
  • 37 (a)
(Caenorhabditis elegans)
Secernentea ceh-14 37
  • 57 (a)
lim-6 37
  • 40 (a)
ceh-14 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2190 36
  • 34 (a)
Species with no ortholog for LHX4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for LHX4 Gene

Gene Tree for LHX4 (if available)
Gene Tree for LHX4 (if available)

Paralogs for LHX4 Gene

Paralogs for LHX4 Gene

genes like me logo Genes that share paralogs with LHX4: view

Variants for LHX4 Gene

Sequence variations from dbSNP and Humsavar for LHX4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_046661 -
VAR_058715 Pituitary hormone deficiency, combined, 4 (CPHD4)
VAR_058716 Pituitary hormone deficiency, combined, 4 (CPHD4)
VAR_058717 Pituitary hormone deficiency, combined, 4 (CPHD4)
VAR_063241 Pituitary hormone deficiency, combined, 4 (CPHD4)

Structural Variations from Database of Genomic Variants (DGV) for LHX4 Gene

Variant ID Type Subtype PubMed ID
nsv832004 CNV Gain 17160897
nsv466239 CNV Gain 19166990
nsv872575 CNV Loss 21882294
esv23910 CNV Loss 19812545
dgv410n71 CNV Loss 21882294
esv2660683 CNV Deletion 23128226
esv2661645 CNV Deletion 23128226
esv29505 CNV Loss 19812545

Variation tolerance for LHX4 Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.81; 93.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LHX4 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHX4 Gene

Disorders for LHX4 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LHX4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pituitary hormone deficiency, combined, 4
  • pituitary hormone deficiency, combined 4
lhx4-related combined pituitary hormone deficiency
  • combined pituitary hormone deficiency 4
pituitary stalk interruption syndrome
  • ectopic neurohypophysis
hypothyroidism due to deficient transcription factors involved in pituitary development or function
  • pituitary hormone deficiency
- elite association - COSMIC cancer census association via MalaCards
Search LHX4 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving LHX4 may be a cause of acute lymphoblastic leukemia. Translocation t(1;14)(q25;q32) with IGHG1. {ECO:0000269 PubMed:11567216}.
  • Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica. {ECO:0000269 PubMed:17527005, ECO:0000269 PubMed:18073311}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LHX4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LHX4: view

No data available for Genatlas for LHX4 Gene

Publications for LHX4 Gene

  1. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. (PMID: 11567216) Machinis K. … Amselem S. (Am. J. Hum. Genet. 2001) 2 3 4 23 67
  2. A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. (PMID: 17527005) Tajima T. … Fujieda K. (Endocr. J. 2007) 3 23
  3. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. (PMID: 15998782) Machinis K. … Amselem S. (J. Clin. Endocrinol. Metab. 2005) 3 23
  4. cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4. (PMID: 11844481) Liu Y. … Qiang B. (Brain Res. 2002) 2 3
  5. Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. (PMID: 10788441) Howard P.W. … Maurer R.A. (J. Biol. Chem. 2000) 3 23

Products for LHX4 Gene

Sources for LHX4 Gene