ENSG00000204410
Homo sapiens | |
Features
| Gene ID: | ENSG00000204410 | | | | | Biological name : | MSH5 | | | | | Synonyms : | MSH5 / mutS homolog 5 / O43196 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | 1 | | Band: | p21.33 | | Gene start: | 31739948 | | Gene end: | 31762834 | | | | | Corresponding Affymetrix probe sets: | 210410_s_at (Human Genome U133 Plus 2.0 Array) 221406_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000394971
Ensembl peptide - ENSP00000420232
Ensembl peptide - ENSP00000419648
Ensembl peptide - ENSP00000419131
Ensembl peptide - ENSP00000406849
Ensembl peptide - ENSP00000406352
Ensembl peptide - ENSP00000402842
Ensembl peptide - ENSP00000364855
Ensembl peptide - ENSP00000364892
Ensembl peptide - ENSP00000364903
Ensembl peptide - ENSP00000364908
Ensembl peptide - ENSP00000379194
NCBI entrez gene - 4439
See in Manteia.
OMIM - 603382
RefSeq - NM_172165
RefSeq - NM_172166
RefSeq - NM_025259
RefSeq - NM_002441
RefSeq Peptide - NP_751897
RefSeq Peptide - NP_751898
RefSeq Peptide - NP_002432
RefSeq Peptide - NP_079535
swissprot - O43196
swissprot - A2ABF1
swissprot - Q5SSR2
swissprot - A2ABF0
swissprot - A2ABE9
swissprot - A0A024RCV6
swissprot - A0A024RCM1
swissprot - H0YDS7
swissprot - H7C2J4
swissprot - H7C572
swissprot - H7C5D6
Ensembl - ENSG00000204410
| | | | | Related genetic diseases (OMIM): | 617442 - ?Premature ovarian failure 13, 617442 |
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)
| IPR000432 | DNA mismatch repair protein MutS, C-terminal | | IPR007696 | DNA mismatch repair protein MutS, core | | IPR007861 | DNA mismatch repair protein MutS, clamp | | IPR011184 | DNA mismatch repair Msh2-type | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase | | IPR036187 | DNA mismatch repair protein MutS, core domain superfamily | | IPR036678 | MutS, connector domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000876 | Oligomenorrhea | |
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Interacting proteins (from Reactome)
0 s.
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