SZGR2

Summary ?

GeneID	4297
Symbol	KMT2A
Synonyms	ALL-1\|CXXC7\|HRX\|HTRX1\|MLL\|MLL-AF9\|MLL/GAS7\|MLL1\|MLL1A\|TET1-MLL\|TRX1\|WDSTS
Description	lysine methyltransferase 2A
Reference	MIM:159555\|HGNC:HGNC:7132\|Ensembl:ENSG00000118058\|HPRD:01162\|Vega:OTTHUMG00000166337
Gene type	protein-coding
Map location	11q23
Pascal p-value	6.823E-4

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:GWAScat	Genome-wide Association Studies	This data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:GWASdb	Genome-wide Association Studies	GWASdb records for schizophrenia
CV:PGCnp	Genome-wide Association Study	GWAS
PMID:cooccur	High-throughput literature-search	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature	High-throughput literature-search	Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias	Click to show details

Section I. Genetics and epigenetics annotation

Section II. Transcriptome annotation

General gene expression (GTEx)

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
ERBB2	0.88	0.83
MRC2	0.88	0.84
EPHB4	0.87	0.85
FSTL1	0.86	0.79
PDPN	0.85	0.68
CMTM3	0.84	0.72
IQGAP2	0.83	0.69
CPXM1	0.83	0.67
MSN	0.82	0.76
SMO	0.82	0.74

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
C5orf53	-0.41	-0.49
CA11	-0.40	-0.49
CA4	-0.40	-0.43
CACNA1F	-0.37	-0.43
CCNI2	-0.37	-0.40
SPDEF	-0.36	-0.44
AF347015.27	-0.36	-0.44
EPHX4	-0.36	-0.46
ASPHD1	-0.36	-0.32
TUBA1	-0.36	-0.46

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003676	nucleic acid binding	IEA		-
GO:0003677	DNA binding	IEA		-
GO:0003700	transcription factor activity	NAS		10821850
GO:0003702	RNA polymerase II transcription factor activity	TAS		10821850
GO:0005515	protein binding	IEA		-
GO:0016740	transferase activity	IEA		-
GO:0008270	zinc ion binding	IEA		-
GO:0008168	methyltransferase activity	IEA		-
GO:0018024	histone-lysine N-methyltransferase activity	IEA		-
GO:0042803	protein homodimerization activity	IDA		11313484
GO:0046872	metal ion binding	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0006355	regulation of transcription, DNA-dependent	IEA		-
GO:0006350	transcription	IEA		-
GO:0006461	protein complex assembly	IDA		15199122
GO:0006366	transcription from RNA polymerase II promoter	TAS		10821850
GO:0006915	apoptosis	IEA		-
GO:0016568	chromatin modification	IEA		-
GO:0035162	embryonic hemopoiesis	TAS		15618964
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005634	nucleus	IDA		15640349

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ASH2L	ASH2 \| ASH2L1 \| ASH2L2 \| Bre2	ash2 (absent, small, or homeotic)-like (Drosophila)	Affinity Capture-Western Co-purification	BioGRID	15199122
AVP	ADH \| ARVP \| AVP-NPII \| AVRP \| VP	arginine vasopressin	Biochemical Activity	BioGRID	14607844
BMI1	MGC12685 \| PCGF4 \| RNF51	BMI1 polycomb ring finger oncogene	-	HPRD,BioGRID	12829790
CBX4	NBP16 \| PC2 \| hPC2	chromobox homolog 4 (Pc class homolog, Drosophila)	Reconstituted Complex	BioGRID	12829790
CREBBP	CBP \| KAT3A \| RSTS	CREB binding protein	-	HPRD,BioGRID	11259575 \|12205094
CTBP1	BARS \| MGC104684	C-terminal binding protein 1	Affinity Capture-Western Reconstituted Complex	BioGRID	12829790
FASLG	APT1LG1 \| CD178 \| CD95L \| FASL \| TNFSF6	Fas ligand (TNF superfamily, member 6)	-	HPRD	12023017
HCFC1	CFF \| HCF-1 \| HCF1 \| HFC1 \| MGC70925 \| VCAF	host cell factor C1 (VP16-accessory protein)	Affinity Capture-Western Co-purification	BioGRID	15199122
HCFC2	FLJ94012 \| HCF-2 \| HCF2	host cell factor C2	Affinity Capture-Western Co-purification	BioGRID	15199122
HDAC1	DKFZp686H12203 \| GON-10 \| HD1 \| RPD3 \| RPD3L1	histone deacetylase 1	Affinity Capture-Western Reconstituted Complex	BioGRID	12829790
HOXA9	ABD-B \| HOX1 \| HOX1.7 \| HOX1G \| MGC1934	homeobox A9	MLL1 interacts with HOXA9 promoter.	BIND	15960974
HOXA9	ABD-B \| HOX1 \| HOX1.7 \| HOX1G \| MGC1934	homeobox A9	MLL1 interacts with HOXA9.	BIND	15960974
HOXC8	HOX3 \| HOX3A	homeobox C8	MLL1 interacts with HOXC8 promoter.	BIND	15960974
HOXC8	HOX3 \| HOX3A	homeobox C8	MLL1 interacts with HOXC8.	BIND	15960974
INS	ILPR \| IRDN	insulin	Biochemical Activity	BioGRID	14607844
MAP3K5	ASK1 \| MAPKKK5 \| MEKK5	mitogen-activated protein kinase kinase kinase 5	Affinity Capture-Western	BioGRID	14607843
MEN1	MEAI \| SCG2	multiple endocrine neoplasia I	Affinity Capture-Western Co-purification	BioGRID	15199122
MLL	ALL-1 \| CXXC7 \| FLJ11783 \| HRX \| HTRX1 \| KMT2A \| MLL/GAS7 \| MLL1A \| TET1-MLL \| TRX1	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	-	HPRD,BioGRID	11313484 \|12393701 \|12482972
MYST1	FLJ14040 \| KAT8 \| MOF \| hMOF	MYST histone acetyltransferase 1	MOF interacts with MLL.	BIND	15960975
OXT	MGC126890 \| MGC126892 \| OT \| OT-NPI	oxytocin, prepropeptide	Biochemical Activity	BioGRID	14607844
PLXNB1	KIAA0407 \| MGC149167 \| PLEXIN-B1 \| PLXN5 \| SEP	plexin B1	-	HPRD	12123608
PPIE	CYP-33 \| MGC111222 \| MGC3736	peptidylprolyl isomerase E (cyclophilin E)	-	HPRD,BioGRID	11313484
PPP1R15A	GADD34	protein phosphatase 1, regulatory (inhibitor) subunit 15A	-	HPRD,BioGRID	10490642
RBBP5	RBQ3 \| SWD1	retinoblastoma binding protein 5	RbBP5 interacts with MLL.	BIND	15960975
RBBP5	RBQ3 \| SWD1	retinoblastoma binding protein 5	Affinity Capture-Western Co-purification	BioGRID	15199122
RNF2	BAP-1 \| BAP1 \| DING \| HIPI3 \| RING1B \| RING2	ring finger protein 2	Ring2 interacts with MLL.	BIND	15960975
SMARCB1	BAF47 \| INI1 \| RDT \| SNF5 \| SNF5L1 \| Sfh1p \| Snr1 \| hSNFS	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	Affinity Capture-Western	BioGRID	10490642
TAF9	AD-004 \| AK6 \| CGI-137 \| CINAP \| CIP \| MGC1603 \| MGC3647 \| MGC5067 \| MGC:1603 \| MGC:3647 \| MGC:5067 \| TAF2G \| TAFII31 \| TAFII32 \| TAFIID32	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	-	HPRD	10821850
WDR5	BIG-3 \| SWD3	WD repeat domain 5	WDR5 interacts with MLL. This interaction was modeled on a demonstrated interaction between WDR5 from an unspecified species and human MLL.	BIND	15960975
WDR5	BIG-3 \| SWD3	WD repeat domain 5	Affinity Capture-Western Co-purification	BioGRID	15199122

Section VI. microRNA annotation

miRNA family	Target position			miRNA ID	miRNA seq
miRNA family	UTR start	UTR end	Match method	miRNA ID	miRNA seq
miR-101	2689	2695	m8	hsa-miR-101	UACAGUACUGUGAUAACUGAAG
miR-124/506	2219	2225	m8	hsa-miR-506	UAAGGCACCCUUCUGAGUAGA
miR-124/506	2219	2225	m8	hsa-miR-124^brain	UAAGGCACGCGGUGAAUGCC
miR-128	2691	2697	1A	hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
				hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
				hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
				hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
				hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
				hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
miR-130/301	2486	2492	m8	hsa-miR-130a^brain	CAGUGCAAUGUUAAAAGGGCAU
				hsa-miR-301	CAGUGCAAUAGUAUUGUCAAAGC
				hsa-miR-130b^brain	CAGUGCAAUGAUGAAAGGGCAU
				hsa-miR-454-3p	UAGUGCAAUAUUGCUUAUAGGGUUU
miR-136	2360	2366	1A	hsa-miR-136	ACUCCAUUUGUUUUGAUGAUGGA
miR-137	2167	2174	1A,m8	hsa-miR-137	UAUUGCUUAAGAAUACGCGUAG
miR-142-3p	1242	1248	m8	hsa-miR-142-3p	UGUAGUGUUUCCUACUUUAUGGA
miR-148/152	2583	2590	1A,m8	hsa-miR-148a	UCAGUGCACUACAGAACUUUGU
				hsa-miR-152^brain	UCAGUGCAUGACAGAACUUGGG
				hsa-miR-148b	UCAGUGCAUCACAGAACUUUGU
				hsa-miR-148a	UCAGUGCACUACAGAACUUUGU
				hsa-miR-152^brain	UCAGUGCAUGACAGAACUUGGG
				hsa-miR-148b	UCAGUGCAUCACAGAACUUUGU
miR-150	537	544	1A,m8	hsa-miR-150	UCUCCCAACCCUUGUACCAGUG
miR-182	2857	2864	1A,m8	hsa-miR-182	UUUGGCAAUGGUAGAACUCACA
miR-193	2624	2630	m8	hsa-miR-193a	AACUGGCCUACAAAGUCCCAG
miR-193	2624	2630	m8	hsa-miR-193b	AACUGGCCCUCAAAGUCCCGCUUU
miR-218	2031	2037	m8	hsa-miR-218^brain	UUGUGCUUGAUCUAACCAUGU
miR-221/222	954	961	1A,m8	hsa-miR-221^brain	AGCUACAUUGUCUGCUGGGUUUC
miR-221/222	954	961	1A,m8	hsa-miR-222^brain	AGCUACAUCUGGCUACUGGGUCUC
miR-27	2691	2697	m8	hsa-miR-27a^brain	UUCACAGUGGCUAAGUUCCGC
miR-27	2691	2697	m8	hsa-miR-27b^brain	UUCACAGUGGCUAAGUUCUGC
miR-30-5p	1364	1371	1A,m8	hsa-miR-30a-5p	UGUAAACAUCCUCGACUGGAAG
				hsa-miR-30c^brain	UGUAAACAUCCUACACUCUCAGC
				hsa-miR-30d^SZ	UGUAAACAUCCCCGACUGGAAG
				hsa-miR-30b^SZ	UGUAAACAUCCUACACUCAGCU
				hsa-miR-30e-5p	UGUAAACAUCCUUGACUGGA
miR-338	2279	2285	1A	hsa-miR-338^brain	UCCAGCAUCAGUGAUUUUGUUGA
miR-342	2493	2499	m8	hsa-miR-342^brain	UCUCACACAGAAAUCGCACCCGUC
miR-369-3p	1478	1484	m8	hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
miR-370	2372	2378	m8	hsa-miR-370^brain	GCCUGCUGGGGUGGAACCUGG
miR-377	2492	2498	m8	hsa-miR-377	AUCACACAAAGGCAACUUUUGU
miR-380-5p	2808	2815	1A,m8	hsa-miR-380-5p	UGGUUGACCAUAGAACAUGCGC
miR-380-5p	2808	2815	1A,m8	hsa-miR-563	AGGUUGACAUACGUUUCCC
miR-381	1408	1414	1A	hsa-miR-381	UAUACAAGGGCAAGCUCUCUGU
miR-494	1290	1296	m8	hsa-miR-494^brain	UGAAACAUACACGGGAAACCUCUU
miR-495	2563	2569	1A	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-496	1395	1401	1A	hsa-miR-496	AUUACAUGGCCAAUCUC
miR-93.hd/291-3p/294/295/302/372/373/520	1445	1452	1A,m8	hsa-miR-93^brain	AAAGUGCUGUUCGUGCAGGUAG
				hsa-miR-302a	UAAGUGCUUCCAUGUUUUGGUGA
				hsa-miR-302b	UAAGUGCUUCCAUGUUUUAGUAG
				hsa-miR-302c	UAAGUGCUUCCAUGUUUCAGUGG
				hsa-miR-302d	UAAGUGCUUCCAUGUUUGAGUGU
				hsa-miR-372	AAAGUGCUGCGACAUUUGAGCGU
				hsa-miR-373	GAAGUGCUUCGAUUUUGGGGUGU
				hsa-miR-520e	AAAGUGCUUCCUUUUUGAGGG
				hsa-miR-520a	AAAGUGCUUCCCUUUGGACUGU
				hsa-miR-520b	AAAGUGCUUCCUUUUAGAGGG
				hsa-miR-520c	AAAGUGCUUCCUUUUAGAGGGUU
				hsa-miR-520d	AAAGUGCUUCUCUUUGGUGGGUU
				hsa-miR-93^brain	AAAGUGCUGUUCGUGCAGGUAG
				hsa-miR-302a	UAAGUGCUUCCAUGUUUUGGUGA
				hsa-miR-302b	UAAGUGCUUCCAUGUUUUAGUAG
				hsa-miR-302c	UAAGUGCUUCCAUGUUUCAGUGG
				hsa-miR-302d	UAAGUGCUUCCAUGUUUGAGUGU
				hsa-miR-372	AAAGUGCUGCGACAUUUGAGCGU
				hsa-miR-373	GAAGUGCUUCGAUUUUGGGGUGU
				hsa-miR-520e	AAAGUGCUUCCUUUUUGAGGG
				hsa-miR-520a	AAAGUGCUUCCCUUUGGACUGU
				hsa-miR-520b	AAAGUGCUUCCUUUUAGAGGG
				hsa-miR-520c	AAAGUGCUUCCUUUUAGAGGGUU
				hsa-miR-520d	AAAGUGCUUCUCUUUGGUGGGUU
miR-96	2858	2864	1A	hsa-miR-96^brain	UUUGGCACUAGCACAUUUUUGC
miR-96	2858	2864	1A	hsa-miR-96^brain	UUUGGCACUAGCACAUUUUUGC

SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.

Gene Page: KMT2A