LHX4

LIM/homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4 gene.[5][6][7]

LHX4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3MMK
Identifiers
Aliases	LHX4, CPHD4, LIM homeobox 4
External IDs	OMIM: 602146 MGI: 101776 HomoloGene: 56497 GeneCards: LHX4
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q25.2 Start 180,230,264 bp[1] End 180,278,984 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 G3|1 67.47 cM Start 155,698,031 bp[2] End 155,751,684 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • GO:0001948 protein binding • metal ion binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • sequence-specific DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • methyl-CpG binding • RNA polymerase II regulatory region sequence-specific DNA binding Cellular component • intracellular • cell nucleus Biological process • animal organ morphogenesis • medial motor column neuron differentiation • negative regulation of apoptotic process • regulation of transcription, DNA-templated • motor neuron axon guidance • transcription, DNA-templated • placentation • transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter • neuron differentiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	89884	16872
Ensembl	ENSG00000121454	ENSMUSG00000026468
UniProt	Q969G2	P53776
RefSeq (mRNA)	NM_033343	NM_010712
RefSeq (protein)	NP_203129	NP_034842
Location (UCSC)	Chr 1: 180.23 – 180.28 Mb	Chr 1: 155.7 – 155.75 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 may function as a transcriptional regulator and be involved in control of differentiation and development of the pituitary gland. Mutations in this gene are associated with syndromic short stature and pituitary and hindbrain defects. An alternative splice variant has been described but its biological nature has not been determined.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000121454 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026468 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Liu Y, Fan M, Yu S, Zhou Y, Wang J, Yuan J, Qiang B (Feb 2002). "cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4". Brain Res. 928 (1–2): 147–155. doi:10.1016/S0006-8993(01)03243-7. PMID 11844481.
6. Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S (Oct 2001). "Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4". Am J Hum Genet. 69 (5): 961–968. doi:10.1086/323764. PMC 1274372. PMID 11567216.
7. "Entrez Gene: LHX4 LIM homeobox 4".

Further reading

• Li H, Witte DP, Branford WW, et al. (1994). "Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival". EMBO J. 13 (12): 2876–85. PMC 395169. PMID 7913017.
• Howard PW, Maurer RA (2000). "Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors". J. Biol. Chem. 275 (18): 13336–13342. doi:10.1074/jbc.275.18.13336. PMID 10788441.
• Kawamata N, Sakajiri S, Sugimoto KJ, et al. (2002). "A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4". Oncogene. 21 (32): 4983–4991. doi:10.1038/sj.onc.1205628. PMID 12118377.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID 14714741.
• Sobrier ML, Attié-Bitach T, Netchine I, et al. (2006). "Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development". Gene Expr. Patterns. 5 (2): 279–284. doi:10.1016/j.modgep.2004.07.003. PMID 15567726.
• Machinis K, Amselem S (2005). "Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects". J. Clin. Endocrinol. Metab. 90 (9): 5456–5462. doi:10.1210/jc.2004-2332. PMID 15998782.