AutismKB 2.0

Evidence Details for MAP2


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Basic Information Top
Gene Symbol:MAP2 ( DKFZp686I2148,MAP2A,MAP2B,MAP2C )
Gene Full Name: microtubule-associated protein 2
Band: 2q34
Quick LinksEntrez ID:4133; OMIM: 157130; Uniprot ID:MAP2_HUMAN; ENSEMBL ID: ENSG00000078018; HGNC ID: 6839
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAP2|4133|nucleotide
ATGGCAGATGAACGGAAAGATGAAGCAAAGGCACCTCACTGGACCTCAGCACCGCTAACAGAGGCATCTGCACACTCACATCCACCTGAGATTAAGGATCAAGGC
GGAGCAGGGGAAGGACTTGTCCGAAGCGCCAATGGATTCCCATACAGGGAGGATGAAGAGGGTGCCTTTGGAGAGCATGGGTCACAGGGCACCTATTCAAATACC
AAAGAGAATGGGATCAACGGAGAGCTGACCTCAGCTGACAGAGAAACAGCAGAGGAGGTGTCTGCAAGGATAGTTCAAGTAGTCACTGCTGAGGCTGTAGCAGTC
CTGAAAGGTGAACAAGAGAAAGAAGCTCAACATAAAGACCAGACTGCAGCTCTGCCTTTAGCAGCTGAAGAAACAGCTAATCTGCCTCCTTCTCCACCCCCATCA
CCTGCCTCAGAACAGACTGTCACAGTGGAGGAAGCAGCAGGTGGGGAATCAGCTCTGGCTCCCAGTGTATTTAAACAGGCAAAGGACAAAGTCTCTAATTCTACC
TTGTCAAAGATTCCTGCTTTACAGGGTAGCACAAAGTCCCCAAGATACAGCTCAGCCTGCCCTAGCACGACTAAAAGGGCTACATTTTCTGACAGTTTATTAATA
CAGCCCACCTCAGCAGGCTCCACAGACCGTTTGCCATACTCAAAATCAGGGAACAAGGACGGAGTAACCAAGAGCCCAGAAAAGCGCTCTTCTCTCCCAAGACCT
TCCTCCATTCTCCCTCCTCGGCGAGGTGTGTCAGGAGACAGAGATGAGAATTCCTTCTCTCTCAACAGTTCTATCTCTTCTTCAGCACGGCGGACCACCAGGTCA
GAGCCAATTCGCAGAGCAGGGAAGAGTGGTACCTCAACACCCACTACCCCTGGGTCTACTGCCATCACTCCTGGCACCCCACCAAGTTATTCTTCACGCACACCA
GGCACTCCTGGAACCCCTAGCTATCCCAGGACCCCTCACACACCAGGAACCCCCAAGTCTGCCATCTTGGTGCCGAGTGAGAAGAAGGTCGCCATCATACGTACT
CCTCCAAAATCTCCTGCGACTCCCAAGCAGCTTCGGCTTATTAACCAACCACTGCCAGACCTGAAGAATGTCAAATCCAAAATCGGATCAACAGACAACATCAAA
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>MAP2|4133|protein
MADERKDEAKAPHWTSAPLTEASAHSHPPEIKDQGGAGEGLVRSANGFPYREDEEGAFGEHGSQGTYSNTKENGINGELTSADRETAEEVSARIVQVVTAEAVAV
LKGEQEKEAQHKDQTAALPLAAEETANLPPSPPPSPASEQTVTVEEAAGGESALAPSVFKQAKDKVSNSTLSKIPALQGSTKSPRYSSACPSTTKRATFSDSLLI
QPTSAGSTDRLPYSKSGNKDGVTKSPEKRSSLPRPSSILPPRRGVSGDRDENSFSLNSSISSSARRTTRSEPIRRAGKSGTSTPTTPGSTAITPGTPPSYSSRTP
GTPGTPSYPRTPHTPGTPKSAILVPSEKKVAIIRTPPKSPATPKQLRLINQPLPDLKNVKSKIGSTDNIKYQPKGGQVRILNKKIDFSKVQSRCGSKDNIKHSAG
GGNVQIVTKKIDLSHVTSKCGSLKNIRHRPGGGRVKIESVKLDFKEKAQAKVGSLDNAHHVPGGGNVKIDSQKLNFREHAKARVDHGAEIITQSPGRSSVASPRR
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Jang DH, 2015 - aCGH--autistic - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018