Gene Report

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Basic Info

Approved Symbol	KLHL20
Symbol Alias	KLEIP, KHLHX
Approved Name	kelch-like family member 20
Previous Name	kelch-like 20 (Drosophila)
Location	1q25.1
Position	chr1:173714941-173786702, 1
External Links	HGNC: 25056 Entrez Gene: 27252 Ensembl: ENSG00000076321 UCSC: uc001gjc.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs11578058	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 21)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003779	actin binding	molecular function	IEA	24

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0035455	response to interferon-alpha	biological process	TAS[20389280]	1
GO:0030425	dendrite	cellular component	IEA	65
GO:0006895	Golgi to endosome transport	biological process	IMP[24768539]	1
GO:1990390	protein K33-linked ubiquitination	biological process	IDA[24768539]	1
GO:0016605	PML body	cellular component	IDA[20389280]	7
GO:0015031	protein transport	biological process	IEA	21
GO:0015629	actin cytoskeleton	cellular component	TAS[10888605]	18
GO:0005515	protein binding	molecular function	IPI[20389280]	563
GO:0019964	interferon-gamma binding	molecular function	IDA[20389280]	1
GO:0007010	cytoskeleton organization	biological process	TAS[10888605]	11
GO:0004842	ubiquitin-protein transferase activity	molecular function	IDA[20389280]; IDA[24768539]	12
GO:0048471	perinuclear region of cytoplasm	cellular component	IEA	50
GO:0043066	negative regulation of apoptotic process	biological process	IMP[20389280]	46
GO:0031463	Cul3-RING ubiquitin ligase complex	cellular component	IDA[20389280]	1
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	biological process	IDA[20389280]	13
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0005802	trans-Golgi network	cellular component	IDA[24768539]	10
GO:0016567	protein ubiquitination	biological process	IDA[20389280]	18
GO:0030424	axon	cellular component	IEA	39
GO:0005794	Golgi apparatus	cellular component	IDA	60

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 9)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
KLHL20	CRMP1	NO	yeast 2-hybrid	16169070
KLHL20	ECT2	NO	yeast 2-hybrid	14668487
KLHL20	KIAA1377	NO	yeast 2-hybrid	16169070
KLHL20	LUC7L2	NO	yeast 2-hybrid	16169070
KLHL20	PIN1	NO	yeast 2-hybrid	16169070
KLHL20	GBP2	NO	yeast 2-hybrid	16169070
KLHL20	C1orf103	NO	yeast 2-hybrid	16169070
KLHL20	C14orf1	NO	yeast 2-hybrid	16169070
KLHL20	ACTA1	NO	in vitro	14668487

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11578058	chr1:173743991 - 173743991(1)	downstream_gene_variant; intron_variant	1(0/1/0)

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)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)
1q24.2-q25.1	chr1:167200000-176100000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr1:173714941..173786702 View in gBrowse