LHX2

Protein identityUniProt · HPA

UniProt accession

P50458

Gene

LHX2

Ensembl

ENSG00000106689

Chromosome

9

Canonical length

406 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

406 residues, UniProt reviewed canonical sequence.

>P50458|LHX2
     1  MLFHSLSGPE VHGVIDEMDR RAKSEAPAIS SAIDRGDTET TMPSISSDRA ALCAGCGGKI
    61  SDRYYLLAVD KQWHMRCLKC CECKLNLESE LTCFSKDGSI YCKEDYYRRF SVQRCARCHL
   121  GISASEMVMR ARDLVYHLNC FTCTTCNKML TTGDHFGMKD SLVYCRLHFE ALLQGEYPAH
   181  FNHADVAAAA AAAAAAKSAG LGAAGANPLG LPYYNGVGTV QKGRPRKRKS PGPGADLAAY
   241  NAALSCNEND AEHLDRDQPY PSSQKTKRMR TSFKHHQLRT MKSYFAINHN PDAKDLKQLA
   301  QKTGLTKRVL QVWFQNARAK FRRNLLRQEN TGVDKSTDAA LQTGTPSGPA SELSNASLSP
   361  SSTPTTLTDL TSPTLPTVTS VLTSVPGNLE GHEPHSPSQT TLTNLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LHX2 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)

0.54

Highest tissue expression

82 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LHX2.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 73 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Variable neurodevelopmental disorder
• LHX2-associated neurodevelopmental disorder

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)

0.22

gnomAD pLI

0.99

gnomAD missense Z

2.27

DepMap mean gene effect

0.1

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon extension
• axon guidance
• cerebral cortex development
• dorsal/ventral pattern formation
• hair follicle development
• maintenance of epithelial cell apical/basal polarity
• mesoderm development
• negative regulation of gene expression, epigenetic
• negative regulation of neurogenesis
• neural tube closure
• neuron differentiation
• olfactory bulb development
• positive regulation of DNA-templated transcription
• positive regulation of neural precursor cell proliferation
• regulation of transcription by RNA polymerase II
• retina development in camera-type eye
• telencephalon regionalization

Molecular functions

• chromatin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• metal ion binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Zinc finger, LIM-type
• Homedomain-like superfamily
• Homeobox, conserved site
• LIM/homeobox transcription factors
• Homeodomain
• LIM domain

KeywordsUniProt

• Activator
• DNA-binding
• Homeobox
• LIM domain
• Metal-binding
• Nucleus
• Repeat
• Transcription
• Transcription regulation
• Zinc

InteractionsUniProt · HPA

Protein binding partners of LHX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• POU4F2
• CITED2
• LDB1
• NFIA
• NFIB
• SSBP4