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MAK (male germ cell associated kinase)

Identity

Alias_namesmale germ cell-associated kinase
Alias_symbol (synonym)dJ417M14.2
RP62
Other alias
HGNC (Hugo) MAK
LocusID (NCBI) 4117
Atlas_Id 43340
Location 6p24.2  [Link to chromosome band 6p24]
Location_base_pair Starts at 10762723 and ends at 10830877 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MAK (6p24.2) / ELOVL2 (6p24.2)TFAP2A (6p24.3) / MAK (6p24.2)MAK 6p24.2 / ELOVL2 6p24.2
TFAP2A 6p24.3 / MAK 6p24.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  MAK/ELOVL2 (6p24)
TFAP2A/MAK (6p24)


External links

Nomenclature
HGNC (Hugo)MAK   6816
Cards
Entrez_Gene (NCBI)MAK  4117  male germ cell associated kinase
AliasesRP62
GeneCards (Weizmann)MAK
Ensembl hg19 (Hinxton)ENSG00000111837 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111837 [Gene_View]  ENSG00000111837 [Sequence]  chr6:10762723-10830877 [Contig_View]  MAK [Vega]
ICGC DataPortalENSG00000111837
TCGA cBioPortalMAK
AceView (NCBI)MAK
Genatlas (Paris)MAK
WikiGenes4117
SOURCE (Princeton)MAK
Genetics Home Reference (NIH)MAK
Genomic and cartography
GoldenPath hg38 (UCSC)MAK  -     chr6:10762723-10830877 -  6p24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAK  -     6p24.2   [Description]    (hg19-Feb_2009)
EnsemblMAK - 6p24.2 [CytoView hg19]  MAK - 6p24.2 [CytoView hg38]
Mapping of homologs : NCBIMAK [Mapview hg19]  MAK [Mapview hg38]
OMIM154235   614181   
Gene and transcription
Genbank (Entrez)AB593146 AF505623 AK097831 AK310329 AK314408
RefSeq transcript (Entrez)NM_001242385 NM_001242957 NM_005906
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAK
Cluster EST : UnigeneHs.446125 [ NCBI ]
CGAP (NCI)Hs.446125
Alternative Splicing GalleryENSG00000111837
Gene ExpressionMAK [ NCBI-GEO ]   MAK [ EBI - ARRAY_EXPRESS ]   MAK [ SEEK ]   MAK [ MEM ]
Gene Expression Viewer (FireBrowse)MAK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4117
GTEX Portal (Tissue expression)MAK
Human Protein AtlasENSG00000111837-MAK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20794   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20794  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20794
Splice isoforms : SwissVarP20794
PhosPhoSitePlusP20794
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)MAK
DMDM Disease mutations4117
Blocks (Seattle)MAK
SuperfamilyP20794
Human Protein Atlas [tissue]ENSG00000111837-MAK [tissue]
Peptide AtlasP20794
HPRD01101
IPIIPI00025489   IPI01012634   IPI01011223   
Protein Interaction databases
DIP (DOE-UCLA)P20794
IntAct (EBI)P20794
FunCoupENSG00000111837
BioGRIDMAK
STRING (EMBL)MAK
ZODIACMAK
Ontologies - Pathways
QuickGOP20794
Ontology : AmiGOphotoreceptor outer segment  photoreceptor inner segment  transcription coactivator activity  protein kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleus  cytoplasm  centrosome  cilium  axoneme  protein phosphorylation  multicellular organism development  spermatogenesis  regulation of gene expression  cell differentiation  midbody  motile cilium  photoreceptor connecting cilium  intracellular signal transduction  intraciliary transport  photoreceptor cell maintenance  protein autophosphorylation  metal ion binding  cilium assembly  mitotic spindle  negative regulation of non-motile cilium assembly  positive regulation of nucleic acid-templated transcription  
Ontology : EGO-EBIphotoreceptor outer segment  photoreceptor inner segment  transcription coactivator activity  protein kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleus  cytoplasm  centrosome  cilium  axoneme  protein phosphorylation  multicellular organism development  spermatogenesis  regulation of gene expression  cell differentiation  midbody  motile cilium  photoreceptor connecting cilium  intracellular signal transduction  intraciliary transport  photoreceptor cell maintenance  protein autophosphorylation  metal ion binding  cilium assembly  mitotic spindle  negative regulation of non-motile cilium assembly  positive regulation of nucleic acid-templated transcription  
NDEx NetworkMAK
Atlas of Cancer Signalling NetworkMAK
Wikipedia pathwaysMAK
Orthology - Evolution
OrthoDB4117
GeneTree (enSembl)ENSG00000111837
Phylogenetic Trees/Animal Genes : TreeFamMAK
HOVERGENP20794
HOGENOMP20794
Homologs : HomoloGeneMAK
Homology/Alignments : Family Browser (UCSC)MAK
Gene fusions - Rearrangements
Fusion : MitelmanMAK/ELOVL2 [6p24.2/6p24.2]  
Fusion : MitelmanTFAP2A/MAK [6p24.3/6p24.2]  [t(6;6)(p24;p24)]  
Fusion PortalMAK 6p24.2 ELOVL2 6p24.2 BRCA
Fusion PortalTFAP2A 6p24.3 MAK 6p24.2 BRCA
Fusion : QuiverMAK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAK
dbVarMAK
ClinVarMAK
1000_GenomesMAK 
Exome Variant ServerMAK
ExAC (Exome Aggregation Consortium)ENSG00000111837
GNOMAD BrowserENSG00000111837
Varsome BrowserMAK
Genetic variants : HAPMAP4117
Genomic Variants (DGV)MAK [DGVbeta]
DECIPHERMAK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAK 
Mutations
ICGC Data PortalMAK 
TCGA Data PortalMAK 
Broad Tumor PortalMAK
OASIS PortalMAK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAK
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch MAK
DgiDB (Drug Gene Interaction Database)MAK
DoCM (Curated mutations)MAK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAK (select a term)
intoGenMAK
Cancer3DMAK(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154235    614181   
Orphanet659   
DisGeNETMAK
MedgenMAK
Genetic Testing Registry MAK
NextProtP20794 [Medical]
TSGene4117
GENETestsMAK
Target ValidationMAK
Huge Navigator MAK [HugePedia]
snp3D : Map Gene to Disease4117
BioCentury BCIQMAK
ClinGenMAK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4117
Chemical/Pharm GKB GenePA30564
Clinical trialMAK
Miscellaneous
canSAR (ICR)MAK (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAK
EVEXMAK
GoPubMedMAK
iHOPMAK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:18:36 CET 2018

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