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

KDM5C Gene

protein-coding   GIFtS: 58
GCID: GC0XM053237

Lysine (K)-Specific Demethylase 5C

(Previous names: Jumonji, AT rich interactive domain 1C (RBP2-like), Smcy...)
(Previous symbols: SMCX, JARID1C)
  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
Lysine (K)-Specific Demethylase 5C1 2     Smcy Homolog, X-Linked (Mouse)1
JARID1C1 2 3 5     MRXJ2
SMCX1 2 3 5     MRXSCJ2
DXS1272E2 3 5     JmjC Domain-Containing Protein SMCX2
XE1692 3 5     Lysine-Specific Demethylase 5C2
Jumonji, AT Rich Interactive Domain 1C (RBP2-Like)1 2     Selected CDNA On X2
Histone Demethylase JARID1C2 3     Smcx Homolog, X Chromosome2
Protein SmcX2 3     Smcy Homolog, X-Linked2
Jumonji/ARID Domain-Containing Protein 1C2 3     EC 1.14.11.-3
MRXSJ2 5     Protein Xe1693
Jumonji, AT Rich Interactive Domain 1C1     EC 1.14.118

External Ids:    HGNC: 111141   Entrez Gene: 82422   Ensembl: ENSG000001260127   OMIM: 3146905   UniProtKB: P412293   

Export aliases for KDM5C gene to outside databases

Previous GC identifer: GC0XM050285


(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 KDM5C Gene:
This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one
JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the
regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked
mental retardation. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Apr 2009)

GeneCards Summary for KDM5C Gene: 
KDM5C (lysine (K)-specific demethylase 5C) is a protein-coding gene. Diseases associated with KDM5C include mental retardation, x-linked, syndromic, jarid1c-related, and x-linked syndromic mental retardation, claes-jensen type. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and histone demethylase activity (H3-K4 specific). An important paralog of this gene is JARID2.

UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229
Function: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role
in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'.
Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional
repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements

Gene Wiki entry for KDM5C (JARID1C) 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_000023.10  NT_011630.14  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KDM5C gene promoter:
         TBP   RP58   HTF   GATA-2   CREB   Ik-2   HOXA5   deltaCREB   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKDM5C promoter sequence
   Search SABiosciences Chromatin IP Primers for KDM5C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KDM5C


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

Entrez Gene cytogenetic band: Xp11.22-p11.21   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.22-p11.21

KDM5C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KDM5C gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM053237:  view genomic region     (about GC identifiers)

Start:
53,220,503 bp from pter      End:
53,254,604 bp from pter
Size:
34,102 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: KDM5C_HUMAN, P41229 (See protein sequence)
Recommended Name: Lysine-specific demethylase 5C  
Size: 1560 amino acids; 175720 Da
Cofactor: Alpha-ketoglutarate
Cofactor: Binds 1 Fe(2+) ion per subunit
Subunit: Part of two distinct complexes, one containing E2F6, and the other containing REST
Subcellular location: Nucleus
Miscellaneous: Escapes X-inactivation
1 PDB 3D structure from and Proteopedia for KDM5C:
2JRZ (3D)    
Secondary accessions: B4E3I2 F5H3T1 Q5JUX3 Q5JUX4 Q5JUX5 Q7Z5S5
Alternative splicing: 4 isoforms:  P41229-1   P41229-2   P41229-3   P41229-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KDM5C: NX_P41229

Explore proteomics data for KDM5C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P41229

  • 4/61 DME Specific Peptides for KDM5C (P41229) (see all 61)
     DKEYKPH  STKRSRW  LLEVLCP  TFLKKNS 

    KDM5C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KDM5C Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001140174.1  NP_001269551.1  NP_004178.2  

    ENSEMBL proteins: 
     ENSP00000364550   ENSP00000385394   ENSP00000364528   ENSP00000364532   ENSP00000409757  
     ENSP00000407277   ENSP00000344004   ENSP00000445176  

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    Cloud-Clone Corp. Proteins for KDM5C 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA18078810

    KDM5C for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KDM: Chromatin-modifying enzymes / K-demethylases
    PHF: Zinc fingers, PHD-type

    5/10 InterPro protein domains (see all 10):
     IPR003347 JmjC_dom
     IPR013637 Lys_sp_deMease_like_dom
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001965 Znf_PHD
     IPR003349 TF_JmjN

    Graphical View of Domain Structure for InterPro Entry P41229

    ProtoNet protein and cluster: P41229

    5/6 Blocks protein domains (see all 6):
    IPB001606 ARID (AT-rich interaction domain) protein
    IPB001965 Zn-finger-like
    IPB003347 Transcription factor jumonji
    IPB003349 Transcription factor jumonji
    IPB004198 Zn-finger


    UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229
    Domain: The first PHD-type zinc finger domain recognizes and binds H3-K9Me3
    Domain: Both the JmjC domain and the JmjN domain are required for enzymatic activity
    Similarity: Belongs to the JARID1 histone demethylase family
    Similarity: Contains 1 ARID domain
    Similarity: Contains 1 JmjC domain
    Similarity: Contains 1 JmjN domain
    Similarity: Contains 2 PHD-type zinc fingers


    KDM5C 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: KDM5C_HUMAN, P41229
    Function: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role
    in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'.
    Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional
    repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements

         Enzyme Numbers (IUBMB): EC 1.14.11.-1 EC 1.14.112

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
    GO:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IEA--
         
    KDM5C for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for KDM5C:
     Decreased BPV1 E2 protein expr  Decreased POU5F1-GFP protein e  Increased HPV18 LCR reporter a  Increased cell death in HCC-19 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kdm5c):
     cardiovascular system  embryogenesis  normal 

    KDM5C for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidKDM5C 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDM5C


    (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 KDM5C About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KDM5C
        Chromatin Regulation / Acetylation



    KDM5C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KDM5C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/75 Interacting proteins for KDM5C (P412293 ENSP000003645504) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0034720histone H3-K4 demethylation IDA17320160
    GO:0055114oxidation-reduction process ----

    KDM5C 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 KDM5C

    Search CenterWatch for drugs/clinical trials and news about KDM5C

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 KDM5C gene (3 alternative transcripts): 
    NM_001146702.1  NM_001282622.1  NM_004187.3  

    Unigene Cluster for KDM5C:

    Lysine (K)-specific demethylase 5C
    Hs.631768  [show with all ESTs]
    Unigene Representative Sequence: NM_004187
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375401 ENST00000404049 ENST00000375379 ENST00000375383 ENST00000477109
    ENST00000497100 ENST00000465402 ENST00000481369 ENST00000497995 ENST00000429877
    ENST00000495519 ENST00000467093 ENST00000428012 ENST00000349663 ENST00000452825(uc004drz.3 uc022bxe.1 uc004dsa.3)

    miRNA
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    Additional mRNA sequence: 

    AF069136.1 AK304732.1 AK308077.1 AY927525.1 AY927613.1 AY927614.1 BC054499.2 EF613277.1 
    L25270.1 Z29650.1 

    15 DOTS entries:

    DT.314594  DT.100817390  DT.92428580  DT.95195172  DT.86857392  DT.100817379  DT.121298854  DT.95249943 
    DT.100817387  DT.100817394  DT.100840162  DT.121298874  DT.87012280  DT.100817385  DT.100830833 

    24/327 AceView cDNA sequences (see all 327):

    BM987215 T09259 AA317615 AA358508 AI215858 BM015635 L25270 BM678964 
    AI858456 BC054499 BM772826 CR602759 BQ070750 BM983446 BF988839 T29064 
    AU123787 BM790993 AW576154 BM783479 BU681761 AA348318 CA944929 CB243084 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for KDM5C (see all 12)    About this scheme

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

    ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28
    SP1:                          -                       -                                                                                 
    SP2:                          -                       -                                                                                 
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:                                                                                -                                                   


    ECgene alternative splicing isoforms for KDM5C

    (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

    KDM5C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTAATAAA
    KDM5C Expression
    About this image


    See KDM5C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KDM5C

    SOURCE GeneReport for Unigene cluster: Hs.631768

    UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229
    Tissue specificity: Expressed in all tissues examined. Highest levels found in brain and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including KDM5C: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    (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 KDM5C gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kdm5c1 , 5 lysine (K)-specific demethylase 5C1, 5 90.2(n)1
    95.42(a)1
      X (68.46 cM)5
    205911  NM_013668.31  NP_038696.21 
     1522330205 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    80(a)
    1 → many
    1(204862436-204882164)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ066924.12   -- 76.41(n)    BJ066924.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kdm5c1 lysine (K)-specific demethylase 5C 64.95(n)
    67.65(a)
      553406  NM_001123234.1  NP_001116706.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lid6
    little imaginal discs
    34(a)
    1 → many
    2L(5989463-5999501)
    worm
    (Caenorhabditis elegans)
    Secernentea rbr-26
    Lysine-specific demethylase rbr-2
    26(a)
    1 → many
    IV(10920107-10926797)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes JHD2(YJR119C)4 JmjC domain family histone demethylase specific for more   --   10(646490-644304) 853583  NP_012653.1 
    rice
    (Oryza sativa)
    Liliopsida Os.71302 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 80.36(n)    AK073475.1 


    ENSEMBL Gene Tree for KDM5C (if available)
    TreeFam Gene Tree for KDM5C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KDM5C gene
    JARID22  KDM5B2  KDM5A2  KDM5D2  
    9 SIMAP similar genes for KDM5C using alignment to 6 protein entries:     KDM5C_HUMAN (see all proteins):
    JARID1C    KDM5D    PLU-1    KDM5A    KDM5B    JARID2
    JARID1B    DKFZp434N0335    DKFZp434D0815

    KDM5C 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

    10/545 SNPs in KDM5C are shown (see all 545)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0329874
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0329872 S R mis40--------
    VAR_0227324
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0227322 E K mis40--------
    VAR_0227304
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0227302 A P mis40--------
    VAR_0227314
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0227312 D Y mis40--------
    VAR_0329884
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0329882 F L mis40--------
    VAR_0227334
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0227332 L F mis40--------
    VAR_0329894
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0329892 R W mis40--------
    VAR_0329864
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0329862 D G mis40--------
    VAR_0329904
    Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)4--see VAR_0329902 Y C mis40--------
    rs1994222381,2
    Cpathogenic153242233(-) AGGTTC/TGGGCT 4 R W mis10--------

    HapMap Linkage Disequilibrium report for KDM5C (53220503 - 53254604 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KDM5C:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297


    Human Gene Mutation Database (HGMD): KDM5C

    Locus Specific Mutation Databases (LSDB): KDM5C
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 314690   
    OMIM disorders: 300534  
    UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229
  • Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]: A disorder
    characterized by significantly below average general intellectual functioning associated with impairments in
    adaptative behavior and manifested during the developmental period. MRXSCJ patients manifest mental retardation
    associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for KDM5C:    About MalaCards
    mental retardation, x-linked, syndromic, jarid1c-related    x-linked syndromic mental retardation, claes-jensen type    intellectual disability    hemiplegia
    mental retardation    autism spectrum disorder    mental retardation, x-linked    short stature
    paraplegia    spasticity    retinoblastoma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for KDM5C:
    Intellectual disability

    KDM5C for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for KDM5C gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 59.6 6 18697827 (4), 16538222 (1), 15586325 (1)

    Genetic Association Database (GAD): KDM5C

    Export disorders for KDM5C 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 KDM5C gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with KDM5C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. (PubMed id 8162017)1, 2, 3, 9 Wu J....Shapiro L.J. (1994)
    2. A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. (PubMed id 7951230)1, 2, 3 Agulnik A.I.... Bishop C.E. (1994)
    3. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. (PubMed id 15586325)1, 2, 9 Jensen L.R.... Lenzner S. (2005)
    4. A novel mutation in JARID1C gene associated with mental retardation. (PubMed id 16538222)1, 2, 9 Santos C....Mila M. (2006)
    5. RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine 4 on histone 3. (PubMed id 17320161)1, 2 Christensen J.... Helin K. (2007)
    6. The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. (PubMed id 17468742)1, 2 Tahiliani M.... Shi Y. (2007)
    7. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. (PubMed id 17320160)1, 2 Iwase S.... Shi Y. (2007)
    8. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    9. Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. (PubMed id 16541399)1, 2 Tzschach A.... Jensen L.R. (2006)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 8242 HGNC: 11114 AceView: JARID1C Ensembl:ENSG00000126012 euGenes: HUgn8242
    ECgene: KDM5C H-InvDB: KDM5C

    (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 KDM5C Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JARID1C

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KDM5C gene:
    Search GeneIP for patents involving KDM5C

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



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