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Gene : MAK Homo sapiens

Name  ? male germ cell associated kinase Cytological Location  6p24.2
Brief Description  male germ cell associated kinase
description  The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
  • synonyms:
  • HGNC:6816,
  • RP62,
  • OTTHUMG00000014247,
  • uc003mzm.4,
  • dJ417M14.2,
  • male germ cell-associated kinase,
  • NM_005906,
  • MAK,
  • RP62
  • identifiers:
  • 4117,
  • ENSG00000111837,
  • MAK

Genome feature

Region: gene ? Length: 76232  
Location: 6:10762723-10838954 reverse strand Cyto location: 6p24.2


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Function

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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

25 SN Ps

5 Cross References

17 Data Sets

26 Homologues

0 Located Features

90 Rna Seq Results