Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ARHGAP44 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ARHGAP44 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS. | Le Clerc S, etal., J Acquir Immune Defic Syndr. 2011 Mar 1;56(3):279-84. doi: 10.1097/QAI.0b013e318204982b. |
2. | Genetic variants in the genes encoding rho GTPases and related regulators predict cutaneous melanoma-specific survival. | Liu S, etal., Int J Cancer. 2017 Aug 15;141(4):721-730. doi: 10.1002/ijc.30785. Epub 2017 Jun 1. |
3. | A comprehensive landscape of transcription profiles and data resources for human leukemia. | Luo M, etal., Blood Adv. 2023 Jul 25;7(14):3435-3449. doi: 10.1182/bloodadvances.2022008410. |
4. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
5. | RICH2 is implicated in viraemic control of HIV-1 in black South African individuals. | Paximadis M, etal., Infect Genet Evol. 2017 Apr;49:78-87. doi: 10.1016/j.meegid.2017.01.007. Epub 2017 Jan 6. |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
8. | Mutant p53 promotes cell spreading and migration via ARHGAP44. | Xu J, etal., Sci China Life Sci. 2017 Sep;60(9):1019-1029. doi: 10.1007/s11427-016-9040-8. Epub 2017 May 16. |
9. | RICH2, a potential tumor suppressor in hepatocellular carcinoma. | Zhang J, etal., Front Biosci (Landmark Ed). 2019 Jun 1;24(8):1363-1376. doi: 10.2741/4784. |
PMID:8889548 | PMID:10349636 | PMID:10725249 | PMID:11042159 | PMID:11076861 | PMID:11125038 | PMID:11217851 | PMID:11431473 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:14610273 |
PMID:15489334 | PMID:16141072 | PMID:16141073 | PMID:16512683 | PMID:16602821 | PMID:21267068 | PMID:21873635 | PMID:23739967 | PMID:24352656 | PMID:26969129 | PMID:28642683 | PMID:28671696 |
PMID:32325033 | PMID:37926169 |
Arhgap44 (Mus musculus - house mouse) |
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ARHGAP44 (Homo sapiens - human) |
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Arhgap44 (Rattus norvegicus - Norway rat) |
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Arhgap44 (Chinchilla lanigera - long-tailed chinchilla) |
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ARHGAP44 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ARHGAP44 (Canis lupus familiaris - dog) |
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Arhgap44 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ARHGAP44 (Sus scrofa - pig) |
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ARHGAP44 (Chlorocebus sabaeus - green monkey) |
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Arhgap44 (Heterocephalus glaber - naked mole-rat) |
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Variants in Arhgap44
6351 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 |
AI840762 |
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AU040829 |
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RH124888 |
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UniSTS:236614 |
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RH138269 |
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UniSTS:224505 |
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RH125885 |
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RefSeq Transcripts | NM_001099288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001408223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001408224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001408226 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001408228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_175003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006532874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030245812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK032008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK053220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK079081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL663045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC056366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC059911 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ059392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000047463 ⟹ ENSMUSP00000039139 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000093001 ⟹ ENSMUSP00000090680 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000093002 ⟹ ENSMUSP00000090681 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000130420 ⟹ ENSMUSP00000115612 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001099288 ⟹ NP_001092758 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001408223 ⟹ NP_001395152 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001408224 ⟹ NP_001395153 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001408226 ⟹ NP_001395155 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001408228 ⟹ NP_001395157 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_175003 ⟹ NP_778168 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006532874 ⟹ XP_006532937 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030245812 ⟹ XP_030101672 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001092758 | (Get FASTA) | NCBI Sequence Viewer |
NP_001395152 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001395153 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001395155 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001395157 | (Get FASTA) | NCBI Sequence Viewer | |
NP_778168 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006532937 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030101672 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH56366 | (Get FASTA) | NCBI Sequence Viewer |
AAH59911 | (Get FASTA) | NCBI Sequence Viewer | |
BAC27646 | (Get FASTA) | NCBI Sequence Viewer | |
BAC35316 | (Get FASTA) | NCBI Sequence Viewer | |
EDL10400 | (Get FASTA) | NCBI Sequence Viewer | |
EDL10401 | (Get FASTA) | NCBI Sequence Viewer | |
EDL10402 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000039139 | ||
ENSMUSP00000039139.9 | |||
ENSMUSP00000090680.5 | |||
ENSMUSP00000090681 | |||
ENSMUSP00000090681.6 | |||
ENSMUSP00000115612 | |||
ENSMUSP00000115612.2 | |||
GenBank Protein | Q5SSM3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_778168 ⟸ NM_175003 |
- Peptide Label: | isoform 2 |
- UniProtKB: | F6T1Y2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001092758 ⟸ NM_001099288 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q5SSM3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006532937 ⟸ XM_006532874 |
- Peptide Label: | isoform X4 |
- UniProtKB: | F6T1Y2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_030101672 ⟸ XM_030245812 |
- Peptide Label: | isoform X4 |
- UniProtKB: | F6T1Y2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000115612 ⟸ ENSMUST00000130420 |
RefSeq Acc Id: | ENSMUSP00000090681 ⟸ ENSMUST00000093002 |
RefSeq Acc Id: | ENSMUSP00000090680 ⟸ ENSMUST00000093001 |
RefSeq Acc Id: | ENSMUSP00000039139 ⟸ ENSMUST00000047463 |
RefSeq Acc Id: | NP_001395155 ⟸ NM_001408226 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001395157 ⟸ NM_001408228 |
- Peptide Label: | isoform 6 |
- UniProtKB: | F6T1Y2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001395152 ⟸ NM_001408223 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q7TNB9 (UniProtKB/Swiss-Prot), Q5SSM7 (UniProtKB/Swiss-Prot), Q5SSM6 (UniProtKB/Swiss-Prot), Q5SSM4 (UniProtKB/Swiss-Prot), Q5SSM3 (UniProtKB/Swiss-Prot), Q8BW90 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001395153 ⟸ NM_001408224 |
- Peptide Label: | isoform 4 |
- UniProtKB: | F6T1Y2 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5SSM3-F1-model_v2 | AlphaFold | Q5SSM3 | 1-814 | view protein structure |
RGD ID: | 6820474 | ||||||||
Promoter ID: | MM_KWN:7892 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | ENSMUST00000093002, ENSMUST00000093003, NM_001099288, NM_175003, OTTMUST00000013122 | ||||||||
Position: |
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RGD ID: | 8675036 | ||||||||
Promoter ID: | EPDNEW_M15549 | ||||||||
Type: | initiation region | ||||||||
Name: | Arhgap44_1 | ||||||||
Description: | Mus musculus Rho GTPase activating protein 44 , transcript variant1, mRNA. | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | MGI:2144423 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000033389 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000047463 | ENTREZGENE |
ENSMUST00000047463.15 | UniProtKB/Swiss-Prot | |
ENSMUST00000093001.5 | UniProtKB/Swiss-Prot | |
ENSMUST00000093002 | ENTREZGENE | |
ENSMUST00000093002.12 | UniProtKB/Swiss-Prot | |
ENSMUST00000130420 | ENTREZGENE | |
ENSMUST00000130420.8 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.555.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.1270.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | AH/BAR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BAR_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RHG17/44/SH3BP1-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rho_GTPase_activation_prot | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RhoGAP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:216831 | UniProtKB/Swiss-Prot |
MGD | MGI:2144423 | ENTREZGENE |
NCBI Gene | 216831 | ENTREZGENE |
PANTHER | 3BP-1 RELATED RHOGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RHO GTPASE-ACTIVATING PROTEIN 44 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BAR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RhoGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Arhgap44 | PhenoGen |
PROSITE | BAR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RHOGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | BAR | UniProtKB/Swiss-Prot |
RhoGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF103657 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48350 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | F6T1Y2 | ENTREZGENE, UniProtKB/TrEMBL |
Q5SSM3 | ENTREZGENE | |
Q5SSM4 | ENTREZGENE | |
Q5SSM6 | ENTREZGENE | |
Q5SSM7 | ENTREZGENE | |
Q7TNB9 | ENTREZGENE | |
Q8BW90 | ENTREZGENE | |
Q8C090_MOUSE | UniProtKB/TrEMBL | |
RHG44_MOUSE | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q5SSM4 | UniProtKB/Swiss-Prot |
Q5SSM6 | UniProtKB/Swiss-Prot | |
Q5SSM7 | UniProtKB/Swiss-Prot | |
Q7TNB9 | UniProtKB/Swiss-Prot | |
Q8BW90 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2011-07-27 | Arhgap44 | Rho GTPase activating protein 44 | AU040829 | expressed sequence AU040829 | Symbol and/or name change | 5135510 | APPROVED |