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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NOTO Gene

protein-coding GIFtS: 34
GCID: GC02P073429

notochord homeobox

(Previous name: notochord homolog (Xenopus laevis) )

Explore 2 diseases affiliated with
NOTO 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
Notochord Homeobox¹ ²
Notochord Homolog (Xenopus Laevis)¹
Homeobox Protein Notochord²
Notochord Homolog²

External Ids:	HGNC: 31839¹	Entrez Gene: 344022²	Ensembl: ENSG00000214513⁷	UniProtKB: A8MTQ0³

Export aliases for NOTO gene to outside databases

Previous GC identifers: GC02P073341 GC02P073283 GC02P073165

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

UniProtKB/Swiss-Prot: NOTO_HUMAN, A8MTQ0

Function: Transcription regulator acting downstream of both FOXA2 and T during notochord development. Required for node

morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts

upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for

axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate (By similarity)

(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_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NOTO gene promoter:
HFH-3 NF-1/L NF-1 GR-beta Nkx2-5 HNF-3beta GATA-2 FOXI1 HEN1 GR-alpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for NOTO

Epigenetics:

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

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

Entrez Gene cytogenetic band: 2p13.2 Ensembl cytogenetic band: 2p13.2 HGNC cytogenetic band: 2p13.2

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

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P073429: view genomic region (about GC identifiers)

Start:	73,429,386 bp from pter	End:	73,439,641 bp from pter
Size:	10,256 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: NOTO_HUMAN, A8MTQ0 (See protein sequence)

Recommended Name: Homeobox protein notochord

Size: 251 amino acids; 27003 Da

Subcellular location: Nucleus (By similarity)

Secondary accessions: B4DJ59 B7ZAU5

Explore the universe of human proteins at neXtProt for NOTO: NX_A8MTQ0

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

REFSEQ proteins: NP_001127934.1

ENSEMBL proteins:

ENSP00000381486

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

NOTO 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

NOTO for domains About GeneDecksing

2 InterPro domains/families:

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry A8MTQ0

ProtoNet protein and cluster: A8MTQ0

UniProtKB/Swiss-Prot: NOTO_HUMAN, A8MTQ0

Similarity: Contains 1 homeobox DNA-binding domain

(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

Function Summary:

UniProtKB/Swiss-Prot: NOTO_HUMAN, A8MTQ0

Function: Transcription regulator acting downstream of both FOXA2 and T during notochord development. Required for node

morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts

upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for

axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate (By similarity)

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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:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

NOTO for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for NOTO:

Increased HPV18 LCR reporter a

Animal Models:
7 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Noto):

behavior/neurological	cardiovascular system	embryogenesis	limbs/digits/tail	mortality/aging
nervous system	skeleton

NOTO for phenotypes About GeneDecksing

(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 NOTO

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0009880	embryonic pattern specification	IEA	--
GO:0009953	dorsal/ventral pattern formation	IEA	--
GO:0030903	notochord development	IEA	--

NOTO 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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(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,
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About This Section

REFSEQ mRNAs for NOTO gene:

NM_001134462.1

Unigene Cluster for NOTO:

Notochord homeobox

Hs.694384 [show with all ESTs]

Unigene Representative Sequence: AK316410

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000398468(uc010yrd.2)

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		hsa-miR-10b*
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Additional cDNA sequence:

AK295936.1 AK316410.1

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

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

About this image

NOTO expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Primitive Streak

Notochord

Notochord Cells

Selective marker (cell-identifying gene)

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NOTO Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.694384

SABiosciences Custom PCR Arrays for NOTO

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In Situ
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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 NOTO gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	Q90789_CHICK⁶ F1NKM9_CHICK⁶	homeobox protein	28(a) 26(a)	possible ortholog possible ortholog	4(93271995-93275468) 4(93283414-93286676)
lizard (Anolis carolinensis)	Reptilia	NOTO⁶	--	45(a)	1 ↔ 1	GL343574.1(240972-244196)
African clawed frog (Xenopus laevis)	Amphibia	LOC397961²	Xnot protein	73.37(n)		Z19577.1
zebrafish (Danio rerio)	Actinopterygii	flh⁶	floating head	18(a)	1 ↔ 1	13(14837121-14839117)
fruit fly (Drosophila melanogaster)	Insecta	CG18599⁶	--	9(a)	1 ↔ 1	3R(14093510-14096895)

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

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

Paralogs for NOTO gene

NKX6-3² EMX2² NKX6-1² NKX6-2² EMX1²

4 SIMAP similar genes for NOTO using alignment to 1 protein entry: NOTO_HUMAN:

HOXC13 NKX2-5 HOXA4 HOXB1

NOTO 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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs183849816^1,2		--	73427393(+)	`GTGTGC/TACCAC`	1	--	us2k¹		0	--	--	--	--
rs11894720^1,2	C,H,	--	73427403(+)	`ccacaC/Actggc`	1	--	us2k¹		1		CSA	2
rs72809923^1,2	C,F,	--	73427591(+)	`GGTGCG/ATGTAT`	1	--	us2k¹		1		NA	120
rs149690497^1,2		--	73427624(+)	`ATTTGC/TATTTC`	1	--	us2k¹		0	--	--	--	--
rs188119071^1,2		--	73427698(+)	`CTTTCA/GCCCAG`	1	--	us2k¹		0	--	--	--	--
rs11894877^1,2	C,A,H,	--	73427744(+)	`acctcC/Tgcctc`	1	--	us2k¹		1		CSA	2
rs193098466^1,2		--	73427947(+)	`GCCACC/TGCGCC`	1	--	us2k¹		0	--	--	--	--
rs113778302^1,2	C,F,	--	73427948(+)	`CCACCA/GCGCCC`	1	--	us2k¹		4		WA CSA	7
rs112832071^1,2	C,	--	73428127(+)	`TCAGGG/AGTTCA`	1	--	us2k¹		1		WA	2
rs190337668^1,2		--	73428413(+)	`AGCTGC/GGTGTG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NOTO (73429386 - 73439641 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NOTO
1 Indel: 46037

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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

NOTO for disorders About GeneDecksing

2 diseases for NOTO: About MalaCards

diphyllobothriasis neuronitis

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

Diphyllobothriasis

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

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

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
The mouse homeobox gene Not is required for caudal notochord development and affected by the truncate mutation. (PubMed id 15231714)^{1, 3} Abdelkhalek H.B....Gossler A. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² 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: 344022	HGNC: 31839	Ensembl:ENSG00000214513	euGenes: HUgn344022	ECgene: NOTO
H-InvDB: NOTO

(According to HUGE)
About This Section

(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 NOTO	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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),
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About This Section


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	NOTO lysates

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTO

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Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NOTO

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
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 NOTO gene at Home site.

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NOTO Gene

notochord homeobox

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NOTO Gene

notochord homeobox

Aliasesfor NOTO gene

Summariesfor NOTO gene

Genomic Viewsfor NOTO gene

Proteinsfor NOTO gene

Protein Domains /Familiesfor NOTO gene

Functionfor NOTO gene

Pathways & Interactionsfor NOTO gene

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Transcriptsfor NOTO gene

Expression for NOTO gene

Orthologsfor NOTO gene

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Genomic Variantsfor NOTO gene

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External Searches for NOTO gene

Genome Databases showing NOTO gene

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Specialized Databases showing NOTO gene

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Aliases
for NOTO gene

Summaries
for NOTO gene

Genomic Views
for NOTO gene

Proteins
for NOTO gene

Protein Domains /
Families
for NOTO gene

Function
for NOTO gene

Pathways & Interactions
for NOTO gene

Drugs & Compounds
for NOTO gene

Transcripts
for NOTO gene

Expression
for NOTO gene

Orthologs
for NOTO gene

Paralogs
for NOTO gene

Genomic Variants
for NOTO gene

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for NOTO gene

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for NOTO gene

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for NOTO gene

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for NOTO gene