Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Weight Gain | | ISO | ARHGEF12 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19030233 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Weight Gain | | ISO | ARHGEF12 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19030233 | |
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# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
3. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
5. | Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Feb 28;10(1):35-48. |
6. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
8. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
9. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
12. | Dynamic and coordinated expression profile of dbl-family guanine nucleotide exchange factors in the developing mouse brain. | Yoshizawa M, etal., Gene Expr Patterns 2003 Jun;3(3):375-81. |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12024019 | PMID:12123608 | PMID:12477932 | PMID:12492428 | PMID:12520002 | PMID:14513355 | PMID:14610273 |
PMID:15276214 | PMID:15741177 | PMID:15755723 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:16618939 | PMID:17959834 | PMID:18084302 | PMID:18164504 | PMID:18287559 | PMID:18799693 |
PMID:19265163 | PMID:19409815 | PMID:19811534 | PMID:20702813 | PMID:21267068 | PMID:21507947 | PMID:21572419 | PMID:21677750 | PMID:21873635 | PMID:22019888 | PMID:23129751 | PMID:23467409 |
PMID:23530122 | PMID:24106280 | PMID:24194600 | PMID:24448406 | PMID:24469813 | PMID:24740538 | PMID:25857352 | PMID:26334261 | PMID:26531127 | PMID:27345948 | PMID:28106300 | PMID:28465324 |
PMID:28671696 | PMID:29208526 | PMID:29459677 | PMID:31040226 | PMID:31467124 | PMID:31549965 | PMID:32325033 | PMID:35675330 |
Arhgef12 (Mus musculus - house mouse) |
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ARHGEF12 (Homo sapiens - human) |
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Arhgef12 (Rattus norvegicus - Norway rat) |
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Arhgef12 (Chinchilla lanigera - long-tailed chinchilla) |
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ARHGEF12 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ARHGEF12 (Canis lupus familiaris - dog) |
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Arhgef12 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ARHGEF12 (Sus scrofa - pig) |
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ARHGEF12 (Chlorocebus sabaeus - green monkey) |
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Arhgef12 (Heterocephalus glaber - naked mole-rat) |
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Variants in Arhgef12
4162 total Variants |
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 |
RH136306 |
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UniSTS:236103 |
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RefSeq Transcripts | NM_001359232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_027144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011242597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011242598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017313565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017313566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017313567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030244571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030244572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030244573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC110169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC160123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC173346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF467766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK009331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK086080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK122267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK134855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK162687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC052785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000072767 ⟹ ENSMUSP00000072547 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000165665 ⟹ ENSMUSP00000126598 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000213566 ⟹ ENSMUSP00000150833 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000214175 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000215898 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000217502 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001359232 ⟹ NP_001346161 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_027144 ⟹ NP_081420 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011242597 ⟹ XP_011240899 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011242598 ⟹ XP_011240900 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017313565 ⟹ XP_017169054 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017313566 ⟹ XP_017169055 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017313567 ⟹ XP_017169056 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030244571 ⟹ XP_030100431 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030244572 ⟹ XP_030100432 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030244573 ⟹ XP_030100433 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155253 ⟹ XP_036011146 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155254 ⟹ XP_036011147 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001346161 | (Get FASTA) | NCBI Sequence Viewer |
NP_081420 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011240899 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011240900 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017169054 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017169055 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017169056 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030100431 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030100432 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030100433 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011146 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011147 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH52785 | (Get FASTA) | NCBI Sequence Viewer |
AAL87100 | (Get FASTA) | NCBI Sequence Viewer | |
BAB26223 | (Get FASTA) | NCBI Sequence Viewer | |
BAC65549 | (Get FASTA) | NCBI Sequence Viewer | |
BAE22313 | (Get FASTA) | NCBI Sequence Viewer | |
EDL25545 | (Get FASTA) | NCBI Sequence Viewer | |
EDL25546 | (Get FASTA) | NCBI Sequence Viewer | |
EDL25547 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000072547 | ||
ENSMUSP00000072547.7 | |||
ENSMUSP00000126598 | |||
ENSMUSP00000126598.2 | |||
ENSMUSP00000150833.2 | |||
GenBank Protein | Q8R4H2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_081420 ⟸ NM_027144 |
- Peptide Label: | isoform 1 |
- UniProtKB: | F8VQN6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011240899 ⟸ XM_011242597 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011240900 ⟸ XM_011242598 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | XP_017169056 ⟸ XM_017313567 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_017169054 ⟸ XM_017313565 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_017169055 ⟸ XM_017313566 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | NP_001346161 ⟸ NM_001359232 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8R4H2 (UniProtKB/Swiss-Prot), E9QPW9 (UniProtKB/Swiss-Prot), Q80U18 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030100433 ⟸ XM_030244573 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_030100432 ⟸ XM_030244572 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_030100431 ⟸ XM_030244571 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | ENSMUSP00000072547 ⟸ ENSMUST00000072767 |
RefSeq Acc Id: | ENSMUSP00000126598 ⟸ ENSMUST00000165665 |
RefSeq Acc Id: | ENSMUSP00000150833 ⟸ ENSMUST00000213566 |
RefSeq Acc Id: | XP_036011146 ⟸ XM_036155253 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_036011147 ⟸ XM_036155254 |
- Peptide Label: | isoform X7 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8R4H2-F1-model_v2 | AlphaFold | Q8R4H2 | 1-1543 | view protein structure |
RGD ID: | 6844180 | ||||||||
Promoter ID: | MM_KWN:57059 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day3, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6 | ||||||||
Transcripts: | ENSMUST00000072767, NM_027144, UC009PBB.1, UC009PBC.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1916882 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000059495 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000072767 | ENTREZGENE |
ENSMUST00000072767.7 | UniProtKB/Swiss-Prot | |
ENSMUST00000165665 | ENTREZGENE | |
ENSMUST00000165665.9 | UniProtKB/TrEMBL | |
ENSMUST00000213566.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.167.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.900.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
2.30.42.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | ARHGEF12_PH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DBL_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DH-domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GDS_CDC24_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LARG_RGS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RGS-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RGS_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RGS_subdomain_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MGD | MGI:1916882 | ENTREZGENE |
NCBI Gene | 69632 | ENTREZGENE |
PANTHER | RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2, ISOFORM D | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PH_16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RGS-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RhoGEF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Arhgef12 | PhenoGen |
PROSITE | DH_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DH_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RhoGEF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00233 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48065 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF48097 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF50156 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A1L1SUP5_MOUSE | UniProtKB/TrEMBL |
ARHGC_MOUSE | UniProtKB/Swiss-Prot | |
E9QPW9 | ENTREZGENE | |
F8VQN6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3UY99_MOUSE | UniProtKB/TrEMBL | |
Q7TSU5_MOUSE | UniProtKB/TrEMBL | |
Q80U18 | ENTREZGENE | |
Q8R4H2 | ENTREZGENE | |
Q9D7D6_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | E9QPW9 | UniProtKB/Swiss-Prot |
Q80U18 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2023-06-27 | Arhgef12 | Rho guanine nucleotide exchange factor 12 | Arhgef12 | Rho guanine nucleotide exchange factor (GEF) 12 | Symbol and/or name change | 5135510 | APPROVED |