FXYD2 FXYD domain containing ion transport regulator 2
Information
- Symbol
- FXYD2
- Type
- protein-coding
- Description
- FXYD domain containing ion transport regulator 2
- Entrez Gene ID
- 486
- Genome
- hg19
- Position
- chr11:117,690,772-117,695,459
- Genome
- hg38
- Position
- chr11:117,820,057-117,824,744
- MIM
- 601814 OMIM
- HGNC
- HGNC:4026 HGNC
- Ensembl
- ENSG00000137731 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 64 |
| Likely benign | 0 | 58 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
36 |
 |
116 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ATP1G1 |
| SYNONYM | HOMG2 |
| MIM | 601814 OMIM |
| HGNC | HGNC:4026 HGNC |
| Ensembl | ENSG00000137731 Ensembl |
| AllianceGenome | HGNC:4026 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000528014.5 | hg38 | chr11 | 117,820,070 | 117,828,698 | 8,629 |
| ENST00000532119.5 | hg38 | chr11 | 117,801,730 | 117,828,068 | 26,339 |
| ENST00000260287.2 | hg38 | chr11 | 117,820,140 | 117,828,092 | 7,953 |
| ENST00000292079.7 | hg38 | chr11 | 117,820,057 | 117,824,744 | 4,688 |
| ENST00000532119.5 | hg19 | chr11 | 117,672,445 | 117,698,783 | 26,339 |
| ENST00000292079.7 | hg19 | chr11 | 117,690,772 | 117,695,459 | 4,688 |
| ENST00000528014.5 | hg19 | chr11 | 117,690,785 | 117,699,413 | 8,629 |
| ENST00000260287.2 | hg19 | chr11 | 117,690,855 | 117,698,807 | 7,953 |
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