LMOD3 (leiomodin 3)

2015-03-01  

Identity

HGNC
LMOD3
LOCATION
3p14.1
LOCUSID
56203
ALIAS
NEM10

Other Information

Locus ID:

NCBI: 56203
MIM: 616112
HGNC: 6649
Ensembl: ENSG00000163380

Variants:

dbSNP: 56203
ClinVar: 56203
TCGA: ENSG00000163380
COSMIC: LMOD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163380ENST00000420581Q0VAK6
ENSG00000163380ENST00000475434Q0VAK6
ENSG00000163380ENST00000489031Q0VAK6

Expression (GTEx)

0
50
100
150
200
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
252505742014Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.53
166331402006Risperidone-related weight gain: genetic and nongenetic predictors.26
293310792018LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.3
302911842018Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.3
288159442017Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.1
299232482019Kleine-Levin syndrome is associated with LMOD3 variants.1

Citation

Dessen P

LMOD3 (leiomodin 3)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55144/lmod3