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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
146606112004A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.34
164764252006Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations.22
193770682009Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.21
204740832010A novel custom resequencing array for dilated cardiomyopathy.20
200664282010Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.19
173942032007Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.14
202019372010Common susceptibility variants examined for association with dilated cardiomyopathy.11
246688112014Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.11
223498652012Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.8

Citation

Dessen P

LDB3 (LIM domain binding 3)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50933/ldb3