LHX4

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; OMA:LHX4 - orthologs
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 155,573,777 bp [2] End 155,627,430 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell sperm secondary oocyte testicle right hemisphere of cerebellum left testis body of pancreas rectum right testis stromal cell of endometrium Top expressed in pineal gland urethra male urethra serosa of urinary bladder muscle layer of urethra neural layer of retina epithelium of male urethra basal plate rib lamina propria of urinary bladder More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding metal ion binding DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific methyl-CpG binding RNA polymerase II transcription regulatory region sequence-specific DNA binding Cellular component intracellular anatomical structure 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 placenta development transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II 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: 155.57 – 155.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   44298466.
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. doi:10.1002/j.1460-2075.1994.tb06582.x. 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. Bibcode:2002PNAS...9916899M. 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. S2CID   45542882.
• 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.