Overview

Variant ID 5215
Entrez Gene ID 4134
Gene MAP4 (GeneCards)
Location hg19 3:47932389-47932389
hg38 3:47890899-47890899
Disease
Method HiSeq X Ten
Mutation(HGVS format) NC_000003.11:g.47932389 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 198022430

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.2305
CADD Raw score (version 1.3) 2.491033 (Deleterious)
FATHMM raw prediction score 0.19714 (Tolerated)
Deleterious probability by DeFine 0.8672 (Deleterious)
Entrez Gene ID 4134 (NCBI Gene)
Official Gene Symbol MAP4 (GeneCards)
Number of variants in MAP4 in this database 5 (view all the variants)
Full name microtubule associated protein 4
Band 3p21.31
Other IDs Vega: OTTHUMG00000156828
OMIM: 157132
HGNC: HGNC:6862
Ensembl: ENSG00000047849
Other names None
Summary The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;