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KPTN Gene

protein-coding GIFtS: 47
GCID: GC19M047978

Kaptin (Actin Binding Protein)

(Previous name: kaptin (actin-binding protein))

See KPTN-related disease
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Kaptin (Actin Binding Protein)¹ ²
Kaptin (Actin-Binding Protein)¹ ²
Actin-Associated Protein 2E4² ³
2E4² ⁵
MRT41² ⁵
kaptin²

External Ids:	HGNC: 6404¹	Entrez Gene: 11133²	Ensembl: ENSG00000118162⁷	OMIM: 615620⁵	UniProtKB: Q9Y664³

Export aliases for KPTN gene to outside databases

Previous GC identifers: GC19M048625 GC19M048369 GC19M052654 GC19M052670 GC19M052657 GC19M044406

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KPTN Gene:

This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an

important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41.

Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Apr 2014)

GeneCards Summary for KPTN Gene:

KPTN (kaptin (actin binding protein)) is a protein-coding gene. Diseases associated with KPTN include mental retardation, autosomal recessive 41. GO annotations related to this gene include actin binding.

UniProtKB/Swiss-Prot: KPTN_HUMAN, Q9Y664

Function: May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May

play a role in actin rearrangements that accompany platelet activation and stereocilia formation

Gene Wiki entry for KPTN (Kaptin) Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000019.9 NT_011109.17 NC_018930.2

Regulatory elements:

Regulatory transcription factor binding sites in the KPTN gene promoter:
Max1 AML1a MIF-1 C/EBPalpha GATA-1 CREB NRF-2 HOXA5 deltaCREB c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KPTN promoter sequence

Search Chromatin IP Primers for KPTN

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KPTN

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

Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.3

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

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M047978: view genomic region (about GC identifiers)

Start:	47,978,400 bp from pter	End:	47,987,525 bp from pter
Size:	9,126 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KPTN_HUMAN, Q9Y664 (See protein sequence)

Recommended Name: Kaptin

Size: 436 amino acids; 48080 Da

Subunit: Associates with one end of F-actin filaments

Sequence caution: Sequence=AAD39358.1; Type=Frameshift; Positions=8, 14, 410, 419;

Secondary accessions: B3KN86 Q96GT1

Explore the universe of human proteins at neXtProt for KPTN: NX_Q9Y664

Explore proteomics data for KPTN at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See KPTN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001278225.1 NP_008990.2

ENSEMBL proteins:

ENSP00000337850 ENSP00000470364 ENSP00000469446 ENSP00000472291 ENSP00000442579

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	antibodies-online peptides for KPTN

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q9Y664

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: KPTN_HUMAN, Q9Y664

Function: May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May

play a role in actin rearrangements that accompany platelet activation and stereocilia formation

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--

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Phenotypes:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Kptn):

adipose tissue	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system

Find genes that share phenotypes with KPTN About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for KPTN

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

KPTN_HUMAN, Q9Y664: Cytoplasm. Cytoplasm, perinuclear region. Cell projection, stereocilium. Cell projection,

growth cone. Note=Perinuclear at the tips of stereocilium in the inner ear. Localized at sites of actin

polymerization in motile fibroblasts and neuronal growth cones

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	4
nucleus	4
cytosol	2
plasma membrane	2

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Gene Ontology (GO): Selected cellular component terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	1372044
GO:0005815	microtubule organizing center	TAS	1372044
GO:0015629	actin cytoskeleton	TAS	10099934
GO:0030426	growth cone	IEA	--
GO:0032420	stereocilium	IEA	--

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for KPTN
Interactions:

Search GeneGlobe Interaction Network for KPTN

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

Selected Interacting proteins for KPTN (Q9Y664³ ENSP00000337850⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PKIG	Q9Y2B9³, ENSP00000338067⁴	I2D: score=2 STRING: ENSP00000338067
ACTC1	P68032³, ENSP00000290378⁴	I2D: score=1 STRING: ENSP00000290378
ITFG2	Q969R8³, ENSP00000228799⁴	I2D: score=1 STRING: ENSP00000228799
RAB25	P57735³, ENSP00000354376⁴	I2D: score=1 STRING: ENSP00000354376
TSPAN7	P41732³, ENSP00000367743⁴	I2D: score=1 STRING: ENSP00000367743

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006928	cellular component movement	TAS	10099934
GO:0007015	actin filament organization	TAS	10099934
GO:0007605	sensory perception of sound	NAS	10099934

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for KPTN

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for KPTN gene (2 alternative transcripts):

NM_001291296.1 NM_007059.3

Unigene Cluster for KPTN:

Kaptin (actin binding protein)

Hs.25441 [show with all ESTs]

Unigene Representative Sequence: NM_007059

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

ENST00000338134(uc002pgy.3 uc010xys.2) ENST00000600551 ENST00000594208

ENST00000595554 ENST00000600271 ENST00000594139 ENST00000595484 ENST00000602193

ENST00000598699 ENST00000536339

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Additional mRNA sequence:

AF105369.1 AK023996.1 AK225419.1 AK298672.1 BC009249.2

7 DOTS entries:

DT.412723 DT.95374050 DT.100730098 DT.121497313 DT.95374051 DT.97817091 DT.435399

Selected AceView cDNA sequences (see all 98):

CR619560 BG749006 CR618331 AW079333 BQ953596 CR590339 AI591027 BG388698

BM761752 BE502285 AA580276 AI005300 BC009249 BQ423458 Z41308 BM844920

BM760725 AI637754 CD251799 BQ960142 BG253326 AI380182 T17326 BX280638

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for KPTN About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	^	3	^	4	^	5a	·	5b	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14
SP1:																	-		-								-
SP2:											-		-				-		-								-
SP3:			-		-		-										-		-
SP4:
SP5:																	-		-

ECgene alternative splicing isoforms for KPTN

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KPTN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCGTGCTCAC

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KPTN expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Brain (Nervous System) fully expand to see all 3 entries
Cerebral Cortex

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Ovary (Reproductive System)
Oviduct

Pancreas (Endocrine System)
Islets of Langerhans

Testis (Reproductive System)
Leydig Cells Testis Interstitium

KPTN Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

KPTN Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.25441

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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)
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This gene was present in the common ancestor of chordates.

Orthologs for KPTN gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kptn^{1 , 5}	kaptin^{1, 5}	84.19(n)¹ 88.84(a)¹		7 (8.75 cM)⁵ 70394¹ NM_133727.2¹ NP_598488.2¹ 16119895⁵
lizard (Anolis carolinensis)	Reptilia	KPTN⁶	kaptin (actin binding protein)	63(a)	1 ↔ 1	GL343564.1(213829-236609)
African clawed frog (Xenopus laevis)	Amphibia	Xl.25661²	Xenopus laevis transcribed sequence with weak similarity more	74.89(n)		48048863
zebrafish (Danio rerio)	Actinopterygii	57046817²	--	69.95(n)		57046817

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146926980^1,2		--	47978104(+)	`CTGGGG/TTCTCA`	1	--	ds500¹		0	--	--	--	--
rs62128682^1,2	F	--	47978171(+)	`TCTGTT/CCCACA`	1	--	ds500¹		2		NA	122
rs114361187^1,2	C,F	--	47978277(+)	`AGCCTT/GGGATT`	1	--	ds500¹		1		WA	118
rs181197095^1,2		--	47978302(+)	`TCCCTC/TTCCCT`	1	--	ds500¹		0	--	--	--	--
rs138042459^1,2		--	47978423(+)	`TGGACA/GTATAA`	1	--	ut3¹		0	--	--	--	--
rs185423925^1,2		--	47978426(+)	`ACGTAC/TAAATA`	1	--	ut3¹		0	--	--	--	--
rs189002409^1,2		--	47978501(+)	`ATAGGC/GACATT`	1	--	ut3¹		0	--	--	--	--
rs143523450^1,2	C	--	47978612(+)	`ACCAGC/TGGCTG`	1	--	ut3¹		0	--	--	--	--
rs147203632^1,2		--	47978613(+)	`CCAGCA/GGCTGG`	1	--	ut3¹		0	--	--	--	--
rs148664923^1,2	C,F	--	47978638(+)	`TGAGTC/TGCCCC`	1	--	ut3¹		1		EU	649

HapMap Linkage Disequilibrium report for KPTN (47978400 - 47987525 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for KPTN: About this table

Variant ID	Type	Subtype	PubMed ID
nsv912202	CNV	Loss	21882294
nsv428366	CNV	Loss	18775914
dgv1107e1	CNV	Complex	17122850

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing KPTN

DNA2.0 Custom Variant and Variant Library Synthesis for KPTN

(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.)
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OMIM gene information: 615620
OMIM disorders: 615637
1 disease for KPTN:
About MalaCards

mental retardation, autosomal recessive 41

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Export disorders for KPTN 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)
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PubMed articles for KPTN gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with KPTN)

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

2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear. (PubMed id 10099934)^{1, 2, 3, 9} Bearer E.L. and Abraham M.T. (Eur. J. Cell Biol. 1999)
2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4. (PubMed id 11409409)^{1, 2, 9} Bearer E.L....Jackson C.L. (Ann. Hum. Genet. 2000)
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. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells. (PubMed id 1372044)^{1, 2} Bearer E.L. (J. Neurosci. 1992)
Actin dynamics in platelets. (PubMed id 12019562)^{1, 9} Bearer E.L....Li Z. (Int. Rev. Cytol. 2002)
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. (PubMed id 24239382)¹ Baple E.L....Crosby A.H. (Am. J. Hum. Genet. 2014)
The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)¹ Varjosalo M....Gstaiger M. (Cell Rep 2013)
N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)² Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 11133	HGNC: 6404	AceView: KPTN	Ensembl:ENSG00000118162	euGenes: HUgn11133
ECgene: KPTN	H-InvDB: KPTN

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KPTN	Pharmacogenomics, SNPs, Pathways

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

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

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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KPTN Gene

Kaptin (Actin Binding Protein)

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KPTN Gene

Kaptin (Actin Binding Protein)

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