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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA2018 Gene

protein-coding GIFtS: 40
GCID: GC03M113367

KIAA2018

Search for KIAA2018
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
KIAA2018¹ ²
Basic Helix-Loop-Helix Domain-Containing Protein KIAA2018²

External Ids:	HGNC: 30494¹	Entrez Gene: 205717²	Ensembl: ENSG00000176542⁷	UniProtKB: Q68DE3³

Export aliases for KIAA2018 gene to outside databases

Previous GC identifers: GC03U900029 GC03M114653 GC03M114694 GC03M114693 GC03M114855 GC03M110742

(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_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA2018 gene promoter:
NF-1 NF-1/L C/EBPbeta HOXA3 XBP-1 AP-4 Roaz POU2F1 HSF2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA2018

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA2018

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

Entrez Gene cytogenetic band: 3q13.2 Ensembl cytogenetic band: 3q13.2 HGNC cytogenetic band: 3q13.2

KIAA2018 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA2018 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M113367: view genomic region (about GC identifiers)

Start:	113,367,232 bp from pter	End:	113,415,493 bp from pter
Size:	48,262 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: K2018_HUMAN, Q68DE3 (See protein sequence)

Recommended Name: Basic helix-loop-helix domain-containing protein KIAA2018

Size: 2245 amino acids; 241681 Da

Subcellular location: Nucleus (Potential)

Sequence caution: Sequence=BAB14518.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=CAH18277.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q7Z3L9 Q8IVF3 Q9H8T4

Explore the universe of human proteins at neXtProt for KIAA2018: NX_Q68DE3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q68DE3

KIAA2018 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001009899.2

ENSEMBL proteins:

ENSP00000420752 ENSP00000420721 ENSP00000320794

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0016020	membrane	IEA	--

KIAA2018 for ontologies About GeneDecksing

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

KIAA2018 for domains About GeneDecksing

2 InterPro domains/families:

IPR011598 HLH_dom

IPR001382 Glyco_hydro_47

Graphical View of Domain Structure for InterPro Entry Q68DE3

ProtoNet protein and cluster: Q68DE3

UniProtKB/Swiss-Prot: K2018_HUMAN, Q68DE3

Similarity: Contains 1 bHLH (basic helix-loop-helix) 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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Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0046983	protein dimerization activity	IEA	--

KIAA2018 for ontologies About GeneDecksing

(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 KIAA2018

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for KIAA2018 (Q68DE3³ ENSP00000320794⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NFYC	Q13952³, ENSP00000396620⁴	I2D: score=2 STRING: ENSP00000396620
CREB1	P16220³	I2D: score=1

About this table

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIAA2018
Search CenterWatch for drugs/clinical trials and news about KIAA2018 / K2018

(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 KIAA2018 gene:

NM_001009899.2

Unigene Cluster for KIAA2018:

KIAA2018

Hs.632570 [show with all ESTs]

Unigene Representative Sequence: NM_001009899

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

ENST00000491165 ENST00000496826 ENST00000478658 ENST00000316407(uc003eal.3 uc003eam.3)

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Additional cDNA sequence:

AB095938.1 BC043383.1 BX537728.1 CR749439.1

6 DOTS entries:

DT.454086 DT.99968530 DT.75121030 DT.95217706 DT.92022315 DT.120882792

24/70 AceView cDNA sequences (see all 70):

BX456786 AA258136 R77491 AI129525 BU172123 AL598860 BM968129 AL599379

CR590163 BQ006722 AW089788 BC043383 BU674900 AF150324 AI567719 BI324975

AI675881 AI418791 AW269618 BU173011 BG497855 BX507683 BQ081887 BI713134

GeneLoc Exon Structure

(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

KIAA2018 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGCAGTGT

About this image

KIAA2018 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Yolk Sac

Definitive Yolk Sac

Erythroid Progenitor Cells

Blood

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA2018 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA2018

SOURCE GeneReport for Unigene cluster: Hs.632570

SABiosciences Custom PCR Arrays for KIAA2018

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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 KIAA2018 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gm608^{1 , 5}	predicted gene 608^{1, 5}	86(n)¹ 83.97(a)¹		16 (28.51 cM)⁵ 207806¹ NM_001029889.2¹ NP_001025060.1¹ 44173246⁵
chicken (Gallus gallus)	Aves	KIAA2018⁶	Uncharacterized protein	67(a)	1 ↔ 1	1(82462013-82494729)
lizard (Anolis carolinensis)	Reptilia	KIAA2018⁶	--	59(a)	1 ↔ 1	GL343473.1(330955-355651)
African clawed frog (Xenopus laevis)	Amphibia	Xl.33642²	Xenopus laevis transcribed sequences	74.31(n)		CA788718.1
zebrafish (Danio rerio)	Actinopterygii	si:ch73-196k8.2⁶	si:ch73-196k8.2	33(a)	1 ↔ 1	24(21800046-21811241)

ENSEMBL Gene Tree for KIAA2018 (if available)
TreeFam Gene Tree for KIAA2018 (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 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs114853422^1,2	F,	--	113366744(+)	`TGTAGG/CCTAGC`	1	--	ds500¹		1		WA	118
rs183448671^1,2		--	113366881(+)	`CTATCA/GGGAAA`	1	--	ds500¹		0	--	--	--	--
rs147250102^1,2		--	113367131(+)	`TGTTAC/TAGCAA`	1	--	ds500¹		0	--	--	--	--
rs139672212^1,2		--	113367175(+)	`GCAAGA/CCAAGC`	1	--	ds500¹		0	--	--	--	--
rs200071797^1,2	C	--	113367176(-)	`GGCTTG/TTCTTG`	1	--	ds500¹		0	--	--	--	--
rs76326518^1,2	C,F,	--	113367213(+)	`ATGCAA/GTGATC`	1	--	ds500¹		1		WA	118
rs76157823^1,2	F,	--	113367340(+)	`AAATTT/CCCAAA`	1	--	ut3¹		1		EA	120
rs188668243^1,2		--	113367448(+)	`TAGGAA/CAATCC`	1	--	ut3¹		0	--	--	--	--
rs191889587^1,2		--	113367458(+)	`CTGATA/CATATT`	1	--	ut3¹		0	--	--	--	--
rs144758728^1,2		--	113367676(+)	`AATTTC/GTGAAG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA2018 (113367232 - 113415493 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KIAA2018
1 Indel: 59085

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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 KIAA2018 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KIAA2018)

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

A human MAP kinase interactome. (PubMed id 20936779)¹ Bandyopadhyay S....Ideker T. (2010)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (2001)

(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: 205717	HGNC: 30494	AceView: KIAA2018	Ensembl:ENSG00000176542	euGenes: HUgn205717
ECgene: KIAA2018	H-InvDB: KIAA2018

(According to HUGE)
About This Section

HUGE: KIAA2018

(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 KIAA2018	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA2018 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA2018 gene:
Search GeneIP for patents involving KIAA2018

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

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 KIAA2018 gene at Home site.

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KIAA2018 Gene

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