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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 17beta-estradiol | multiple interactions | EXP | | 6480464 | [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of GGH mRNA | CTD | PMID:19619570 | 17beta-estradiol | increases expression | EXP | | 6480464 | Estradiol results in increased expression of GGH mRNA | CTD | PMID:16474171 more ... | 2,3,7,8-tetrachlorodibenzodioxine | multiple interactions | EXP | | 6480464 | [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of GGH mRNA | CTD | PMID:19619570 | 2,3,7,8-tetrachlorodibenzodioxine | increases expression | EXP | | 6480464 | Tetrachlorodibenzodioxin results in increased expression of GGH mRNA | CTD | PMID:19619570 more ... | 2-methylcholine | affects expression | EXP | | 6480464 | beta-methylcholine affects the expression of GGH mRNA | CTD | PMID:21179406 | 3H-1,2-dithiole-3-thione | decreases expression | ISO | RGD:2682 | 6480464 | 1, 2-dithiol-3-thione results in decreased expression of GGH mRNA | CTD | PMID:19162173 | 5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole | affects expression | ISO | RGD:2682 | 6480464 | Omeprazole affects the expression of GGH mRNA | CTD | PMID:19483382 | 6-propyl-2-thiouracil | affects expression | ISO | RGD:2682 | 6480464 | Propylthiouracil affects the expression of GGH mRNA | CTD | PMID:19483382 | amiodarone | affects expression | ISO | RGD:2682 | 6480464 | Amiodarone affects the expression of GGH mRNA | CTD | PMID:19483382 | ammonium chloride | affects expression | ISO | RGD:2682 | 6480464 | Ammonium Chloride affects the expression of GGH mRNA | CTD | PMID:16483693 | amphetamine | increases expression | ISO | RGD:2682 | 6480464 | Amphetamine results in increased expression of GGH mRNA | CTD | PMID:30779732 | arsenous acid | increases expression | EXP | | 6480464 | Arsenic Trioxide results in increased expression of GGH mRNA | CTD | PMID:25258189 | azathioprine | decreases expression | EXP | | 6480464 | Azathioprine results in decreased expression of GGH mRNA | CTD | PMID:22623647 | benzbromarone | affects expression | ISO | RGD:2682 | 6480464 | Benzbromarone affects the expression of GGH mRNA | CTD | PMID:19483382 | benzo[a]pyrene | increases expression | EXP | | 6480464 | Benzo(a)pyrene results in increased expression of GGH mRNA | CTD | PMID:17879257 | bisphenol A | increases expression | EXP | | 6480464 | bisphenol A results in increased expression of GGH mRNA | CTD | PMID:16474171 | bisphenol A | affects expression | EXP | | 6480464 | bisphenol A affects the expression of GGH mRNA | CTD | PMID:30903817 | bisphenol A | decreases expression | EXP | | 6480464 | bisphenol A results in decreased expression of GGH mRNA | CTD | PMID:29275510 | bisphenol A | affects expression | ISO | RGD:2682 | 6480464 | bisphenol A affects the expression of GGH mRNA | CTD | PMID:25181051 | cadmium dichloride | decreases methylation | ISO | RGD:2682 | 6480464 | Cadmium Chloride results in decreased methylation of GGH promoter | CTD | PMID:22457795 | calcitriol | decreases expression | EXP | | 6480464 | Calcitriol results in decreased expression of GGH mRNA | CTD | PMID:21592394 | calcitriol | multiple interactions | EXP | | 6480464 | [Testosterone co-treated with Calcitriol] results in decreased expression of GGH mRNA | CTD | PMID:21592394 | choline | multiple interactions | ISO | RGD:10636 | 6480464 | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GGH gene | CTD | PMID:20938992 | cisplatin | increases expression | EXP | | 6480464 | Cisplatin results in increased expression of GGH mRNA | CTD | PMID:27594783 | clofibrate | affects expression | ISO | RGD:2682 | 6480464 | Clofibrate affects the expression of GGH mRNA | CTD | PMID:19483382 | copper(II) sulfate | decreases expression | EXP | | 6480464 | Copper Sulfate results in decreased expression of GGH mRNA | CTD | PMID:19549813 | coumestrol | multiple interactions | EXP | | 6480464 | [Coumestrol co-treated with 2 more ... | CTD | PMID:19167446 | coumestrol | increases expression | EXP | | 6480464 | Coumestrol results in increased expression of GGH mRNA | CTD | PMID:19167446 | cyclosporin A | decreases expression | EXP | | 6480464 | Cyclosporine results in decreased expression of GGH mRNA | CTD | PMID:20106945, PMID:25562108 | diarsenic trioxide | increases expression | EXP | | 6480464 | Arsenic Trioxide results in increased expression of GGH mRNA | CTD | PMID:25258189 | dicrotophos | decreases expression | EXP | | 6480464 | dicrotophos results in decreased expression of GGH mRNA | CTD | PMID:28302478 | diuron | increases expression | ISO | RGD:2682 | 6480464 | Diuron results in increased expression of GGH mRNA | CTD | PMID:21551480 | Enterolactone | multiple interactions | EXP | | 6480464 | [Coumestrol co-treated with 2, 3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of GGH mRNA | CTD | PMID:19167446 | enzyme inhibitor | multiple interactions | EXP | | 6480464 | [Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of GGH protein | CTD | PMID:23301498 | folic acid | affects expression | EXP | | 6480464 | Folic Acid affects the expression of GGH mRNA | CTD | PMID:17311948 | folic acid | decreases expression | EXP | | 6480464 | Folic Acid deficiency results in decreased expression of GGH mRNA, Folic Acid deficiency results in decreased expression of GGH protein | CTD | PMID:18499665 | folic acid | multiple interactions | ISO | RGD:10636 | 6480464 | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GGH gene | CTD | PMID:20938992 | folic acid | increases hydrolysis | ISO | RGD:2682 | 6480464 | GGH protein results in increased hydrolysis of Folic Acid | CTD | PMID:17449573 | folic acid | multiple interactions | ISO | RGD:2682 | 6480464 | 4-hydroxymercuribenzoate inhibits the reaction [GGH protein results in increased hydrolysis of Folic Acid] | CTD | PMID:17449573 | genistein | increases expression | EXP | | 6480464 | Genistein results in increased expression of GGH mRNA | CTD | PMID:16474171 | gentamycin | increases expression | ISO | RGD:2682 | 6480464 | Gentamicins results in increased expression of GGH mRNA | CTD | PMID:22061828 | hydrogen peroxide | affects expression | EXP | | 6480464 | Hydrogen Peroxide affects the expression of GGH mRNA | CTD | PMID:21179406 | L-ethionine | affects expression | ISO | RGD:2682 | 6480464 | Ethionine affects the expression of GGH mRNA | CTD | PMID:19483382 | L-methionine | multiple interactions | ISO | RGD:10636 | 6480464 | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GGH gene | CTD | PMID:20938992 | methotrexate | decreases expression | EXP | | 6480464 | Methotrexate results in decreased expression of GGH mRNA | CTD | PMID:23897011 | methotrexate | affects response to substance | EXP | | 6480464 | GGH gene polymorphism affects the susceptibility to Methotrexate | CTD | PMID:21219404 | methylmercury chloride | decreases expression | EXP | | 6480464 | methylmercuric chloride results in decreased expression of GGH mRNA | CTD | PMID:28001369 | mono(2-ethylhexyl) phthalate | decreases expression | ISO | RGD:10636 | 6480464 | mono-(2-ethylhexyl)phthalate results in decreased expression of GGH mRNA | CTD | PMID:22401849 | N-nitrosodimethylamine | increases expression | ISO | RGD:2682 | 6480464 | Dimethylnitrosamine results in increased expression of GGH mRNA | CTD | PMID:25380136 | nefazodone | increases expression | ISO | RGD:2682 | 6480464 | nefazodone results in increased expression of GGH mRNA | CTD | PMID:24136188 | nimesulide | increases expression | ISO | RGD:2682 | 6480464 | nimesulide results in increased expression of GGH mRNA | CTD | PMID:24136188 | omeprazole | affects expression | ISO | RGD:2682 | 6480464 | Omeprazole affects the expression of GGH mRNA | CTD | PMID:19483382 | paracetamol | increases expression | EXP | | 6480464 | Acetaminophen results in increased expression of GGH mRNA | CTD | PMID:22230336 | pemetrexed | affects response to substance | EXP | | 6480464 | GGH protein affects the susceptibility to Pemetrexed | CTD | PMID:17575230 | perfluorooctane-1-sulfonic acid | decreases expression | ISO | RGD:2682 | 6480464 | perfluorooctane sulfonic acid results in decreased expression of GGH mRNA | CTD | PMID:18692542 | perfluorooctane-1-sulfonic acid | decreases expression | EXP | | 6480464 | perfluorooctane sulfonic acid results in decreased expression of GGH mRNA | CTD | PMID:27153767 | phenethyl isothiocyanate | increases expression | ISO | RGD:2682 | 6480464 | phenethyl isothiocyanate results in increased expression of GGH mRNA | CTD | PMID:17616710 | phenobarbital | affects expression | EXP | | 6480464 | Phenobarbital affects the expression of GGH mRNA | CTD | PMID:19159669 | pirinixic acid | affects expression | ISO | RGD:2682 | 6480464 | pirinixic acid affects the expression of GGH mRNA | CTD | PMID:19483382 | platinum | affects response to substance | EXP | | 6480464 | GGH gene polymorphism affects the susceptibility to Platinum | CTD | PMID:18851872 | platinum(0) | affects response to substance | EXP | | 6480464 | GGH gene polymorphism affects the susceptibility to Platinum | CTD | PMID:18851872 | quercetin | increases expression | ISO | RGD:2682 | 6480464 | Quercetin results in increased expression of GGH mRNA | CTD | PMID:26432773 | resveratrol | multiple interactions | EXP | | 6480464 | [Coumestrol co-treated with resveratrol] results in increased expression of GGH mRNA | CTD | PMID:19167446 | silicon dioxide | affects secretion | EXP | | 6480464 | Silicon Dioxide analog affects the secretion of GGH protein | CTD | PMID:25895662 | Soman | decreases expression | ISO | RGD:2682 | 6480464 | Soman results in decreased expression of GGH mRNA | CTD | PMID:19281266 | testosterone | multiple interactions | EXP | | 6480464 | [Testosterone co-treated with Calcitriol] results in decreased expression of GGH mRNA | CTD | PMID:21592394 | testosterone | decreases expression | EXP | | 6480464 | Testosterone results in decreased expression of GGH mRNA | CTD | PMID:21592394 | tetrachloromethane | increases expression | ISO | RGD:10636 | 6480464 | Carbon Tetrachloride results in increased expression of GGH mRNA | CTD | PMID:27339419 | tetrahydropalmatine | increases expression | EXP | | 6480464 | tetrahydropalmatine results in increased expression of GGH protein | CTD | PMID:20109541 | thioacetamide | affects expression | ISO | RGD:2682 | 6480464 | Thioacetamide affects the expression of GGH mRNA | CTD | PMID:19483382 | tris(2-butoxyethyl) phosphate | affects expression | EXP | | 6480464 | tris(2-butoxyethyl) phosphate affects the expression of GGH mRNA | CTD | PMID:29024780 | tunicamycin | decreases expression | EXP | | 6480464 | Tunicamycin results in decreased expression of GGH mRNA | CTD | PMID:22378314 | valdecoxib | increases expression | ISO | RGD:2682 | 6480464 | valdecoxib results in increased expression of GGH mRNA | CTD | PMID:24136188 | valproic acid | affects expression | EXP | | 6480464 | Valproic Acid affects the expression of GGH mRNA | CTD | PMID:25979313 | valproic acid | increases expression | EXP | | 6480464 | Valproic Acid results in increased expression of GGH mRNA | CTD | PMID:23179753, PMID:27188386 | vorinostat | increases expression | EXP | | 6480464 | vorinostat results in increased expression of GGH mRNA | CTD | PMID:27188386 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | KEGG |
3. | Pipeline to import KEGG annotations from KEGG into RGD |
4. | Pipeline to import SMPDB annotations from SMPDB into RGD |
5. | RGD automated import pipeline for gene-chemical interactions |
6. | Schneider E and Ryan TJ, Clin Chim Acta. 2006 Dec;374(1-2):25-32. Epub 2006 Jun 10. |
7. | Yao R, etal., J Biol Chem 1996 Apr 12;271(15):8525-8. |
PubMed | 1713122 2867095 3759978 8816764 9614206 10570974 10598552 11005824 11953431 12477932 12643545 15489334 15492986 16141796 16875718 16945597 17009228 17081065 17286537 17409534 18414409 18676680 18830263 18842806 18851872 19016697 19056867 19093297 19161160 19170196 19307503 19625176 19636555 19692168 19774638 19815704 19827168 19841321 19858780 20037791 20197200 20453000 20651609 21145461 21538980 21630459 21674799 21873635 22018726 22119785 22268729 22568793 22649255 22678806 22763757 22863883 22939629 22990118 22994778 23107767 23374458 23376485 23533145 24447348 24908438 25599563 25645918 25823786 25921289 25963833 26186194 26676887 27387303 28146062 28278270 28514442 30022368 |
GGH (Homo sapiens - human) |
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Ggh (Mus musculus - house mouse) |
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Ggh (Rattus norvegicus - Norway rat) |
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Ggh (Chinchilla lanigera - long-tailed chinchilla) |
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GGH (Pan paniscus - bonobo/pygmy chimpanzee) |
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GGH (Canis lupus familiaris - dog) |
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Ggh (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GGH (Sus scrofa - pig) |
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RH102394 |
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SHGC-36870 |
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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. |
RefSeq Transcripts | NG_028126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_003878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC120042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AH008298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK301094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC025025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U55206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_003878 ⟹ NP_003869 | |||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
CAGAGTCTCCGCTTAGGCGGCCCGTGGGGGTCGGGGTCGCGGTCGCGGTCGCGGACCGGGGACAhide sequence |
RefSeq Acc Id: | XM_011517623 ⟹ XP_011515925 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
AGCTTTTGAAAGGCGGCGGGAGGCGGCGAGCGCCATGGCCAGTCCGGGCTGCCTGCTGTGCGTGhide sequence |
Protein RefSeqs | NP_003869 | (Get FASTA) | NCBI Sequence Viewer |
XP_011515925 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC05579 | (Get FASTA) | NCBI Sequence Viewer |
AAF03360 | (Get FASTA) | NCBI Sequence Viewer | |
AAH25025 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83139 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62694 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86862 | (Get FASTA) | NCBI Sequence Viewer | |
Q92820 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003869 ⟸ NM_003878 |
- Peptide Label: | precursor |
- UniProtKB: | Q92820 (UniProtKB/Swiss-Prot) |
- Sequence: |
MASPGCLLCVLGLLLCGAASLELSRPHGDTAKKPIIGILMQKCRNKVMKNYGRYYIAASYVKYLhide sequence |
RefSeq Acc Id: | XP_011515925 ⟸ XM_011517623 |
- Peptide Label: | isoform X1 |
- Sequence: |
MASPGCLLCVLGLLLCGAASLELSRPHGDTAKKPIIGILMQKCRNKVMKNYGRYYIAASYVKYLhide sequence |
RGD ID: | 7213389 | |||||||||
Promoter ID: | EPDNEW_H12440 | |||||||||
Type: | initiation region | |||||||||
Name: | GGH_1 | |||||||||
Description: | gamma-glutamyl hydrolase | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 7213391 | |||||||||
Promoter ID: | EPDNEW_H12441 | |||||||||
Type: | initiation region | |||||||||
Name: | GGH_2 | |||||||||
Description: | gamma-glutamyl hydrolase | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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RGD ID: | 6806774 | |||||||||
Promoter ID: | HG_KWN:61378 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | UC003XUW.1 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | Seizures [RCV000051206]|See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 | copy number gain | Cleft palate, isolated [RCV000053653]|See cases [RCV000053653] | Chr8:57361243..79170078 [GRCh38] Chr8:58273802..80082313 [GRCh37] Chr8:58436356..80244868 [NCBI36] Chr8:8q12.1-21.13 |
pathogenic |
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|See cases [RCV000053654] | Chr8:61691800..82537696 [GRCh38] Chr8:62604359..83449931 [GRCh37] Chr8:62766913..83612486 [NCBI36] Chr8:8q12.3-21.13 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 | copy number loss | Preauricular pit [RCV000054242]|See cases [RCV000054242] | Chr8:62230636..73227786 [GRCh38] Chr8:63143195..74140021 [GRCh37] Chr8:63305749..74302575 [NCBI36] Chr8:8q12.3-21.11 |
pathogenic |
GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1 | copy number loss | See cases [RCV000133649] | Chr8:60816393..65117062 [GRCh38] Chr8:61728952..66029297 [GRCh37] Chr8:61891506..66191851 [NCBI36] Chr8:8q12.2-13.1 |
pathogenic |
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 | copy number gain | See cases [RCV000133720] | Chr8:46031334..69303787 [GRCh38] Chr8:46942956..70216022 [GRCh37] Chr8:47062121..70378576 [NCBI36] Chr8:8q11.1-13.2 |
pathogenic |
GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3 | copy number gain | See cases [RCV000134830] | Chr8:60519222..66659025 [GRCh38] Chr8:61431781..67571260 [GRCh37] Chr8:61594335..67733814 [NCBI36] Chr8:8q12.1-13.1 |
pathogenic |
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 | copy number gain | See cases [RCV000137672] | Chr8:55315854..64952752 [GRCh38] Chr8:56228414..65864987 [GRCh37] Chr8:56390968..66027541 [NCBI36] Chr8:8q12.1-12.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q12.3(chr8:62598005-63822225)x1 | copy number loss | See cases [RCV000138285] | Chr8:62598005..63822225 [GRCh38] Chr8:63510564..64734782 [GRCh37] Chr8:63673118..64897336 [NCBI36] Chr8:8q12.3 |
uncertain significance |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 | copy number gain | See cases [RCV000239428] | Chr8:53436131..65195953 [GRCh37] Chr8:8q11.23-12.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q12.3(chr8:63122839-64926318)x3 | copy number gain | See cases [RCV000446193] | Chr8:63122839..64926318 [GRCh37] Chr8:8q12.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 | copy number gain | not provided [RCV000846266] | Chr8:39555657..64049089 [GRCh37] Chr8:8p11.22-q12.3 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4248 | AgrOrtholog |
COSMIC | GGH | COSMIC |
Ensembl Genes | ENSG00000137563 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000260118 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000260118 | ENTREZGENE, UniProtKB/Swiss-Prot |
Gene3D-CATH | 3.40.50.880 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000137563 | GTEx |
HGNC ID | HGNC:4248 | ENTREZGENE |
Human Proteome Map | GGH | Human Proteome Map |
InterPro | Class_I_gatase-like | UniProtKB/Swiss-Prot |
Pept_C26_g-glut_hydrolase | UniProtKB/Swiss-Prot | |
Peptidase_C26 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:8836 | UniProtKB/Swiss-Prot |
NCBI Gene | 8836 | ENTREZGENE |
OMIM | 601509 | OMIM |
PANTHER | PTHR11315 | UniProtKB/Swiss-Prot |
Pfam | Peptidase_C26 | UniProtKB/Swiss-Prot |
PharmGKB | GGH | RGD, PharmGKB |
PROSITE | PEPTIDASE_C26_GGH | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF52317 | UniProtKB/Swiss-Prot |
UniGene | Hs.78619 | ENTREZGENE |
UniProt | GGH_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-01-26 | GGH | gamma-glutamyl hydrolase | gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-16 | GGH | gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) | GGH | gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) | Symbol and/or name change | 5135510 | APPROVED |
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More on GGH | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
RGD Object Information | |
RGD ID: | 735324 |
Created: | 2004-02-06 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.