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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA2022 Gene

protein-coding GIFtS: 45
GCID: GC0XM073872

KIAA2022

Explore 2 diseases affiliated with
KIAA2022 via

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
KIAA2022¹ ²
Uncharacterized Protein KIAA2022²

External Ids:	HGNC: 29433¹	Entrez Gene: 340533²	Ensembl: ENSG00000050030⁷	OMIM: 300524⁵	UniProtKB: Q5QGS0³

Export aliases for KIAA2022 gene to outside databases

Previous GC identifers: GC0XM072167 GC0XM072820 GC0XM073736 GC0XM067587

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

Entrez Gene summary for KIAA2022:

An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in

the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.(provided by RefSeq, Mar

2009)

(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_000023.10 NC_018934.1 NT_011669.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA2022 gene promoter:
GR SRF TBP Pax-6 SRF (504 AA) Nkx2-5 STAT1alpha STAT3 IRF-7A En-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KIAA2022 promoter sequence

Search SABiosciences Chromatin IP Primers for KIAA2022

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA2022

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

Entrez Gene cytogenetic band: Xq13.3 Ensembl cytogenetic band: Xq13.3 HGNC cytogenetic band: Xq13.3

KIAA2022 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA2022 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM073872: view genomic region (about GC identifiers)

Start:	73,952,684 bp from pter	End:	74,145,320 bp from pter
Size:	192,637 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: K2022_HUMAN, Q5QGS0 (See protein sequence)

Recommended Name: Uncharacterized protein KIAA2022

Size: 1516 amino acids; 167551 Da

Sequence caution: Sequence=BAC23118.1; Type=Erroneous initiation;

Secondary accessions: A7YY87 Q5JUX9 Q8IVE9

Explore the universe of human proteins at neXtProt for KIAA2022: NX_Q5QGS0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5QGS0

KIAA2022 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001008537.1

ENSEMBL proteins:

ENSP00000362567 ENSP00000407055 ENSP00000055682

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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	IBA	--
GO:0043625	delta DNA polymerase complex	IBA	--

KIAA2022 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

ProtoNet protein and cluster: Q5QGS0

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003887	DNA-directed DNA polymerase activity	IBA	--
GO:0008408	3'-5' exonuclease activity	IBA	--

KIAA2022 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
Products:

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(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 KIAA2022

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/10 Interacting proteins for KIAA2022 (Q5QGS0^{2, 3} ENSP00000055682⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TERF1	P54274³, ENSP00000276603⁴	I2D: score=1 STRING: ENSP00000276603
TERF2	Q15554³, ENSP00000254942⁴	I2D: score=1 STRING: ENSP00000254942
CHRAC1	ENSP00000220913⁴	STRING: ENSP00000220913
CRCP	ENSP00000378736⁴	STRING: ENSP00000378736
MAD2L2	ENSP00000235310⁴	STRING: ENSP00000235310

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000084	S phase of mitotic cell cycle	IBA	--
GO:0006287	base-excision repair, gap-filling	IBA	--
GO:0006297	nucleotide-excision repair, DNA gap filling	IBA	--
GO:0007346	regulation of mitotic cell cycle	IBA	--
GO:0019985	NOT translesion synthesis	IBA	--

KIAA2022 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

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for KIAA2022
Search CenterWatch for drugs/clinical trials and news about KIAA2022 / K2022

(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 KIAA2022 gene:

NM_001008537.2

Unigene Cluster for KIAA2022:

KIAA2022

Hs.124128 [show with all ESTs]

Unigene Representative Sequence: NM_001008537

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

ENST00000373468(uc004eby.3) ENST00000424929 ENST00000055682

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Additional cDNA sequence:

AB095942.1 AK128651.1 AK307471.1 AY563507.1 BC038798.1 BC152557.1

2 DOTS entries:

DT.205828 DT.75105839

24/33 AceView cDNA sequences (see all 33):

Z45363 AI167637 BC038798 BE669952 AI885844 AA350307 AB095942 AI801888

BF433828 AK128651 AI498249 BI912827 AW953251 BX477655 Z41078 AW242757

AA862257 BX111589 AL700133 BX477656 CA776064 F06484 BX951403 BM976023

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

KIAA2022 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGTGAAAGA

About this image

KIAA2022 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Placenta

Chorioallantoic Placenta

Extraembryonic Angioblasts

Endothelium

Brain

Thalamus

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Cartilage-like cells (Differentiation of s...)

Cartilage

See KIAA2022 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA2022

SOURCE GeneReport for Unigene cluster: Hs.124128

UniProtKB/Swiss-Prot: K2022_HUMAN, Q5QGS0

Tissue specificity: Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum.

Also expressed in other tissues but to a lesser extent

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In Situ
Assay Products:

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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 KIAA2022 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	C77370^{1 , 5}	expressed sequence C77370^{1, 5}	87.75(n)¹ 85.99(a)¹		X (46.48 cM)⁵ 245555¹ NM_001077354.2¹ NP_001070822.2¹ 104077434⁵
chicken (Gallus gallus)	Aves	KIAA2022¹	KIAA2022	70.12(n) 65.44(a)		422325 XM_420300.3 XP_420300.3
lizard (Anolis carolinensis)	Reptilia	KIAA2022⁶	--	61(a)	1 ↔ 1	GL343813.1(146489-156796)
zebrafish (Danio rerio)	Actinopterygii	Dr.15375²	Transcribed sequences	87.98(n)		CK361953.1

ENSEMBL Gene Tree for KIAA2022 (if available)
TreeFam Gene Tree for KIAA2022 (if available)

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

Paralogs for KIAA2022 gene

REV3L²

KIAA2022 for paralogs About GeneDecksing

(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 X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs58435804^1,2	C	--	67780883(+)	`TACTAC/AGTTAA`	1	--	int¹		2		WA CSA	3
rs190725345^1,2		--	73952364(+)	`TCCAGC/TGAGAA`	1	--	ds500¹		0	--	--	--	--
rs182920563^1,2		--	73952448(+)	`GCTCAC/TGTGTG`	1	--	ds500¹		0	--	--	--	--
rs188673366^1,2		--	73952588(+)	`ACTGAG/TTTCGG`	1	--	ds500¹		0	--	--	--	--
rs192317329^1,2		--	73952860(+)	`AAGAAC/TCCCCT`	1	--	ut3¹		0	--	--	--	--
rs182896160^1,2		--	73952926(+)	`GGGATC/TTTGTT`	1	--	ut3¹		0	--	--	--	--
rs187498941^1,2		--	73952963(+)	`TTGGTA/GTAGGG`	1	--	ut3¹		0	--	--	--	--
rs192262979^1,2		--	73952983(+)	`TCGCAC/TTCCTA`	1	--	ut3¹		0	--	--	--	--
rs184145298^1,2		--	73953205(+)	`CATATA/CTTTTT`	1	--	ut3¹		0	--	--	--	--
rs188307213^1,2		--	73953264(+)	`ATTGGC/TCTGTG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA2022 (73952684 - 74145320 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KIAA2022: --
Locus Specific Mutation Databases (LSDB): KIAA2022

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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

KIAA2022 for disorders About GeneDecksing

OMIM gene information: 300524 OMIM disorders: --

UniProtKB/Swiss-Prot: K2022_HUMAN, Q5QGS0

Note=A chromosomal aberration involving KIAA2022 is found in 2 patients with severe mental retardation (MR).

Pericentric inversion inv(X)(p22.3;q13.2). The Xq13 breakpoint lies within a predicted intron of KIAA2022 gene.

KIAA2022 protein is no longer expressed in these patients lymphocytes

2 diseases for KIAA2022: About MalaCards

intellectual disability cerebritis

1 disease from the University of Copenhagen DISEASES database for KIAA2022:

Intellectual disability

Export disorders for KIAA2022 gene to outside databases

(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 KIAA2022 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KIAA2022)

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

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. (PubMed id 15466006)^{1, 2, 3} Cantagrel V.... Villard L. (2004)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)¹ Giannone R.J....Liu Y. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
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: 340533	HGNC: 29433	AceView: KIAA2022	Ensembl:ENSG00000050030	euGenes: HUgn340533
ECgene: KIAA2022	H-InvDB: KIAA2022

(According to HUGE)
About This Section

HUGE: KIAA2022

(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 KIAA2022	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA2022 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA2022 gene:
Search GeneIP for patents involving KIAA2022

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
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 , 13 May 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 KIAA2022 gene at Home site.

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KIAA2022 Gene

KIAA2022

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KIAA2022 Gene

KIAA2022

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