LHX4
LIM/homeobox protein Lhx4
Also known as: Gsh4, LHX4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969G2
- Gene
- LHX4
- Ensembl
- ENSG00000121454
- Chromosome
- 1
- Canonical length
- 390 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nuclear speckles
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
390 residues, UniProt reviewed canonical sequence.
>Q969G2|LHX4
1 MMQSATVPAE GAVKGLPEML GVPMQQIPQC AGCNQHILDK FILKVLDRHW HSSCLKCADC
61 QMQLADRCFS RAGSVYCKED FFKRFGTKCT ACQQGIPPTQ VVRKAQDFVY HLHCFACIIC
121 NRQLATGDEF YLMEDGRLVC KEDYETAKQN DDSEAGAKRP RTTITAKQLE TLKNAYKNSP
181 KPARHVREQL SSETGLDMRV VQVWFQNRRA KEKRLKKDAG RHRWGQFYKS VKRSRGSSKQ
241 EKESSAEDCG VSDSELSFRE DQILSELGHT NRIYGNVGDV TGGQLMNGSF SMDGTGQSYQ
301 DLRDGSPYGI PQSPSSISSL PSHAPLLNGL DYTVDSNLGI IAHAGQGVSQ TLRAMAGGPT
361 SDISTGSSVG YPDFPTSPGS WLDEMDHPPFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LHX4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- retina: 14 nTPM
- cerebellum: 1.9 nTPM
- testis: 1.6 nTPM
- pancreas: 1.3 nTPM
- pituitary gland: 1.3 nTPM
- cervix: 1 nTPM
Single-cell type
- late spermatids: 161 nCPM
- retinal bipolar cells: 146 nCPM
- early spermatids: 81 nCPM
- cone photoreceptor cells: 60 nCPM
- epicardial cells: 30 nCPM
- cardiomyocytes: 24 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 7.5 nTPM
- pons: 5.5 nTPM
- midbrain: 5.2 nTPM
- medulla oblongata: 4.4 nTPM
- cerebral cortex: 4.3 nTPM
- amygdala: 4.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LHX4.
Disease | AllUniProt
Conditions LHX4 is implicated in, by any mechanism.
- Pituitary hormone deficiency, combined, 4 (CPHD4) MIM:262700
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 229 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome
- See cases
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.69
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.67
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ morphogenesis
- apoptotic process
- medial motor column neuron differentiation
- motor neuron axon guidance
- negative regulation of apoptotic process
- neuron differentiation
- placenta development
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- methyl-CpG binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LHX4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LHX4 as an antibody target. Whether an autoantibody or antibody against LHX4 could matter depends on whether native LHX4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LHX4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LHX4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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