LYRM4 (LYR motif containing 4)

2014-11-01  

Identity

HGNC
LOCATION
6p25.1
LOCUSID
ALIAS
C6orf149,CGI-203,COXPD19,ISD11
FUSION GENES

Other Information

Locus ID:

NCBI: 57128
MIM: 613311
HGNC: 21365
Ensembl: ENSG00000214113

Variants:

dbSNP: 57128
ClinVar: 57128
TCGA: ENSG00000214113
COSMIC: LYRM4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000214113ENST00000330636Q9HD34
ENSG00000214113ENST00000463032H7C4Q5
ENSG00000214113ENST00000464010C9JRX8
ENSG00000214113ENST00000468929C9J799
ENSG00000214113ENST00000480566C9JY28
ENSG00000214113ENST00000500576F5H189

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Mitochondrial iron-sulfur cluster biogenesisREACTOMER-HSA-1362409

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
194544872009Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis.67
173319792007Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.55
190682162009Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.53
191747802009Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.52
286343022017Structure of human Fe-S assembly subcomplex reveals unexpected cysteine desulfurase architecture and acyl-ACP-ISD11 interactions.43
194229352009Genetic risk profiling and prediction of disease course in Crohn's disease patients.33
238140382013Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.32
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

LYRM4 (LYR motif containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68728/lyrm4