ENSG00000188157
Homo sapiens | |
Features
| Gene ID: | ENSG00000188157 | | | | | Biological name : | AGRN | | | | | Synonyms : | agrin / AGRN / O00468 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | p36.33 | | Gene start: | 1020123 | | Gene end: | 1056118 | | | | | Corresponding Affymetrix probe sets: | 212283_at (Human Genome U133 Plus 2.0 Array) 212285_s_at (Human Genome U133 Plus 2.0 Array) 217410_at (Human Genome U133 Plus 2.0 Array) 217419_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000484607
Ensembl peptide - ENSP00000492725
Ensembl peptide - ENSP00000368678
Ensembl peptide - ENSP00000400771
NCBI entrez gene - 375790
See in Manteia.
OMIM - 103320
RefSeq - XM_011541429
RefSeq - NM_001305275
RefSeq - NM_198576
RefSeq - XM_005244749
RefSeq Peptide - NP_001292204
RefSeq Peptide - NP_940978
swissprot - A0A087X208
swissprot - A0A1W2PRQ9
swissprot - H0Y5U1
swissprot - O00468
Ensembl - ENSG00000188157
| | | | | Related genetic diseases (OMIM): | 615120 - Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 |
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:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| | HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| | HP:0000774 | Narrow chest | |
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| | HP:0002093 | Respiratory insufficiency | |
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| | HP:0003388 | Easy fatigability | |
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| | HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| | HP:0003828 | Variable expressivity | |
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| | HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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Interacting proteins (from Reactome)
| ENSG00000030304 | MUSK / O15146 / muscle associated receptor tyrosine kinase | / reaction / complex | | ENSG00000138448 | ITGAV / P06756 / integrin subunit alpha V | / complex / reaction | | ENSG00000105426 | PTPRS / Q13332 / protein tyrosine phosphatase, receptor type S | / complex / reaction | | ENSG00000173402 | DAG1 / Q14118 / dystroglycan 1 | / complex / reaction | | ENSG00000150093 | ITGB1 / P05556 / integrin subunit beta 1 | / complex / reaction | | ENSG00000149294 | NCAM1 / P13591 / neural cell adhesion molecule 1 | / complex / reaction | | ENSG00000142192 | APP / P05067 / amyloid beta precursor protein | / reaction / complex | | ENSG00000134569 | LRP4 / O75096 / LDL receptor related protein 4 | / reaction / complex |
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