ENSG00000009724
Homo sapiens | |
Features
| Gene ID: | ENSG00000009724 | | | | | Biological name : | MASP2 | | | | | Synonyms : | mannan binding lectin serine peptidase 2 / MASP2 / O00187 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p36.22 | | Gene start: | 11026523 | | Gene end: | 11047233 | | | | | Corresponding Affymetrix probe sets: | 207041_at (Human Genome U133 Plus 2.0 Array) 210798_x_at (Human Genome U133 Plus 2.0 Array) 216968_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000383690
Ensembl peptide - ENSP00000383691
NCBI entrez gene - 10747
See in Manteia.
OMIM - 605102
RefSeq - NM_006610
RefSeq - NM_139208
RefSeq Peptide - NP_006601
RefSeq Peptide - NP_631947
swissprot - O00187
Ensembl - ENSG00000009724
| | | | | Related genetic diseases (OMIM): | 613791 - MASP2 deficiency, 613791 |
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)
Gene Ontology (GO)
Pathways (from Reactome)
No match
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:0002725 | Systemic lupus erythematosus | |
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| | HP:0004431 | Complement deficiency | |
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| | HP:0006532 | Pneumonia, recurrent episodes | |
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| | HP:0100279 | Ulcerative colitis | "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn s disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon." [HPO:sdoelken] |
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Interacting proteins (from Reactome)
0 s.
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