Aliases for LYRM4 Gene
Aliases for LYRM4 Gene
External Ids for LYRM4 Gene
- HGNC: 21365
- Entrez Gene: 57128
- Ensembl: ENSG00000214113
- OMIM: 613311
- UniProtKB: Q9HD34
Previous HGNC Symbols for LYRM4 Gene
- C6orf149
Previous GeneCards Identifiers for LYRM4 Gene
- GC06M005049
- GC06M005103
- GC06M004983
Summaries for LYRM4 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. [provided by RefSeq, Sep 2016]
GeneCards Summary for LYRM4 Gene
LYRM4 (LYR Motif Containing 4) is a Protein Coding gene. Diseases associated with LYRM4 include Combined Oxidative Phosphorylation Deficiency 19 and Friedreich Ataxia 1. Among its related pathways are Metabolism and Mitochondrial iron-sulfur cluster biogenesis.
UniProtKB/Swiss-Prot for LYRM4 Gene
-
Required for nuclear and mitochondrial iron-sulfur protein biosynthesis.
Additional gene information for LYRM4 Gene
- Monarch Initiative
- Search for LYRM4 at DataMed
- Search for LYRM4 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LYRM4 Gene
Genomics for LYRM4 Gene
GeneHancer (GH) Regulatory Elements for LYRM4 Gene
Promoters and enhancers for LYRM4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around LYRM4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the LYRM4 gene promoter:
-
- FOXO1a
- FOXO1
- HOXA3
- Pax-4a
- YY1
- HFH-3
- FOXI1
- En-1
- Nkx2-2
- Cart-1
Regulatory Element Products
Genomic Locations for LYRM4 Gene
Genomic Locations for LYRM4 Gene
- chr6:5,031,753-5,260,950
- (GRCh38/hg38)
- Size:
- 229,198 bases
- Orientation:
- Minus strand
- chr6:5,102,827-5,261,172
- (GRCh37/hg19)
- Size:
- 158,346 bases
- Orientation:
- Minus strand
Genomic View for LYRM4 Gene
Genes around LYRM4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p25.1 by Entrez Gene
- 6p25.1 by HGNC
- 6p25.1 by Ensembl
LYRM4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LYRM4 Gene
Proteins for LYRM4 Gene
-
Protein details for LYRM4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HD34-LYRM4_HUMAN
- Recommended name:
- LYR motif-containing protein 4
- Protein Accession:
- Q9HD34
- A8K543
- Q5XKP1
Protein attributes for LYRM4 Gene
- Size:
- 91 amino acids
- Molecular mass:
- 10758 Da
- Quaternary structure:
-
- Interacts with FXN. Interaction is increased by nickel. Interaction is inhibited by calcium, magnesium, manganese, copper, cobalt, zinc, and iron. Forms a complex with the cytosolic/nuclear form of NFS1. The complex increased the stability of NFS1.
- Miscellaneous:
-
- Reduction of LYRM4 levels by siRNA increases the total iron content, and reduces cytosolic and mitochondrial aconitase activities and NFS1 protein levels.
Protein Expression for LYRM4 Gene
Post-translational modifications for LYRM4 Gene
Other Protein References for LYRM4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for LYRM4
- Novus Biologicals Antibodies for LYRM4
- Invitrogen Antibodies for LYRM4 (AFLGC-LYRM4)
- GeneTex Lyrm4 Antibody for LYRM4
-
Boster Bio Antibodies for LYRM4
Protein Products
-
OriGene Purified Proteins for LYRM4
- Search Origene for MassSpec and Protein Over-expression Lysates for LYRM4
- Origene Custom Protein Services for LYRM4
- antibodies-online: Search results for 7 available LYRM4 Proteins ranked by validation data
- Compare Top LYRM4 Proteins
-
Quality Products:
- Search GeneTex for Proteins for LYRM4
Assay Products
No data available for DME Specific Peptides for LYRM4 Gene
Domains & Families for LYRM4 Gene
Gene Families for LYRM4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for LYRM4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LYRM4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9HD34- Family:
-
- Belongs to the complex I LYR family.
Function for LYRM4 Gene
Molecular function for LYRM4 Gene
- UniProtKB/Swiss-Prot Function:
- Required for nuclear and mitochondrial iron-sulfur protein biosynthesis.
Phenotypes From GWAS Catalog for LYRM4 Gene
Phenotypes for LYRM4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LYRM4
-
CRISPR Products
-
OriGene CRISPR knockouts for LYRM4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LYRM4
- genomics-online: gRNA clones - Search results for available LYRM4 gene related products
- Applied Biological Materials CRISPR for LYRM4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LYRM4
- GenScript: Design CRISPR guide RNA sequences for LYRM4
miRNA for LYRM4 Gene
- miRTarBase miRNAs that target LYRM4
-
- hsa-mir-548s (MIRT219209)
- hsa-mir-921 (MIRT458147)
- hsa-mir-142-3p (MIRT458148)
- hsa-mir-6073 (MIRT458149)
- hsa-mir-650 (MIRT458150)
- hsa-mir-3612 (MIRT458151)
- hsa-mir-2467-3p (MIRT458152)
- hsa-mir-6086 (MIRT458153)
- hsa-mir-377-5p (MIRT458154)
- hsa-mir-4487 (MIRT458155)
- hsa-mir-1827 (MIRT458156)
- hsa-mir-558 (MIRT458157)
- hsa-mir-3160-3p (MIRT458158)
- hsa-mir-4257 (MIRT458159)
- hsa-mir-1247-3p (MIRT458160)
- hsa-mir-3174 (MIRT458161)
- hsa-mir-6511a-5p (MIRT458162)
- hsa-mir-1910-3p (MIRT458163)
- hsa-mir-1273g-3p (MIRT458164)
- hsa-mir-6516-5p (MIRT458165)
- hsa-mir-7703 (MIRT458166)
- hsa-mir-455-3p (MIRT458167)
- hsa-mir-6807-5p (MIRT458168)
- hsa-mir-6720-5p (MIRT458169)
- hsa-mir-6512-3p (MIRT458170)
- hsa-mir-661 (MIRT458171)
- hsa-mir-6499-3p (MIRT458172)
- hsa-mir-4793-3p (MIRT458173)
- hsa-mir-766-3p (MIRT458174)
- hsa-mir-6742-3p (MIRT458175)
- hsa-mir-6849-3p (MIRT458176)
- hsa-mir-508-5p (MIRT458177)
- hsa-mir-377-3p (MIRT495152)
- hsa-mir-4286 (MIRT495153)
- hsa-mir-1224-3p (MIRT495154)
- hsa-mir-6736-5p (MIRT542114)
- hsa-mir-4701-3p (MIRT542115)
- hsa-mir-1262 (MIRT542116)
- hsa-mir-542-3p (MIRT542117)
- hsa-mir-6776-5p (MIRT542118)
- hsa-mir-7977 (MIRT670496)
- hsa-mir-4697-5p (MIRT670497)
- hsa-mir-4488 (MIRT670498)
- hsa-mir-1237-5p (MIRT670499)
- hsa-mir-6816-5p (MIRT670500)
- hsa-mir-3196 (MIRT670501)
- hsa-mir-3180-3p (MIRT670502)
- hsa-mir-3180 (MIRT670503)
- hsa-mir-24-3p (MIRT670504)
- hsa-mir-4284 (MIRT670505)
- hsa-mir-4787-5p (MIRT670506)
- hsa-mir-5186 (MIRT681419)
- hsa-mir-3606-5p (MIRT687615)
- hsa-mir-3926 (MIRT687616)
- hsa-mir-3190-5p (MIRT687617)
- hsa-mir-151b (MIRT687618)
- hsa-mir-151a-5p (MIRT687619)
- hsa-mir-6771-3p (MIRT687620)
- hsa-mir-5698 (MIRT702168)
- hsa-mir-143-5p (MIRT702169)
- hsa-mir-675-5p (MIRT702170)
- hsa-mir-4466 (MIRT702171)
- hsa-mir-4430 (MIRT702172)
- hsa-mir-3652 (MIRT702173)
- hsa-mir-122-5p (MIRT702174)
- hsa-mir-504-3p (MIRT702175)
- hsa-mir-3135b (MIRT702176)
- hsa-mir-215-3p (MIRT702177)
- hsa-mir-4673 (MIRT702178)
- hsa-mir-4645-5p (MIRT702179)
- hsa-mir-2681-3p (MIRT702180)
- hsa-mir-1273e (MIRT702181)
- hsa-mir-7847-3p (MIRT710690)
- hsa-mir-6880-5p (MIRT710691)
- hsa-mir-6851-5p (MIRT710692)
- hsa-mir-3689d (MIRT710693)
- hsa-mir-6134 (MIRT710694)
- hsa-mir-6840-3p (MIRT710695)
- hsa-mir-665 (MIRT710696)
- hsa-mir-4459 (MIRT710697)
- hsa-mir-129-5p (MIRT783527)
- hsa-mir-1304-3p (MIRT783682)
- hsa-mir-3664-5p (MIRT785083)
- hsa-mir-3672 (MIRT785140)
- hsa-mir-4524a-3p (MIRT786118)
- hsa-mir-4639-3p (MIRT786260)
- hsa-mir-5007-5p (MIRT786953)
- hsa-mir-6794-3p (MIRT788772)
- hsa-mir-6864-3p (MIRT789145)
- hsa-mir-8055 (MIRT789695)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LYRM4
- Browse OriGene Inhibitory RNA Products For LYRM4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LYRM4
- genomics-online: shRNA clones - Search results for available LYRM4 gene related products
Clone Products
-
OriGene ORF clones in human for LYRM4
- RC202346
- RC202346L1
- RC202346L2
- RC202346L3
- RC202346L4
- RC228037
- RC228037L1
- RC228037L2
- RC228037L3
- RC228037L4
- RC228069
- RC228069L1
- RC228069L2
- RC228069L3
- RC228069L4
- RC502346
- RG202346
- RG228037
- RG228069
- RC202346L1V
- RC202346L2V
- RC202346L3V
- RC202346L4V
- RC228037L1V
- RC228037L2V
- RC228037L3V
- RC228037L4V
- RC228069L1V
- RC228069L2V
- RC228069L3V
- RC228069L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LYRM4
- Addgene plasmids for LYRM4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LYRM4
- genomics-online: cdna clones - Search results for available LYRM4 gene related products
- orf clones - Search results for available LYRM4 gene related products
- Applied Biological Materials Clones for LYRM4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for LYRM4 Gene
Localization for LYRM4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LYRM4 Gene
- Mitochondrion. Nucleus.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 2 |
- Nuclear bodies (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0016604 | nuclear body | IDA | -- |
Pathways & Interactions for LYRM4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Mitochondrial iron-sulfur cluster biogenesis | ||
Pathways by source for LYRM4 Gene
2 Reactome pathways for LYRM4 Gene
UniProtKB/Swiss-Prot Q9HD34-LYRM4_HUMAN
- Pathway: Cofactor biosynthesis; iron-sulfur cluster biosynthesis.
Interacting Proteins for LYRM4 Gene
GPS-Prot Interaction Network for LYRM4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0044281 | small molecule metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for LYRM4 Gene
Transcripts for LYRM4 Gene
mRNA/cDNA for LYRM4 Gene
- (7) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (190) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000330636 7312 bps (uc003mwp.5)
- ENST00000606472 1005 bps (uc063lpg.1)
- ENST00000468929 1168 bps (uc063lph.1)
- ENST00000464010 1401 bps (uc010jnu.5)
- ENST00000463032 1487 bps (uc063lpi.1)
Unigene Clusters for LYRM4 Gene
- LYR motif containing 4:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LYRM4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LYRM4
- genomics-online: gRNA clones - Search results for available LYRM4 gene related products
- Applied Biological Materials CRISPR for LYRM4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LYRM4
- GenScript: Design CRISPR guide RNA sequences for LYRM4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LYRM4
- Browse OriGene Inhibitory RNA Products For LYRM4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LYRM4
- genomics-online: shRNA clones - Search results for available LYRM4 gene related products
Clone Products
-
OriGene ORF clones in human for LYRM4
- RC202346
- RC202346L1
- RC202346L2
- RC202346L3
- RC202346L4
- RC228037
- RC228037L1
- RC228037L2
- RC228037L3
- RC228037L4
- RC228069
- RC228069L1
- RC228069L2
- RC228069L3
- RC228069L4
- RC502346
- RG202346
- RG228037
- RG228069
- RC202346L1V
- RC202346L2V
- RC202346L3V
- RC202346L4V
- RC228037L1V
- RC228037L2V
- RC228037L3V
- RC228037L4V
- RC228069L1V
- RC228069L2V
- RC228069L3V
- RC228069L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LYRM4
- Addgene plasmids for LYRM4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LYRM4
- genomics-online: cdna clones - Search results for available LYRM4 gene related products
- orf clones - Search results for available LYRM4 gene related products
- Applied Biological Materials Clones for LYRM4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for LYRM4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Presumptive Podocytes Podocyte Layer
-
Epithelial Cells
- Presumptive Podocytes Podocyte Layer
This gene is overexpressed in Frontal cortex (12.1), Adrenal (9.3), and Gallbladder (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LYRM4 Gene
NURSA nuclear receptor signaling pathways regulating expression of LYRM4 Gene:
LYRM4SOURCE GeneReport for Unigene cluster for LYRM4 Gene:
Hs.387755mRNA Expression by UniProt/SwissProt for LYRM4 Gene:
Q9HD34-LYRM4_HUMAN
Tissue specificity:
Reduced mRNA levels in Friedreich ataxia patients.
Evidence on tissue expression from TISSUES for LYRM4 Gene
- Pancreas(4.1)
- Nervous system(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LYRM4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- respiratory
- skeletal muscle
Regions:
Head and neck:
- brain
Thorax:
- lung
Abdomen:
- liver
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for LYRM4
-
OriGene qPCR primer pairs and template standards for LYRM4
- genomics-online: primer clones - Search results for available LYRM4 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for LYRM4 Gene
Orthologs for LYRM4 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LYRM4 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Lyrm4 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC102550385 33 |
|
||
| dog (Canis familiaris) |
Mammalia | LYRM4 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LYRM4 34 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LYRM4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LYRM4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lyrm4 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lyrm4 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | bcn92 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ISD11 34 |
|
OneToOne |
- Species where no ortholog for LYRM4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for LYRM4 Gene
- ENSEMBL:
- Gene Tree for LYRM4 (if available)
- TreeFam:
- Gene Tree for LYRM4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LYRM4: view image
Paralogs for LYRM4 Gene
(82) SIMAP similar genes for LYRM4 Gene using alignment to 6 proteins:
- LYRM4_HUMAN
- C9J799_HUMAN
- C9JRX8_HUMAN
- C9JY28_HUMAN
- F5H189_HUMAN
- H7C4Q5_HUMAN
- ZNF585B
- EDRF1
- ASB11
- WARS
- UBIAD1
- CHID1
- ZNF564
- RNF217
- DCTN5
- FAM3A
- CRCP
- FAM210A
- BTBD2
- NF2
- ZNF212
- TMEM14B
- TNFRSF17
- SNX31
- TMEM44
- RBMS2
- SHANK2
- PLA2G6
- ZNF461
- USP10
- KDM5B
- FAM175A
- ZNF738
- ZNF737
- GCDH
- FAM129C
- DAPL1
- ATP6V0A1
- APOPT1
- HKR1
- NEK4
- ZNF28
- TSEN2
- SH3PXD2A
- AURA2
- UTY
- RUFY1
- PTPLA
- FHL2
- MPP4
- LAMB4
- CATSPERG
- BECN1
- PKN1
- TCF4
- SEPT2
- NRAMP1
- LEPROTL1
- ZNF763
- FAT3
- CFLAR
- HECW1
- OCEL1
- ERBB2
- GLT8D2
- EIF3L
- ZNF283
- NSRP1
- CLUL1
- MEFV
- DNAPTP3
- MED15
- TMEM135
- NPLOC4
- LINC00596
- ZNF20
- RBBP4
- SMCR7L
- KLHL2
- SPAG11B
- SPAG11A
- APOD
- FCHO2
- C4orf22
- ZNF100
- HMGA2
- SPATS2L
- ZNF195
Pseudogenes.org Pseudogenes for LYRM4 Gene
No data available for Paralogs for LYRM4 Gene
Variants for LYRM4 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs587777218 | pathogenic, Combined oxidative phosphorylation deficiency 19, Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595] | 5,216,622(-) | C/A/G/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs140860616 | likely-benign, not specified | 5,216,600(-) | A/G | intron_variant | |
| rs772243158 | likely-benign, not specified | 5,216,756(-) | AAAAAAAA/AAAAAAA/AAAAAAAAA | intron_variant | |
| rs2224391 | benign, not specified | 5,260,703(-) | A/C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000005692 | -- | 5,040,193(-) | C/T | genic_downstream_transcript_variant, intron_variant |
Gene Damage Index Score:
11.68;
93.21% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LYRM4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LYRM4 Gene
Disorders for LYRM4 Gene
(2) MalaCards diseases for LYRM4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 19 |
|
|
| friedreich ataxia 1 |
|
|
Search LYRM4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LYRM4_HUMAN- Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595]: A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function. {ECO:0000269 PubMed:23814038}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for LYRM4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for LYRM4 Gene
Publications for LYRM4 Gene
- Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. (PMID: 23814038) Lim SC … Compton AG (Human molecular genetics 2013) 2 3 4 58
- Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. (PMID: 17331979) Shan Y … Cortopassi G (Human molecular genetics 2007) 3 4 22 58
- Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A … Haiman CA (PLoS genetics 2011) 3 44 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
Products for LYRM4 Gene
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- Custom Antibody ServicesOriGene Antibodies for LYRM4
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- antibodies-online: Search results for 25 available LYRM4 Antibodies ranked by validation data
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- Quality Products:
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- genomics-online: cdna clones - Search results for available LYRM4 gene related products
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Sources for LYRM4 Gene
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