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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCTD18 Gene

protein-coding GIFtS: 41
GCID: GC02M201353

potassium channel tetramerisation domain containing 18

Search for KCTD18
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Potassium Channel Tetramerisation Domain Containing 18¹ ²
6530404F10Rik¹ ²
FLJ31322¹
FLJ37818¹
BTB/POZ Domain-Containing Protein KCTD18²

External Ids:	HGNC: 26446¹	Entrez Gene: 130535²	Ensembl: ENSG00000155729⁷	UniProtKB: Q6PI47³

Export aliases for KCTD18 gene to outside databases

Previous GC identifers: GC02M201180 GC02M201061 GC02M193206

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCTD18 gene promoter:
LHX3b/Lhx3b HNF-3beta CBF-C CBF-A POU2F1 CBF-B POU2F1a LHX3a/Lhx3a CP1A CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCTD18 promoter sequence

Search SABiosciences Chromatin IP Primers for KCTD18

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCTD18

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.1 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33.1

KCTD18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCTD18 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M201353: view genomic region (about GC identifiers)

Start:	201,353,675 bp from pter	End:	201,384,507 bp from pter
Size:	30,833 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KCD18_HUMAN, Q6PI47 (See protein sequence)

Recommended Name: BTB/POZ domain-containing protein KCTD18

Size: 426 amino acids; 46739 Da

Secondary accessions: Q53T21 Q6NW26 Q6PCD8 Q8N9B7 Q96N73

Alternative splicing: 3 isoforms: Q6PI47-1 Q6PI47-2 Q6PI47-3 (No experimental confirmation available. Ref.1 (AK095137) sequence is in conflict in position: 43:M->I)

Explore the universe of human proteins at neXtProt for KCTD18: NX_Q6PI47

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6PI47

KCTD18 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689600.2

ENSEMBL proteins:

ENSP00000352941 ENSP00000386751

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KCTD18 for domains About GeneDecksing

3 InterPro domains/families:

IPR000210 BTB/POZ-like

IPR011333 BTB/POZ_fold

IPR003131 T1-type_BTB

Graphical View of Domain Structure for InterPro Entry Q6PI47

ProtoNet protein and cluster: Q6PI47

1 Blocks protein family: IPB000210 BTB/POZ domain

UniProtKB/Swiss-Prot: KCD18_HUMAN, Q6PI47

Similarity: Contains 1 BTB (POZ) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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2 GenomeRNAi human phenotypes for KCTD18:

Decreased POU5F1-GFP protein e

Increased cell death HMECs cel

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KCTD18

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0051260	protein homooligomerization	IEA	--

KCTD18 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for KCTD18 gene:

NM_152387.2

Unigene Cluster for KCTD18:

Potassium channel tetramerisation domain containing 18

Hs.605775 [show with all ESTs]

Unigene Representative Sequence: BC045189

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000359878(uc002uvs.3) ENST00000409157(uc002uvt.3) ENST00000468413

ENST00000478816(uc002uvu.1) ENST00000447556

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Additional cDNA sequence:

AK055884.1 AK095137.1 AK290867.1 BC045189.1 BC059366.1 BC067755.1

6 DOTS entries:

DT.436165 DT.100745205 DT.411929 DT.92418378 DT.95159293 DT.40307370

24/68 AceView cDNA sequences (see all 68):

AI281421 AW339549 AW070292 BQ224321 AI566925 NM_152387 CR596892 AA708329

BC067755 N23090 AI355934 BM992087 AA767454 AA730044 AA424064 AA814384

CA396085 CF264997 AA765603 BU618216 N23063 AV700737 AW166822 AK055884

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KCTD18 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7
SP1:					-
SP2:

ECgene alternative splicing isoforms for KCTD18

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KCTD18 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTATTCAGT

About this image
See KCTD18 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCTD18

SOURCE GeneReport for Unigene cluster: Hs.605775

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for KCTD18 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kctd18^{1 , 5}	potassium channel tetramerisation domain containing more^{1, 5}	83.98(n)¹ 82.61(a)¹		1 (28.86 cM)⁵ 51960¹ NM_001159864.1¹ NP_001153336.1¹ 57955248⁵
chicken (Gallus gallus)	Aves	KCTD18¹	potassium channel tetramerisation domain containing more	68.6(n) 67(a)		424069 XM_421925.3 XP_421925.2
lizard (Anolis carolinensis)	Reptilia	KCTD18⁶	--	66(a)	1 ↔ 1	1(117734841-117740771)
African clawed frog (Xenopus laevis)	Amphibia	Xl.32838²	Xenopus laevis transcribed sequence with weak similarity more	75.35(n)		AW645620.1

ENSEMBL Gene Tree for KCTD18 (if available)
TreeFam Gene Tree for KCTD18 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145352863^1,2		--	201353357(+)	`TCTGAA/TAATTC`	1	--	int¹		0	--	--	--	--
rs79328589^1,2	F,	--	201353798(+)	`CTGTTT/ATATGA`	1	--	ut3¹		2		NA EA	240
rs17630981^1,2	C,F,H,	--	201354244(+)	`AAATCG/ATTGAA`	1	--	ut3¹		25		NA NS EA WA	3747
rs182163291^1,2		--	201354356(+)	`GCCTTC/GATCTA`	1	--	ut3¹		0	--	--	--	--
rs147679751^1,2		--	201354474(+)	`ATCCTC/TGGGTT`	1	--	ut3¹		0	--	--	--	--
rs140704895^1,2		--	201354532(+)	`TTATTC/TGTTGT`	1	--	ut3¹		0	--	--	--	--
rs78978383^1,2	F,	--	201354647(+)	`TGGAGC/GCTTAA`	1	--	ut3¹		1		WA	118
rs145315071^1,2		--	201354655(+)	`TAACCA/GTTGAA`	1	--	ut3¹		0	--	--	--	--
rs16833578^1,2	C,	--	201354676(-)	`AGGAAT/CGGAGG`	1	--	ut3¹ ese³		4		MN NA EA	426
rs117421269^1,2		--	201354736(+)	`CCTCTG/CCTGCA`	1	--	ut3¹		1		EA	120

HapMap Linkage Disequilibrium report for KCTD18 (201353675 - 201384507 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KCTD18
1 CNV: 90215

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KCTD18 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KCTD18)

Utopia: connect your pdf to the dynamic
world of online information

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 130535	HGNC: 26446	AceView: FLJ31322	Ensembl:ENSG00000155729	euGenes: HUgn130535
ECgene: KCTD18	H-InvDB: KCTD18

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KCTD18	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KCTD18 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KCTD18 gene:
Search GeneIP for patents involving KCTD18

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes KCTD18 gene at Home site.

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KCTD18 Gene

potassium channel tetramerisation domain containing 18

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KCTD18 Gene

potassium channel tetramerisation domain containing 18

Aliasesfor KCTD18 gene

Summariesfor KCTD18 gene

Genomic Viewsfor KCTD18 gene

Proteinsfor KCTD18 gene

Protein Domains /Familiesfor KCTD18 gene

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for KCTD18 gene

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for KCTD18 gene

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for KCTD18 gene

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for KCTD18 gene

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for KCTD18 gene

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for KCTD18 gene

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for KCTD18 gene

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for KCTD18 gene

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