ENSG00000132855
Homo sapiens | |
Features
| Gene ID: | ENSG00000132855 | | | | | Biological name : | ANGPTL3 | | | | | Synonyms : | angiopoietin like 3 / ANGPTL3 / Q9Y5C1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | p31.3 | | Gene start: | 62597487 | | Gene end: | 62606159 | | | | | Corresponding Affymetrix probe sets: | 219803_at (Human Genome U133 Plus 2.0 Array) 231684_at (Human Genome U133 Plus 2.0 Array) 243799_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000360170
NCBI entrez gene - 27329
See in Manteia.
OMIM - 604774
RefSeq - NM_014495
RefSeq Peptide - NP_055310
swissprot - Q9Y5C1
Ensembl - ENSG00000132855
| | | | | Related genetic diseases (OMIM): | 605019 - Hypobetalipoproteinemia, familial, 2, 605019 |
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)
| IPR002181 | Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain | | IPR014715 | Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 | | IPR014716 | Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 | | IPR027267 | AH/BAR domain superfamily | | IPR036056 | Fibrinogen-like, C-terminal |
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:0003563 | Hypobetalipoproteinemia | |
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| | HP:0012153 | Hypotriglyceridemia | "An decrease in the level of `triglycerides` (CHEBI:17855) in the `blood` (FMA:9670)." [HPO:probinson] |
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Interacting proteins (from Reactome)
| ENSG00000130173 | Q6UXH0 / ANGPTL8 / angiopoietin like 8 | / complex / reaction |
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