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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LHX4 Gene

protein-coding GIFtS: 54
GCID: GC01P180199

LIM homeobox 4

Explore 20 diseases affiliated with
LHX4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
LIM Homeobox 4¹ ²
LIM Homeobox Protein 4² ³
CPHD4² ⁵
Gsh4¹
LIM/Homeobox Protein Lhx4²

External Ids:	HGNC: 21734¹	Entrez Gene: 89884²	Ensembl: ENSG00000121454⁷	OMIM: 602146⁵	UniProtKB: Q969G2³

Export aliases for LHX4 gene to outside databases

Previous GC identifers: GC01P177723 GC01P175627 GC01P176719 GC01P177438 GC01P176931 GC01P178466 GC01P151430

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LHX4:

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)

UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2

Function: May play a critical role in the development of respiratory control mechanisms and in the normal growth and

maturation of the lung (By similarity)

Gene Wiki entry for LHX4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LHX4 gene promoter:
GR SRF Bach1 Sp1 p300 SRF (504 AA) MyoD GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LHX4 promoter sequence

Search SABiosciences Chromatin IP Primers for LHX4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LHX4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25.2 Ensembl cytogenetic band: 1q25.2 HGNC cytogenetic band: 1q25.3

LHX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LHX4 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P180199: view genomic region (about GC identifiers)

Start:	180,199,421 bp from pter	End:	180,249,380 bp from pter
Size:	49,960 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2 (See protein sequence)

Recommended Name: LIM/homeobox protein Lhx4

Size: 390 amino acids; 43124 Da

Subcellular location: Nucleus (Potential)

Sequence caution: Sequence=BAB62817.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q8NHE0 Q8NHM1 Q8TCJ1 Q8WWX2 Q969W2

Explore the universe of human proteins at neXtProt for LHX4: NX_Q969G2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q969G2

LHX4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_203129.1

ENSEMBL proteins:

ENSP00000263726 ENSP00000452783

Human Recombinant Protein Products for LHX4:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: LHX4 OriGene Custom Protein Services for LHX4
	GenScript Custom Purified and Recombinant Proteins Services for LHX4
	Novus Biologicals LHX4 Proteins Novus Biologicals LHX4 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for LHX4

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IEA	--

LHX4 for ontologies About GeneDecksing

LHX4 Antibody Products:

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	Novus Biologicals LHX4 Antibodies
	Abcam antibodies for LHX4
	Uscn Antibodies for LHX4
	Search ThermoFisher Antibodies for LHX4

Assay Products for LHX4:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for LHX4
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for LHX4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LHX4 for domains About GeneDecksing

4 InterPro domains/families:

IPR001781 Znf_LIM

IPR017970 Homeobox_CS

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q969G2

ProtoNet protein and cluster: Q969G2

1 Blocks protein family: IPB001781 Zn-binding protein

UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 2 LIM zinc-binding domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LHX4_HUMAN, Q969G2

Function: May play a critical role in the development of respiratory control mechanisms and in the normal growth and

maturation of the lung (By similarity)

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

LHX4 for ontologies About GeneDecksing

Phenotypes:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lhx4):

cellular	endocrine/exocrine gland	homeostasis/metabolism	mortality/aging	nervous system
respiratory system

LHX4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Lhx4^tm1Ssp for LHX4

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LHX4

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX4
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate LHX4 (see all 14):
		hsa-miR-3688-3p hsa-miR-186* hsa-miR-130a* hsa-miR-765 hsa-miR-4299 hsa-miR-23c hsa-miR-513c hsa-miR-3647-3p

		SwitchGear 3'UTR luciferase reporter plasmid: LHX4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LHX4 (see all 7) OriGene shRNA RFP: LHX4 OriGene siRNA: LHX4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX4
		Sirion Biotech Custom design and validation of potent shRNA sequences against LHX4

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for LHX4
			Sirion Biotech Customized adenovirus for overexpression of LHX4 Sirion Biotech Customized adenovirus for potent knockdown of LHX4

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LHX4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LHX4 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: LHX4 (NM_033343)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX4

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LHX4
		Search LifeMap BioReagents cell lines for LHX4
		Sirion Biotech Customized stable knockdown cell line services for LHX4 Sirion Biotech Customized inducible knockdown cell line services for LHX4 Sirion Biotech Customized stable overexpressing cell line services for LHX4 Sirion Biotech Customized inducible overexpressing cell line services for LHX4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LHX4

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5/8 Interacting proteins for LHX4 (Q969G2³ ENSP00000263726⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IFT172	Q9UG01³, ENSP00000260570⁴	I2D: score=2 STRING: ENSP00000260570
ISL1	P61371³, ENSP00000230658⁴	I2D: score=1 STRING: ENSP00000230658
LDB1	Q86U70³, ENSP00000392466⁴	I2D: score=1 STRING: ENSP00000392466
SSX1	Q16384³, ENSP00000366118⁴	I2D: score=1 STRING: ENSP00000366118
ISL2	Q96A47³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001890	placenta development	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0008045	motor neuron axon guidance	IEA	--
GO:0009887	organ morphogenesis	IEA	--
GO:0021526	medial motor column neuron differentiation	IEA	--

LHX4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LHX4
Search CenterWatch for drugs/clinical trials and news about LHX4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LHX4 gene:

NM_033343.3

Unigene Cluster for LHX4:

LIM homeobox 4

Hs.658487 [show with all ESTs]

Unigene Representative Sequence: NM_033343

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000263726(uc001goe.2) ENST00000558139 ENST00000561113

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX4
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate LHX4 (see all 14):
		hsa-miR-3688-3p hsa-miR-186* hsa-miR-130a* hsa-miR-765 hsa-miR-4299 hsa-miR-23c hsa-miR-513c hsa-miR-3647-3p

		SwitchGear 3'UTR luciferase reporter plasmid: LHX4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LHX4 (see all 7) OriGene shRNA RFP: LHX4 OriGene siRNA: LHX4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX4
		Sirion Biotech Custom design and validation of potent shRNA sequences against LHX4

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LHX4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LHX4 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: LHX4 (NM_033343)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX4

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LHX4 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LHX4
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LHX4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LHX4

Additional cDNA sequence:

AB037683.1 AB055703.1 AF179849.1 AF282899.1 AY053457.1 BC011759.2

2 DOTS entries:

DT.91723858 DT.97835374

15 AceView cDNA sequences:

AF282899 AB055703 NM_033343 AL712800 AB037683 BC011759 BX954266 AB055704

BG026319 BX642571 BX282596 AF179849 AI127590 BE295107 BI113679

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for LHX4 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5a	·	5b	^	6
SP1:					-
SP2:

ECgene alternative splicing isoforms for LHX4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LHX4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGGGGGAC

About this image

LHX4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Median Motor Column

Medial Neurons of the Median Motor Column

Selective marker (cell-identifying gene)

Motor Neurons

Motor Neurons

Motor Neural Progenitor Domain

Cranial Visceral Motor Neurons

Motor Neurons

Spinal Cord

Motor Neural Progenitor Domain

Somatic Motor Neurons

Motor Neurons

Bone

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LHX4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LHX4

SOURCE GeneReport for Unigene cluster: Hs.658487

SABiosciences Custom PCR Arrays for LHX4

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LHX4 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LHX4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LHX4 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LHX4¹	LIM homeobox 4	83.56(n) 92.1(a)		776024 XM_001235591.2 XP_001235592.2
lizard (Anolis carolinensis)	Reptilia	LHX4⁶	--	95(a)	1 ↔ 1	4(70255883-70299218)
zebrafish (Danio rerio)	Actinopterygii	lhx4¹	LIM homeobox 4	74.94(n) 83.98(a)		571943 NM_001122973.1 NP_001116445.1
fruit fly (Drosophila melanogaster)	Insecta	Lim3³	specific RNA polymerase II transcription factor	48(a)		--
worm (Caenorhabditis elegans)	Secernentea	ceh-14³	LIM homeobox protein	57(a) (best of 2)		X(7563786-7565411) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LHX4 gene

LMO2² ISL1² LHX2² LHX9² LMX1B² LMO1² LHX5² LMO4²

LHX6² LHX1² LMX1A² LMO3² LHX3² LHX8² ISL2²

18/30 SIMAP similar genes for LHX4 using alignment to 5 protein entries: LHX4_HUMAN (see all proteins) (see all similar genes):

LHX3 LMO3 LMO1 LHX1 LHX2 LHX6

LHX8 LMO4 LHX9 ISL2 LMO2 LIMD1

LMX1B FBLIM1 ISL1 LIMS3 LIMS1 FHL1

LHX4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912642^1,2	C	pathogenic	202744036(+)	`ACAGGC/TGCTTC`	2	R C	mis¹		1	EU	1317
rs80318504^1,2	F	--	151428566(+)	`CAGTAT/CTGGTG`	1	--	us2k¹		1	NA	120
rs355617^1,2	C	--	151428619(-)	`CGCGCG/AGGAGG`	1	--	us2k¹		7	NA EA CSA WA	376
rs4259598^1,2	C,F,A	--	151428786(+)	`NNNNTT/CTTCTT`	1	--	us2k¹ trp³		6	NA WA CSA	246
rs113542020^1,2		--	151428875(+)	`ACACAC/AAAGTC`	1	--	us2k¹		1	CSA	2
rs355616^1,2	C,F,H	--	151428912(-)	`TGCGCT/AGCTTA`	1	--	us2k¹		12	NA EA NS WA CSA	796
rs7530324^1,2	C	--	151428938(+)	`CTCCCC/TCGCCC`	1	--	us2k¹		3	NA WA	240
rs78934397^1,2	C,F	--	151429030(+)	`CTGGGG/AAGGGC`	1	--	us2k¹		1	WA	118
rs74132408^1,2	C,F	--	151429037(+)	`GGGCAC/TACAGT`	1	--	us2k¹		5	WA NA EA	362
rs75410710^1,2	C,F	--	151429604(+)	`GGGGGG/ACCTGC`	1	--	us2k¹		2	NA EA	240

HapMap Linkage Disequilibrium report for LHX4 (180199421 - 180249380 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for LHX4
3 CNVs: 70515 4264 65331
Human Gene Mutation Database (HGMD): LHX4

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LHX4

DNA2.0 Custom Variant and Variant Library Synthesis for LHX4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LHX4 for disorders           About GeneDecksing

OMIM gene information: 602146
OMIM disorders: 262700
UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2

Defects in LHX4 are the cause of pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]; also known

as short stature pituitary and cerebellar defects and small sella turcica. The disorder is characterized by short

stature, pituitary and cerebellar defects, and small transverse depression crossing the midline on the superior

surface of the body of the sphenoid bone which houses the pituitary gland

Note=A chromosomal aberration involving LHX4 may be a cause of acute lymphoblastic leukemia. Translocation

t(1;14)(q25;q32) with IGHG1

20 diseases for LHX4: About MalaCards

pituitary hormone deficiency combined pituitary hormone deficiency borjeson-forssman-lehmann syndrome pituitary hormone deficiency, combined 4

isolated growth hormone deficiency growth hormone deficiency short stature delayed puberty

panhypopituitarism hypopituitarism pituitary hypoplasia synovial sarcoma

acute lymphoblastic leukemia lymphoblastic leukemia anophthalmia holoprosencephaly

hypothyroidism sarcoma leukemia neuronitis

3 diseases from the University of Copenhagen DISEASES database for LHX4:

Hypopituitarism Pituitary hypoplasia Holoprosencephaly

3 Novoseek disease relationships for LHX4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
panhypopituitarism	90.6	5	19337183 (2), 17527005 (2), 20389107 (1)
hypopituitarism	86.1	1	18728160 (1)
short stature	66.9	2	11567216 (2)

Human Genome Epidemiology (HuGE) Navigator: LHX4 (3 documents)

Export disorders for LHX4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LHX4 gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with LHX4)

Utopia: connect your pdf to the dynamic
world of online information

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. (PubMed id 11567216)^{1, 2, 3, 9} Machinis K.... Amselem S. (2001)
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. (PubMed id 17527005)^{1, 2, 9} Tajima T....Fujieda K. (2007)
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. (PubMed id 18073311)^{1, 2} Pfaeffle R.W....Rhodes S.J. (2008)
cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4. (PubMed id 11844481)^{1, 3} Liu Y....Qiang B. (2002)
A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4. (PubMed id 12118377)^{1, 2} Kawamata N....Oshimi K. (2002)
Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. (PubMed id 15998782)^{1, 9} Machinis K. and Amselem S. (2005)
Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. (PubMed id 10788441)^{1, 9} Howard P.W. and Maurer R.A. (2000)
Panhypopituitarism presenting as life-threatening hear t failure caused by an inherited microdeletion in 1q25 including LHX4. (PubMed id 22232309)¹ Filges I....Szinnai G. (2012)
Downregulation of alpha-fetoprotein expression by LHX 4: a critical role in hepatocarcinogenesis. (PubMed id 21965270)¹ Hung T.M....Lee P.H. (2011)
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. (PubMed id 21270112)¹ Reynaud R....Brue T. (2011)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 89884	HGNC: 21734	AceView: LHX4	Ensembl:ENSG00000121454	euGenes: HUgn89884
ECgene: LHX4	H-InvDB: LHX4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Name	Description
PharmGKB entry for LHX4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LHX4	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LHX4

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