ENSG00000143631
Homo sapiens | |
Features
| Gene ID: | ENSG00000143631 | | | | | Biological name : | FLG | | | | | Synonyms : | filaggrin / FLG / P20930 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | q21.3 | | Gene start: | 152302175 | | Gene end: | 152325203 | | | | | Corresponding Affymetrix probe sets: | 215704_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000357789
NCBI entrez gene - 2312
See in Manteia.
OMIM - 135940
RefSeq - NM_002016
RefSeq Peptide - NP_002007
swissprot - P20930
Ensembl - ENSG00000143631
| | | | | Related genetic diseases (OMIM): | 146700 - Ichthyosis vulgaris, 146700 | | | 605803 - {Dermatitis, atopic, susceptibility to, 2}, 605803 |
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] |
Show
| | HP:0000976 | Eczematoid dermatitis | |
Show
| | HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
Show
| | HP:0008064 | Ichthyosiform abnormality of the skin | |
Show
|
Interacting proteins (from Reactome)
0 s.
|
