GLRX5 (glutaredoxin 5) - Rat Genome Database

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Gene: GLRX5 (glutaredoxin 5) Homo sapiens
Analyze
Symbol: GLRX5
Name: glutaredoxin 5
RGD ID: 1318119
HGNC Page HGNC:20134
Description: Predicted to enable 2 iron, 2 sulfur cluster binding activity and metal ion binding activity. Involved in [2Fe-2S] cluster assembly; protein maturation by [2Fe-2S] cluster transfer; and protein maturation by [4Fe-4S] cluster transfer. Located in mitochondrial matrix. Part of iron-sulfur cluster assembly complex. Implicated in autosomal recessive pyridoxine-refractory sideroblastic anemia 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C14orf87; chromosome 14 open reading frame 87; FLB4739; glutaredoxin 5 homolog; glutaredoxin-related protein 5, mitochondrial; GRX5; MGC14129; monothiol glutaredoxin-5; PR01238; PRO1238; PRSA; SIDBA3; SPAHGC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: GLRX5P1   GLRX5P2   GLRX5P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381495,535,050 - 95,544,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1495,533,503 - 95,544,724 (+)EnsemblGRCh38hg38GRCh38
GRCh371496,001,387 - 96,011,051 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361495,071,076 - 95,080,808 (+)NCBINCBI36Build 36hg18NCBI36
Build 341495,071,075 - 95,080,808NCBI
Celera1476,057,010 - 76,066,743 (+)NCBICelera
Cytogenetic Map14q32.13NCBI
HuRef1476,186,979 - 76,196,711 (+)NCBIHuRef
CHM1_11495,939,246 - 95,948,981 (+)NCBICHM1_1
T2T-CHM13v2.01489,765,742 - 89,775,402 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
dendrite  (IEA,ISO)
iron-sulfur cluster assembly complex  (IPI)
mitochondrial matrix  (IBA,IDA,IEA,TAS)
mitochondrion  (HTP,IDA,IEA,ISS,NAS)
neuronal cell body  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pyramidal sign  (IAGP)
Anemia  (IAGP)
Anisocytosis  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cirrhosis  (IAGP)
Cognitive impairment  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Decreased activity of the pyruvate dehydrogenase complex  (IAGP)
Decreased mean corpuscular volume  (IAGP)
Developmental regression  (IAGP)
Dysarthria  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated hepatic iron concentration  (IAGP)
Erythroid hyperplasia  (IAGP)
Feeding difficulties  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperglycinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypochromia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased CSF glycine concentration  (IAGP)
Increased CSF lactate  (IAGP)
Irritability  (IAGP)
Jaundice  (IAGP)
Left ventricular hypertrophy  (IAGP)
Leukodystrophy  (IAGP)
Loss of ability to walk in early childhood  (IAGP)
Myoclonus  (IAGP)
Nonketotic hyperglycinemia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Progressive spasticity  (IAGP)
Reduced tissue glycine cleavage enzyme activity  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Spastic ataxia  (IAGP)
Spastic diplegia  (IAGP)
Spastic dysarthria  (IAGP)
Spasticity  (IAGP)
Spinal cord lesion  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Type II diabetes mellitus  (IAGP)
Unsteady gait  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9325327   PMID:12477932   PMID:15489334   PMID:16110529   PMID:17485548   PMID:18029348   PMID:19731322   PMID:20364084   PMID:20379614   PMID:20877624   PMID:21029046   PMID:21832049  
PMID:21873635   PMID:21988832   PMID:22746225   PMID:23251661   PMID:23615440   PMID:24334290   PMID:24529757   PMID:24606901   PMID:26344197   PMID:27499296   PMID:27519415   PMID:27532772  
PMID:27532773   PMID:27893590   PMID:28380382   PMID:29568061   PMID:30137089   PMID:30463901   PMID:31056398   PMID:31536960   PMID:31617661   PMID:31724821   PMID:32296183   PMID:32542995  
PMID:32628020   PMID:33499712   PMID:33961781   PMID:34063696   PMID:34079125   PMID:34349018   PMID:34373451   PMID:34732213   PMID:34800366   PMID:35831314   PMID:35941108  


Genomics

Comparative Map Data
GLRX5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381495,535,050 - 95,544,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1495,533,503 - 95,544,724 (+)EnsemblGRCh38hg38GRCh38
GRCh371496,001,387 - 96,011,051 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361495,071,076 - 95,080,808 (+)NCBINCBI36Build 36hg18NCBI36
Build 341495,071,075 - 95,080,808NCBI
Celera1476,057,010 - 76,066,743 (+)NCBICelera
Cytogenetic Map14q32.13NCBI
HuRef1476,186,979 - 76,196,711 (+)NCBIHuRef
CHM1_11495,939,246 - 95,948,981 (+)NCBICHM1_1
T2T-CHM13v2.01489,765,742 - 89,775,402 (+)NCBIT2T-CHM13v2.0
Glrx5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912104,998,877 - 105,007,170 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12104,998,947 - 105,009,165 (+)EnsemblGRCm39 Ensembl
GRCm3812105,032,618 - 105,040,911 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12105,032,688 - 105,042,906 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712106,270,899 - 106,279,120 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612105,433,739 - 105,441,960 (+)NCBIMGSCv36mm8
Celera12106,265,134 - 106,273,355 (+)NCBICelera
Cytogenetic Map12ENCBI
cM Map1255.04NCBI
Glrx5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86129,752,902 - 129,763,278 (+)NCBIGRCr8
mRatBN7.26123,988,461 - 123,998,545 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6123,988,134 - 123,998,545 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6124,118,169 - 124,128,237 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06124,413,421 - 124,423,489 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06123,785,337 - 123,795,417 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06128,750,503 - 128,760,880 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6128,750,795 - 128,760,880 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06137,947,583 - 137,957,960 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46129,233,209 - 129,243,293 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16129,236,842 - 129,245,795 (+)NCBI
Celera6121,459,083 - 121,469,162 (+)NCBICelera
Cytogenetic Map6q32NCBI
Glrx5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543817,066,955 - 17,075,789 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543817,067,017 - 17,076,162 (-)NCBIChiLan1.0ChiLan1.0
GLRX5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21596,688,753 - 96,698,490 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11495,905,267 - 95,914,996 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01476,162,541 - 76,172,291 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11495,486,818 - 95,496,438 (+)NCBIpanpan1.1PanPan1.1panPan2
GLRX5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1864,383,203 - 64,392,886 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl864,383,227 - 64,383,841 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha863,961,948 - 63,972,042 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0864,651,949 - 64,662,047 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl864,652,309 - 64,662,049 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1864,326,648 - 64,336,722 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0864,385,664 - 64,395,761 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0864,710,831 - 64,720,934 (+)NCBIUU_Cfam_GSD_1.0
GLRX5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7116,787,432 - 116,800,554 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17116,787,346 - 116,797,477 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27124,001,745 - 124,011,835 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GLRX5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12473,387,941 - 73,398,208 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2473,387,641 - 73,398,233 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605360,564,346 - 60,574,102 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Glrx5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247347,987,116 - 7,995,220 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247347,986,999 - 7,995,604 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GLRX5
85 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) single nucleotide variant Sideroblastic anemia 3 [RCV000001673] Chr14:95535383 [GRCh38]
Chr14:96001720 [GRCh37]
Chr14:14q32.13		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_016417.3(GLRX5):c.129G>C (p.Glu43Asp) single nucleotide variant not provided [RCV000144498] Chr14:95535218 [GRCh38]
Chr14:96001555 [GRCh37]
Chr14:14q32.13		 not provided
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) single nucleotide variant Sideroblastic anemia 3 [RCV000210075] Chr14:95544094 [GRCh38]
Chr14:96010431 [GRCh37]
Chr14:14q32.13		 pathogenic
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) single nucleotide variant Sideroblastic anemia 3 [RCV000210158] Chr14:95543952 [GRCh38]
Chr14:96010289 [GRCh37]
Chr14:14q32.13		 pathogenic
NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del) microsatellite Spasticity-ataxia-gait anomalies syndrome [RCV000210133] Chr14:95535236..95535238 [GRCh38]
Chr14:96001573..96001575 [GRCh37]
Chr14:14q32.13		 pathogenic
NM_016417.3(GLRX5):c.86_93dup (p.Ala32fs) duplication Spasticity-ataxia-gait anomalies syndrome [RCV000210190] Chr14:95535168..95535169 [GRCh38]
Chr14:96001505..96001506 [GRCh37]
Chr14:14q32.13		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_016417.3(GLRX5):c.81G>C (p.Pro27=) single nucleotide variant not specified [RCV000417935] Chr14:95535170 [GRCh38]
Chr14:96001507 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.*5G>A single nucleotide variant not provided [RCV001712227] Chr14:95544130 [GRCh38]
Chr14:96010467 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.240C>T (p.His80=) single nucleotide variant not provided [RCV000894039]|not specified [RCV000438584] Chr14:95535329 [GRCh38]
Chr14:96001666 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.198G>A (p.Gln66=) single nucleotide variant not provided [RCV000894038]|not specified [RCV000428387] Chr14:95535287 [GRCh38]
Chr14:96001624 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.-9C>T single nucleotide variant not specified [RCV000442681] Chr14:95535081 [GRCh38]
Chr14:96001418 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.435C>T (p.Ser145=) single nucleotide variant not provided [RCV002062295]|not specified [RCV000433309] Chr14:95544086 [GRCh38]
Chr14:96010423 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.204C>T (p.Gly68=) single nucleotide variant not provided [RCV000957416]|not specified [RCV000430209] Chr14:95535293 [GRCh38]
Chr14:96001630 [GRCh37]
Chr14:14q32.13		 benign|likely benign
NM_016417.3(GLRX5):c.-16C>T single nucleotide variant not specified [RCV000433574] Chr14:95535074 [GRCh38]
Chr14:96001411 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.2(GLRX5):c.-44A>C single nucleotide variant not specified [RCV000444387] Chr14:95535046 [GRCh38]
Chr14:96001383 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.436G>A (p.Ala146Thr) single nucleotide variant not provided [RCV001518951]|not specified [RCV000426977] Chr14:95544087 [GRCh38]
Chr14:96010424 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.-17C>A single nucleotide variant not specified [RCV000430678] Chr14:95535073 [GRCh38]
Chr14:96001410 [GRCh37]
Chr14:14q32.13		 benign|likely benign
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3 copy number gain See cases [RCV000511246] Chr14:93498930..96059698 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_016417.3(GLRX5):c.242G>A (p.Gly81Asp) single nucleotide variant not specified [RCV004295576] Chr14:95535331 [GRCh38]
Chr14:96001668 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.330G>A (p.Pro110=) single nucleotide variant not provided [RCV000978404] Chr14:95543981 [GRCh38]
Chr14:96010318 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.405G>C (p.Val135=) single nucleotide variant not provided [RCV000915668] Chr14:95544056 [GRCh38]
Chr14:96010393 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.306C>T (p.Asp102=) single nucleotide variant not provided [RCV000841528] Chr14:95543957 [GRCh38]
Chr14:96010294 [GRCh37]
Chr14:14q32.13		 benign|likely benign
NM_016417.2(GLRX5):c.-277T>A single nucleotide variant not provided [RCV000833033] Chr14:95534813 [GRCh38]
Chr14:96001150 [GRCh37]
Chr14:14q32.13		 likely benign
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
NM_016417.3(GLRX5):c.295+311A>G single nucleotide variant not provided [RCV000844200] Chr14:95535695 [GRCh38]
Chr14:96002032 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.295+230C>T single nucleotide variant not provided [RCV000831861] Chr14:95535614 [GRCh38]
Chr14:96001951 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.*4C>T single nucleotide variant GLRX5-related disorder [RCV003921225]|not provided [RCV001565687] Chr14:95544129 [GRCh38]
Chr14:96010466 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.*127G>A single nucleotide variant not provided [RCV001716209] Chr14:95544252 [GRCh38]
Chr14:96010589 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.185C>T (p.Pro62Leu) single nucleotide variant not provided [RCV000888467]|not specified [RCV004028375] Chr14:95535274 [GRCh38]
Chr14:96001611 [GRCh37]
Chr14:14q32.13		 likely benign|uncertain significance
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) single nucleotide variant Sideroblastic anemia 3 [RCV001171376] Chr14:95535289 [GRCh38]
Chr14:96001626 [GRCh37]
Chr14:14q32.13		 pathogenic
NM_016417.3(GLRX5):c.296-5C>T single nucleotide variant not provided [RCV000933673] Chr14:95543942 [GRCh38]
Chr14:96010279 [GRCh37]
Chr14:14q32.13		 likely benign
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_016417.3(GLRX5):c.115G>A (p.Gly39Ser) single nucleotide variant Spasticity-ataxia-gait anomalies syndrome [RCV002472243]|not provided [RCV002571482] Chr14:95535204 [GRCh38]
Chr14:96001541 [GRCh37]
Chr14:14q32.13		 uncertain significance
NC_000014.9:g.95534887A>C single nucleotide variant not provided [RCV001530620] Chr14:95534887 [GRCh38]
Chr14:96001224 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.296-271_296-270dup duplication not provided [RCV001660968] Chr14:95543666..95543667 [GRCh38]
Chr14:96010003..96010004 [GRCh37]
Chr14:14q32.13		 benign
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
NR_001459.2(SNHG10):n.39C>T single nucleotide variant not provided [RCV001652800] Chr14:95534834 [GRCh38]
Chr14:96001171 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.*192T>C single nucleotide variant not provided [RCV001548670] Chr14:95544317 [GRCh38]
Chr14:96010654 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.296-270dup duplication not provided [RCV001611856] Chr14:95543666..95543667 [GRCh38]
Chr14:96010003..96010004 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys) single nucleotide variant Sideroblastic anemia 3 [RCV001171377] Chr14:95544034 [GRCh38]
Chr14:96010371 [GRCh37]
Chr14:14q32.13		 pathogenic
NM_016417.3(GLRX5):c.154G>A (p.Asp52Asn) single nucleotide variant not provided [RCV001342230]|not specified [RCV004035988] Chr14:95535243 [GRCh38]
Chr14:96001580 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) single nucleotide variant Sideroblastic anemia 3 [RCV001330934]|not provided [RCV003319465] Chr14:95543965 [GRCh38]
Chr14:96010302 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) single nucleotide variant Sideroblastic anemia 3 [RCV001330935] Chr14:95543973 [GRCh38]
Chr14:96010310 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.296-272_296-270dup duplication not provided [RCV001545619] Chr14:95543666..95543667 [GRCh38]
Chr14:96010003..96010004 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.*16C>T single nucleotide variant not provided [RCV001536911] Chr14:95544141 [GRCh38]
Chr14:96010478 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.296-81A>G single nucleotide variant not provided [RCV001786684] Chr14:95543866 [GRCh38]
Chr14:96010203 [GRCh37]
Chr14:14q32.13		 likely benign
NC_000014.8:g.(?_96001427)_(96010462_?)dup duplication not provided [RCV002007125] Chr14:96001427..96010462 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.197A>C (p.Gln66Pro) single nucleotide variant Spasticity-ataxia-gait anomalies syndrome [RCV001844352] Chr14:95535286 [GRCh38]
Chr14:96001623 [GRCh37]
Chr14:14q32.13		 pathogenic
GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1 copy number loss not provided [RCV001827727] Chr14:95871795..102457523 [GRCh37]
Chr14:14q32.13-32.31		 pathogenic
NM_016417.3(GLRX5):c.395G>A (p.Gly132Glu) single nucleotide variant not provided [RCV001892672] Chr14:95544046 [GRCh38]
Chr14:96010383 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218) copy number gain not specified [RCV002052453] Chr14:94400492..96192218 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
NM_016417.3(GLRX5):c.20G>A (p.Arg7Gln) single nucleotide variant not provided [RCV001977544] Chr14:95535109 [GRCh38]
Chr14:96001446 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.32C>T (p.Ala11Val) single nucleotide variant not provided [RCV001904936] Chr14:95535121 [GRCh38]
Chr14:96001458 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.340C>T (p.Leu114Phe) single nucleotide variant not provided [RCV002011394] Chr14:95543991 [GRCh38]
Chr14:96010328 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.109GGC[5] (p.Gly40dup) microsatellite not provided [RCV001881524] Chr14:95535197..95535198 [GRCh38]
Chr14:96001534..96001535 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.14T>C (p.Leu5Pro) single nucleotide variant not provided [RCV002124683] Chr14:95535103 [GRCh38]
Chr14:96001440 [GRCh37]
Chr14:14q32.13		 benign
NM_016417.3(GLRX5):c.216C>T (p.Ala72=) single nucleotide variant not provided [RCV002186645] Chr14:95535305 [GRCh38]
Chr14:96001642 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.84C>G (p.Gly28=) single nucleotide variant not provided [RCV002086230] Chr14:95535173 [GRCh38]
Chr14:96001510 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.295+13T>G single nucleotide variant not provided [RCV002138086] Chr14:95535397 [GRCh38]
Chr14:96001734 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.295+17G>A single nucleotide variant not provided [RCV002178516] Chr14:95535401 [GRCh38]
Chr14:96001738 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.15C>T (p.Leu5=) single nucleotide variant not provided [RCV002216659] Chr14:95535104 [GRCh38]
Chr14:96001441 [GRCh37]
Chr14:14q32.13		 likely benign
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2		 uncertain significance
NC_000014.8:g.(?_95080779)_(97347545_?)dup duplication not provided [RCV003113847] Chr14:95080779..97347545 [GRCh37]
Chr14:14q32.13-32.2		 uncertain significance
NM_016417.3(GLRX5):c.259G>T (p.Ala87Ser) single nucleotide variant not provided [RCV003112268] Chr14:95535348 [GRCh38]
Chr14:96001685 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_016417.3(GLRX5):c.68G>A (p.Gly23Asp) single nucleotide variant not specified [RCV004328974] Chr14:95535157 [GRCh38]
Chr14:96001494 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2		 likely pathogenic
NM_016417.3(GLRX5):c.295+18G>A single nucleotide variant not provided [RCV002771283] Chr14:95535402 [GRCh38]
Chr14:96001739 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.25G>A (p.Ala9Thr) single nucleotide variant not provided [RCV002625963]|not specified [RCV004065844] Chr14:95535114 [GRCh38]
Chr14:96001451 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.82G>C (p.Gly28Arg) single nucleotide variant not provided [RCV003016776] Chr14:95535171 [GRCh38]
Chr14:96001508 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.88C>T (p.Arg30Trp) single nucleotide variant not provided [RCV003076163]|not specified [RCV004634170] Chr14:95535177 [GRCh38]
Chr14:96001514 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.16_17delinsCT (p.Gly6Leu) indel not provided [RCV002839277] Chr14:95535105..95535106 [GRCh38]
Chr14:96001442..96001443 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.348C>T (p.Gly116=) single nucleotide variant not provided [RCV002996094] Chr14:95543999 [GRCh38]
Chr14:96010336 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.207C>T (p.Phe69=) single nucleotide variant not provided [RCV002730349] Chr14:95535296 [GRCh38]
Chr14:96001633 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.41G>T (p.Arg14Leu) single nucleotide variant not provided [RCV002612508]|not specified [RCV004070696] Chr14:95535130 [GRCh38]
Chr14:96001467 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.315C>T (p.Asn105=) single nucleotide variant not provided [RCV002735627] Chr14:95543966 [GRCh38]
Chr14:96010303 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.202G>A (p.Gly68Ser) single nucleotide variant not specified [RCV004119245] Chr14:95535291 [GRCh38]
Chr14:96001628 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.60C>T (p.Gly20=) single nucleotide variant not provided [RCV002829540] Chr14:95535149 [GRCh38]
Chr14:96001486 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.142C>T (p.Leu48=) single nucleotide variant not provided [RCV002872485] Chr14:95535231 [GRCh38]
Chr14:96001568 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.79C>A (p.Pro27Thr) single nucleotide variant not provided [RCV003005715] Chr14:95535168 [GRCh38]
Chr14:96001505 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.251A>G (p.Asp84Gly) single nucleotide variant not specified [RCV004162754] Chr14:95535340 [GRCh38]
Chr14:96001677 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.344A>G (p.Asn115Ser) single nucleotide variant not provided [RCV002602291] Chr14:95543995 [GRCh38]
Chr14:96010332 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.381G>C (p.Gln127His) single nucleotide variant not provided [RCV002937710] Chr14:95544032 [GRCh38]
Chr14:96010369 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.72T>C (p.Leu24=) single nucleotide variant not provided [RCV002646606] Chr14:95535161 [GRCh38]
Chr14:96001498 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.141G>T (p.Ala47=) single nucleotide variant not provided [RCV002856687] Chr14:95535230 [GRCh38]
Chr14:96001567 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.329C>T (p.Pro110Leu) single nucleotide variant not provided [RCV002605679]|not specified [RCV004066595] Chr14:95543980 [GRCh38]
Chr14:96010317 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.178G>A (p.Gly60Arg) single nucleotide variant not provided [RCV003027814] Chr14:95535267 [GRCh38]
Chr14:96001604 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.63C>T (p.Gly21=) single nucleotide variant not provided [RCV003008944] Chr14:95535152 [GRCh38]
Chr14:96001489 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.101C>T (p.Ser34Leu) single nucleotide variant not provided [RCV002717345] Chr14:95535190 [GRCh38]
Chr14:96001527 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.66T>C (p.Gly22=) single nucleotide variant not provided [RCV002658058] Chr14:95535155 [GRCh38]
Chr14:96001492 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.59G>A (p.Gly20Asp) single nucleotide variant not provided [RCV002605364] Chr14:95535148 [GRCh38]
Chr14:96001485 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.425G>A (p.Gly142Glu) single nucleotide variant not provided [RCV003135393] Chr14:95544076 [GRCh38]
Chr14:96010413 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.223C>G (p.Gln75Glu) single nucleotide variant not specified [RCV004350494] Chr14:95535312 [GRCh38]
Chr14:96001649 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.96G>A (p.Ala32=) single nucleotide variant not provided [RCV003393593] Chr14:95535185 [GRCh38]
Chr14:96001522 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.145G>A (p.Val49Met) single nucleotide variant not specified [RCV004346966] Chr14:95535234 [GRCh38]
Chr14:96001571 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_016417.3(GLRX5):c.-6G>A single nucleotide variant GLRX5-related disorder [RCV003946630]|not provided [RCV003441314] Chr14:95535084 [GRCh38]
Chr14:96001421 [GRCh37]
Chr14:14q32.13		 likely benign|uncertain significance
NM_016417.3(GLRX5):c.195C>T (p.Pro65=) single nucleotide variant not provided [RCV003813723] Chr14:95535284 [GRCh38]
Chr14:96001621 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.108G>T (p.Ala36=) single nucleotide variant not provided [RCV003725149] Chr14:95535197 [GRCh38]
Chr14:96001534 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.84C>T (p.Gly28=) single nucleotide variant not provided [RCV003838888] Chr14:95535173 [GRCh38]
Chr14:96001510 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.228C>T (p.Ile76=) single nucleotide variant not provided [RCV003553164] Chr14:95535317 [GRCh38]
Chr14:96001654 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.219G>A (p.Val73=) single nucleotide variant not provided [RCV003734124] Chr14:95535308 [GRCh38]
Chr14:96001645 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.9G>T (p.Gly3=) single nucleotide variant not provided [RCV003732473] Chr14:95535098 [GRCh38]
Chr14:96001435 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.429C>A (p.Ile143=) single nucleotide variant not provided [RCV003824394] Chr14:95544080 [GRCh38]
Chr14:96010417 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.216C>G (p.Ala72=) single nucleotide variant not provided [RCV003854245] Chr14:95535305 [GRCh38]
Chr14:96001642 [GRCh37]
Chr14:14q32.13		 likely benign
NM_016417.3(GLRX5):c.187G>A (p.Glu63Lys) single nucleotide variant not provided [RCV003731263] Chr14:95535276 [GRCh38]
Chr14:96001613 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.185C>G (p.Pro62Arg) single nucleotide variant not specified [RCV004393238] Chr14:95535274 [GRCh38]
Chr14:96001611 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.23C>G (p.Ala8Gly) single nucleotide variant not specified [RCV004393239] Chr14:95535112 [GRCh38]
Chr14:96001449 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.466T>C (p.Ser156Pro) single nucleotide variant not specified [RCV004393241] Chr14:95544117 [GRCh38]
Chr14:96010454 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.382A>G (p.Met128Val) single nucleotide variant not specified [RCV004393240] Chr14:95544033 [GRCh38]
Chr14:96010370 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.161T>G (p.Val54Gly) single nucleotide variant not specified [RCV004629769] Chr14:95535250 [GRCh38]
Chr14:96001587 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.247C>A (p.Arg83Ser) single nucleotide variant not specified [RCV004629770] Chr14:95535336 [GRCh38]
Chr14:96001673 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.67G>A (p.Gly23Ser) single nucleotide variant not specified [RCV004629772] Chr14:95535156 [GRCh38]
Chr14:96001493 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_016417.3(GLRX5):c.28G>C (p.Ala10Pro) single nucleotide variant not specified [RCV004629773] Chr14:95535117 [GRCh38]
Chr14:96001454 [GRCh37]
Chr14:14q32.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:872
Count of miRNA genes:480
Interacting mature miRNAs:519
Transcripts:ENST00000331334, ENST00000553672, ENST00000557731
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407199333GWAS848309_Hmean corpuscular volume QTL GWAS848309 (human)8e-21mean corpuscular volumemean corpuscular volume (CMO:0000038)149553686195536862Human
407101283GWAS750259_Hmean corpuscular hemoglobin QTL GWAS750259 (human)5e-35mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)149553686195536862Human
407001728GWAS650704_Hmean corpuscular volume QTL GWAS650704 (human)1e-37mean corpuscular volumemean corpuscular volume (CMO:0000038)149553686195536862Human
407012288GWAS661264_Hmean corpuscular hemoglobin QTL GWAS661264 (human)4e-31mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)149553686195536862Human
407112710GWAS761686_Herythrocyte count QTL GWAS761686 (human)2e-08erythrocyte countred blood cell count (CMO:0000025)149553686195536862Human
406992298GWAS641274_Hmean corpuscular hemoglobin concentration QTL GWAS641274 (human)4e-35mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)149553686195536862Human
407336430GWAS985406_Hmean corpuscular volume QTL GWAS985406 (human)2e-23mean corpuscular volumemean corpuscular volume (CMO:0000038)149553686195536862Human
406970856GWAS619832_Hmean corpuscular volume QTL GWAS619832 (human)2e-10mean corpuscular volumemean corpuscular volume (CMO:0000038)149553686195536862Human
406999375GWAS648351_Hmean corpuscular volume QTL GWAS648351 (human)8e-38mean corpuscular volumemean corpuscular volume (CMO:0000038)149553686195536862Human
407335146GWAS984122_Hmean corpuscular hemoglobin QTL GWAS984122 (human)1e-25mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)149553686195536862Human
407044525GWAS693501_Hmean corpuscular volume QTL GWAS693501 (human)1e-29mean corpuscular volumemean corpuscular volume (CMO:0000038)149553686195536862Human
407028529GWAS677505_Hmetabolic rate measurement QTL GWAS677505 (human)0.000002metabolic rate measurementmetabolic rate (CMO:0003956)149554425295544253Human
407062837GWAS711813_Hred blood cell density measurement QTL GWAS711813 (human)1e-11reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)149553686195536862Human
406976022GWAS624998_Hmean corpuscular hemoglobin QTL GWAS624998 (human)5e-10mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)149553686195536862Human
406992954GWAS641930_Hmean corpuscular hemoglobin concentration QTL GWAS641930 (human)2e-36mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)149553686195536862Human
407066075GWAS715051_Hred blood cell density measurement QTL GWAS715051 (human)4e-12red blood cell density measurement149553686195536862Human
407115674GWAS764650_Hmean corpuscular volume QTL GWAS764650 (human)9e-16mean corpuscular volumemean corpuscular volume (CMO:0000038)149553686195536862Human

Markers in Region
D14S1246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,010,765 - 96,010,993UniSTSGRCh37
Build 361495,080,518 - 95,080,746RGDNCBI36
Celera1476,066,453 - 76,066,681RGD
Cytogenetic Map14q32.13UniSTS
HuRef1476,196,421 - 76,196,649UniSTS
GeneMap99-GB4 RH Map14259.76UniSTS
Whitehead-RH Map14339.2UniSTS
Whitehead-YAC Contig Map14 UniSTS
RH98225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371495,999,440 - 95,999,561UniSTSGRCh37
Build 361495,069,193 - 95,069,314RGDNCBI36
Celera1476,055,128 - 76,055,249RGD
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q32.12UniSTS
GeneMap99-GB4 RH Map14259.66UniSTS
RH93740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371495,999,440 - 95,999,561UniSTSGRCh37
Build 361495,069,193 - 95,069,314RGDNCBI36
Celera1476,055,128 - 76,055,249RGD
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q32.12UniSTS
HuRef1476,185,097 - 76,185,218UniSTS
GeneMap99-GB4 RH Map14259.76UniSTS
D14S660E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,867,296 - 119,867,416UniSTSGRCh37
GRCh371496,010,510 - 96,010,630UniSTSGRCh37
Build 36X119,751,324 - 119,751,444RGDNCBI36
CeleraX120,331,623 - 120,331,743RGD
Celera1476,066,198 - 76,066,318UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic MapXq24UniSTS
HuRefX109,331,776 - 109,331,896UniSTS
HuRef1476,196,166 - 76,196,286UniSTS
SHGC-141988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,009,315 - 96,009,628UniSTSGRCh37
Build 361495,079,068 - 95,079,381RGDNCBI36
Celera1476,064,999 - 76,065,312RGD
Cytogenetic Map14q32.13UniSTS
HuRef1476,194,967 - 76,195,280UniSTS
TNG Radiation Hybrid Map1438298.0UniSTS
RH1627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,010,788 - 96,010,967UniSTSGRCh37
Build 361495,080,541 - 95,080,720RGDNCBI36
Celera1476,066,476 - 76,066,655RGD
Cytogenetic Map14q32.13UniSTS
HuRef1476,196,444 - 76,196,623UniSTS
GeneMap99-GB4 RH Map14255.44UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB223038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI089763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI259789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI834047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS185633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ083331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000331334   ⟹   ENSP00000328570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1495,535,050 - 95,544,714 (+)Ensembl
Ensembl Acc Id: ENST00000553672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1495,533,503 - 95,544,557 (+)Ensembl
Ensembl Acc Id: ENST00000557731   ⟹   ENSP00000451800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1495,535,274 - 95,544,724 (+)Ensembl
RefSeq Acc Id: NM_016417   ⟹   NP_057501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381495,535,050 - 95,544,714 (+)NCBI
GRCh371496,001,323 - 96,011,055 (+)RGD
Build 361495,071,076 - 95,080,808 (+)NCBI Archive
Celera1476,057,010 - 76,066,743 (+)RGD
HuRef1476,186,979 - 76,196,711 (+)ENTREZGENE
CHM1_11495,939,246 - 95,948,981 (+)NCBI
T2T-CHM13v2.01489,765,742 - 89,775,402 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057501   ⟸   NM_016417
- Peptide Label: precursor
- UniProtKB: Q86WY3 (UniProtKB/Swiss-Prot),   Q3YML0 (UniProtKB/Swiss-Prot),   Q0X088 (UniProtKB/Swiss-Prot),   Q8IZ54 (UniProtKB/Swiss-Prot),   Q86SX6 (UniProtKB/Swiss-Prot),   A0A384MDT9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000328570   ⟸   ENST00000331334
Ensembl Acc Id: ENSP00000451800   ⟸   ENST00000557731
Protein Domains
Glutaredoxin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86SX6-F1-model_v2 AlphaFold Q86SX6 1-157 view protein structure

Promoters
RGD ID:6791890
Promoter ID:HG_KWN:20104
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016417,   NR_001459
Position:
Human AssemblyChrPosition (strand)Source
Build 361495,069,291 - 95,071,947 (-)MPROMDB
RGD ID:7228547
Promoter ID:EPDNEW_H20020
Type:initiation region
Name:GLRX5_2
Description:glutaredoxin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20022  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381495,534,672 - 95,534,732EPDNEW
RGD ID:7228555
Promoter ID:EPDNEW_H20022
Type:initiation region
Name:GLRX5_1
Description:glutaredoxin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20020  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381495,535,050 - 95,535,110EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20134 AgrOrtholog
COSMIC GLRX5 COSMIC
Ensembl Genes ENSG00000182512 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331334 ENTREZGENE
  ENST00000331334.5 UniProtKB/Swiss-Prot
  ENST00000557731.1 UniProtKB/TrEMBL
Gene3D-CATH Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182512 GTEx
HGNC ID HGNC:20134 ENTREZGENE
Human Proteome Map GLRX5 Human Proteome Map
InterPro Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRX_PICOT-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Monothiol_GRX-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51218 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51218 ENTREZGENE
OMIM 609588 OMIM
PANTHER GLUTAREDOXIN-RELATED PROTEIN 5, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10293 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134992547 PharmGKB
PROSITE GLUTAREDOXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384MDT9 ENTREZGENE, UniProtKB/TrEMBL
  GLRX5_HUMAN UniProtKB/Swiss-Prot
  H0YJM6_HUMAN UniProtKB/TrEMBL
  Q0X088 ENTREZGENE
  Q3YML0 ENTREZGENE
  Q86SX6 ENTREZGENE
  Q86WY3 ENTREZGENE
  Q8IZ54 ENTREZGENE
  Q9P1N5_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q0X088 UniProtKB/Swiss-Prot
  Q3YML0 UniProtKB/Swiss-Prot
  Q86WY3 UniProtKB/Swiss-Prot
  Q8IZ54 UniProtKB/Swiss-Prot