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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAK Gene

protein-coding   GIFtS: 57
GCID: GC06M010820

Male Germ Cell-Associated Kinase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Male Germ Cell-Associated Kinase1 2 3     Male Germ Cell-Associated Kinase Retinal-Enriched Isoform2
EC 2.7.11.223 8     Serine/Threonine Protein Kinase MAK2
RP622     Serine/Threonine-Protein Kinase MAK2
dJ417M14.22     EC 2.7.118

External Ids:    HGNC: 68161   Entrez Gene: 41172   Ensembl: ENSG000001118377   OMIM: 1542355   UniProtKB: P207943   

Export aliases for MAK gene to outside databases

Previous GC identifers: GC06M010870 GC06M010638


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MAK Gene:
The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle
regulation. It is expressed almost exclusively in the testis, primarily in germ cells. 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. There is, however, a study of the mouse
homolog that has identified high levels of expression in developing sensory epithelia so its function may be more
generalized. Three transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2011)

GeneCards Summary for MAK Gene: 
MAK (male germ cell-associated kinase) is a protein-coding gene. Diseases associated with MAK include mak-related retinitis pigmentosa, and rhyns syndrome. GO annotations related to this gene include transcription coactivator activity and cyclin-dependent protein serine/threonine kinase activity. An important paralog of this gene is MOK.

UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
Function: Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors
(By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional
coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability
in prostate cancer cells

Gene Wiki entry for MAK Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAK gene promoter:
         Nkx3-1   AhR   C/EBPbeta   RFX1   AP-1   ATF-2   Nkx3-1 v1   SRY   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAK promoter sequence
   Search SABiosciences Chromatin IP Primers for MAK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p24   Ensembl cytogenetic band:  6p24.2   HGNC cytogenetic band: 6q22

MAK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAK gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M010820:  view genomic region     (about GC identifiers)

Start:
10,762,956 bp from pter      End:
10,838,788 bp from pter
Size:
75,833 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MAK_HUMAN, P20794 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase MAK  
Size: 623 amino acids; 70581 Da
Subunit: Interacts with RP1 (By similarity). Interacts with AR and CDK20. Found in a complex containing MAK, AR
and NCOA3. Interacts with FZR1 (via WD repeats)
Subcellular location: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
cytoskeleton, spindle. Midbody. Cell projection, cilium, photoreceptor outer segment (By similarity).
Photoreceptor inner segment. Note=Localized in both the connecting cilia and the outer segment axonemes (By
similarity). Localized uniformly in nuclei during interphase, to the mitotic spindle and centrosomes during
metaphase and anaphase, and also to midbody at anaphase until telophase
Secondary accessions: F1T0K6 G1FL29 Q547D0 Q9NUH7
Alternative splicing: 3 isoforms:  P20794-1   P20794-2   P20794-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAK: NX_P20794

Explore proteomics data for MAK at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated. Phosphorylated on serine and threonine residues
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20794

  • 4 DME Specific Peptides for MAK (P20794)
     VHGRTDW  PKKRPTA  TRWYRAPE  YSSPIDVWAVG 

    MAK Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAK Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001229314.1  NP_001229886.1  NP_005897.1  

    ENSEMBL proteins: 
     ENSP00000313021   ENSP00000476067   ENSP00000346484   ENSP00000442250   ENSP00000442221  

    Human Recombinant Protein Products for MAK: 
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    Novus Biologicals MAK Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAK 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0001917photoreceptor inner segment IDA--
    GO:0005634nucleus IDA12084720
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA--

    MAK for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MAK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: male germ cell-associated kinase 
    RCK family

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry P20794

    ProtoNet protein and cluster: P20794

    UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
    Similarity: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily
    Similarity: Contains 1 protein kinase domain


    MAK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAK_HUMAN, P20794
    Function: Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors
    (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional
    coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability
    in prostate cancer cells
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Induction: Up-regulated by dihydrotestosterone (DHT) in androgen-sensitive LNCaP prostate cancer cells in a
    dose-dependent manner. Up-regulation by DHT is transient, reaching maximum levels after 24 hours and decreases
    slightly after 48 hours

         Enzyme Numbers (IUBMB): EC 2.7.11.221 2 EC 2.7.112

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA16951154
    GO:0004672protein kinase activity NAS2183027
    GO:0004674protein serine/threonine kinase activity ----
    GO:0004693cyclin-dependent protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    MAK for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAK:
     Decreased 12E8 tau but not tot  Increased cell death HMECs cel 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mak):
     reproductive system 

    MAK for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Maktm1Yshk for MAK

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAK 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MAK

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAK 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAK 

    miRNA
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    hsa-miR-4291 hsa-miR-520d-5p hsa-miR-15a hsa-miR-4272 hsa-miR-1271 hsa-miR-520a-5p hsa-miR-421 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidMAK 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAK


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MAK About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity


    1 BioSystems Pathway for MAK
        Coregulation of Androgen receptor activity


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for MAK (P207941 ENSP000003130214) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102751, ENSP000003638224EBI-3911321,EBI-608057 STRING: ENSP00000363822
    FZR1Q9UM111, ENSP000003785294EBI-3911321,EBI-724997 STRING: ENSP00000378529
    NCOA3ENSP000003610664STRING: ENSP00000361066
    CDK20ENSP000003223434STRING: ENSP00000322343
    CDH1ENSP000002617694STRING: ENSP00000261769
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006468protein phosphorylation NAS--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis NAS2183027

    MAK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAK

    2 HMDB Compounds for MAK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    Search CenterWatch for drugs/clinical trials and news about MAK

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MAK gene (3 alternative transcripts): 
    NM_001242385.1  NM_001242957.1  NM_005906.4  

    Unigene Cluster for MAK:

    Male germ cell-associated kinase
    Hs.446125  [show with all ESTs]
    Unigene Representative Sequence: NM_001242957
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313243(uc010jou.3) ENST00000474039(uc021ylk.1 uc003mzm.3 uc021yll.1)
    ENST00000354489(uc010jot.3) ENST00000538030 ENST00000536370(uc010jov.2 uc021ylm.1)

    miRNA
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    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate MAK (see all 31):
    hsa-miR-4291 hsa-miR-520d-5p hsa-miR-15a hsa-miR-4272 hsa-miR-1271 hsa-miR-520a-5p hsa-miR-421 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidMAK 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for MAK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAK
    Clone
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    GenScript: all cDNA clones in your preferred vector: MAK (NM_005906)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAK
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAK

    Additional mRNA sequence: 

    AB593146.1 AF505623.1 AK097831.1 AK310329.1 AK314408.1 BC033002.1 BC039825.1 JN135248.1 
    JN226411.1 

    9 DOTS entries:

    DT.104633  DT.121397478  DT.95309194  DT.100020488  DT.121397386  DT.307271  DT.121397352  DT.437232 
    DT.40304703 

    24/57 AceView cDNA sequences (see all 57):

    BM702638 BU733728 AK097831 BC039825 BX955062 BM709886 AF505623 BU729587 
    BX105286 BQ639003 BC033002 NM_005906 AW103841 BF508943 BM704130 AI200150 
    BG718521 AI200367 AI868638 BU676653 AI630776 BM978645 BX645973 AI470787 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MAK (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                            -                                   -     -                                             
    SP2:                                            -                                                                                       
    SP3:                                -           -                                                                                       
    SP4:                                                                                                                                    
    SP5:        -                                                                                                                           


    ECgene alternative splicing isoforms for MAK

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAK expression in normal human tissues (normalized intensities)      MAK embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTGACCA
    MAK Expression
    About this image


    MAK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             neutrophils   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   
     
     Testis (Reproductive System)
             sperm   
     
     Lung (Respiratory System)
             bronchoalveolar lavage cells   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See MAK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAK

    SOURCE GeneReport for Unigene cluster: Hs.446125

    UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
    Tissue specificity: Expressed in prostate cancer cell lines at generally higher levels than in normal prostate
    epithelial cell lines. Isoform 1 is expressed in kidney, testis, lung, trachea, and retina. Isoform 2 is
    retina-specific where it is expressed in rod and cone photoreceptors

        SABiosciences Custom PCR Arrays for MAK
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAK
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAK

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAK gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mak1 , 5 male germ cell-associated kinase1, 5 82.61(n)1
    84.54(a)1
      13 (20.25 cM)5
    171521  NM_001145803.11  NP_001139275.11 
     410251205 
    chicken
    (Gallus gallus)
    Aves MAK1 male germ cell-associated kinase 73.36(n)
    73.57(a)
      420859  XM_418948.3  XP_418948.2 
    lizard
    (Anolis carolinensis)
    Reptilia MAK6
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343209.1(2593160-2629247)
    zebrafish
    (Danio rerio)
    Actinopterygii wufj04c022 wufj04c02 76.42(n)   335339  BC052126.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68003 protein amino acid phosphorylation
    protein serine/threonine more
    33(a)   93F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea M04C9.53
    dyf-51
    serine/threonine kinase (CDC2/CDKX
    subfamily)3
    Protein DYF-51
    68(a)
    (best of 2)3
    63.19(n)1
    61.45(a)1
      I(9367904-9370983)3
    1874421  NM_001136314.11  NP_001129786.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IME26
    Serine/threonine protein kinase involved in activa...
    20(a)
    1 → many
    X(221390-223327)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MHK1 serine/threonine-protein kinase MHK 61.29(n)
    56.49(a)
      826915  NM_001203783.1  NP_001190712.1 
    rice
    (Oryza sativa)
    Liliopsida Os.79102 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.14(n)    AK069526.1 


    ENSEMBL Gene Tree for MAK (if available)
    TreeFam Gene Tree for MAK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAK gene
    MOK2  ICK2  
    18/58 SIMAP similar genes for MAK using alignment to 4 protein entries:     MAK_HUMAN (see all proteins) (see all similar genes):
    ICK    CDC2    DKFZp564L2416    CDK1    DKFZp686L20222    CDK3
    CDK5    CDC2L2    CDK11A    CDK15    CDKL3    CDKL1
    CDC2L1    CCRK    CDK11B    DKFZp686D0638    GSK3A    MOK

    MAK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1663 SNPs in MAK are shown (see all 1663)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0669914
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669912 R H mis40--------
    VAR_0669894
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669892 G R mis40--------
    VAR_0669884
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669882 G S mis40--------
    VAR_0420074
    A breast infiltrating ductal carcinoma sample4--see VAR_0420072 R P mis40--------
    VAR_0669924
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669922 I T mis40--------
    VAR_0669904
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669902 N H mis40--------
    VAR_0669934
    ----see VAR_0669932 P L mis40--------
    rs1154508641,2
    C,F--10685990(+) AGGGGC/TAGATG 3 -- ds50011Minor allele frequency- T:0.01WA 118
    rs598334051,2
    C--10686057(+) TTTTA-/TTTTTT 3 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1918851001,2
    --10686076(+) AGACAC/GAGTCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for MAK (10762956 - 10838788 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MAK:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv5196CNV Insertion18451855
    nsv5197CNV Loss18451855
    nsv462631CNV Gain19166990
    nsv470800CNV Gain18288195


    Human Gene Mutation Database (HGMD): MAK
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MAK
    DNA2.0 Custom Variant and Variant Library Synthesis for MAK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 154235    OMIM disorders: --

    UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
  • Retinitis pigmentosa 62 (RP62) [MIM:614181]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for MAK:    About MalaCards
    mak-related retinitis pigmentosa    rhyns syndrome    pigmentary retinopathy    retinitis pigmentosa
    retinitis    blindness    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for MAK:
    Retinitis pigmentosa

    MAK for disorders           About GeneDecksing

    Genetic Association Database (GAD): MAK

    Export disorders for MAK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MAK gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with MAK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells. (PubMed id 16951154)1, 2, 3, 9 Ma A.H....Kung H.J. (2006)
    2. Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/C(CDH1). (PubMed id 21986944)1, 2 Wang L.Y. and Kung H.J. (2012)
    3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (2011)
    4. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MA K) as a cause of retinitis pigmentosa. (PubMed id 21825139)1, 2 Tucker B.A....Stone E.M. (2011)
    5. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. (PubMed id 21835304)1, 2 Ozgul R.K.... Corbo J.C. (2011)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    7. Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells. (PubMed id 12084720)1, 2 Xia L.... Kung H.J. (2002)
    8. A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis. (PubMed id 2183027)1, 2 Matsushime H.... Shibuya M. (1990)
    9. Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase. (PubMed id 16954377)1, 9 Fu Z....Sturgill T.W. (2006)
    10. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4117 HGNC: 6816 AceView: MAK Ensembl:ENSG00000111837 euGenes: HUgn4117
    ECgene: MAK H-InvDB: MAK

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MAK gene:
    Search GeneIP for patents involving MAK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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