RMND1 (required for meiotic nuclear division 1 homolog)

2016-08-01  

Identity

HGNC
LOCATION
6q25.1
LOCUSID
ALIAS
C6orf96,COXPD11,RMD1,bA351K16,bA351K16.3
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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/cancer-prone-explorer/tumors-explorer/js/lib/popper.js