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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KDM5C Gene

protein-coding GIFtS: 55
GCID: GC0XM053237

lysine (K)-specific demethylase 5C

(Previous names: Jumonji, AT rich interactive domain 1C (RBP2-like), Smcy...)
(Previous symbols: SMCX, JARID1C)

Explore 16 diseases affiliated with
KDM5C via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Lysine (K)-Specific Demethylase 5C¹ ²		Smcy Homolog, X-Linked (Mouse)¹
DXS1272E¹ ² ³ ⁵		MRXJ²
JARID1C¹ ² ³ ⁵		MRXSCJ²
SMCX¹ ² ³ ⁵		JmjC Domain-Containing Protein SMCX²
XE169¹ ² 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:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011630.14

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 plasmid: KDM5C 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

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 MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001140174.1 NP_004178.2

ENSEMBL proteins:

ENSP00000364550 ENSP00000385394 ENSP00000364528 ENSP00000364532 ENSP00000409757

ENSP00000407277 ENSP00000344004 ENSP00000445176

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	Uscn Proteins for KDM5C

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	--	--
GO:0005634	nucleus	IDA	18078810

KDM5C for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KDM5C

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KDM5C for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR001965 Znf_PHD

IPR013083 Znf_RING/FYVE/PHD

IPR003347 JmjC_dom

IPR013637 Lys_sp_deMease_like_dom

IPR019786 Zinc_finger_PHD-type_CS

Graphical View of Domain Structure for InterPro Entry P41229

ProtoNet protein and cluster: P41229

5/6 Blocks protein families (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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

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		hsa-miR-193a-3p hsa-miR-578 hsa-miR-3916 hsa-miR-1304 hsa-miR-4325 hsa-miR-3150b-3p hsa-miR-3613-3p hsa-miR-556-3p

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDM5C

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	--	--
GO:0003677	DNA binding	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	--
GO:0016706	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	IEA	--

KDM5C for ontologies About GeneDecksing

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

Animal Models:
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Kdm5c):

cardiovascular system

embryogenesis

normal

KDM5C for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Chromatin Regulation / Acetylation

Chromatin Regulation / Acetylation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for KDM5C

Chromatin Regulation / Acetylation

KDM5C for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KDM5C

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

5/71 Interacting proteins for KDM5C (P41229³ ENSP00000364550⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=4
HIST1H4B	P62805³	I2D: score=4
HIST1H4C	P62805³	I2D: score=4
HIST1H4D	P62805³	I2D: score=4
HIST1H4E	P62805³	I2D: score=4

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0008150	biological_process	--	--
GO:0034720	histone H3-K4 demethylation	IDA	17320160

KDM5C for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KDM5C gene (2 alternative transcripts):

NM_001146702.1 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 Products:		OriGene 3'-UTR Clone (see all 2): KDM5C Browse OriGene MicroRNA Expression Plasmids
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		8/71 QIAGEN miScript miRNA Assays for microRNAs that regulate KDM5C (see all 71):
		hsa-miR-193a-3p hsa-miR-578 hsa-miR-3916 hsa-miR-1304 hsa-miR-4325 hsa-miR-3150b-3p hsa-miR-3613-3p hsa-miR-556-3p

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Additional cDNA 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):

AI017396 AL556381 CF890786 CF143860 NM_004187 BG684126 BU153721 CR605926

AI858456 CA944929 BQ070750 BM744459 AL698698 BU521400 AI264498 BM785022

BM987215 BX493253 BM785049 CK820660 BU681761 AI926166 L25270 AA725213

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
CGAP TAG: TTGTAATAAA

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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In Situ
Assay Products:

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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 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	--	--	80(a)	1 → many	1(204860450-204880349)
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	25(a)	1 → many	IV(10920086-10926776)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G30810⁶ MEE27⁶ (see all 6)	transcription factor jumonji and C5HC2 type zinc f... transcription factor jumonji and C5HC2 type zinc f... (see all 6)	26(a) 26(a) (see all 6)	many ↔ many many ↔ many (see all 6)	1(10936765-10942292) 2(14711880-14716634)
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 KDM5D² KDM5A²

9 SIMAP similar genes for KDM5C using alignment to 6 protein entries: KDM5C_HUMAN (see all proteins):

JARID1C KDM5D PLU-1 KDM5A JARID2 KDM5B

JARID1B DKFZp434N0335 DKFZp434D0815

KDM5C for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199422238^1,2	C	pathogenic	53228018(-)	`AGGTTC/TGGGCT`	4	R W	mis¹		0	--	--	--	--
rs199422234^1,2	C	pathogenic	53228211(-)	`TCTGCC/TTTTCC`	4	L F	mis¹		0	--	--	--	--
rs199422236^1,2	C	pathogenic	53228322(-)	`CTGAGC/TGAGAG`	4	R *	stg¹		0	--	--	--	--
rs199422237^1,2	C	pathogenic	53240727(-)	`GGCAGC/GGGTTT`	4	S R	mis¹		0	--	--	--	--
rs199422235^1,2	C	pathogenic	53241049(-)	`AGCAGC/GCTACC`	4	P A	mis¹		0	--	--	--	--
rs199422239^1,2	C	pathogenic	53247580(-)	`TTCAGA/GCCCAG`	3	T A	mis¹ int¹		0	--	--	--	--
rs186792538^1,2		--	53220021(+)	`CCCATA/GAACGT`	2	--	int¹		0	--	--	--	--
rs192993799^1,2		--	53220087(+)	`CAGGAC/GCCAGC`	2	--	int¹		0	--	--	--	--
rs184684929^1,2		--	53220570(+)	`AAGGAC/TGCCTA`	2	--	ut3¹		0	--	--	--	--
rs188777635^1,2		--	53220695(+)	`GTGACC/TGTATG`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KDM5C (53220503 - 53254604 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KDM5C
1 CNV: 23256
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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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KDM5C for disorders           About GeneDecksing

OMIM gene information: 314690
OMIM disorders: 300534
UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229

Defects in KDM5C are the cause of mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ)

[MIM:300534]. A disorder characterized by significantly sub-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

16 diseases for KDM5C: About MalaCards

mental retardation, x-linked mental retardation, x-linked syndromic autism spectrum disorder x inactivation

spastic paraplegia short stature mental retardation syndrome intellectual disability

paraplegia hemiplegia spasticity renal carcinoma

retinoblastoma carcinoma malaria neuronitis

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

Intellectual disability

1 Novoseek 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)

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)
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PubMed articles for KDM5C gene, integrated from 9 sources (see all 45):
(articles sorted by number of sources associating them with KDM5C)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
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)
A novel mutation in JARID1C gene associated with mental retardation. (PubMed id 16538222)^{1, 2, 9} Santos C....Mila M. (2006)
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)
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. (PubMed id 17468742)^{1, 2} Tahiliani M.... Shi Y. (2007)
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)
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)
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. (PubMed id 16541399)^{1, 2} Tzschach A.... Jensen L.R. (2006)
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)
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		AND	OR
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)
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Entrez Gene: 8242	HGNC: 11114	AceView: JARID1C	Ensembl:ENSG00000126012	euGenes: HUgn8242
ECgene: KDM5C	H-InvDB: KDM5C

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KDM5C	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JARID1C

Intellectual Property for KDM5C gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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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KDM5C Gene

lysine (K)-specific demethylase 5C

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KDM5C (Gene Symbol)
Lysine (K)-Specific Demethylase 5C
DXS1272E
JARID1C
SMCX
XE169
Jumonji, AT Rich Interactive Domain 1C (RBP2-Like)
Histone Demethylase JARID1C
Protein SmcX
Jumonji/ARID Domain-Containing Protein 1C
MRXSJ
Jumonji, AT Rich Interactive Domain 1C
Smcy Homolog, X-Linked (Mouse)
MRXJ
MRXSCJ
JmjC Domain-Containing Protein SMCX
Lysine-Specific Demethylase 5C
Selected CDNA On X
Smcx Homolog, X Chromosome
Smcy Homolog, X-Linked
EC 1.14.11.-
Protein Xe169
EC 1.14.11

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KDM5C Gene

lysine (K)-specific demethylase 5C

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