Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57128
Gene name Gene Name - the full gene name approved by the HGNC.
LYR motif containing 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LYRM4
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf149, CGI-203, COXPD19, ISD11
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis.
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT710697 hsa-miR-4459 HITS-CLIP 19536157
MIRT710696 hsa-miR-665 HITS-CLIP 19536157
MIRT710695 hsa-miR-6840-3p HITS-CLIP 19536157
MIRT710694 hsa-miR-6134 HITS-CLIP 19536157
MIRT458154 hsa-miR-377-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IDA 28634302
GO:0005515 Function Protein binding IPI 18650437, 26342079, 27499296, 29097656, 31664822, 33961781
GO:0005634 Component Nucleus IDA 23593335
GO:0005634 Component Nucleus IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613311 21365 ENSG00000214113
Protein
UniProt ID Q9HD34
Protein name LYR motif-containing protein 4
Protein function Stabilizing factor, of the core iron-sulfur cluster (ISC) assembly complex, that regulates, in association with NDUFAB1, the stability and the cysteine desulfurase activity of NFS1 and participates in the [2Fe-2S] clusters assembly on the scaffo
PDB 5USR , 5WGB , 5WKP , 5WLW , 6NZU , 6ODD , 6UXE , 6W1D , 6WI2 , 6WIH , 7RTK , 8PK8 , 8PK9 , 8PKA , 8RMC , 8RMD , 8RME , 8RMF , 8RMG , 8TVT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05347 Complex1_LYR 7 65 Complex 1 protein (LYR family) Family
Tissue specificity TISSUE SPECIFICITY: Reduced mRNA levels in Friedreich ataxia patients. {ECO:0000269|PubMed:17331979}.
Sequence
Sequence length 91
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial iron-sulfur cluster biogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation deficiency 19 rs587777218 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lactic Acidosis severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colitis Ulcerative Associate 19068216
Crohn Disease Associate 19068216
Cytochrome c Oxidase Deficiency Associate 23814038
Friedreich Ataxia Associate 21671584
Glioma Associate 37810780
Mitochondrial complex I deficiency Associate 23814038
Mitochondrial Diseases Associate 23814038, 26342079