ENSG00000137731
Homo sapiens | |
Features
| Gene ID: | ENSG00000137731 | | | | | Biological name : | FXYD2 | | | | | Synonyms : | FXYD2 / FXYD domain containing ion transport regulator 2 / P54710 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 11 | | Strand: | -1 | | Band: | q23.3 | | Gene start: | 117800844 | | Gene end: | 117828698 | | | | | Corresponding Affymetrix probe sets: | 1556294_at (Human Genome U133 Plus 2.0 Array) 205674_x_at (Human Genome U133 Plus 2.0 Array) 207434_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000432430
Ensembl peptide - ENSP00000436414
Ensembl peptide - ENSP00000260287
Ensembl peptide - ENSP00000292079
NCBI entrez gene - 486
See in Manteia.
OMIM - 601814
RefSeq - NM_001680
RefSeq - NM_021603
RefSeq Peptide - NP_001671
RefSeq Peptide - NP_067614
swissprot - P54710
Ensembl - ENSG00000137731
| | | | | Related genetic diseases (OMIM): | 154020 - Hypomagnesemia 2, renal, 154020 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000272 | Ion-transport regulator, FXYD motif |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000083 | Renal failure | |
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| | HP:0000934 | Chondrocalcinosis | |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0002900 | Hypokalemia | |
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| | HP:0002917 | Hypomagnesemia | |
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| | HP:0003127 | Hypocalciuria | |
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| | HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| | HP:0005567 | Renal magnesium wasting | |
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Interacting proteins (from Reactome)
No match
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