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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA0232 Gene

protein-coding GIFtS: 42
GCID: GC04P006783

KIAA0232

Search for KIAA0232
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
KIAA0232¹ ²
Uncharacterized Protein KIAA0232²

External Ids:	HGNC: 28992¹	Entrez Gene: 9778²	Ensembl: ENSG00000170871⁷	UniProtKB: Q92628³

Export aliases for KIAA0232 gene to outside databases

Previous GC identifers: GC04P006690 GC04P006906 GC04P006849 GC04P006902 GC04P006715

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

GeneCards Summary for KIAA0232 Gene:

KIAA0232 (KIAA0232) is a protein-coding gene. GO annotations related to this gene include ATP binding.

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NT_006051.18 NC_018915.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA0232 gene promoter:
Max1 ER-alpha STAT5B STAT1 Pax-6 STAT1alpha Gfi-1 MZF-1 Pax-3 c-Myc
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA0232

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0232

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

Entrez Gene cytogenetic band: 4p16.1 Ensembl cytogenetic band: 4p16.1 HGNC cytogenetic band: 4p16.1

KIAA0232 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0232 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P006783: view genomic region (about GC identifiers)

Start:	6,783,102 bp from pter	End:	6,885,899 bp from pter
Size:	102,798 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K0232_HUMAN, Q92628 (See protein sequence)

Recommended Name: Uncharacterized protein KIAA0232

Size: 1395 amino acids; 154789 Da

Sequence caution: Sequence=BAA13221.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: A7E2D2

Explore the universe of human proteins at neXtProt for KIAA0232: NX_Q92628

Explore proteomics data for KIAA0232 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q92628

KIAA0232 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001094060.1 NP_055558.2

ENSEMBL proteins:

ENSP00000426815 ENSP00000303928 ENSP00000413739

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

ProtoNet protein and cluster: Q92628

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--

KIAA0232 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for KIAA0232:

Increased Hepatitis C virus re

Animal Models:

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KIAA0232

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for KIAA0232 (Q92628^{2, 3} ENSP00000303928⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC35F6	Q8N357²^,³	MINT-65063 I2D: score=4
YWHAE	P62258³, ENSP00000264335⁴	I2D: score=2 STRING: ENSP00000264335
YWHAZ	P63104³, ENSP00000309503⁴	I2D: score=2 STRING: ENSP00000309503
WNK1	Q9H4A3³, ENSP00000313059⁴	I2D: score=1 STRING: ENSP00000313059
ALB	P02768³, ENSP00000295897⁴	I2D: score=1 STRING: ENSP00000295897

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 KIAA0232 (K0232)

Search CenterWatch for drugs/clinical trials and news about KIAA0232 / K0232

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for KIAA0232 gene (2 alternative transcripts):

NM_001100590.1 NM_014743.2

Unigene Cluster for KIAA0232:

KIAA0232

Hs.79276 [show with all ESTs]

Unigene Representative Sequence: NM_014743

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

ENST00000503278 ENST00000508423 ENST00000307659(uc003gjr.4) ENST00000503069

ENST00000425103(uc003gjq.4)

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Additional mRNA sequence:

AF143884.1 AK124715.1 BC150286.1 CR457160.1 D86985.3 EF553521.1

8 DOTS entries:

DT.118111 DT.91701977 DT.100700972 DT.100785040 DT.121260491 DT.92433565 DT.100012762 DT.121260484

24/230 AceView cDNA sequences (see all 230):

AI468228 BG387474 CD679592 AA663574 BU741773 BU178853 BM128586 AI434782

AW069515 BM683617 D86985 BE501060 AA256519 BQ184741 BM678073 T33116

AI824920 AA421928 BM311982 BQ000832 CK300683 BU618566 AA702636 W73363

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

KIAA0232 expression in normal human tissues (normalized intensities) KIAA0232 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GAAAATGGAA

About this image

KIAA0232 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/2 selected tissues (see all 2) fully expand


Brain (Nervous System) fully expand to see all 2 entries
posterior singulate

Blood (Hematopoietic System)
Proerythroblasts Hematopoietic Bone Marrow

See KIAA0232 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA0232

SOURCE GeneReport for Unigene cluster: Hs.79276

SABiosciences Custom PCR Arrays for KIAA0232

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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 KIAA0232 gene from 5/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	D5Ertd579e^{1 , 5}	DNA segment, Chr 5, ERATO Doi 579, expressed^{1, 5}	88.53(n)¹ 88.72(a)¹		5 (19.18 cM)⁵ 320661¹ NM_001081232.2¹ NP_001074701.2¹ 36584788⁵
chicken (Gallus gallus)	Aves	KIAA0232¹	KIAA0232	84.51(n) 86.51(a)		422860 XM_420806.2 XP_420806.2
lizard (Anolis carolinensis)	Reptilia	KIAA0232⁶	KIAA0232	73(a)	1 ↔ 1	4(79398811-79457388)
African clawed frog (Xenopus laevis)	Amphibia	Xl.30950²	Xenopus laevis transcribed sequences	80.57(n)		48033214
zebrafish (Danio rerio)	Actinopterygii	wufc44c06²	Transcribed sequence with weak similarity to protein more	70.1(n)		57050020

ENSEMBL Gene Tree for KIAA0232 (if available)
TreeFam Gene Tree for KIAA0232 (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, ⁴UniProtKB, 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 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192186064^1,2		--	6713389(+)	`GGTCTG/TGAGTG`	1	--	int¹		0	--	--	--	--
rs150576281^1,2		--	6713419(+)	`GGAAAC/GAAACA`	1	--	int¹		0	--	--	--	--
rs372625266^1,2	C	--	6713520(+)	`CCAAAA/CGGGCA`	1	--	int¹		0	--	--	--	--
rs139619855^1,2	C	--	6782464(+)	`CCACCA/GGCTCC`	2	--	us2k¹		0	--	--	--	--
rs184404485^1,2		--	6782582(+)	`AAGTAA/GTAAAA`	2	--	us2k¹		0	--	--	--	--
rs189697703^1,2		--	6782585(+)	`TAATAA/TAAAAA`	2	--	us2k¹		0	--	--	--	--
rs200597140^1,2		--	6782603(+)	`ATAAA-/CTCTGTG`	2	--	us2k¹		0	--	--	--	--
rs112519605^1,2	C	--	6782604(+)	`TAAAC-/TCTGTG TGTGT`	1	--	us2k¹		1		CSA	2
rs144602826^1,2	C	--	6782604(+)	`TAAAC-/TCTG TGTGT`	1	--	us2k¹		0	--	--	--	--
rs4426776^1,2	C,H	--	6782605(+)	`AAACtC/Gtgtgt`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA0232 (6783102 - 6885899 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/13 variations for KIAA0232 (see all 13): About this table

Variant ID	Type	Subtype	PubMed ID
esv2727011	CNV	Deletion	23290073
esv2727009	CNV	Deletion	23290073
dgv859e201	CNV	Deletion	23290073
esv2727010	CNV	Deletion	23290073
esv1704198	CNV	Insertion	17803354
esv1098216	CNV	Insertion	17803354
esv23947	CNV	Loss	19812545
nsv878529	CNV	Loss	21882294
nsv4216	CNV	Loss	18451855
esv23110	CNV	Gain	19812545

Human Gene Mutation Database (HGMD): KIAA0232

SABiosciences Cancer Mutation PCR Assays

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

KIAA0232 for disorders About MalaCards

KIAA0232 for disorders About GeneDecksing

Genetic Association Database (GAD): KIAA0232

Export disorders for KIAA0232 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 KIAA0232 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with KIAA0232)

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

Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)^{1, 2, 3} Nagase T....Nomura N. (1996)
New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)^{1, 4} Gieger C....Soranzo N. (2011)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (2002)
A human MAP kinase interactome. (PubMed id 20936779)¹ Bandyopadhyay S....Ideker T. (2010)
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)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)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)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)

(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: 9778	HGNC: 28992	AceView: KIAA0232	Ensembl:ENSG00000170871	euGenes: HUgn9778
ECgene: KIAA0232	H-InvDB: KIAA0232

(According to HUGE)
About This Section

HUGE: KIAA0232

(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 KIAA0232	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA0232 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA0232 gene:
Search GeneIP for patents involving KIAA0232

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
About This Section


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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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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

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

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KIAA0232 Gene

KIAA0232

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KIAA0232 Gene

KIAA0232

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