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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KDM5A Gene

protein-coding GIFtS: 53
GCID: GC12M000389

Lysine (K)-Specific Demethylase 5A

(Previous names: retinoblastoma-binding protein 2, Jumonji, AT rich interactive...)
(Previous symbols: RBBP2, JARID1A)

Microbiology & Infectious Diseases Congress

9 related diseases
at

MalaCards

(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 5A¹ ²		Jumonji, AT Rich Interactive Domain 1A¹
RBBP2¹ ² ³ ⁵		Jumonji, AT Rich Interactive Domain 1A (RBBP2-Like)¹
JARID1A¹ ³ ⁵		Jumonji, AT Rich Interactive Domain 1A (RBP2-Like)²
RBP2² ³ ⁵		Lysine-Specific Demethylase 5A²
Retinoblastoma-Binding Protein 2¹ ³		Retinoblastoma Binding Protein 2²
Histone Demethylase JARID1A² ³		EC 1.14.11.-³
Jumonji/ARID Domain-Containing Protein 1A² ³		EC 1.14.11⁸
RBBP-2² ³

External Ids:	HGNC: 9886¹	Entrez Gene: 5927²	Ensembl: ENSG00000073614⁷	OMIM: 180202⁵	UniProtKB: P29375³

Export aliases for KDM5A gene to outside databases

Previous GC identifer: GC12M000259

(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 KDM5A Gene:

This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein

family. The encoded protein plays a role in gene regulation through the histone code by specifically

demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including

retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene

may play a role in tumor progression. (provided by RefSeq, Aug 2013)

GeneCards Summary for KDM5A Gene:

KDM5A (lysine (K)-specific demethylase 5A) is a protein-coding gene. Diseases associated with KDM5A include retinoblastoma, and skin cancer. 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 sequence-specific DNA binding transcription factor activity. An important paralog of this gene is KDM5C.

UniProtKB/Swiss-Prot: KDM5A_HUMAN, P29375

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'. May stimulate transcription

mediated by nuclear receptors. May be involved in transcriptional regulation of Hox proteins during cell

differentiation. May participate in transcriptional repression of cytokines such as CXCL12

Gene Wiki entry for KDM5A (JARID1A) 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_000012.11 NC_018923.2 NT_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KDM5A gene promoter:
Pax-2 Pax-2a STAT5A C/EBPalpha HNF-1A E2F Pax-2b E2F-1 HNF-1 FOXO4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KDM5A promoter sequence

Search SABiosciences Chromatin IP Primers for KDM5A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KDM5A

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

Entrez Gene cytogenetic band: 12p11 Ensembl cytogenetic band: 12p13.33 HGNC cytogenetic band: 12p13.33

KDM5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KDM5A gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M000389: view genomic region (about GC identifiers)

Start:	389,223 bp from pter	End:	498,620 bp from pter
Size:	109,398 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: KDM5A_HUMAN, P29375 (See protein sequence)

Recommended Name: Lysine-specific demethylase 5A

Size: 1690 amino acids; 192095 Da

Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)

Subunit: Interacts with SUZ12; the interaction is direct (By similarity). Interacts with the viral protein-binding

domain of RB1. Interacts with ESR1, MYC, MYCN and LMO2

Subcellular location: Nucleus, nucleolus. Note=Occupies promoters of genes involved in RNA metabolism and

mitochondrial function (By similarity)

Sequence caution: Sequence=AAB28544.1; Type=Frameshift; Positions=Several; Sequence=BAE06081.1; Type=Erroneous

initiation;

4 PDB 3D structures from and Proteopedia for KDM5A:

2JXJ (3D)

2KGG (3D)

2KGI (3D)

3GL6 (3D)

Secondary accessions: A8MV76 Q4LE72 Q86XZ1

Alternative splicing: 2 isoforms: P29375-1 P29375-2

Explore the universe of human proteins at neXtProt for KDM5A: NX_P29375

Explore proteomics data for KDM5A at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P29375

4/20 DME Specific Peptides for KDM5A (P29375) (see all 20)

GEPKTWY

ERWEEKA

YSINYLH

TTCFLSA

KDM5A Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_001036068.1

ENSEMBL proteins:

ENSP00000382688 ENSP00000440622 ENSP00000443854 ENSP00000438203 ENSP00000444251

ENSP00000372265

Human Recombinant Protein Products for KDM5A:

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IDA	--
GO:0005730	nucleolus	IEA	--
GO:0005737	cytoplasm	IDA	--
GO:0019907	colocalizes with cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	11445587

KDM5A 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 P29375

ProtoNet protein and cluster: P29375

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: KDM5A_HUMAN, P29375

Domain: The GSGFP motif is required for the interaction with SUZ12 (By similarity)

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 3 PHD-type zinc fingers

KDM5A 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: KDM5A_HUMAN, P29375

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'. May stimulate transcription

mediated by nuclear receptors. May be involved in transcriptional regulation of Hox proteins during cell

differentiation. May participate in transcriptional repression of cytokines such as CXCL12

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	8414517
GO:0005515	protein binding	--	--
GO:0008270	zinc ion binding	IEA	--

KDM5A for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Kdm5a):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	hematopoietic system
immune system	mortality/aging	normal	tumorigenesis

KDM5A for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Kdm5a^tm1.1Kael for KDM5A

inGenious Targeting Laboratory - Custom generated mouse model solutions for KDM5A

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KDM5A

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KDM5A

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KDM5A

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDM5A

(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 KDM5A About

See pathways by source

SuperPath

Contained pathways About

Chromatin Regulation / Acetylation

Chromatin Regulation / Acetylation

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for KDM5A

Chromatin Regulation / Acetylation

KDM5A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KDM5A

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/35 Interacting proteins for KDM5A (P29375³ ENSP00000382688⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST2H3A	Q71DI3³, ENSP00000385479⁴	I2D: score=1 STRING: ENSP00000385479
HIST2H3C	Q71DI3³	I2D: score=1
HIST2H3D	Q71DI3³	I2D: score=1
NR3C1	P04150³, ENSP00000231509⁴	I2D: score=4 STRING: ENSP00000231509
RARA	P10276³, ENSP00000254066⁴	I2D: score=4 STRING: ENSP00000254066

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006366	transcription from RNA polymerase II promoter	TAS	8414517
GO:0007275	multicellular organismal development	IEA	--
GO:0016568	chromatin modification	IEA	--
GO:0045893	positive regulation of transcription, DNA-dependent	IDA	11358960
GO:0055114	oxidation-reduction process	--	--

KDM5A 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 KDM5A

Search CenterWatch for drugs/clinical trials and news about KDM5A

(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 KDM5A gene (2 alternative transcripts):

NM_001042603.2 NM_005056.2

Unigene Cluster for KDM5A:

Lysine (K)-specific demethylase 5A

Hs.76272 [show with all ESTs]

Unigene Representative Sequence: NM_001042603

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000399788(uc021qsr.1 uc001qif.1) ENST00000540838 ENST00000540156

ENST00000544760 ENST00000535269 ENST00000541335 ENST00000540168 ENST00000544777

ENST00000535014 ENST00000536014 ENST00000543507 ENST00000382815(uc010sdn.1 uc010sdo.1)

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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		8/98 QIAGEN miScript miRNA Assays for microRNAs that regulate KDM5A (see all 98):
		hsa-miR-582-3p hsa-miR-548j hsa-miR-607 hsa-miR-199a-3p hsa-miR-134 hsa-miR-3916 hsa-miR-409-5p hsa-miR-3116

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Additional mRNA sequence:

AB209999.1 AF007135.1 AK057703.1 AK225060.1 AK301150.1 AK301273.1 AK307580.1 AK307689.1

AL133026.1 BC048307.1 BC053893.1 BC110916.1 S66431.1

15 DOTS entries:

DT.100780845 DT.87016210 DT.75163122 DT.92044835 DT.110527 DT.100780847 DT.100727224 DT.431815

DT.95331495 DT.121126262 DT.121126263 DT.121126329 DT.121126345 DT.87000478 DT.97785624

24/416 AceView cDNA sequences (see all 416):

AI884688 AA460157 BX092553 BQ285911 AW300068 BQ632303 BQ933481 AW058576

AI700672 BM709205 AA469935 BE328608 N80904 AA952997 AA812025 BE301184

CA308399 AA906265 AI672662 BC020867 AI146438 BM833997 BC022392 BQ632596

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KDM5A (see all 7) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19a	·	19b	^	20	^	21	^	22	^	23	^	24a	·
SP1:																											-
SP2:
SP3:
SP4:
SP5:

ExUns:	24b	^	25	^	26	^	27a	·	27b	·	27c	^	28	^	29	^	30
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for KDM5A

(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

KDM5A expression in normal human tissues (normalized intensities) KDM5A embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

KDM5A 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
pre Conventional Dendritic Cells Peripheral Blood
cd14+ cells

Limb (Muscoskeletal System)
Limb Bud

Testis (Reproductive System)
Testis Somatic Cells Primitive Gonad

Gonad (Reproductive System)
Testis Somatic Cells Primitive Gonad

Thyroid (Endocrine System)

See KDM5A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KDM5A

SOURCE GeneReport for Unigene cluster: Hs.76272

SABiosciences Custom PCR Arrays for KDM5A

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In Situ
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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 animals and fungi.

Orthologs for KDM5A gene from 8/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kdm5a^{1 , 5}	lysine (K)-specific demethylase 5A^{1, 5}	91.74(n)¹ 96.69(a)¹		6 (56.95 cM)⁵ 214899¹ NM_145997.2¹ NP_666109.2¹ 120364124⁵
chicken (Gallus gallus)	Aves	KDM5A¹	lysine (K)-specific demethylase 5A	80.5(n) 92.18(a)		418148 XM_416379.3 XP_416379.2
lizard (Anolis carolinensis)	Reptilia	KDM5A⁶	Uncharacterized protein	90(a)	1 ↔ 1	5(11886209-11931909)
African clawed frog (Xenopus laevis)	Amphibia	BJ029275.1²	--	78.67(n)		BJ029275.1
zebrafish (Danio rerio)	Actinopterygii	kdm5a¹	lysine (K)-specific demethylase 5A	65.78(n) 73.95(a)		100333310 XM_003201640.1 XP_003201688.1
fruit fly (Drosophila melanogaster)	Insecta	lid¹	little imaginal discs	50.68(n) 46.4(a)		33837 NM_078762.5 NP_523486.1
worm (Caenorhabditis elegans)	Secernentea	rbr-2⁶	Lysine-specific demethylase rbr-2	28(a)	1 → many	IV(10920107-10926797)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	JHD2⁶	JmjC domain family histone demethylase specific fo...	27(a)	1 → many	X(644304-646490)

ENSEMBL Gene Tree for KDM5A (if available)
TreeFam Gene Tree for KDM5A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KDM5A gene

KDM5C² JARID2² KDM5B² KDM5D²

11 SIMAP similar genes for KDM5A using alignment to 6 protein entries: KDM5A_HUMAN (see all proteins):

PLU-1 KDM5C KDM5B JARID1B JARID1C DKFZp434N0335

KDM5D DKFZp434D0815 DKFZp434I0617 PHF21A DKFZp434I2412

KDM5A 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)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201821956^1,2	C	untested¹	495101(+)	`GAAACA/GAAAGC`	2	R C	mis¹		0	--	--	--	--
rs201729922^1,2	C	--	388744(+)	`ACTATA/CCNNNN`	1	--	ds500¹		0	--	--	--	--
rs188571177^1,2		--	388749(+)	`ACAGCC/TTCTAT`	1	--	ds500¹		0	--	--	--	--
rs78481620^1,2	C,F	--	388754(+)	`CTCTAT/CTGTCG`	1	--	ds500¹		1		NA	120
rs77827014^1,2	C,F	--	388758(+)	`ATTGTC/TGTCTT`	1	--	ds500¹		1		NA	120
rs146554708^1,2		--	388759(+)	`TTGTCA/GTCTTT`	1	--	ds500¹		0	--	--	--	--
rs79818234^1,2	C,F	--	388806(+)	`AAATCA/GTCTAT`	1	--	ds500¹		1		EA	120
rs141216541^1,2		--	388810(+)	`CATCTA/GTGTCT`	1	--	ds500¹		0	--	--	--	--
rs144925625^1,2		--	388865(+)	`CTTGCA/TTGTGG`	1	--	ds500¹		0	--	--	--	--
rs12317905^1,2	C,F,A,H	--	388877(+)	`AGGAAG/ACCAAG`	1	--	ds500¹		12		NS EA NA WA CSA	915

HapMap Linkage Disequilibrium report for KDM5A (389223 - 498620 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/13 variations for KDM5A (see all 13): About this table

Variant ID	Type	Subtype	PubMed ID
esv34939	CNV	Loss	17911159
nsv819688	CNV	Loss	19587683
nsv898564	CNV	Loss	21882294
nsv570	CNV	Loss	18451855
esv33025	CNV	Gain	17666407
nsv898563	CNV	Gain	21882294
esv33918	CNV	Gain	17666407
nsv898565	CNV	Gain	21882294
nsv8883	CNV	Gain+Loss	18304495
nsv442250	CNV	CNV	18776908

Human Gene Mutation Database (HGMD): KDM5A

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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.)
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OMIM gene information: 180202 OMIM disorders: --

9 diseases for KDM5A: About MalaCards

retinoblastoma skin cancer spondylitis ankylosing spondylitis

acute leukemia kidney disease mental retardation melanoma

leukemia

KDM5A for disorders About GeneDecksing

1 Novoseek inferred disease relationship for KDM5A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoblastoma	76.4	11	10942599 (1), 7935440 (1), 8530100 (1), 16419055 (1) (see all 8)

Export disorders for KDM5A 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 KDM5A gene, integrated from 9 sources (see all 56):
(articles sorted by number of sources associating them with KDM5A)

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world of online information

Cloning of cDNAs for cellular proteins that bind to the retinoblastoma gene product. (PubMed id 1857421)^{1, 2, 3, 9} Defeo-Jones D.... Oliff A. (1991)
Retinoblastoma-binding protein 2 (Rbp2) potentiates nuclear hormone receptor-mediated transcription. (PubMed id 11358960)^{1, 2, 9} Chan S.W. and Hong W. (2001)
T-cell oncogene rhombotin-2 interacts with retinoblastoma-binding protein 2. (PubMed id 9129143)^{1, 2, 9} Mao S.... Goorha R.M. (1997)
Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PubMed id 7935440)^{1, 2, 9} Kim Y.W.... Kaye F.J. (1994)
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)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Binding of pRB to the PHD protein RBP2 promotes cellular differentiation. (PubMed id 15949438)^{1, 2} Benevolenskaya E.V....Kaelin W.G. Jr. (2005)
Characterization of the retinoblastoma binding proteins RBP1 and RBP2. (PubMed id 8414517)^{1, 2} Fattaey A.R....Jones R.E. (1993)
RBP2 is an MRG15 complex component and down-regulates intragenic histone H3 lysine 4 methylation. (PubMed id 17573780)^{1, 9} Hayakawa T....Nakayama J. (2007)
Isolation and regional assignment of human chromosome 12p cDNAs. (PubMed id 8530100)^{1, 9} Baens M....Marynen P. (1995)

(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: 5927	HGNC: 9886	AceView: JARID1AandSLC6A13	Ensembl:ENSG00000073614	euGenes: HUgn5927
ECgene: KDM5A	H-InvDB: KDM5A

(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 KDM5A	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for KDM5A	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for KDM5A 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 KDM5A gene:
Search GeneIP for patents involving KDM5A

GeneCards and IP:
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Lysine (K)-Specific Demethylase 5A

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Lysine (K)-Specific Demethylase 5A

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