MALRD1 (MAM and LDL receptor class A domain containing 1)

2014-11-01  

Identity

HGNC
MALRD1
LOCATION
10p12.31
LOCUSID
340895
ALIAS
C10orf112,DIET1,bA265G8.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 340895
MIM: 617715
HGNC: 24331
Ensembl: ENSG00000204740

Variants:

dbSNP: 340895
ClinVar: 340895
TCGA: ENSG00000204740
COSMIC: MALRD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204740ENST00000377265H0Y3D6
ENSG00000204740ENST00000377266U5GXS0
ENSG00000204740ENST00000418367B7ZBP3
ENSG00000204740ENST00000454679Q5VYJ5

Expression (GTEx)

0
1
2
3
4
5
6
7
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

References

Pubmed IDYearTitleCitations
316940642020Clinical variability and probable founder effect in oculocutaneous albinism type 7.0
316940642020Clinical variability and probable founder effect in oculocutaneous albinism type 7.0
260452622015Diet1 is a regulator of fibroblast growth factor 15/19-dependent bile acid synthesis.3
260452622015Diet1 is a regulator of fibroblast growth factor 15/19-dependent bile acid synthesis.3
195911292010D10S1423 identifies a susceptibility locus for Alzheimer's disease (AD7) in a prospective, longitudinal, double-blind study of asymptomatic individuals: results at 14 years.4
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
195911292010D10S1423 identifies a susceptibility locus for Alzheimer's disease (AD7) in a prospective, longitudinal, double-blind study of asymptomatic individuals: results at 14 years.4
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
191032772009Predicted gene sequence C10orf112 is transcribed, exhibits tissue-specific expression, and may correspond to AD7.5
191032772009Predicted gene sequence C10orf112 is transcribed, exhibits tissue-specific expression, and may correspond to AD7.5

Citation

Dessen P

MALRD1 (MAM and LDL receptor class A domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68768/malrd1-(mam-and-ldl-receptor-class-a-domain-containing-1)