ENSG00000196352
Homo sapiens | |
Features
| Gene ID: | ENSG00000196352 | | | | | Biological name : | CD55 | | | | | Synonyms : | CD55 / CD55 molecule (Cromer blood group) / P08174 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | q32.2 | | Gene start: | 207321376 | | Gene end: | 207386804 | | | | | Corresponding Affymetrix probe sets: | 1555950_a_at (Human Genome U133 Plus 2.0 Array) 1556107_at (Human Genome U133 Plus 2.0 Array) 201925_s_at (Human Genome U133 Plus 2.0 Array) 201926_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000495069
Ensembl peptide - ENSP00000495477
Ensembl peptide - ENSP00000496251
Ensembl peptide - ENSP00000495518
Ensembl peptide - ENSP00000316333
Ensembl peptide - ENSP00000340631
Ensembl peptide - ENSP00000356030
Ensembl peptide - ENSP00000356031
Ensembl peptide - ENSP00000356034
Ensembl peptide - ENSP00000375788
Ensembl peptide - ENSP00000493859
NCBI entrez gene - 1604
See in Manteia.
OMIM - 125240
RefSeq - XM_017000467
RefSeq - NM_000574
RefSeq - NM_001114752
RefSeq - NM_001300902
RefSeq - NM_001300903
RefSeq - NM_001300904
RefSeq Peptide - NP_001287833
RefSeq Peptide - NP_000565
RefSeq Peptide - NP_001108224
RefSeq Peptide - NP_001287831
RefSeq Peptide - NP_001287832
swissprot - B1AP13
swissprot - P08174
swissprot - B1AP15
swissprot - H3BLV0
swissprot - H7BY55
Ensembl - ENSG00000196352
| | | | | Related genetic diseases (OMIM): | 226300 - Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 | | | 613793 - [Blood group Cromer], 613793 |
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: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:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| | HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
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| | HP:0001510 | Growth retardation | |
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| | HP:0001541 | Ascites | |
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| | HP:0001891 | Iron deficiency anemia | |
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| | HP:0002014 | Diarrhea | |
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| | HP:0002027 | Abdominal pain | |
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| | HP:0002242 | Abnormality of the intestines | |
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| | HP:0002639 | Budd-Chiari syndrome | |
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| | HP:0003075 | Hypoproteinemia | |
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Interacting proteins (from Reactome)
| ENSG00000125730 | C3 / P01024 / complement C3 | / complex / reaction | | ENSG00000166278 | C2 / P06681 / complement C2 | / reaction / complex | | ENSG00000123146 | ADGRE5 / P48960 / adhesion G protein-coupled receptor E5 | / reaction / complex | | ENSG00000244731 | C4A / P0C0L4 / complement C4A (Rodgers blood group) | / complex / reaction | | ENSG00000224389 | C4B / P0C0L5 / complement C4B (Chido blood group) | / complex / reaction | | ENSG00000196352 | CD55 / P08174 / CD55 molecule (Cromer blood group) | / reaction | | ENSG00000243649 | CFB / P00751 / complement factor B | / complex / reaction |
1 s.
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