Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | X-linked myopathy with excessive autophagy | | ISO | VMA21 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | X-linked myopathy with excessive autophagy | | ISO | VMA21 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:16141072 | PMID:16141073 | PMID:21267068 | PMID:21873635 | PMID:32554809 |
PMID:37756622 |
Vma21 (Mus musculus - house mouse) |
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VMA21 (Homo sapiens - human) |
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Vma21 (Rattus norvegicus - Norway rat) |
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Vma21 (Chinchilla lanigera - long-tailed chinchilla) |
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VMA21 (Pan paniscus - bonobo/pygmy chimpanzee) |
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VMA21 (Canis lupus familiaris - dog) |
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Vma21 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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VMA21 (Sus scrofa - pig) |
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VMA21 (Chlorocebus sabaeus - green monkey) |
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Vma21 (Heterocephalus glaber - naked mole-rat) |
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Variants in Vma21
181 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 |
AI840175 |
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RefSeq Transcripts | NM_001081356 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001290780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001290781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006528261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA015086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC124211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF130357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ748652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK008848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK011632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK045401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK049296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK049488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK138582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK164163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL807394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC028317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC094639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF318364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF658338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG143407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ062712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ071023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ137757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX564875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000114575 ⟹ ENSMUSP00000110222 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000114576 ⟹ ENSMUSP00000110223 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000114577 ⟹ ENSMUSP00000110224 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000138979 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000154054 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001081356 ⟹ NP_001074825 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001290780 ⟹ NP_001277709 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001290781 ⟹ NP_001277710 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006528261 ⟹ XP_006528324 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001074825 | (Get FASTA) | NCBI Sequence Viewer |
NP_001277709 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001277710 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006528324 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH28317 | (Get FASTA) | NCBI Sequence Viewer |
AAH94639 | (Get FASTA) | NCBI Sequence Viewer | |
BAC33664 | (Get FASTA) | NCBI Sequence Viewer | |
BAC33774 | (Get FASTA) | NCBI Sequence Viewer | |
BAE23704 | (Get FASTA) | NCBI Sequence Viewer | |
BAE37657 | (Get FASTA) | NCBI Sequence Viewer | |
CAG38686 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000110222 | ||
ENSMUSP00000110222.4 | |||
ENSMUSP00000110223 | |||
ENSMUSP00000110223.3 | |||
ENSMUSP00000110224 | |||
ENSMUSP00000110224.2 | |||
GenBank Protein | Q78T54 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001074825 ⟸ NM_001081356 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q3UUC3 (UniProtKB/Swiss-Prot), Q78T54 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006528324 ⟸ XM_006528261 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001277710 ⟸ NM_001290781 |
- Peptide Label: | isoform 3 |
- UniProtKB: | F2Z446 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001277709 ⟸ NM_001290780 |
- Peptide Label: | isoform 1 |
- UniProtKB: | F2Z447 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000110224 ⟸ ENSMUST00000114577 |
RefSeq Acc Id: | ENSMUSP00000110222 ⟸ ENSMUST00000114575 |
RefSeq Acc Id: | ENSMUSP00000110223 ⟸ ENSMUST00000114576 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q78T54-F1-model_v2 | AlphaFold | Q78T54 | 1-101 | view protein structure |
RGD ID: | 6845389 | ||||||||
Promoter ID: | MM_KWN:60653 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000101496, ENSMUST00000114576, ENSMUST00000114577, ENSMUST00000114578, OTTMUST00000043143, OTTMUST00000043144, OTTMUST00000043145 | ||||||||
Position: |
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RGD ID: | 13680660 | ||||||||
Promoter ID: | EPDNEW_M24479 | ||||||||
Type: | initiation region | ||||||||
Name: | Vma21_2 | ||||||||
Description: | Mus musculus VMA21 vacuolar H+-ATPase homolog , transcript variant1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M24480 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13680662 | ||||||||
Promoter ID: | EPDNEW_M24480 | ||||||||
Type: | initiation region | ||||||||
Name: | Vma21_1 | ||||||||
Description: | Mus musculus VMA21 vacuolar H+-ATPase homolog , transcript variant1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M24479 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1914298 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000073131 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000114575 | ENTREZGENE |
ENSMUST00000114575.4 | UniProtKB/TrEMBL | |
ENSMUST00000114576 | ENTREZGENE | |
ENSMUST00000114576.9 | UniProtKB/Swiss-Prot | |
ENSMUST00000114577 | ENTREZGENE | |
ENSMUST00000114577.8 | UniProtKB/TrEMBL | |
InterPro | Vma21 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | mmu:67048 | UniProtKB/Swiss-Prot |
MGD | MGI:1914298 | ENTREZGENE |
NCBI Gene | 67048 | ENTREZGENE |
PANTHER | PTHR31792 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
VACUOLAR ATPASE ASSEMBLY INTEGRAL MEMBRANE PROTEIN VMA21 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | VMA21 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Vma21 | PhenoGen |
UniProt | F2Z446 | ENTREZGENE, UniProtKB/TrEMBL |
F2Z447 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3UUC3 | ENTREZGENE | |
Q78T54 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q3UUC3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2011-07-27 | Vma21 | VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) | 2610030H06Rik | RIKEN cDNA 2610030H06 gene | Symbol and/or name change | 5135510 | APPROVED |