Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GPX5 | Human | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GPX5 | Human | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
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 |
PMID:1386734 | PMID:9110319 | PMID:9501919 | PMID:9639555 | PMID:9783843 | PMID:10652368 | PMID:11076863 | PMID:11368344 | PMID:12211066 | PMID:12477932 | PMID:14574404 | PMID:14702039 |
PMID:15910762 | PMID:16344560 | PMID:19913121 | PMID:20200426 | PMID:20628086 | PMID:21873635 | PMID:23728617 |
GPX5 (Homo sapiens - human) |
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Gpx5 (Mus musculus - house mouse) |
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Gpx5 (Rattus norvegicus - Norway rat) |
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GPX5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GPX5 (Canis lupus familiaris - dog) |
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Gpx5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GPX5 (Sus scrofa - pig) |
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GPX5 (Chlorocebus sabaeus - green monkey) |
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Variants in GPX5
19 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] | Chr6:18120520..30767516 [GRCh38] Chr6:18120751..30735293 [GRCh37] Chr6:18228730..30843272 [NCBI36] Chr6:6p22.3-21.33 |
pathogenic |
NM_001509.2(GPX5):c.259G>A (p.Glu87Lys) | single nucleotide variant | Malignant melanoma [RCV000061374] | Chr6:28531795 [GRCh38] Chr6:28499572 [GRCh37] Chr6:28607551 [NCBI36] Chr6:6p22.1 |
not provided |
NM_001509.3(GPX5):c.28C>T (p.Leu10=) | single nucleotide variant | not provided [RCV000122494] | Chr6:28526041 [GRCh38] Chr6:28493818 [GRCh37] Chr6:6p22.1 |
uncertain significance |
GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3 | copy number gain | See cases [RCV000133692] | Chr6:26280579..28727313 [GRCh38] Chr6:26280807..28695090 [GRCh37] Chr6:26388786..28803069 [NCBI36] Chr6:6p22.2-22.1 |
uncertain significance |
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 | copy number gain | See cases [RCV000138956] | Chr6:3224310..30657190 [GRCh38] Chr6:3224544..30624967 [GRCh37] Chr6:3169543..30732946 [NCBI36] Chr6:6p25.2-21.33 |
pathogenic |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 | copy number gain | not provided [RCV000745592] | Chr6:28130359..32108367 [GRCh37] Chr6:6p22.1-21.32 |
uncertain significance |
GRCh37/hg19 6p22.1(chr6:28483150-28522695)x1 | copy number loss | not provided [RCV000745594] | Chr6:28483150..28522695 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:28486822-28497769)x1 | copy number loss | not provided [RCV000745595] | Chr6:28486822..28497769 [GRCh37] Chr6:6p22.1 |
benign |
NC_000006.11:g.28005012_31683185del | deletion | Megacolon [RCV001290055] | Chr6:28005012..31683185 [GRCh37] Chr6:6p22.1-21.33 |
likely pathogenic |
NM_001509.3(GPX5):c.367C>T (p.Arg123Cys) | single nucleotide variant | not specified [RCV004141571] | Chr6:28532328 [GRCh38] Chr6:28500105 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.344T>A (p.Ile115Asn) | single nucleotide variant | not specified [RCV004089464] | Chr6:28531880 [GRCh38] Chr6:28499657 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.275A>G (p.Tyr92Cys) | single nucleotide variant | not specified [RCV004077291] | Chr6:28531811 [GRCh38] Chr6:28499588 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.94T>G (p.Cys32Gly) | single nucleotide variant | not specified [RCV004150700] | Chr6:28529457 [GRCh38] Chr6:28497234 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.217T>C (p.Cys73Arg) | single nucleotide variant | not specified [RCV004279515] | Chr6:28529580 [GRCh38] Chr6:28497357 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.481G>A (p.Glu161Lys) | single nucleotide variant | not specified [RCV004278142] | Chr6:28533982 [GRCh38] Chr6:28501759 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.208G>A (p.Ala70Thr) | single nucleotide variant | not specified [RCV004250413] | Chr6:28529571 [GRCh38] Chr6:28497348 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.236A>C (p.Tyr79Ser) | single nucleotide variant | not specified [RCV004366085] | Chr6:28529599 [GRCh38] Chr6:28497376 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.274T>G (p.Tyr92Asp) | single nucleotide variant | not specified [RCV004393524] | Chr6:28531810 [GRCh38] Chr6:28499587 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.445T>C (p.Phe149Leu) | single nucleotide variant | not specified [RCV004393525] | Chr6:28532406 [GRCh38] Chr6:28500183 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.601C>T (p.Arg201Trp) | single nucleotide variant | not specified [RCV004393527] | Chr6:28534102 [GRCh38] Chr6:28501879 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.638C>A (p.Ala213Glu) | single nucleotide variant | not specified [RCV004393528] | Chr6:28534139 [GRCh38] Chr6:28501916 [GRCh37] Chr6:6p22.1 |
likely benign |
NM_001509.3(GPX5):c.220G>T (p.Gly74Cys) | single nucleotide variant | not specified [RCV004393523] | Chr6:28529583 [GRCh38] Chr6:28497360 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.18G>C (p.Arg6Ser) | single nucleotide variant | not specified [RCV004393522] | Chr6:28526031 [GRCh38] Chr6:28493808 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.466T>C (p.Cys156Arg) | single nucleotide variant | not specified [RCV004393526] | Chr6:28533967 [GRCh38] Chr6:28501744 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_001509.3(GPX5):c.301T>G (p.Cys101Gly) | single nucleotide variant | not specified [RCV004624017] | Chr6:28531837 [GRCh38] Chr6:28499614 [GRCh37] Chr6:6p22.1 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
G66704 |
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G66705 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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54 | 142 | 161 | 103 | 903 | 186 | 306 | 1 | 61 | 77 | 55 | 186 | 527 | 445 | 2 | 768 | 166 | 661 | 124 | 6 |
Ensembl Acc Id: | ENST00000412168 ⟹ ENSP00000392398 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000442674 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000469384 ⟹ ENSP00000419935 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000483784 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001509 ⟹ NP_001500 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_003996 ⟹ NP_003987 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_144470 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_001500 ⟸ NM_001509 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | A1A4Y0 (UniProtKB/Swiss-Prot), O75715 (UniProtKB/Swiss-Prot), V9HWN8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_003987 ⟸ NM_003996 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | O75715 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000392398 ⟸ ENST00000412168 |
Ensembl Acc Id: | ENSP00000419935 ⟸ ENST00000469384 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O75715-F1-model_v2 | AlphaFold | O75715 | 1-221 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4557 | AgrOrtholog |
COSMIC | GPX5 | COSMIC |
Ensembl Genes | ENSG00000224586 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000257770 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000412168 | ENTREZGENE |
ENST00000412168.7 | UniProtKB/Swiss-Prot | |
ENST00000469384 | ENTREZGENE | |
ENST00000469384.1 | UniProtKB/Swiss-Prot | |
ENST00000550775.5 | UniProtKB/Swiss-Prot | |
ENST00000551639.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Glutaredoxin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000224586 | GTEx |
ENSG00000257770 | GTEx | |
HGNC ID | HGNC:4557 | ENTREZGENE |
Human Proteome Map | GPX5 | Human Proteome Map |
InterPro | Glutathione_peroxidase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GPX_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPX_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Thioredoxin-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2880 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 2880 | ENTREZGENE |
OMIM | 603435 | OMIM |
PANTHER | EPIDIDYMAL SECRETORY GLUTATHIONE PEROXIDASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11592 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | GSHPx | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA28953 | PharmGKB |
PIRSF | Glutathion_perox | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | GLUTPROXDASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | GLUTATHIONE_PEROXID_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GLUTATHIONE_PEROXID_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GLUTATHIONE_PEROXID_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROKAR_LIPOPROTEIN | UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF52833 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A1A4Y0 | ENTREZGENE |
GPX5_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
V9HWN8 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | A1A4Y0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2014-10-01 | GPX5 | glutathione peroxidase 5 | GPX5 | glutathione peroxidase 5 (epididymal androgen-related protein) | Symbol and/or name change | 5135510 | APPROVED |