Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	KCTD12
Previous Symbol	C13orf2
Symbol Alias	KIAA1778, PFET1
Approved Name	potassium channel tetramerization domain containing 12
Previous Name	chromosome 13 open reading frame 2, "potassium channel tetramerisation domain containing 12"
Name Alias	predominantly fetal expressed T1 domain
Location	13q21
Position	chr13:76880166-76886390, -1
External Links	HGNC: 14678 Entrez Gene: 115207 Ensembl: ENSG00000178695 UCSC: uc010aeu.1
No. of Studies	2 (Positive: 0; Negative: 1; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Lim C.H., 2014	SNP: rs2073831	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study
Lee, M. T.,2011	SNP: rs2073831	Suggestive association of this gene was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0043235	receptor complex	cellular component	IEA	20

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030054	cell junction	cellular component	IEA	88
GO:0042734	presynaptic membrane	cellular component	IEA	16
GO:0051260	protein homooligomerization	biological process	IEA	13
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0044822	poly(A) RNA binding	molecular function	IDA[22681889]	44
GO:0008277	regulation of G-protein coupled receptor protein signaling pathway	biological process	IEA	5

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: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2073831	chr13:76924565 - 76924565(1)	upstream_gene_variant	2(0/1/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
13q21-33	chr13:54700000-109600000	1 (0/0/1)
13q22-32	chr13:72800000-101100000	1 (0/0/1)
Chr 13	chr13:0-114364328	1 (0/0/1)

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

Gene relationship with SZ

Reference	Description	Result Category
24914473	KCTD12 rs2073831 was significantly associated with SZ in Malays and Chinese (P= 0.024 and 0.025, respectively).	Positive

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
19605536	Upregulated in MDD patients	Pos	KCTD12

View in gBrowse

Region: chr13:76880166..76886390 View in gBrowse