RMND1 (required for meiotic nuclear division 1 homolog)

2016-08-01  

Identity

HGNC
RMND1
LOCATION
6q25.1
LOCUSID
55005
ALIAS
C6orf96,COXPD11,RMD1,bA351K16,bA351K16.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55005
MIM: 614917
HGNC: 21176
Ensembl: ENSG00000155906

Variants:

dbSNP: 55005
ClinVar: 55005
TCGA: ENSG00000155906
COSMIC: RMND1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155906ENST00000336451A0A2U3TZJ1
ENSG00000155906ENST00000444024Q9NWS8
ENSG00000155906ENST00000491268Q9NWS8
ENSG00000155906ENST00000622845A0A087WXU0
ENSG00000155906ENST00000644054A0A2R8YFC3
ENSG00000155906ENST00000644711A0A2R8Y4J4
ENSG00000155906ENST00000646926A0A2R8Y4P5

Expression (GTEx)

0
5
10
15
20
25
30
35
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
374500112024Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.0
374500112024Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.0
329117142020Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.12
329117142020Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.12
306010662019Association of RMND1/CCDC170-ESR1 single nucleotide polymorphisms with hip fracture and osteoporosis in postmenopausal women.8
312379262019Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation.1
306010662019Association of RMND1/CCDC170-ESR1 single nucleotide polymorphisms with hip fracture and osteoporosis in postmenopausal women.8
312379262019Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation.1
296718812018A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.8
296718812018A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.8
263951902016Hearing impairment and renal failure associated with RMND1 mutations.6
269282282016Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.83
263951902016Hearing impairment and renal failure associated with RMND1 mutations.6
269282282016Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.83
230220982012An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.32

Citation

Dessen P

RMND1 (required for meiotic nuclear division 1 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55903/favicon/gene-fusions/js/template.js