ENSG00000076003
Homo sapiens | |
Features
| Gene ID: | ENSG00000076003 | | | | | Biological name : | MCM6 | | | | | Synonyms : | MCM6 / minichromosome maintenance complex component 6 / Q14566 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 2 | | Strand: | -1 | | Band: | q21.3 | | Gene start: | 135839626 | | Gene end: | 135876426 | | | | | Corresponding Affymetrix probe sets: | 201930_at (Human Genome U133 Plus 2.0 Array) 238977_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000264156
NCBI entrez gene - 4175
See in Manteia.
OMIM - 601806
RefSeq - NM_005915
RefSeq Peptide - NP_005906
swissprot - Q14566
Ensembl - ENSG00000076003
| | | | | Related genetic diseases (OMIM): | 223100 - Lactase persistence/nonpersistence, 223100 |
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)
No match
Protein motifs (from Interpro)
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: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:0001939 | Metabolism abnormality | |
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| | HP:0002014 | Diarrhea | |
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| | HP:0002027 | Abdominal pain | |
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| | HP:0004789 | Lactose intolerance | |
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| | HP:0025130 | Decreased small intestinal mucosa lactase activity | "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges." [] |
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Interacting proteins (from Reactome)
| ENSG00000104738 | MCM4 / P33991 / minichromosome maintenance complex component 4 | / complex | | ENSG00000166508 | MCM7 / P33993 / minichromosome maintenance complex component 7 | / complex |
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