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KRT80 Gene

protein-coding GIFtS: 50
GCID: GC12M052562

Keratin 80

See KRT80-related disease
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)
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Aliases
Keratin 80¹ ²		Keratin B20²
KB20² ³ ⁵		Keratin, Type II Cytoskeletal 80²
Type-II Keratin Kb20² ³		keratin-80²
CK-80² ³		Type II Keratin²
K80² ³		Cytokeratin-80³
cytokeratin-80²		Keratin-80³

External Ids:	HGNC: 27056¹	Entrez Gene: 144501²	Ensembl: ENSG00000167767⁷	OMIM: 611161⁵	UniProtKB: Q6KB66³

Export aliases for KRT80 gene to outside databases

Previous GC identifers: GC12M050850 GC12M049596

(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 KRT80 Gene:

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are

subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a

type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This

protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of

differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II

keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully

functional isoforms have been found for this gene.(provided by RefSeq, Oct 2010)

GeneCards Summary for KRT80 Gene:

KRT80 (keratin 80) is a protein-coding gene. Diseases associated with KRT80 include cervix uteri carcinoma in situ. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT78.

Gene Wiki entry for KRT80 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_000012.11 NT_029419.13 NC_018923.2

Regulatory elements:

Regulatory transcription factor binding sites in the KRT80 gene promoter:
GR E2F-4 E2F-3a E2F-5 GR-beta E2F-2 CBF-A E2F E2F-1 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRT80 promoter sequence

Search Chromatin IP Primers for KRT80

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT80

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

Entrez Gene cytogenetic band: 12q13.13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13.13

KRT80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT80 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M052562: view genomic region (about GC identifiers)

Start:	52,562,780 bp from pter	End:	52,585,784 bp from pter
Size:	23,005 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: K2C80_HUMAN, Q6KB66 (See protein sequence)

Recommended Name: Keratin, type II cytoskeletal 80

Size: 452 amino acids; 50525 Da

Subunit: Heterotetramer of two type I and two type II keratins

Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to

basic) (40-55 and 56-70 kDa, respectively)

Secondary accessions: Q6P1A5 Q7Z3Q0

Alternative splicing: 3 isoforms: Q6KB66-1 Q6KB66-2 Q6KB66-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KRT80: NX_Q6KB66

Explore proteomics data for KRT80 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See KRT80 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001074961.1 NP_872313.2

ENSEMBL proteins:

ENSP00000369361 ENSP00000378292

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	antibodies-online proteins for KRT80 (2 products)
	antibodies-online peptides for KRT80

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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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HGNC Gene Families:

IFF2: Intermediate filaments type II, keratins (basic)

2 InterPro protein domains:

IPR001664 IF

IPR003054 Keratin_II

Graphical View of Domain Structure for InterPro Entry Q6KB66

ProtoNet protein and cluster: Q6KB66

3 Blocks protein domains:

IPB001664 Intermediate filament protein

IPB002957 Type I keratin signature

IPB003054 Type II keratin signature

UniProtKB/Swiss-Prot: K2C80_HUMAN, Q6KB66

Similarity: Belongs to the intermediate filament family

Find genes that share domains with KRT80 About GenesLikeMe

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	IEA	--

Find genes that share ontologies with KRT80 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for KRT80

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT80

(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 COMPARTMENTS:

Compartment	Confidence
cytosol	3
cytoskeleton	2
mitochondrion	2
nucleus	2
extracellular	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005882	intermediate filament	--	--
GO:0045095	keratin filament	IEA	--

Find genes that share ontologies with KRT80 About GenesLikeMe

(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 KRT80
Interactions:

Search GeneGlobe Interaction Network for KRT80

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

Selected Interacting proteins for KRT80 (Q6KB66³ ENSP00000378292⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UCHL5	Q9Y5K5³, ENSP00000356425⁴	I2D: score=1 STRING: ENSP00000356425
ATG101	Q9BSB4³	I2D: score=1
ATG12	O94817³	I2D: score=1
GABARAPL1	Q9H0R8³	I2D: score=1
GOSR1	O95249³	I2D: score=1

About this table

(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 KRT80 (K2C80)

(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 KRT80 gene (2 alternative transcripts):

NM_001081492.1 NM_182507.2

Unigene Cluster for KRT80:

Keratin 80

Hs.140978 [show with all ESTs]

Unigene Representative Sequence: BC065180

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

ENST00000313234(uc001rzy.3) ENST00000394815(uc001rzw.3 uc001rzx.3)

ENST00000466011

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		hsa-miR-623 hsa-miR-1321 hsa-miR-429 hsa-miR-330-5p hsa-miR-3942-5p hsa-miR-298 hsa-miR-326 hsa-miR-200b

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Additional mRNA sequence:

AJ717743.1 AL162069.1 BC033114.1 BC047308.1 BC065180.1

9 DOTS entries:

DT.91680653 DT.97858078 DT.101986265 DT.100044463 DT.100738875 DT.121117310 DT.121118505 DT.422219

DT.121117904

Selected AceView cDNA sequences (see all 109):

AI621365 BQ890197 BQ955144 BQ949255 BU754036 BQ688514 BU151185 AL556079

R63727 AW591182 BU527047 AI433717 AA172302 AW732390 BQ960355 BQ101170

BQ919890 BM126903 BG824850 CR596084 BG742161 BQ895790 BG874400 CK818919

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for KRT80 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	·	8c
SP1:
SP2:																	-
SP3:																	-

ECgene alternative splicing isoforms for KRT80

(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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KRT80 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCAGTACAGC

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KRT80 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


NULL (Uncategorized)
Vascular endothelial growth factor-induced embryoid bodies

Neurons
Glycinergic Amacrine Cells Inner Nuclear Layer

Eye (Sensory Organs)
Glycinergic Amacrine Cells Inner Nuclear Layer

KRT80 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

KRT80 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.140978

UniProtKB/Swiss-Prot: K2C80_HUMAN, Q6KB66

Tissue specificity: Weakly expressed in tongue, but not skin or in any other tissues or organs examined

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT80

(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 KRT80 gene from Selected species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Krt80^{1 , 5}	keratin 80^{1, 5}	85.32(n)¹ 85.62(a)¹		15 (56.78 cM)⁵ 74127¹ NM_028770.2¹ NP_083046.2¹ 101349571⁵
chicken (Gallus gallus)	Aves	KRT80¹	keratin 80	64.13(n) 53.28(a)		431302 XM_428853.4 XP_428853.3
lizard (Anolis carolinensis)	Reptilia	KRT80⁶	keratin 80	49(a)	1 ↔ 1	2(95942009-95980050)
zebrafish (Danio rerio)	Actinopterygii	KRT80⁶	keratin 80	41(a)	1 ↔ 1	8(7652900-7663140) ENSDARG00000034836

ENSEMBL Gene Tree for KRT80 (if available)
TreeFam Gene Tree for KRT80 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for KRT80 gene

KRT78²

Selected SIMAP similar genes for KRT80 using alignment to 1 protein entry: K2C80_HUMAN(see all similar genes):

KRTHB6 KRT4 KRT5 KRT6C KRT6A KRT6B

KRT7 KRT72 KRT3 KRT75 KRT8 KRT71

KRT73 KRT76 KRT79 KRT1B KRT78 KRT84

Find genes that share paralogs with KRT80 About GenesLikeMe

(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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201803131^1,2		--	49604727(+)	`GTGTG-/CATGTGC`	2	--	int¹		0	--	--	--	--
rs144035210^1,2	C	--	52396419(+)	`GTGGTA/GCCTGG`	2	--	ds500¹		0	--	--	--	--
rs147300906^1,2		--	52396514(+)	`CTGTGC/TTTATA`	2	--	ds500¹		0	--	--	--	--
rs184265921^1,2		--	52396533(+)	`TTAAAC/TACACT`	2	--	ds500¹		0	--	--	--	--
rs139295161^1,2		--	52396541(+)	`ACTATA/GAAGAA`	2	--	ds500¹		0	--	--	--	--
rs116855334^1,2	F	--	52396561(+)	`CTGGGC/TGCTGT`	2	--	ds500¹		1		NA	120
rs7296443^1,2	C,F,A	--	52396593(+)	`tacttC/Tgggag`	2	--	ds500¹		8		NA WA CSA	14
rs189215063^1,2	C	--	52396606(+)	`CGAGGC/TGGGCA`	2	--	ds500¹		0	--	--	--	--
rs7296563^1,2	C,F,A	--	52396653(+)	`caacaC/Tggtga`	2	--	ds500¹		7		NA WA CSA	12
rs7310795^1,2	C,F,A	--	52396680(+)	`aaaatG/Acaaaa`	2	--	ds500¹		9		NA WA CSA	17

HapMap Linkage Disequilibrium report for KRT80 (52562780 - 52585784 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for KRT80: About this table

Variant ID	Type	Subtype	PubMed ID
nsv899086	CNV	Loss	21882294
nsv832409	CNV	Loss	17160897
dgv511e1	CNV	Complex	17122850

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing KRT80

DNA2.0 Custom Variant and Variant Library Synthesis for KRT80

(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: 611161 OMIM disorders: --

1 disease for KRT80:
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cervix uteri carcinoma in situ

1 inferred disease relationship from the University of Copenhagen DISEASES database for KRT80:

Cervix uteri carcinoma in situ

Find genes that share disorders with KRT80 About GenesLikeMe

Export disorders for KRT80 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 KRT80 gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with KRT80)

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

New consensus nomenclature for mammalian keratins. (PubMed id 16831889)^{1, 3} Schweizer J....Wright M.W. (J. Cell Biol. 2006)
Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (PubMed id 15737194)^{1, 2} Rogers M.A....Schweizer J. (J. Invest. Dermatol. 2005)
The interaction between ubiquitin C-terminal hydrolase 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)¹ Fang Y....Shen X. (Mol. Cell. Biochem. 2012)
Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (amp 2011)
Against the rules: human keratin K80: two functional alternative splice variants, K80 and K80.1, with special cellular localization in a wide range of epithelia. (PubMed id 20843789)¹ Langbein L....Schweizer J. (J. Biol. Chem. 2010)
Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (Cell 2010)
Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (Mol. Cell 2008)

(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: 144501	HGNC: 27056	AceView: LOC144501	Ensembl:ENSG00000167767	euGenes: HUgn144501
ECgene: KRT80	H-InvDB: KRT80

(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 KRT80	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KRT80 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 KRT80 gene:
Search GeneIP for patents involving KRT80

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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KRT80 Gene

Keratin 80

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KRT80 Gene

Keratin 80

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