Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	CUX2
Previous Symbol	CUTL2
Symbol Alias	KIAA0293, CDP2
Approved Name	cut-like homeobox 2
Previous Name	cut-like 2 (Drosophila)
Location	12q24.12
Position	chr12:111034024-111350554, 1
External Links	HGNC: 19347 Entrez Gene: 23316 Ensembl: ENSG00000111249 UCSC: uc001tsa.3
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Jacobsen, N. J.,2001(a)	Other variant: CUX2_1191C/T, CUX2_2607G/C, CUX2_277G/A, CUX2_3732T/C	No evidence was found for the involvement of variants within the CUX2 coding, or 5' UTR sequence in producing susceptibility to bipolar disorder.	Negative	Comment on Study
Yosifova, A.,2009	SNP: rs3847953, rs933305	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Glaser, B.,2005(b)	SNP: rs3847953	In summary, we have provided evidence for association between BPD and polymorphisms in a small region of chromosome 12q23-q24 that includes the 30 end of the gene encoding CUX2 and a hypothetical protein, FLJ32356.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[15656993]	283
GO:0043565	sequence-specific DNA binding	molecular function	IDA[15656993]	29

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0050775	positive regulation of dendrite morphogenesis	biological process	ISS	2
GO:0061003	positive regulation of dendritic spine morphogenesis	biological process	ISS	3
GO:0010628	positive regulation of gene expression	biological process	ISS	23
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0007614	short-term memory	biological process	ISS	5
GO:0050890	cognition	biological process	IMP[15389760]	11
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[15656993]	62
GO:0051965	positive regulation of synapse assembly	biological process	ISS	5
GO:0071310	cellular response to organic substance	biological process	IEA	5
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	molecular function	ISS	10
GO:2000463	positive regulation of excitatory postsynaptic membrane potential	biological process	ISS	6
GO:0006351	transcription, DNA-templated	biological process	IEA	103

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 19)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3742006	chr12:111322447 - 111322447(1)	synonymous_variant	1(1/0/0)
rs3847953	chr12:111327660 - 111327660(1)	intron_variant	2(1/1/0)
rs3843673	chr12:111308695 - 111308695(1)	downstream_gene_variant; intron_variant	1(1/0/0)
rs3742007	chr12:111310159 - 111310159(1)	synonymous_variant	1(0/1/0)
rs933305	chr12:111300483 - 111300483(1)	intron_variant; upstream_gene_variant	2(1/1/0)

rs_ID	Location	Functional Annotation
rs6490077	chr12:111353873 - 111353873(1)	downstream_gene_variant
rs7970490	chr12:111318634 - 111318634(1)	intron_variant
rs6490055	chr12:111331169 - 111331169(1)	intron_variant
rs6490042	chr12:111281256 - 111281256(1)	intron_variant
rs7297186	chr12:111340374 - 111340374(1)	downstream_gene_variant; intron_variant
rs10219736	chr12:111350598 - 111350598(1)	downstream_gene_variant
rs10849930	chr12:111301432 - 111301432(1)	intron_variant; upstream_gene_variant
rs6490072	chr12:111346691 - 111346691(1)	intron_variant
rs3803167	chr12:111347782 - 111347782(1)	synonymous_variant
rs7398833	chr12:111349088 - 111349088(1)	3_prime_UTR_variant
rs933307	chr12:111297733 - 111297733(1)	downstream_gene_variant; intron_variant
rs1344438	chr12:111298150 - 111298150(1)	downstream_gene_variant; intron_variant
rs1362006	chr12:111304418 - 111304418(1)	downstream_gene_variant; intron_variant
rs10774619	chr12:111336121 - 111336121(1)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
CUX2_2607G/C	point mutation	1 (0/1/0)
CUX2_277G/A	point mutation	1 (0/1/0)
CUX2_1191C/T	point mutation	1 (0/1/0)
CUX2_3732T/C	point mutation	1 (0/1/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q	chr12:38200000-133851895	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr12:111034024..111350554 View in gBrowse