Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all(2)

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

Show/Hide all(237)

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
MIRT280554	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT557624	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT280565	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT557623	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT557621	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT557622	hsa-miR-323b-5p	PAR-CLIP	21572407
MIRT557620	hsa-miR-410-5p	PAR-CLIP	21572407
MIRT557619	hsa-miR-494-5p	PAR-CLIP	21572407
MIRT280556	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT280563	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT557618	hsa-miR-582-5p	PAR-CLIP	21572407
MIRT280560	hsa-miR-2054	PAR-CLIP	21572407
MIRT280555	hsa-miR-140-5p	PAR-CLIP	21572407
MIRT280557	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT280559	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT280554	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT557624	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT280565	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT557623	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT557621	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT557622	hsa-miR-323b-5p	PAR-CLIP	21572407
MIRT557620	hsa-miR-410-5p	PAR-CLIP	21572407
MIRT557619	hsa-miR-494-5p	PAR-CLIP	21572407
MIRT280556	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT280563	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT557618	hsa-miR-582-5p	PAR-CLIP	21572407
MIRT280560	hsa-miR-2054	PAR-CLIP	21572407
MIRT1021455	hsa-miR-1270	CLIP-seq
MIRT1021456	hsa-miR-1273g	CLIP-seq
MIRT1021457	hsa-miR-1275	CLIP-seq
MIRT1021458	hsa-miR-128	CLIP-seq
MIRT1021459	hsa-miR-129-5p	CLIP-seq
MIRT1021460	hsa-miR-148a	CLIP-seq
MIRT1021461	hsa-miR-148b	CLIP-seq
MIRT1021462	hsa-miR-152	CLIP-seq
MIRT1021463	hsa-miR-186	CLIP-seq
MIRT1021464	hsa-miR-197	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021466	hsa-miR-27a	CLIP-seq
MIRT1021467	hsa-miR-27b	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT1021469	hsa-miR-3175	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT1021471	hsa-miR-3672	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021473	hsa-miR-369-3p	CLIP-seq
MIRT1021474	hsa-miR-374c	CLIP-seq
MIRT1021475	hsa-miR-375	CLIP-seq
MIRT1021476	hsa-miR-3942-5p	CLIP-seq
MIRT1021477	hsa-miR-4260	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT1021479	hsa-miR-4282	CLIP-seq
MIRT1021480	hsa-miR-4310	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021482	hsa-miR-4499	CLIP-seq
MIRT1021483	hsa-miR-4504	CLIP-seq
MIRT1021484	hsa-miR-4513	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT1021486	hsa-miR-4517	CLIP-seq
MIRT1021487	hsa-miR-4531	CLIP-seq
MIRT1021488	hsa-miR-4665-5p	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT1021491	hsa-miR-4703-5p	CLIP-seq
MIRT1021492	hsa-miR-4712-3p	CLIP-seq
MIRT1021493	hsa-miR-4723-5p	CLIP-seq
MIRT1021494	hsa-miR-4731-3p	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT1021496	hsa-miR-4753-3p	CLIP-seq
MIRT1021497	hsa-miR-4801	CLIP-seq
MIRT1021498	hsa-miR-487a	CLIP-seq
MIRT1021499	hsa-miR-495	CLIP-seq
MIRT1021500	hsa-miR-587	CLIP-seq
MIRT1021501	hsa-miR-620	CLIP-seq
MIRT1021502	hsa-miR-633	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT1021504	hsa-miR-655	CLIP-seq
MIRT1021505	hsa-miR-9	CLIP-seq
MIRT2002667	hsa-miR-1178	CLIP-seq
MIRT1021456	hsa-miR-1273g	CLIP-seq
MIRT1021458	hsa-miR-128	CLIP-seq
MIRT1021459	hsa-miR-129-5p	CLIP-seq
MIRT2002668	hsa-miR-130a	CLIP-seq
MIRT2002669	hsa-miR-130b	CLIP-seq
MIRT1021460	hsa-miR-148a	CLIP-seq
MIRT1021461	hsa-miR-148b	CLIP-seq
MIRT1021462	hsa-miR-152	CLIP-seq
MIRT1021463	hsa-miR-186	CLIP-seq
MIRT1021464	hsa-miR-197	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021466	hsa-miR-27a	CLIP-seq
MIRT1021467	hsa-miR-27b	CLIP-seq
MIRT2002670	hsa-miR-301a	CLIP-seq
MIRT2002671	hsa-miR-301b	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT2002672	hsa-miR-3131	CLIP-seq
MIRT2002673	hsa-miR-3163	CLIP-seq
MIRT2002674	hsa-miR-3183	CLIP-seq
MIRT2002675	hsa-miR-324-5p	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT2002676	hsa-miR-3591-3p	CLIP-seq
MIRT2002677	hsa-miR-3662	CLIP-seq
MIRT2002678	hsa-miR-3666	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT2002679	hsa-miR-3682-5p	CLIP-seq
MIRT1021473	hsa-miR-369-3p	CLIP-seq
MIRT1021474	hsa-miR-374c	CLIP-seq
MIRT1021475	hsa-miR-375	CLIP-seq
MIRT2002680	hsa-miR-383	CLIP-seq
MIRT2002681	hsa-miR-3940-3p	CLIP-seq
MIRT1021476	hsa-miR-3942-5p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2002682	hsa-miR-4295	CLIP-seq
MIRT1021480	hsa-miR-4310	CLIP-seq
MIRT2002683	hsa-miR-4325	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021483	hsa-miR-4504	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT2002684	hsa-miR-454	CLIP-seq
MIRT2002685	hsa-miR-4668-3p	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT2002686	hsa-miR-4698	CLIP-seq
MIRT1021491	hsa-miR-4703-5p	CLIP-seq
MIRT2002687	hsa-miR-4723-3p	CLIP-seq
MIRT1021494	hsa-miR-4731-3p	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT2002688	hsa-miR-4772-5p	CLIP-seq
MIRT1021497	hsa-miR-4801	CLIP-seq
MIRT1021498	hsa-miR-487a	CLIP-seq
MIRT1021499	hsa-miR-495	CLIP-seq
MIRT2002689	hsa-miR-500a	CLIP-seq
MIRT2002690	hsa-miR-501-3p	CLIP-seq
MIRT2002691	hsa-miR-502-3p	CLIP-seq
MIRT2002692	hsa-miR-510	CLIP-seq
MIRT1021500	hsa-miR-587	CLIP-seq
MIRT2002693	hsa-miR-600	CLIP-seq
MIRT2002694	hsa-miR-611	CLIP-seq
MIRT2002695	hsa-miR-642a	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT1021504	hsa-miR-655	CLIP-seq
MIRT2002696	hsa-miR-767-3p	CLIP-seq
MIRT1021456	hsa-miR-1273g	CLIP-seq
MIRT2002668	hsa-miR-130a	CLIP-seq
MIRT2002669	hsa-miR-130b	CLIP-seq
MIRT1021460	hsa-miR-148a	CLIP-seq
MIRT1021461	hsa-miR-148b	CLIP-seq
MIRT1021462	hsa-miR-152	CLIP-seq
MIRT1021463	hsa-miR-186	CLIP-seq
MIRT1021464	hsa-miR-197	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT2002670	hsa-miR-301a	CLIP-seq
MIRT2002671	hsa-miR-301b	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT2002673	hsa-miR-3163	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT2235659	hsa-miR-3606	CLIP-seq
MIRT2002678	hsa-miR-3666	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021473	hsa-miR-369-3p	CLIP-seq
MIRT1021474	hsa-miR-374c	CLIP-seq
MIRT1021475	hsa-miR-375	CLIP-seq
MIRT2002680	hsa-miR-383	CLIP-seq
MIRT1021476	hsa-miR-3942-5p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2002682	hsa-miR-4295	CLIP-seq
MIRT1021480	hsa-miR-4310	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021482	hsa-miR-4499	CLIP-seq
MIRT1021483	hsa-miR-4504	CLIP-seq
MIRT2235660	hsa-miR-4506	CLIP-seq
MIRT1021484	hsa-miR-4513	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT2002684	hsa-miR-454	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT2002686	hsa-miR-4698	CLIP-seq
MIRT1021491	hsa-miR-4703-5p	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT2002688	hsa-miR-4772-5p	CLIP-seq
MIRT1021498	hsa-miR-487a	CLIP-seq
MIRT1021499	hsa-miR-495	CLIP-seq
MIRT2235661	hsa-miR-548aa	CLIP-seq
MIRT2235662	hsa-miR-570	CLIP-seq
MIRT1021500	hsa-miR-587	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT1021504	hsa-miR-655	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT2002674	hsa-miR-3183	CLIP-seq
MIRT2437440	hsa-miR-337-5p	CLIP-seq
MIRT2437441	hsa-miR-4469	CLIP-seq
MIRT2002687	hsa-miR-4723-3p	CLIP-seq
MIRT2002695	hsa-miR-642a	CLIP-seq
MIRT2002696	hsa-miR-767-3p	CLIP-seq
MIRT2437442	hsa-miR-887	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT2539592	hsa-miR-1205	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT2539593	hsa-miR-3145-5p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2539594	hsa-miR-4418	CLIP-seq
MIRT2002689	hsa-miR-500a	CLIP-seq
MIRT2539595	hsa-miR-509-3-5p	CLIP-seq
MIRT2539596	hsa-miR-509-5p	CLIP-seq
MIRT2002693	hsa-miR-600	CLIP-seq
MIRT2539592	hsa-miR-1205	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT2539593	hsa-miR-3145-5p	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2539594	hsa-miR-4418	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT2002689	hsa-miR-500a	CLIP-seq
MIRT2539595	hsa-miR-509-3-5p	CLIP-seq
MIRT2539596	hsa-miR-509-5p	CLIP-seq
MIRT2002693	hsa-miR-600	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq

Show/Hide all(17)

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
GO:0005759	Component	Mitochondrial matrix	IDA	20364084
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0015035	Function	Protein disulfide oxidoreductase activity	IEA
GO:0030097	Process	Hemopoiesis	ISS
GO:0030425	Component	Dendrite	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0044281	Process	Small molecule metabolic process	TAS
GO:0044571	Process	[2Fe-2S] cluster assembly	IGI	23615440
GO:0046872	Function	Metal ion binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0106034	Process	Protein maturation by [2Fe-2S] cluster transfer	IGI	23615440
GO:0106035	Process	Protein maturation by [4Fe-4S] cluster transfer	IGI	23615440

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
TPEQPQCGFSNAVVQILRLHGVRDYAAYNVLDDPELRQGIKDYSNWPTIPQVYLNGEFVG
GCDILLQMHQNGDLVEELKKLGIHSALLDEKKDQDSK

Sequence length

157

Interactions

View interactions

	Reactome
			Mitochondrial iron-sulfur cluster biogenesis

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
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
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604 View all (6 more)
Spastic diplegia	Little`s Disease	rs672601336
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Sideroblastic anemia	Sideroblastic anemia, Adult-onset autosomal recessive sideroblastic anemia	rs763817505	18637800
Spastic ataxia	Spastic Ataxia	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120 View all (280 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Sideroblastic Anemia	sideroblastic anemia 3			GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Iron Deficiencies	Associate	20364084
Iron Overload	Associate	17485548, 20364084
Leukoencephalopathies	Associate	34732213
Mental Disorders	Associate	34732213
Movement Disorders	Associate	34732213
Neurologic Manifestations	Associate	34732213
Optic Atrophy	Associate	24334290
Paraparesis Spastic	Associate	34732213
Paraplegia	Associate	24334290
Polyneuropathies	Associate	34732213
Spinal Diseases	Associate	24334290

GLRX5 (glutaredoxin 5)