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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ISX Gene

protein-coding GIFtS: 43
GCID: GC22P035462

intestine-specific homeobox

Explore 6 diseases affiliated with
ISX 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
Intestine-Specific Homeobox¹ ²
RAXLX¹ ² ³ ⁵
RAX-Like Homeobox² ³
Pix-1²
Pancreas-Intestine Homeodomain Transcription Factor²

External Ids:	HGNC: 28084¹	Entrez Gene: 91464²	Ensembl: ENSG00000175329⁷	OMIM: 612019⁵	UniProtKB: Q2M1V0³

Export aliases for ISX gene to outside databases

Previous GC identifers: GC22P033792 GC22P018424

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

Entrez Gene summary for ISX:

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development.

Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a

member of the RAXLX homeobox gene family. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ISX_HUMAN, Q2M1V0

Function: Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism

most likely by regulating BCMO1 expression in the intestine (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_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for ISX
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ISX promoter sequence

Search SABiosciences Chromatin IP Primers for ISX

Epigenetics:

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

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

Entrez Gene cytogenetic band: 22q12.3 Ensembl cytogenetic band: 22q12.3 HGNC cytogenetic band: 22q12.3

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

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P035462: view genomic region (about GC identifiers)

Start:	35,462,129 bp from pter	End:	35,486,030 bp from pter
Size:	23,902 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: ISX_HUMAN, Q2M1V0 (See protein sequence)

Recommended Name: Intestine-specific homeobox

Size: 245 amino acids; 27011 Da

Subcellular location: Nucleus (By similarity)

Secondary accessions: Q68DJ5

Explore the universe of human proteins at neXtProt for ISX: NX_Q2M1V0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q2M1V0

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

REFSEQ proteins: NP_001008494.1

ENSEMBL proteins:

ENSP00000311492 ENSP00000386037

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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	--

ISX 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

ISX for domains About GeneDecksing

3 InterPro domains/families:

IPR017970 Homeobox_CS

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q2M1V0

ProtoNet protein and cluster: Q2M1V0

UniProtKB/Swiss-Prot: ISX_HUMAN, Q2M1V0

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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ISX_HUMAN, Q2M1V0

Function: Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism

most likely by regulating BCMO1 expression in the intestine (By similarity)

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	--

ISX for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Isx):

no phenotypic analysis

normal

ISX for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Isx^tm1Shiv for ISX

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ISX

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		hsa-miR-222* hsa-miR-198 hsa-miR-516b* hsa-miR-520a-5p hsa-miR-3125 hsa-miR-3916 hsa-miR-525-5p hsa-miR-377

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In Situ Assay
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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 ISX

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--

ISX 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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ISX
Search CenterWatch for drugs/clinical trials and news about ISX

(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 ISX gene:

NM_001008494.1

Unigene Cluster for ISX:

Intestine-specific homeobox

Hs.567637 [show with all ESTs]

Unigene Representative Sequence: CR749372

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

ENST00000308700(uc003anj.3) ENST00000404699

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		SwitchGear 3'UTR luciferase reporter plasmid: ISX 3' UTR sequence

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Additional cDNA sequence:

AB219123.1 AK025181.1 BC112212.1 BC113633.1 CR749372.1

1 DOTS entry:

DT.86846622

9 AceView cDNA sequences:

BQ649633 CR749372 AW293791 AA005235 AW295293 AK025181 BF592756 AA564263

AA005236

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

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

About this image

ISX 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: 2 LifeMap Cells

Name

Category

Endoderm progenitor-like cells (Generation and expan...)

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.567637

SABiosciences Custom PCR Arrays for ISX

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISX

(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 ISX gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ISX¹	intestine-specific homeobox	59.39(n) 48.85(a)		418060 XM_416296.3 XP_416296.2
lizard (Anolis carolinensis)	Reptilia	ISX⁶	--	64(a)	1 ↔ 1	5(21254767-21257820)
zebrafish (Danio rerio)	Actinopterygii	CABZ01085697.1⁶	--	33(a)	1 ↔ 1	4(3168180-3169395)
fruit fly (Drosophila melanogaster)	Insecta	Rx⁶	Retinal Homeobox	7(a)	1 ↔ 1	2R(16804285-16824537)

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

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

Paralogs for ISX gene

ALX1² PITX1² PHOX2B² RAX² ARX² VSX1² PRRX1² DRGX²

PITX2² PHOX2A² VSX2² ALX4² RAX2² PITX3² ALX3² PRRX2²

2 SIMAP similar genes for ISX using alignment to 1 protein entry: ISX_HUMAN:

Pix-1 RAX2

ISX 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 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200428848^1,2		--	35460236(+)	`ACAAC-/AGGTGT`	1	--	us2k¹		0	--	--	--	--
rs187506802^1,2		--	35460348(+)	`GAGGTA/GCAGAG`	1	--	us2k¹		0	--	--	--	--
rs362198^1,2	C,F,A	--	35460367(-)	`CAAACC/TCAGGT`	1	--	us2k¹		6		NA WA	130
rs361984^1,2	C,F	--	35460522(-)	`GCTGGG/ACCTCG`	1	--	us2k¹		9		NA WA CSA EA	369
rs139797214^1,2		--	35460546(+)	`TCCATC/TGCCTC`	1	--	us2k¹		0	--	--	--	--
rs361890^1,2	C,F	--	35460624(-)	`TCTGAG/TGGGTA`	1	--	us2k¹		9		NA WA CSA EA	370
rs73168044^1,2	C	--	35460634(+)	`AGCTTC/TCTCTG`	1	--	us2k¹		1		NA	120
rs10427677^1,2	C,F,A,H	--	35460650(+)	`AGTGTA/CAGGAA`	1	--	us2k¹		32		NA NS EA WA CSA	3322
rs143167951^1,2		--	35460917(+)	`CAAATA/GCTGAA`	1	--	us2k¹		0	--	--	--	--
rs361738^1,2	C,F,A,H	--	35460921(-)	`AACATG/TCAGTA`	1	--	us2k¹		11		MN NA WA CSA EA	556

HapMap Linkage Disequilibrium report for ISX (35462129 - 35486030 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for ISX
9 CNVs: 5182 10625 3241 5181 67878 4125 47956 67877 9333

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ISX

DNA2.0 Custom Variant and Variant Library Synthesis for ISX

(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

ISX for disorders           About GeneDecksing

OMIM gene information: 612019    OMIM disorders: --

6 diseases for ISX:    About MalaCards

red-green color blindness color blindness red color blindness actinomycosis

intestinal obstruction blindness

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

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

Isx participates in the maintenance of vitamin A metabolism by regulation of beta-carotene 15,15'-monooxygenase (Bcmo1) expression. (PubMed id 18093975)¹ Seino Y.... Seino S. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
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)
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)
The DNA sequence of human chromosome 22. (PubMed id 10591208)² Dunham I....O'Brien K.P. (1999)

(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: 91464	HGNC: 28084	AceView: LOC91464	Ensembl:ENSG00000175329	euGenes: HUgn91464
ECgene: ISX	H-InvDB: ISX

(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 ISX	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section


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	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ISX
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ISX

	GenScript Custom Purified and Recombinant Proteins Services for ISX		GenScript cDNA clones with any tag delivered in your preferred vector for ISX
	GenScript Custom Assay Services for ISX		GenScript Custom Superior Antibodies Services for ISX
	GenScript Custom overexpressing Cell Line Services for ISX		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
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ISX Proteins, Antibodies, CLIAs, and ELISAs

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISX

	SwitchGear 3'UTR luciferase reporter plasmids for ISX
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ISX

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ISX

Sirion Biotech Customized:

	stable knockdown cell line services for ISX
	inducible knockdown cell line services for ISX
	design and validation of potent shRNA sequences against ISX
	adenovirus for potent knockdown of ISX
	adenovirus for overexpression of ISX
	stable overexpressing cell line services for ISX
	inducible overexpressing cell line services for ISX

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 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 ISX gene at Home site.

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ISX Gene

intestine-specific homeobox

Aliases
for ISX gene

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for ISX gene

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for ISX gene

Proteins
for ISX gene

Protein Domains /
Families
for ISX gene

Function
for ISX gene

Pathways & Interactions
for ISX gene

Drugs & Compounds
for ISX gene

Transcripts
for ISX gene

Expression
for ISX gene

Orthologs
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Paralogs
for ISX gene

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for ISX gene

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for ISX gene

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Genome Databases showing ISX gene

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for ISX gene

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Export list of displayed genes

ISX Gene

intestine-specific homeobox

Aliasesfor ISX gene

Summariesfor ISX gene

Genomic Viewsfor ISX gene

Proteinsfor ISX gene

Protein Domains /Familiesfor ISX gene

Functionfor ISX gene

Pathways & Interactionsfor ISX gene

Drugs & Compoundsfor ISX gene

Transcriptsfor ISX gene

Expression for ISX gene

Orthologsfor ISX gene

Paralogsfor ISX gene

Genomic Variantsfor ISX gene

Disorders / Diseasesfor ISX gene

Publicationsfor ISX gene

External Searches for ISX gene

Genome Databases showing ISX gene

Other Databases showing ISX gene

Specialized Databases showing ISX gene

Intellectual Propertyfor ISX gene

Productsfor ISX gene

View Random Gene

Aliases
for ISX gene

Summaries
for ISX gene

Genomic Views
for ISX gene

Proteins
for ISX gene

Protein Domains /
Families
for ISX gene

Function
for ISX gene

Pathways & Interactions
for ISX gene

Drugs & Compounds
for ISX gene

Transcripts
for ISX gene

Expression
for ISX gene

Orthologs
for ISX gene

Paralogs
for ISX gene

Genomic Variants
for ISX gene

Disorders / Diseases
for ISX gene

Publications
for ISX gene

Intellectual Property
for ISX gene

Products
for ISX gene