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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 17alpha-ethynylestradiol | increases expression | ISO | RGD:1304672 | 6480464 | Ethinyl Estradiol results in increased expression of CASTOR2 mRNA | CTD | PMID:29097150 | 17beta-estradiol | increases expression | EXP | | 6480464 | Estradiol results in increased expression of CASTOR2 mRNA | CTD | PMID:23019147 | 2,3,7,8-tetrachlorodibenzodioxine | decreases expression | ISO | RGD:1312251 | 6480464 | Tetrachlorodibenzodioxin results in decreased expression of CASTOR2 mRNA | CTD | PMID:28922406 | 2-hydroxypropanoic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of CASTOR2 mRNA | CTD | PMID:30851411 | 4-hydroxyphenyl retinamide | decreases expression | ISO | RGD:1312251 | 6480464 | Fenretinide results in decreased expression of CASTOR2 mRNA | CTD | PMID:28973697 | 6-propyl-2-thiouracil | increases expression | ISO | RGD:1304672 | 6480464 | Propylthiouracil results in increased expression of CASTOR2 mRNA | CTD | PMID:24780913 | amphetamine | decreases expression | ISO | RGD:1304672 | 6480464 | Amphetamine results in decreased expression of CASTOR2 mRNA | CTD | PMID:30779732 | benzo[a]pyrene | increases expression | ISO | RGD:1312251 | 6480464 | Benzo(a)pyrene results in increased expression of CASTOR2 mRNA | CTD | PMID:22228805 | benzo[a]pyrene | multiple interactions | ISO | RGD:1312251 | 6480464 | AHR protein affects the reaction [Benzo(a)pyrene affects the expression of CASTOR2 mRNA] | CTD | PMID:22228805 | bisphenol A | affects expression | ISO | RGD:1304672 | 6480464 | bisphenol A affects the expression of CASTOR2 mRNA | CTD | PMID:25181051 | copper atom | multiple interactions | ISO | RGD:1304672 | 6480464 | [Copper co-treated with Dietary Sucrose] results in increased expression of CASTOR2 mRNA | CTD | PMID:26033743 | copper atom | increases expression | ISO | RGD:1304672 | 6480464 | Copper deficiency results in increased expression of CASTOR2 mRNA | CTD | PMID:26033743 | copper(0) | multiple interactions | ISO | RGD:1304672 | 6480464 | [Copper co-treated with Dietary Sucrose] results in increased expression of CASTOR2 mRNA | CTD | PMID:26033743 | copper(0) | increases expression | ISO | RGD:1304672 | 6480464 | Copper deficiency results in increased expression of CASTOR2 mRNA | CTD | PMID:26033743 | copper(II) sulfate | increases expression | ISO | RGD:1312251 | 6480464 | Copper Sulfate results in increased expression of CASTOR2 mRNA | CTD | PMID:18579281 | dioxygen | multiple interactions | ISO | RGD:1312251 | 6480464 | [NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of CASTOR2 mRNA | CTD | PMID:30529165 | doxorubicin | decreases expression | EXP | | 6480464 | Doxorubicin results in decreased expression of CASTOR2 mRNA | CTD | PMID:29803840 | ethanol | affects expression | ISO | RGD:1312251 | 6480464 | Ethanol affects the expression of CASTOR2 mRNA | CTD | PMID:30319688 | genistein | increases methylation | ISO | RGD:1304672 | 6480464 | Genistein results in increased methylation of CASTOR2 gene | CTD | PMID:28505145 | rac-lactic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of CASTOR2 mRNA | CTD | PMID:30851411 | silver atom | decreases expression | ISO | RGD:1312251 | 6480464 | Silver results in decreased expression of CASTOR2 mRNA | CTD | PMID:27131904 | silver(0) | decreases expression | ISO | RGD:1312251 | 6480464 | Silver results in decreased expression of CASTOR2 mRNA | CTD | PMID:27131904 | trichostatin A | affects expression | EXP | | 6480464 | trichostatin A affects the expression of CASTOR2 mRNA | CTD | PMID:28542535 | urethane | increases expression | EXP | | 6480464 | Urethane results in increased expression of CASTOR2 mRNA | CTD | PMID:28818685 | |
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1. | Hallett JE and Manning BD, Cell. 2016 Mar 24;165(1):15-7. doi: 10.1016/j.cell.2016.03.002. |
2. | RGD automated import pipeline for gene-chemical interactions |
CASTOR2 (Homo sapiens - human) |
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Castor2 (Mus musculus - house mouse) |
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Castor2 (Rattus norvegicus - Norway rat) |
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Castor2 (Chinchilla lanigera - long-tailed chinchilla) |
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CASTOR2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CASTOR2 (Canis lupus familiaris - dog) |
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Castor2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CASTOR2 (Sus scrofa - pig) |
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GDB:4585539 |
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GDB:4585659 |
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GDB:1234266 |
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RefSeq Transcripts | NM_001145064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017012574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC004166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC004878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC118138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC124781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC245150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK123110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL832384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC018936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC048422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC147030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC147031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC150658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR743064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DN831814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DN831815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DR731193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001145064 ⟹ NP_001138536 | |||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
GCCTCCTCCCTTTTGTCCGGCCCGGCCCGGCCGCCGCCGCCCCCCGCGCCCGGCGCCGAGCTCChide sequence |
RefSeq Acc Id: | XM_017012574 ⟹ XP_016868063 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
ACAGCGAACACCAGCTGCTCCCCGCGCCGGGCGCCGCGCGCCGCTGCTCCGCCGCTCGGCCCCThide sequence |
Protein RefSeqs | NP_001138536 | (Get FASTA) | NCBI Sequence Viewer |
XP_016868063 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | A6NHX0 | (Get FASTA) | NCBI Sequence Viewer |
AAI47031 | (Get FASTA) | NCBI Sequence Viewer | |
AAI47032 | (Get FASTA) | NCBI Sequence Viewer | |
AAI50659 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001138536 ⟸ NM_001145064 |
- UniProtKB: | A6NHX0 (UniProtKB/Swiss-Prot) |
- Sequence: |
MELHILEHRLQVASVAKESIPLFTYGLIKLAFLSSKTRCKFFSLTETPEDYTIIVDEEGFLELPhide sequence |
RefSeq Acc Id: | XP_016868063 ⟸ XM_017012574 |
- Peptide Label: | isoform X1 |
- Sequence: |
MELHILEHRLQVASVAKESIPLFTYGLIKLAFLSSKTRCKFFSLTETPEDYTIIVDEEGFLELPhide sequence |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050709]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050709]|See cases [RCV000050709] | Chr7:71225344..81735657 [GRCh38] Chr7:70690330..81364973 [GRCh37] Chr7:70328266..81202909 [NCBI36] Chr7:7q11.22-21.11 |
pathogenic |
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] | Chr7:64560824..79186156 [GRCh38] Chr7:64021202..78815472 [GRCh37] Chr7:63658637..78653408 [NCBI36] Chr7:7q11.21-21.11 |
pathogenic |
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 | copy number gain | Macrocephaly [RCV000051965]|See cases [RCV000051965] | Chr7:72649515..75361855 [GRCh38] Chr7:72196405..74991125 [GRCh37] Chr7:71752436..74829061 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|See cases [RCV000054111] | Chr7:69382353..77823832 [GRCh38] Chr7:68847339..77453149 [GRCh37] Chr7:68485275..77291085 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic |
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 | copy number loss | Arachnoid cyst [RCV000054118]|See cases [RCV000054118] | Chr7:73873420..83988860 [GRCh38] Chr7:73992744..83618176 [GRCh37] Chr7:72925686..83456112 [NCBI36] Chr7:7q11.23-21.11 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1 | copy number loss | Global developmental delay [RCV000054121]|See cases [RCV000054121] | Chr7:74176025..75361855 [GRCh38] Chr7:73992744..74991125 [GRCh37] Chr7:73228291..74829061 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:74068087-75068321)x3 | copy number gain | See cases [RCV000141316] | Chr7:74068087..75068321 [GRCh38] Chr7:73482417..74481540 [GRCh37] Chr7:73120353..74119476 [NCBI36] Chr7:7q11.23 |
likely benign |
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 | copy number loss | See cases [RCV000133638] | Chr7:73352304..76722261 [GRCh38] Chr7:72766313..76351578 [GRCh37] Chr7:72404249..76189514 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 | copy number gain | See cases [RCV000135712] | Chr7:73040501..75255046 [GRCh38] Chr7:74285295..76351578 [GRCh37] Chr7:73923231..76189514 [NCBI36] Chr7:7q11.23 |
uncertain significance |
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 | copy number gain | See cases [RCV000137731] | Chr7:73040501..75255046 [GRCh38] Chr7:72635638..74904285 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 | copy number loss | See cases [RCV000142381] | Chr7:74377395..82031742 [GRCh38] Chr7:73992744..81661058 [GRCh37] Chr7:73429661..81498994 [NCBI36] Chr7:7q11.23-21.11 |
pathogenic |
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 | copy number gain | See cases [RCV000142242] | Chr7:62977085..75415352 [GRCh38] Chr7:62437463..75044630 [GRCh37] Chr7:62074898..74882566 [NCBI36] Chr7:7q11.21-11.23 |
pathogenic |
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 | copy number loss | See cases [RCV000142528] | Chr7:62736364..75432710 [GRCh38] Chr7:62196742..75061986 [GRCh37] Chr7:61834177..74899922 [NCBI36] Chr7:7q11.21-11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 | copy number gain | See cases [RCV000142690] | Chr7:73352304..75065728 [GRCh38] Chr7:72766313..74481540 [GRCh37] Chr7:72404249..74119476 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) | copy number gain | See cases [RCV000143454] | Chr7:72179092..79164071 [GRCh38] Chr7:71644077..78793387 [GRCh37] Chr7:71282013..78631323 [NCBI36] Chr7:7q11.22-21.11 |
likely pathogenic |
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1 | copy number loss | See cases [RCV000240532] | Chr7:73591993..75914797 [GRCh37] Chr7:7q11.23 |
likely pathogenic |
TMEM106B-BRAF fusion | deletion | Pleomorphic xanthoastrocytoma [RCV000454357] | Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 | copy number loss | See cases [RCV000510782] | Chr7:72456604..76007380 [GRCh37] Chr7:7q11.23 |
pathogenic |
Single allele | deletion | not provided [RCV000677988] | Chr7:73591993..93683437 [GRCh37] Chr7:7q11.23-21.3 |
uncertain significance |
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 | copy number gain | not provided [RCV000682898] | Chr7:72577021..74859638 [GRCh37] Chr7:7q11.23 |
pathogenic |
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | Speech-language disorder 1 [RCV000234948] | Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:74772735-74837045)x0 | copy number loss | not provided [RCV000746814] | Chr7:74772735..74837045 [GRCh37] Chr7:7q11.23 |
benign |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72744494-76038818) | copy number loss | Williams syndrome [RCV000767638] | Chr7:72744494..76038818 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:73799886-75388031)x1 | copy number loss | not provided [RCV000848421] | Chr7:73799886..75388031 [GRCh37] Chr7:7q11.23 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:37073 | AgrOrtholog |
COSMIC | CASTOR2 | COSMIC |
Ensembl Genes | ENSG00000274070 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000484732 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000616305 | ENTREZGENE, UniProtKB/Swiss-Prot |
GTEx | ENSG00000274070 | GTEx |
HGNC ID | HGNC:37073 | ENTREZGENE |
Human Proteome Map | CASTOR2 | Human Proteome Map |
InterPro | CASTOR1_N | UniProtKB/Swiss-Prot |
CASTOR_ACT_dom | UniProtKB/Swiss-Prot | |
CASTOR_fam | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:729438 | UniProtKB/Swiss-Prot |
NCBI Gene | 729438 | ENTREZGENE |
OMIM | 617033 | OMIM |
Pfam | ACT_7 | UniProtKB/Swiss-Prot |
Castor1_N | UniProtKB/Swiss-Prot | |
PharmGKB | PA164720237 | PharmGKB |
PRINTS | GATSLIKEFMLY | UniProtKB/Swiss-Prot |
UniGene | Hs.594823 | ENTREZGENE |
Hs.647031 | ENTREZGENE | |
Hs.647048 | ENTREZGENE | |
Hs.647505 | ENTREZGENE | |
Hs.728007 | ENTREZGENE | |
UniProt | A6NHX0 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | A6NNH0 | UniProtKB/Swiss-Prot |
B9EJH9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2017-02-28 | CASTOR2 | cytosolic arginine sensor for mTORC1 subunit 2 | GATSL2 | GATS protein like 2 | Symbol and/or name change | 5135510 | APPROVED |
2016-06-21 | GATSL2 | GATS protein like 2 | GATS protein-like 2 | Symbol and/or name change | 5135510 | APPROVED | |
2016-04-05 | GATSL2 | GATS protein-like 2 | GATSL1 | GATS protein-like 1 | Data Merged | 737654 | PROVISIONAL |
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More on CASTOR2 | |
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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 |
CRRD Object Information | |
CRRD ID: | 2306471 |
Created: | 2009-04-17 |
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.