LMX1B (LIM homeobox transcription factor 1 beta)

2014-11-01 Affiliation

Identity

HGNC

LMX1B

LOCATION

9q33.3

LOCUSID

4010

ALIAS

FSGS10,LMX1.2,NPS1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4010
MIM: 602575
HGNC: 6654
Ensembl: ENSG00000136944

Variants:

dbSNP: 4010
ClinVar: 4010
TCGA: ENSG00000136944
COSMIC: LMX1B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000136944	ENST00000355497	O60663
ENSG00000136944	ENST00000373474	O60663
ENSG00000136944	ENST00000526117	O60663

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
20643727	2010	Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.	62
11956244	2002	Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation.	42
11956245	2002	The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.	37
17905480	2009	The transcription factor PITX3 is associated with sporadic Parkinson's disease.	31
21246047	2011	Adult raphe-specific deletion of Lmx1b leads to central serotonin deficiency.	29
25915474	2015	Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease.	29
23687361	2013	LMX1B mutations cause hereditary FSGS without extrarenal involvement.	27
15928687	2005	Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.	25
20634891	2010	Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.	18
26526610	2015	Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b.	15

Citation

Dessen P

LMX1B (LIM homeobox transcription factor 1 beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/54946/lmx1b