LYRM7 (LYR motif containing 7)

2014-11-01  

Identity

HGNC
LYRM7
LOCATION
5q23.3
LOCUSID
90624
ALIAS
C5orf31,MC3DN8,MZM1L

Other Information

Locus ID:

NCBI: 90624
MIM: 615831
HGNC: 28072
Ensembl: ENSG00000186687

Variants:

dbSNP: 90624
ClinVar: 90624
TCGA: ENSG00000186687
COSMIC: LYRM7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186687ENST00000379380Q5U5X0
ENSG00000186687ENST00000507584D6RBV5
ENSG00000186687ENST00000510516D6R994

Expression (GTEx)

0
5
10
15
20
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
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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
240143942013A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.16
269126322016LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.4
286941942017LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.3

Citation

Dessen P

LYRM7 (LYR motif containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68730/lyrm7