Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51218
Gene name Gene Name - the full gene name approved by the HGNC.
Glutaredoxin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLRX5
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf87, FLB4739, GRX5, PR01238, PRO1238, PRSA, SIDBA3, SPAHGC
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SIDBA3, SPAHGC
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs765487627 T>C Pathogenic Missense variant, coding sequence variant
rs869312752 A>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050727 hsa-miR-18a-5p CLASH 23622248
MIRT046660 hsa-miR-222-3p CLASH 23622248
MIRT280555 hsa-miR-140-5p PAR-CLIP 21572407
MIRT280557 hsa-miR-152-3p PAR-CLIP 21572407
MIRT280559 hsa-miR-148b-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24606901, 27499296, 28380382, 32296183
GO:0005634 Component Nucleus IEA
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion ISS
GO:0005759 Component Mitochondrial matrix IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609588 20134 ENSG00000182512
Protein
UniProt ID Q86SX6
Protein name Glutaredoxin-related protein 5, mitochondrial (Monothiol glutaredoxin-5)
Protein function Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosyn
PDB 2MMZ , 2WUL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00462 Glutaredoxin 54 119 Glutaredoxin Domain
Sequence
MSGSLGRAAAALLRWGRGAGGGGLWGPGVRAAGSGAGGGGSAEQLDALVKKDKVVVFLKG
TPEQPQCGFSNAVVQILRLHGVRDYAAYNVLDDPELRQGIKDYSNWPTIPQVYLNGEFV
G
GCDILLQMHQNGDLVEELKKLGIHSALLDEKKDQDSK
Sequence length 157
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial iron-sulfur cluster biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
17485548, 20364084, 26100117, 25342667, 27604308
Developmental regression Developmental regression rs1224421127
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Left ventricular hypertrophy Left Ventricular Hypertrophy rs397516037
Unknown
Disease term Disease name Evidence References Source
Sideroblastic Anemia sideroblastic anemia 3 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Anemia Associate 17485548, 20364084
Anemia hypochromic microcytic Associate 17485548
Anemia Sideroblastic Associate 17485548, 20364084, 34732213
Carcinoma Non Small Cell Lung Associate 26685324
Carcinoma Renal Cell Associate 35096270
Cluster Headache Associate 34732213
Dry Eye Syndromes Stimulate 32896986
Hyperglycinemia Nonketotic Associate 24334290, 26947380, 34732213
Inflammation Associate 32896986
Intellectual Disability Associate 34732213