ENSG00000114738
 Homo sapiens | |
Features
Gene ID: | ENSG00000114738 | | | Biological name : | MAPKAPK3 | | | Synonyms : | MAPKAPK3 / mitogen-activated protein kinase-activated protein kinase 3 / Q16644 | | | Possible biological names infered from orthology : | | | | Species: | Homo sapiens | | | Chr. number: | 3 | Strand: | 1 | Band: | p21.2 | Gene start: | 50611520 | Gene end: | 50649297 | | | Corresponding Affymetrix probe sets: | 202787_s_at (Human Genome U133 Plus 2.0 Array) 202788_at (Human Genome U133 Plus 2.0 Array) | | | Cross references: | Ensembl peptide - ENSP00000410970 Ensembl peptide - ENSP00000394894 Ensembl peptide - ENSP00000478922 Ensembl peptide - ENSP00000396467 Ensembl peptide - ENSP00000402045 Ensembl peptide - ENSP00000350639 NCBI entrez gene - 7867
See in Manteia.
OMIM - 602130 RefSeq - NM_004635 RefSeq - NM_001243925 RefSeq - NM_001243926 RefSeq Peptide - NP_001230854 RefSeq Peptide - NP_001230855 RefSeq Peptide - NP_004626 swissprot - Q16644 swissprot - C9J8E1 swissprot - A0A024R2W7 swissprot - H7C0G6 swissprot - C9JPW3 Ensembl - ENSG00000114738
| | | Related genetic diseases (OMIM): | 617111 - ?Macular dystrophy, patterned, 3, 617111 | 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)
P49137 / MAPKAPK2 / mitogen-activated protein kinase-activated protein kinase 2 | ENSG00000162889 | 68 | Q8IW41 / MAPKAPK5 / mitogen-activated protein kinase-activated protein kinase 5 | ENSG00000089022 | 40 | MKNK2 / Q9HBH9 / MAP kinase interacting serine/threonine kinase 2 | ENSG00000099875 | 31 | MKNK1 / Q9BUB5 / MAP kinase interacting serine/threonine kinase 1 | ENSG00000079277 | 30 |
Protein motifs (from Interpro)
IPR000719 | Protein kinase domain | IPR008271 | Serine/threonine-protein kinase, active site | IPR011009 | Protein kinase-like domain superfamily | IPR017441 | Protein kinase, ATP binding site | IPR027442 | MAP kinase activated protein kinase, 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:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0007663 | Decreased central vision | |
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Interacting proteins (from Reactome)
ENSG00000112062 | MAPK14 / Q16539 / mitogen-activated protein kinase 14 | / complex / reaction | ENSG00000034152 | MAP2K3 / P46734 / mitogen-activated protein kinase kinase 3 | / reaction | ENSG00000185386 | MAPK11 / Q15759 / mitogen-activated protein kinase 11 | / complex / reaction | ENSG00000132475 | H3F3B / P84243 / H3 histone family member 3B | / reaction | ENSG00000183598 | Q71DI3 / HIST2H3D / histone cluster 2 H3 family member d | / reaction | ENSG00000276180 | P62805 / HIST1H4I / histone cluster 1 H4 family member i | / reaction | ENSG00000275714 | P68431 / HIST1H3A / histone cluster 1 H3 family member a | / reaction | ENSG00000108984 | MAP2K6 / P52564 / mitogen-activated protein kinase kinase 6 | / reaction |
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