Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEUROCARDIOFACIODIGITAL SYNDROME | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEUROCARDIOFACIODIGITAL SYNDROME | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | MAPKAP kinases - MKs - two's company, three's a crowd. | Gaestel M Nat Rev Mol Cell Biol. 2006 Feb;7(2):120-30. |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8636128 | PMID:9468497 | PMID:9480836 | PMID:9628874 | PMID:10708586 | PMID:10978313 | PMID:10978317 | PMID:12117915 | PMID:12130507 | PMID:12171600 | PMID:12477932 | PMID:12808055 |
PMID:14702039 | PMID:15489334 | PMID:17254968 | PMID:18029348 | PMID:18720373 | PMID:19166925 | PMID:19473979 | PMID:19484198 | PMID:19953087 | PMID:20849292 | PMID:20936779 | PMID:21177870 |
PMID:21329882 | PMID:21336308 | PMID:21531765 | PMID:21575178 | PMID:21675959 | PMID:21873635 | PMID:21900206 | PMID:21988832 | PMID:22279049 | PMID:23022185 | PMID:23602568 | PMID:23685072 |
PMID:24309468 | PMID:24651460 | PMID:25241761 | PMID:25383140 | PMID:25416956 | PMID:26080319 | PMID:26758977 | PMID:26972000 | PMID:28089446 | PMID:28514442 | PMID:28941148 | PMID:29987050 |
PMID:30021884 | PMID:31578200 | PMID:31694235 | PMID:32296183 | PMID:32393512 | PMID:32694731 | PMID:32707033 | PMID:33442026 | PMID:33961781 | PMID:34315543 | PMID:35064619 | PMID:35216969 |
PMID:35256949 | PMID:35439318 | PMID:35468721 | PMID:35575217 | PMID:35748872 | PMID:35844789 | PMID:35944360 | PMID:36581449 | PMID:36736316 | PMID:38113892 |
MAPKAPK5 (Homo sapiens - human) |
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Mapkapk5 (Mus musculus - house mouse) |
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Mapkapk5 (Rattus norvegicus - Norway rat) |
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Mapkapk5 (Chinchilla lanigera - long-tailed chinchilla) |
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MAPKAPK5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MAPKAPK5 (Canis lupus familiaris - dog) |
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Mapkapk5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MAPKAPK5 (Sus scrofa - pig) |
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MAPKAPK5 (Chlorocebus sabaeus - green monkey) |
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Mapkapk5 (Heterocephalus glaber - naked mole-rat) |
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Variants in MAPKAPK5
23 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 | copy number loss | See cases [RCV000050807] | Chr12:105234677..112194686 [GRCh38] Chr12:105628455..112632490 [GRCh37] Chr12:104152585..111116873 [NCBI36] Chr12:12q23.3-24.13 |
pathogenic |
GRCh38/hg38 12q24.12(chr12:111724654-111867329)x3 | copy number gain | See cases [RCV000136802] | Chr12:111724654..111867329 [GRCh38] Chr12:112162458..112305133 [GRCh37] Chr12:110646841..110789516 [NCBI36] Chr12:12q24.12 |
benign |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12q24.12-24.13(chr12:112194796-112304163)x3 | copy number gain | See cases [RCV000447646] | Chr12:112194796..112304163 [GRCh37] Chr12:12q24.12-24.13 |
benign|likely benign |
GRCh37/hg19 12q24.12-24.13(chr12:112183921-112318246) | copy number gain | Abnormal esophagus morphology [RCV000416686] | Chr12:112183921..112318246 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112183225-112327166) | copy number gain | Abnormal esophagus morphology [RCV000416877] | Chr12:112183225..112327166 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q24.12-24.13(chr12:112195275-112304353)x3 | copy number gain | not provided [RCV000738050] | Chr12:112195275..112304353 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112195275-112321569)x3 | copy number gain | not provided [RCV000738051] | Chr12:112195275..112321569 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112199080-112304353)x3 | copy number gain | not provided [RCV000738052] | Chr12:112199080..112304353 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12(chr12:112206895-112298257)x3 | copy number gain | not provided [RCV000738053] | Chr12:112206895..112298257 [GRCh37] Chr12:12q24.12 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112206895-112304353)x3 | copy number gain | not provided [RCV000738054] | Chr12:112206895..112304353 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112206895-112336694)x3 | copy number gain | not provided [RCV000738055] | Chr12:112206895..112336694 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112182465-112304353)x3 | copy number gain | not provided [RCV000750577] | Chr12:112182465..112304353 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112182465-112308111)x3 | copy number gain | not provided [RCV000750578] | Chr12:112182465..112308111 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12(chr12:112186274-112298257)x3 | copy number gain | not provided [RCV000750579] | Chr12:112186274..112298257 [GRCh37] Chr12:12q24.12 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112186274-112304353)x3 | copy number gain | not provided [RCV000750580] | Chr12:112186274..112304353 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12-24.13(chr12:112186274-112321569)x3 | copy number gain | not provided [RCV000750581] | Chr12:112186274..112321569 [GRCh37] Chr12:12q24.12-24.13 |
benign |
GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3 | copy number gain | not provided [RCV000762701] | Chr12:111861041..112280895 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.501G>C (p.Leu167Phe) | single nucleotide variant | Inborn genetic diseases [RCV003251021] | Chr12:111871102 [GRCh38] Chr12:112308906 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.207_208dup (p.Ala70fs) | microsatellite | Neurocardiofaciodigital syndrome [RCV002248407] | Chr12:111867587..111867588 [GRCh38] Chr12:112305391..112305392 [GRCh37] Chr12:12q24.12 |
pathogenic |
NM_003668.4(MAPKAPK5):c.1077dup (p.Leu360fs) | duplication | Neurocardiofaciodigital syndrome [RCV002248408] | Chr12:111888593..111888594 [GRCh38] Chr12:112326397..112326398 [GRCh37] Chr12:12q24.12 |
pathogenic |
NM_003668.4(MAPKAPK5):c.1405G>A (p.Glu469Lys) | single nucleotide variant | not provided [RCV003129510] | Chr12:111893050 [GRCh38] Chr12:112330854 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.590C>T (p.Ala197Val) | single nucleotide variant | Syndromic disease [RCV002273239] | Chr12:111880457 [GRCh38] Chr12:112318261 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.1017C>G (p.Asn339Lys) | single nucleotide variant | not provided [RCV003129513] | Chr12:111888535 [GRCh38] Chr12:112326339 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.1324C>T (p.Arg442Cys) | single nucleotide variant | Inborn genetic diseases [RCV002905389] | Chr12:111892969 [GRCh38] Chr12:112330773 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.17A>G (p.Asp6Gly) | single nucleotide variant | Inborn genetic diseases [RCV002860000] | Chr12:111842750 [GRCh38] Chr12:112280554 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.445C>T (p.Leu149Phe) | single nucleotide variant | Inborn genetic diseases [RCV002798808] | Chr12:111870322 [GRCh38] Chr12:112308126 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.410G>A (p.Arg137Gln) | single nucleotide variant | Inborn genetic diseases [RCV002915190] | Chr12:111870287 [GRCh38] Chr12:112308091 [GRCh37] Chr12:12q24.12 |
likely benign |
NM_003668.4(MAPKAPK5):c.1150G>A (p.Glu384Lys) | single nucleotide variant | Inborn genetic diseases [RCV003003975] | Chr12:111888934 [GRCh38] Chr12:112326738 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.638C>T (p.Pro213Leu) | single nucleotide variant | Inborn genetic diseases [RCV002789163] | Chr12:111880505 [GRCh38] Chr12:112318309 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.172A>C (p.Lys58Gln) | single nucleotide variant | Inborn genetic diseases [RCV002920890] | Chr12:111866217 [GRCh38] Chr12:112304021 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.139C>T (p.Arg47Trp) | single nucleotide variant | Inborn genetic diseases [RCV002965344] | Chr12:111866184 [GRCh38] Chr12:112303988 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.31A>G (p.Ile11Val) | single nucleotide variant | Inborn genetic diseases [RCV002959841] | Chr12:111842764 [GRCh38] Chr12:112280568 [GRCh37] Chr12:12q24.12 |
uncertain significance |
NM_003668.4(MAPKAPK5):c.1180C>T (p.Arg394Ter) | single nucleotide variant | Neurocardiofaciodigital syndrome [RCV003228821] | Chr12:111888964 [GRCh38] Chr12:112326768 [GRCh37] Chr12:12q24.12 |
pathogenic |
NM_003668.4(MAPKAPK5):c.320G>T (p.Gly107Val) | single nucleotide variant | Neurocardiofaciodigital syndrome [RCV003228824] | Chr12:111868788 [GRCh38] Chr12:112306592 [GRCh37] Chr12:12q24.12 |
pathogenic |
NM_003668.4(MAPKAPK5):c.671del (p.Leu224fs) | deletion | Neurocardiofaciodigital syndrome [RCV003228822] | Chr12:111883590 [GRCh38] Chr12:112321394 [GRCh37] Chr12:12q24.12 |
pathogenic |
NM_003668.4(MAPKAPK5):c.1303C>T (p.Gln435Ter) | single nucleotide variant | Neurocardiofaciodigital syndrome [RCV003228823] | Chr12:111890126 [GRCh38] Chr12:112327930 [GRCh37] Chr12:12q24.12 |
pathogenic |
NM_003668.4(MAPKAPK5):c.1005A>C (p.Glu335Asp) | single nucleotide variant | Inborn genetic diseases [RCV003343145] | Chr12:111888523 [GRCh38] Chr12:112326327 [GRCh37] Chr12:12q24.12 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D12S1333 |
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RH17458 |
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MAPKAPK5_8828 |
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A009W37 |
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G32924 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 624 | 417 | 670 | 95 | 640 | 79 | 2011 | 142 | 1169 | 213 | 884 | 1084 | 20 | 198 | 1277 | 3 | ||
Low | 1815 | 2508 | 1056 | 529 | 1251 | 386 | 2345 | 2049 | 2565 | 206 | 576 | 529 | 155 | 1 | 1006 | 1511 | 2 | 2 |
Below cutoff | 66 | 60 | 6 |
RefSeq Transcripts | NM_001371479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001371480 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371486 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_139078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC003029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF032437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK122767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL110301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW780199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC041049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC047284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG502445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT584772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000546394 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000547067 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000547305 ⟹ ENSP00000473541 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000547915 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000549875 ⟹ ENSP00000473467 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000550735 ⟹ ENSP00000449667 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000551404 ⟹ ENSP00000449381 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000552111 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000553053 ⟹ ENSP00000448408 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000602983 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001371479 ⟹ NP_001358408 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371480 ⟹ NP_001358409 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371481 ⟹ NP_001358410 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371482 ⟹ NP_001358411 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371483 ⟹ NP_001358412 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371484 ⟹ NP_001358413 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371485 ⟹ NP_001358414 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371486 ⟹ NP_001358415 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371487 ⟹ NP_001358416 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_003668 ⟹ NP_003659 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_139078 ⟹ NP_620777 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001358408 | (Get FASTA) | NCBI Sequence Viewer |
NP_001358409 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358410 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358411 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358412 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358413 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358414 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358415 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358416 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003659 | (Get FASTA) | NCBI Sequence Viewer | |
NP_620777 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC39863 | (Get FASTA) | NCBI Sequence Viewer |
AAH00833 | (Get FASTA) | NCBI Sequence Viewer | |
AAH41049 | (Get FASTA) | NCBI Sequence Viewer | |
AAH47284 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53717 | (Get FASTA) | NCBI Sequence Viewer | |
CAB53747 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97979 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97980 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97981 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000448408.2 | ||
ENSP00000449381 | |||
ENSP00000449381.2 | |||
ENSP00000449667 | |||
ENSP00000449667.2 | |||
ENSP00000473467 | |||
ENSP00000473467.1 | |||
ENSP00000473541.1 | |||
GenBank Protein | Q8IW41 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_620777 ⟸ NM_139078 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9BVX9 (UniProtKB/Swiss-Prot), Q86X46 (UniProtKB/Swiss-Prot), O60491 (UniProtKB/Swiss-Prot), B3KVA5 (UniProtKB/Swiss-Prot), Q9UG86 (UniProtKB/Swiss-Prot), Q8IW41 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_003659 ⟸ NM_003668 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8IW41 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001358408 ⟸ NM_001371479 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001358409 ⟸ NM_001371480 |
- Peptide Label: | isoform 4 |
RefSeq Acc Id: | NP_001358410 ⟸ NM_001371481 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001358411 ⟸ NM_001371482 |
- Peptide Label: | isoform 6 |
RefSeq Acc Id: | NP_001358412 ⟸ NM_001371483 |
- Peptide Label: | isoform 7 |
RefSeq Acc Id: | NP_001358413 ⟸ NM_001371484 |
- Peptide Label: | isoform 8 |
RefSeq Acc Id: | NP_001358414 ⟸ NM_001371485 |
- Peptide Label: | isoform 9 |
RefSeq Acc Id: | NP_001358415 ⟸ NM_001371486 |
- Peptide Label: | isoform 10 |
RefSeq Acc Id: | NP_001358416 ⟸ NM_001371487 |
- Peptide Label: | isoform 11 |
- UniProtKB: | R4GN33 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000473541 ⟸ ENST00000547305 |
RefSeq Acc Id: | ENSP00000473467 ⟸ ENST00000549875 |
RefSeq Acc Id: | ENSP00000449667 ⟸ ENST00000550735 |
RefSeq Acc Id: | ENSP00000449381 ⟸ ENST00000551404 |
RefSeq Acc Id: | ENSP00000448408 ⟸ ENST00000553053 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8IW41-F1-model_v2 | AlphaFold | Q8IW41 | 1-473 | view protein structure |
RGD ID: | 7225439 | ||||||||
Promoter ID: | EPDNEW_H18465 | ||||||||
Type: | initiation region | ||||||||
Name: | MAPKAPK5_2 | ||||||||
Description: | mitogen-activated protein kinase-activated protein kinase 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18466 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7225441 | ||||||||
Promoter ID: | EPDNEW_H18466 | ||||||||
Type: | initiation region | ||||||||
Name: | MAPKAPK5_1 | ||||||||
Description: | mitogen-activated protein kinase-activated protein kinase 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18465 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:6889 | AgrOrtholog |
COSMIC | MAPKAPK5 | COSMIC |
Ensembl Genes | ENSG00000089022 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000547305.1 | UniProtKB/TrEMBL |
ENST00000549875 | ENTREZGENE | |
ENST00000549875.1 | UniProtKB/TrEMBL | |
ENST00000550735 | ENTREZGENE | |
ENST00000550735.7 | UniProtKB/Swiss-Prot | |
ENST00000551404 | ENTREZGENE | |
ENST00000551404.7 | UniProtKB/Swiss-Prot | |
ENST00000553053.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 4.10.1170.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000089022 | GTEx |
HGNC ID | HGNC:6889 | ENTREZGENE |
Human Proteome Map | MAPKAPK5 | Human Proteome Map |
InterPro | Kinase-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MAPKAPK_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_kinase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser/Thr_kinase_AS | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:8550 | UniProtKB/Swiss-Prot |
NCBI Gene | 8550 | ENTREZGENE |
OMIM | 606723 | OMIM |
PANTHER | MAP KINASE-ACTIVATED PROTEIN KINASE 5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SERINE/THREONINE-PROTEIN KINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Pkinase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA30633 | PharmGKB |
PROSITE | PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN_KINASE_ST | UniProtKB/Swiss-Prot | |
SMART | S_TKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF56112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B3KVA5 | ENTREZGENE |
F8VRP2_HUMAN | UniProtKB/TrEMBL | |
MAPK5_HUMAN | UniProtKB/Swiss-Prot | |
O60491 | ENTREZGENE | |
Q86X46 | ENTREZGENE | |
Q8IW41 | ENTREZGENE | |
Q9BVX9 | ENTREZGENE | |
Q9UG86 | ENTREZGENE | |
R4GN33 | ENTREZGENE, UniProtKB/TrEMBL | |
R4GN93_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B3KVA5 | UniProtKB/Swiss-Prot |
O60491 | UniProtKB/Swiss-Prot | |
Q86X46 | UniProtKB/Swiss-Prot | |
Q9BVX9 | UniProtKB/Swiss-Prot | |
Q9UG86 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-04-16 | MAPKAPK5 | MAPK activated protein kinase 5 | MAPKAPK5 | mitogen-activated protein kinase-activated protein kinase 5 | Symbol and/or name change | 5135510 | APPROVED |