Gene Gene information from NCBI Gene database.
Entrez ID 57128
Gene name LYR motif containing 4
Gene symbol LYRM4
Synonyms (NCBI Gene)
C6orf149CGI-203COXPD19ISD11
Chromosome 6
Chromosome location 6p25.1
Summary 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.
497
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613311 21365 ENSG00000214113
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 19 Pathogenic rs587777218 RCV000088687
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LYRM4-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 30031876
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 19068216 Associate
★☆☆☆☆
Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 Combined Oxidative Phosphorylation Deficiency GENOMICS_ENGLAND_DG 23814038
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 Combined Oxidative Phosphorylation Deficiency UNIPROT_DG 23814038
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 Combined Oxidative Phosphorylation Deficiency CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 Combined Oxidative Phosphorylation Deficiency CTD_human_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Crohn Disease Crohn Disease GWASDB_DG 18587394
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 19068216 Associate
★☆☆☆☆
Found in Text Mining only
Cytochrome c Oxidase Deficiency Cytochrome c oxidase deficiency Pubtator 23814038 Associate
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver HPO_DG
★☆☆☆☆
Found in Text Mining only