Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KDM5C Gene

Aliases for KDM5C Gene

  • Lysine Demethylase 5C 2 3 5
  • Jumonji, AT Rich Interactive Domain 1C (RBP2-Like) 2 3
  • Jumonji/ARID Domain-Containing Protein 1C 3 4
  • Lysine (K)-Specific Demethylase 5C 2 3
  • Histone Demethylase JARID1C 3 4
  • DXS1272E 3 4
  • JARID1C 3 4
  • XE169 3 4
  • SMCX 3 4
  • Jumonji, AT Rich Interactive Domain 1C 2
  • JmjC Domain-Containing Protein SMCX 3
  • Mental Retardation, X-Linked 13 2
  • Lysine-Specific Demethylase 5C 3
  • Smcy Homolog, X-Linked (Mouse) 2
  • Smcx Homolog, X Chromosome 3
  • Smcy Homolog, X-Linked 3
  • Protein Xe169 4
  • Protein SmcX 4
  • EC 1.14.11.- 4
  • MRXSCJ 3
  • MRXSJ 3
  • MRX13 3
  • MRXJ 3

External Ids for KDM5C Gene

Previous HGNC Symbols for KDM5C Gene

  • SMCX
  • JARID1C
  • MRX13

Previous GeneCards Identifiers for KDM5C Gene

  • GC0XM053237
  • GC0XM050285
  • GC0XM053220
  • GC0XM053192

Summaries for KDM5C Gene

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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

CIViC summary for KDM5C Gene

GeneCards Summary for KDM5C Gene

KDM5C (Lysine Demethylase 5C) is a Protein Coding gene. Diseases associated with KDM5C include Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include oxidoreductase 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 and histone demethylase activity (H3-K4 specific). An important paralog of this gene is KDM5D.

UniProtKB/Swiss-Prot for KDM5C Gene

  • Histone demethylase that specifically demethylates Lys-4 of histone H3, thereby playing a central role in histone code (PubMed:28262558). 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. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity).

Gene Wiki entry for KDM5C Gene

Additional gene information for KDM5C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDM5C Gene

Genomics for KDM5C Gene

GeneHancer (GH) Regulatory Elements for KDM5C Gene

Promoters and enhancers for KDM5C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ053223 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 656.2 +0.7 687 2.9 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 KDM5C GPR173 TSPYL2 FAM156B ACTG1P10 KANTR RPSAP62 SSXP5 SSX7 XAGE1A
GH0XJ054042 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 43.7 -818.9 -818927 3.9 PKNOX1 CLOCK FOXA2 ARNT NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 PHF8 KDM5C ACTG1P10 SMC1A KANTR ENSG00000233250 TSPYL2 APEX2 GPR173 MAGED2
GH0XJ053420 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 38 -196.9 -196908 2.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 SMC1A RIBC1 KDM5C FAM156B TSPYL2 GPR173 ACTG1P10 KDM5C-IT1 PHF8 ENSG00000233250
GH0XJ053279 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 24.5 -55.7 -55662 3.7 HDGF GLI4 ZNF121 GLIS2 ZFP91 ATF7 ZNF263 SP3 REST ZNF610 IQSEC2 FAM156B ACTG1P10 KDM5C KANTR ENSG00000233250 PHF8 KDM5C-IT1 HUWE1 TSPYL2
GH0XJ053093 Promoter/Enhancer 1.5 Ensembl ENCODE 27.9 +131.3 131282 2.1 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF213 ZNF143 FOS KLF13 SP3 ENSG00000234019 KANTR FAM156B KDM5C KDM5C-IT1 PHF8 ACTG1P10 SMC1A ENSG00000233250 TSPYL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KDM5C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KDM5C gene promoter:

Genomic Locations for KDM5C Gene

Genomic Locations for KDM5C Gene
chrX:53,158,726-53,225,422
(GRCh38/hg38)
Size:
66,697 bases
Orientation:
Minus strand
chrX:53,220,503-53,254,604
(GRCh37/hg19)

Genomic View for KDM5C Gene

Genes around KDM5C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDM5C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KDM5C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KDM5C Gene

Proteins for KDM5C Gene

  • Protein details for KDM5C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41229-KDM5C_HUMAN
    Recommended name:
    Lysine-specific demethylase 5C
    Protein Accession:
    P41229
    Secondary Accessions:
    • B0QZ44
    • B4E3I2
    • F5H3T1
    • Q5JUX3
    • Q5JUX4
    • Q5JUX5
    • Q7Z5S5

    Protein attributes for KDM5C Gene

    Size:
    1560 amino acids
    Molecular mass:
    175720 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Part of two distinct complexes, one containing E2F6, and the other containing REST.
    Miscellaneous:
    • Escapes X-inactivation.

    Three dimensional structures from OCA and Proteopedia for KDM5C Gene

    Alternative splice isoforms for KDM5C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KDM5C Gene

Post-translational modifications for KDM5C Gene

  • Ubiquitination at Lys1121 and isoforms=2, 3, 4, 5377
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KDM5C Gene

Domains & Families for KDM5C Gene

Gene Families for KDM5C Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for KDM5C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41229

UniProtKB/Swiss-Prot:

KDM5C_HUMAN :
  • The first PHD-type zinc finger domain recognizes and binds H3-K9Me3.
  • Belongs to the JARID1 histone demethylase family.
Domain:
  • The first PHD-type zinc finger domain recognizes and binds H3-K9Me3.
  • Both the JmjC domain and the JmjN domain are required for enzymatic activity.
Family:
  • Belongs to the JARID1 histone demethylase family.
genes like me logo Genes that share domains with KDM5C: view

Function for KDM5C Gene

Molecular function for KDM5C Gene

UniProtKB/Swiss-Prot Function:
Histone demethylase that specifically demethylates Lys-4 of histone H3, thereby playing a central role in histone code (PubMed:28262558). 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. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
The inhibitor KDOAM-25 and others inhibit its demethylase activity, resulting to cell cycle arrest in myeloma cells.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6 uM for 2-oxoglutarate {ECO:0000269 PubMed:26645689}; KM=3.3 uM for histone H3K4me3 {ECO:0000269 PubMed:26645689}; Note=Kcat are 1.92 min(-1) and 2.71 min(-1) for 2-oxoglutarate and histone H3K4me3, respectively. {ECO:0000269 PubMed:26645689};

Enzyme Numbers (IUBMB) for KDM5C Gene

Gene Ontology (GO) - Molecular Function for KDM5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17468742
GO:0008270 zinc ion binding IDA 27214403
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with KDM5C: view
genes like me logo Genes that share phenotypes with KDM5C: view

Human Phenotype Ontology for KDM5C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KDM5C Gene

MGI Knock Outs for KDM5C:
  • Kdm5c Kdm5c<tm1b(EUCOMM)Hmgu>

Animal Model Products

Clone Products

  • Addgene plasmids for KDM5C

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for KDM5C Gene

Localization for KDM5C Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDM5C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KDM5C gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KDM5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 18078810
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with KDM5C: view

Pathways & Interactions for KDM5C Gene

genes like me logo Genes that share pathways with KDM5C: view

Pathways by source for KDM5C Gene

1 GeneTex pathway for KDM5C Gene
1 Cell Signaling Technology pathway for KDM5C Gene

Gene Ontology (GO) - Biological Process for KDM5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0009636 response to toxic substance IEA --
genes like me logo Genes that share ontologies with KDM5C: view

No data available for SIGNOR curated interactions for KDM5C Gene

Drugs & Compounds for KDM5C Gene

(1) Drugs for KDM5C Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PBIT Pharma 0
genes like me logo Genes that share compounds with KDM5C: view

Transcripts for KDM5C Gene

Unigene Clusters for KDM5C Gene

Lysine (K)-specific demethylase 5C:
Representative Sequences:

Clone Products

  • Addgene plasmids for KDM5C

Alternative Splicing Database (ASD) splice patterns (SP) for KDM5C Gene

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:
SP6:
SP7:
SP8: - - - -
SP9:
SP10:
SP11:
SP12:

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: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for KDM5C Gene

GeneLoc Exon Structure for
KDM5C
ECgene alternative splicing isoforms for
KDM5C

Expression for KDM5C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KDM5C Gene

Protein differential expression in normal tissues from HIPED for KDM5C Gene

This gene is overexpressed in Retina (19.4), Placenta (17.6), Heart (17.1), and Adipocyte (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KDM5C Gene



Protein tissue co-expression partners for KDM5C Gene

NURSA nuclear receptor signaling pathways regulating expression of KDM5C Gene:

KDM5C

SOURCE GeneReport for Unigene cluster for KDM5C Gene:

Hs.631768

mRNA Expression by UniProt/SwissProt for KDM5C Gene:

P41229-KDM5C_HUMAN
Tissue specificity: Expressed in all tissues examined. Highest levels found in brain and skeletal muscle.

Evidence on tissue expression from TISSUES for KDM5C Gene

  • Blood(4.3)
  • Eye(4.2)
  • Nervous system(4.2)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KDM5C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Pelvis:
  • penis
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with KDM5C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KDM5C Gene

Orthologs for KDM5C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KDM5C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KDM5C 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMCX 34
  • 97 (a)
OneToOne
KDM5C 33
  • 92.57 (n)
dog
(Canis familiaris)
Mammalia KDM5C 34 33
  • 92.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kdm5c 16 34 33
  • 90.22 (n)
rat
(Rattus norvegicus)
Mammalia Kdm5c 33
  • 88.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 79 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kdm5c 33
  • 68.75 (n)
zebrafish
(Danio rerio)
Actinopterygii kdm5c 34 33
  • 65.82 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lid 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rbr-2 34
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JHD2 36 34
  • 29 (a)
rice
(Oryza sativa)
Liliopsida Os.7130 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01238 33
  • 46.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lid2 33
  • 38.31 (n)
Species where no ortholog for KDM5C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KDM5C Gene

ENSEMBL:
Gene Tree for KDM5C (if available)
TreeFam:
Gene Tree for KDM5C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KDM5C: view image

Paralogs for KDM5C Gene

Paralogs for KDM5C Gene

(9) SIMAP similar genes for KDM5C Gene using alignment to 5 proteins:

  • KDM5C_HUMAN
  • F8W7H7_HUMAN
  • F8WDK1_HUMAN
  • F8WF56_HUMAN
  • L8E945_HUMAN
genes like me logo Genes that share paralogs with KDM5C: view

Variants for KDM5C Gene

Sequence variations from dbSNP and Humsavar for KDM5C Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057515581 pathogenic, Mental retardation, syndromic, Claes-Jensen type, X-linked 53,217,907(-) TA/TATA 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs1057517955 retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534], likely-pathogenic, not provided 53,199,128(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057518697 retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534], likely-pathogenic, pathogenic, Mental retardation, syndromic, Claes-Jensen type, X-linked, not provided 53,210,820(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519393 pathogenic, Mental retardation, syndromic, Claes-Jensen type, X-linked 53,197,769(-) A/AA splice_donor_variant
rs1060499661 pathogenic, Mental retardation, syndromic, Claes-Jensen type, X-linked 53,216,085(-) AGAG/AG coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KDM5C Gene

Variant ID Type Subtype PubMed ID
esv2740175 CNV deletion 23290073
nsv435891 CNV deletion 17901297

Variation tolerance for KDM5C Gene

Residual Variation Intolerance Score: 1.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KDM5C Gene

Human Gene Mutation Database (HGMD)
KDM5C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KDM5C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDM5C Gene

Disorders for KDM5C Gene

MalaCards: The human disease database

(4) MalaCards diseases for KDM5C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KDM5C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KDM5C_HUMAN
  • 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 adaptive 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. {ECO:0000269 PubMed:15586325, ECO:0000269 PubMed:16538222, ECO:0000269 PubMed:16541399, ECO:0000269 PubMed:17320160, ECO:0000269 PubMed:17468742, ECO:0000269 PubMed:23356856, ECO:0000269 PubMed:25666439}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KDM5C

genes like me logo Genes that share disorders with KDM5C: view

No data available for Genatlas for KDM5C Gene

Publications for KDM5C Gene

  1. Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. (PMID: 8162017) Wu J … Shapiro LJ (Human molecular genetics 1994) 2 3 4 22 58
  2. Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. (PMID: 19826449) Rujirabanjerd S … Gecz J (European journal of human genetics : EJHG 2010) 2 3 22 58
  3. A novel mutation in JARID1C gene associated with mental retardation. (PMID: 16538222) Santos C … Milà M (European journal of human genetics : EJHG 2006) 3 4 22 58
  4. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. (PMID: 15586325) Jensen LR … Lenzner S (American journal of human genetics 2005) 3 4 22 58
  5. A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. (PMID: 7951230) Agulnik AI … Bishop CE (Human molecular genetics 1994) 2 3 4 58

Products for KDM5C Gene

  • Addgene plasmids for KDM5C

Sources for KDM5C Gene

Content
Loading form....