LDB3 (LIM domain binding 3)

2009-06-01  

Identity

HGNC
LDB3
LOCATION
10q23.2
LOCUSID
11155
ALIAS
CMD1C,CMH24,CMPD3,CYPHER,LDB3Z1,LDB3Z4,LVNC3,MFM4,ORACLE,PDLIM6,ZASP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11155
MIM: 605906
HGNC: 15710
Ensembl: ENSG00000122367

Variants:

dbSNP: 11155
ClinVar: 11155
TCGA: ENSG00000122367
COSMIC: LDB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122367ENST00000263066O75112
ENSG00000122367ENST00000361373O75112
ENSG00000122367ENST00000372056O75112
ENSG00000122367ENST00000372066O75112
ENSG00000122367ENST00000372066A0A0S2Z530
ENSG00000122367ENST00000429277O75112
ENSG00000122367ENST00000477489A0A096LPD7
ENSG00000122367ENST00000542786A0A0C4DGG7
ENSG00000122367ENST00000623007O75112
ENSG00000122367ENST00000623007A0A0S2Z501
ENSG00000122367ENST00000623056O75112

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
389282522024Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.0
389282522024Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.0
362535312023Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.4
362535312023Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.4
333089392021Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein.4
333089392021Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein.4
309487632019Alterations of protein expression of phospholamban, ZASP and plakoglobin in human atria in subgroups of seniors.3
313791462019Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator (ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy.6
309487632019Alterations of protein expression of phospholamban, ZASP and plakoglobin in human atria in subgroups of seniors.3
313791462019Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator (ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy.6
275465992017A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.9
283496802017Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.5
275465992017A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.9
283496802017Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.5
264192792016D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.5

Citation

Dessen P

LDB3 (LIM domain binding 3)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50933/ldb3-(lim-domain-binding-3)