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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1984 Gene

protein-coding GIFtS: 38
GCID: GC09P139690

KIAA1984

Explore 3 diseases affiliated with
KIAA1984 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
KIAA1984¹ ²
BA216L13.7¹
MGC15438¹
PARF²
RP11-216L13.9²
Uncharacterized Coiled-Coil Domain-Containing Protein KIAA1984²

External Ids:	HGNC: 28236¹	Entrez Gene: 84960²	Ensembl: ENSG00000213213⁷	UniProtKB: Q5T5S1³

Export aliases for KIAA1984 gene to outside databases

Previous GC identifers: GC09P135053 GC09P136970 GC09P136971 GC09P138810 GC09P109149

(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_000009.11 NC_018920.1 NT_024000.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA1984 gene promoter:
NF-1/L NF-1 Pax-6 E47 CREB c-Rel deltaCREB IRF-7A Cart-1 LyF-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA1984

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1984

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

Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3

KIAA1984 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1984 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P139690: view genomic region (about GC identifiers)

Start:	139,690,790 bp from pter	End:	139,704,494 bp from pter
Size:	13,705 bases	Orientation:	plus 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: K1984_HUMAN, Q5T5S1 (See protein sequence)

Recommended Name: Uncharacterized coiled-coil domain-containing protein KIAA1984

Size: 534 amino acids; 62689 Da

Sequence caution: Sequence=BAB85570.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAI12681.1; Type=Erroneous gene model prediction;

Secondary accessions: B2RP89 C9JD38 Q6P2D9 Q8NAI4 Q8TF18

Alternative splicing: 4 isoforms: Q5T5S1-1 Q5T5S1-2 Q5T5S1-3 Q5T5S1-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1984: NX_Q5T5S1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5T5S1

KIAA1984 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001034463.4

ENSEMBL proteins:

ENSP00000419222 ENSP00000338013

Human Recombinant Protein Products:

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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: Q5T5S1

(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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(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 KIAA1984

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for KIAA1984 (ENSP00000338013⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SPINK7	ENSP00000274565⁴	STRING: ENSP00000274565
CDKN2A	ENSP00000355153⁴	STRING: ENSP00000355153
C19orf57	ENSP00000254336⁴	STRING: ENSP00000254336
CALCOCO2	ENSP00000258947⁴	STRING: ENSP00000258947
MDFI	ENSP00000230321⁴	STRING: ENSP00000230321

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 KIAA1984
Search CenterWatch for drugs/clinical trials and news about KIAA1984 / K1984

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIAA1984 gene (2 alternative transcripts):

NM_032874.2 NM_001039374.4

Unigene Cluster for KIAA1984:

KIAA1984

Hs.728796 [show with all ESTs]

Unigene Representative Sequence: AK092639

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

ENST00000479371(uc004cjf.3) ENST00000371682 ENST00000338005 ENST00000415992

ENST00000430612 ENST00000481601 ENST00000496839 ENST00000488880 ENST00000459985

ENST00000484858

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Additional cDNA sequence:

AK090683.1 AK092639.1 AK094220.1 BC064582.1 BC137317.1 BC137318.1

15 DOTS entries:

DT.97791360 DT.121161442 DT.97813555 DT.91812163 DT.121161395 DT.424363 DT.75159507 DT.100031298

DT.99933223 DT.97813524 DT.121161367 DT.412851 DT.97775708 DT.121161436 DT.452890

24/671 AceView cDNA sequences (see all 671):

BQ925352 NM_024718 BU156593 BM547854 BE857280 AI337287 CA427785 BE793937

BC007542 AI004172 BG057020 AI524021 BX387188 AI365637 CR613672 BQ651968

BM764553 AI239920 BU620860 BM711992 BQ287917 BU188402 CB528413 CA424742

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

KIAA1984 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACCACAGCT

About this image

KIAA1984 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Primitive gut tube-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA1984 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA1984

SOURCE GeneReport for Unigene cluster: Hs.728796

SABiosciences Custom PCR Arrays for KIAA1984

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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 animals.

Orthologs for KIAA1984 gene from 3/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100857648¹	uncharacterized LOC100857648	55.68(n) 39.87(a)		100857648 XM_003643227.1 XP_003643275.1
lizard (Anolis carolinensis)	Reptilia	KIAA1984⁶	--	40(a)	1 ↔ 1	GL344343.1(7398-12860)
fruit fly (Drosophila melanogaster)	Insecta	CG14127⁶	--	13(a)	1 ↔ 1	3L(11874484-11876646)

ENSEMBL Gene Tree for KIAA1984 (if available)
TreeFam Gene Tree for KIAA1984 (if available)

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

Paralogs for KIAA1984 gene

CCDC151²

KIAA1984 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 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141618175^1,2		--	139688845(+)	`GTGCTA/GGGATT`	1	--	us2k¹		0	--	--	--	--
rs114593113^1,2	F,	--	139688879(+)	`GCGCCG/AGGCTG`	1	--	us2k¹		1		WA	118
rs73556098^1,2	C,F,	--	139688884(+)	`GGGCTG/AAGCTT`	1	--	us2k¹		4		WA CSA	124
rs117258287^1,2		--	139688918(+)	`CAAGTG/AAGTGG`	1	--	us2k¹		1		EA	120
rs183595266^1,2		--	139688933(+)	`GGGTTA/GACAGG`	1	--	us2k¹		0	--	--	--	--
rs73556100^1,2	C,F,	--	139688939(+)	`ACAGGG/AAATCG`	1	--	us2k¹		3		WA CSA	122
rs187451917^1,2		--	139688940(+)	`CAGGGA/GATCGG`	1	--	us2k¹		0	--	--	--	--
rs192302428^1,2		--	139689018(+)	`CAGGCA/GGCTGC`	1	--	us2k¹		0	--	--	--	--
rs145388706^1,2		--	139689066(+)	`GGCAGC/GAGAGA`	1	--	us2k¹		0	--	--	--	--
rs116562244^1,2	F,	--	139689140(+)	`CAGTGC/TCAGGA`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for KIAA1984 (139690790 - 139704494 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for KIAA1984
6 CNVs: 3785 9631 30350 5415 23294 30359
1 Indel: 13216

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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

KIAA1984 for disorders About GeneDecksing

3 diseases for KIAA1984: About MalaCards

chronic lymphocytic leukemia lymphocytic leukemia leukemia

Human Genome Epidemiology (HuGE) Navigator: KIAA1984 (2 documents)

Export disorders for KIAA1984 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 KIAA1984 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KIAA1984)

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

Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)^{1, 2, 3} Nagase T.... Ohara O. (2001)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Single nucleotide polymorphisms of matrix metalloprot einase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study E piLymph. (PubMed id 21048031)¹ Casabonne D....de Sanjose S. (2010)
Identification of novel ARF binding proteins by two-hybrid screening. (PubMed id 16582619)¹ Tompkins V.... Quelle D.E. (2006)
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)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (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: 84960	HGNC: 28236	AceView: C9orf86andKIAA1984andMGC14141	Ensembl:ENSG00000213213	euGenes: HUgn84960
ECgene: KIAA1984	H-InvDB: KIAA1984

(According to HUGE)
About This Section

HUGE: KIAA1984

(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 KIAA1984	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1984 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA1984 gene:
Search GeneIP for patents involving KIAA1984

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
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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 , 26 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

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

Hot genes Disease genes KIAA1984 gene at Home site.

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KIAA1984 Gene

KIAA1984

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KIAA1984 Gene

KIAA1984

Aliasesfor KIAA1984 gene

Summariesfor KIAA1984 gene

Genomic Viewsfor KIAA1984 gene

Proteinsfor KIAA1984 gene

Protein Domains /Familiesfor KIAA1984 gene

Functionfor KIAA1984 gene

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Expression for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

Expression
for KIAA1984 gene

Orthologs
for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene

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for KIAA1984 gene