ENSG00000182326
Homo sapiens | |
Features
| Gene ID: | ENSG00000182326 | | | | | Biological name : | C1S | | | | | Synonyms : | C1S / complement C1s / P09871 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | 1 | | Band: | p13.31 | | Gene start: | 6988259 | | Gene end: | 7071032 | | | | | Corresponding Affymetrix probe sets: | 1555229_a_at (Human Genome U133 Plus 2.0 Array) 208747_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000385035
Ensembl peptide - ENSP00000397921
Ensembl peptide - ENSP00000484657
Ensembl peptide - ENSP00000442298
Ensembl peptide - ENSP00000406643
Ensembl peptide - ENSP00000399892
Ensembl peptide - ENSP00000328173
Ensembl peptide - ENSP00000354057
Ensembl peptide - ENSP00000384171
Ensembl peptide - ENSP00000384464
NCBI entrez gene - 716
See in Manteia.
OMIM - 120580
RefSeq - XM_005253760
RefSeq - NM_001346850
RefSeq - NM_001734
RefSeq - NM_201442
RefSeq Peptide - NP_958850
RefSeq Peptide - NP_001333779
RefSeq Peptide - NP_001725
swissprot - P09871
swissprot - C9JY52
swissprot - C9IZP8
swissprot - B5MCV4
swissprot - F5H7T4
swissprot - A0A087X232
swissprot - F8WCZ6
swissprot - H0Y5D1
Ensembl - ENSG00000182326
| | | | | Related genetic diseases (OMIM): | 613783 - C1s deficiency, 613783 | | | 617174 - Ehlers-Danlos syndrome, periodontal type, 2, 617174 |
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)
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:0000212 | Gingival hyperplasia | |
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| | HP:0000225 | Gingival bleeding | |
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| | HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| | HP:0000691 | Microdontia | |
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| | HP:0000704 | Periodontal disease | |
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| | HP:0000872 | Hashimoto thyroiditis | |
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| | HP:0000974 | Hyperextensible skin | |
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| | HP:0000978 | Ecchymoses | |
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| | HP:0001030 | Fragile skin | |
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| | HP:0001034 | Hyperpigmented macules | |
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| | HP:0001075 | Atrophic scars | |
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| | HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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| | HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| | HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| | HP:0002725 | Systemic lupus erythematosus | |
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| | HP:0002829 | Arthralgia | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| | HP:0005339 | Abnormality of complement | |
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| | HP:0005692 | Joint hyperflexibility | |
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| | HP:0006308 | Atrophy of alveolar ridges | |
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| | HP:0006323 | Premature deciduous tooth loss | |
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| | HP:0006349 | Absence of permanent teeth | "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodonita, and adontia of the permanent dentition." [HPO:probinson] |
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| | HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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Interacting proteins (from Reactome)
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