Gene Name	KLHL3
Gene ID	26249
Gene Full Name	kelch like family member 3
Gene Alias	PHA2D
Transcripts	ENSG00000146021
Virus	EBV
Gene Type	protein-coding
HPA Location Info
Membrane Info	Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Uniport_ID	Q9UH77
HGNC ID	HGNC:6354
OMIM ID	605775
Summary	This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
3001367	chr5	34	2	0	36	View

Data ID	Experiment type	Sample number	Platform
GSE42867	Expression array	12	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
C   GSE246060	Chip-seq	26	Illumina NovaSeq 6000 (Homo sapiens)
GSE45919	Expression array	24	Illumina HumanHT-12 V4.0 expression beadchip
GSE198332	Methylation profiling (Array)	7	Infinium MethylationEPIC
GSE223328	Expression array	16	Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Probe Name Version]
GSE208281	RNA-seq	50	Illumina NextSeq 500 (Homo sapiens)
GSE100458	Expression array	14	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array [CDF: Brainarray HGU133Plus2_Hs_ENTREZG_v21]
GSE165194	RNA-seq	3	Illumina NextSeq 500 (Homo sapiens)
C   GSE246059	ATAC-seq	8	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE177046	RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
GSE135644	Expression array	10	Sentrix Human-6 v2 Expression BeadChip
C   GSE225248	Chip-seq	12	Illumina NextSeq 500 (Homo sapiens)
GSE102203	Expression array	10	[HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [probe set (exon) version]
GSE85599	Expression array	17	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE12452	Expression array	41	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
GSE58240	Expression array	32	Illumina HumanHT-12 V4.0 expression beadchip
GSE181906	RNA-seq	24	Illumina NovaSeq 6000 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE246060 - KLHL3 peak across samples

Peak Plot

> Dataset: GSE246059 - KLHL3 peak across samples

Peak Plot

> Dataset: GSE225248 - KLHL3 peak across samples

Peak Plot