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] See more...

Aliases for ISX Gene

Aliases for ISX Gene

  • Intestine Specific Homeobox 2 3 5
  • Intestine-Specific Homeobox 2 3 4
  • RAX-Like Homeobox 3 4
  • RAXLX 3 4
  • Pancreas-Intestine Homeodomain Transcription Factor 3
  • Pix-1 3

External Ids for ISX Gene

Previous GeneCards Identifiers for ISX Gene

  • GC22P033792
  • GC22P035462
  • GC22P018424

Summaries for ISX Gene

Entrez Gene Summary for ISX Gene

  • 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]

GeneCards Summary for ISX Gene

ISX (Intestine Specific Homeobox) is a Protein Coding gene. Diseases associated with ISX include Hypervitaminosis A and Macular Degeneration, Age-Related, 10. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is RAX.

UniProtKB/Swiss-Prot Summary for ISX Gene

  • Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 expression in the intestine (By similarity).

Additional gene information for ISX Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISX Gene

Genomics for ISX Gene

GeneHancer (GH) Regulatory Elements for ISX Gene

Promoters and enhancers for ISX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J035064 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 500.7 +0.7 685 4.7 POLR2G USF1 KDM6A REST USF2 TOE1 ZBTB7A TEAD1 RELA ZBTB26 ISX piR-38352-358 piR-38580-197
GH22J035133 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 2 +68.6 68564 3 NRF1 ZIC2 ZNF341 NCOR1 MEF2B TAL1 EBF1 ADNP TCF12 PRDM10 LINC01399 ISX lnc-ISX-6 lnc-HMGXB4-8
GH22J035102 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.3 +37.5 37466 2.1 TEAD4 REST CTCF OSR2 EBF1 PRDM6 FEZF1 SPI1 NFIC CREM piR-38580-197 ISX
GH22J035071 Enhancer 0.3 ENCODE 0.4 +5.9 5864 0.6 ZNF680 ISX piR-38580-197
GH22J035069 Enhancer 0.2 Ensembl 0.7 +3.7 3665 0.8 ISX piR-38580-197
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ISX on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISX

Genomic Locations for ISX Gene

Genomic Locations for ISX Gene
chr22:35,066,136-35,087,387
(GRCh38/hg38)
Size:
21,252 bases
Orientation:
Plus strand
chr22:35,462,129-35,483,380
(GRCh37/hg19)
Size:
21,252 bases
Orientation:
Plus strand

Genomic View for ISX Gene

Genes around ISX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISX Gene

Proteins for ISX Gene

  • Protein details for ISX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M1V0-ISX_HUMAN
    Recommended name:
    Intestine-specific homeobox
    Protein Accession:
    Q2M1V0
    Secondary Accessions:
    • Q68DJ5

    Protein attributes for ISX Gene

    Size:
    245 amino acids
    Molecular mass:
    27011 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ISX Gene

Post-translational modifications for ISX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ISX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISX Gene

Domains & Families for ISX Gene

Gene Families for ISX Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ISX Gene

Suggested Antigen Peptide Sequences for ISX Gene

GenScript: Design optimal peptide antigens:
  • Pancreas-intestine homeodomain transcription factor (B1B1S6_HUMAN)
  • RAX-like homeobox (ISX_HUMAN)
genes like me logo Genes that share domains with ISX: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ISX Gene

Function for ISX Gene

Molecular function for ISX Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 expression in the intestine (By similarity).

Phenotypes From GWAS Catalog for ISX Gene

Gene Ontology (GO) - Molecular Function for ISX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with ISX: view
genes like me logo Genes that share phenotypes with ISX: view

Animal Models for ISX Gene

MGI Knock Outs for ISX:
  • Isx Isx<tm1Sse>
  • Isx Isx<tm1Shiv>

Animal Model Products

CRISPR Products

miRNA for ISX Gene

miRTarBase miRNAs that target ISX

Clone Products

  • Addgene plasmids for ISX

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ISX Gene

Localization for ISX Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISX Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ISX gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ISX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ISX: view

Pathways & Interactions for ISX Gene

PathCards logo

SuperPathways for ISX Gene

No Data Available

Gene Ontology (GO) - Biological Process for ISX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with ISX: view

No data available for Pathways by source and SIGNOR curated interactions for ISX Gene

Drugs & Compounds for ISX Gene

No Compound Related Data Available

Transcripts for ISX Gene

mRNA/cDNA for ISX Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ISX

Alternative Splicing Database (ASD) splice patterns (SP) for ISX Gene

No ASD Table

Relevant External Links for ISX Gene

GeneLoc Exon Structure for
ISX

Expression for ISX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ISX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ISX Gene

This gene is overexpressed in Colon - Transverse (x33.8) and Small Intestine - Terminal Ileum (x16.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ISX

SOURCE GeneReport for Unigene cluster for ISX Gene:

Hs.567637

Evidence on tissue expression from TISSUES for ISX Gene

  • Intestine(2.5)
genes like me logo Genes that share expression patterns with ISX: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISX Gene

Orthologs for ISX Gene

This gene was present in the common ancestor of animals.

Orthologs for ISX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISX 31 30
  • 99.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ISX 31 30
  • 79.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ISX 31 30
  • 78.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isx 30
  • 72.54 (n)
mouse
(Mus musculus)
Mammalia Isx 17 31 30
  • 72.52 (n)
oppossum
(Monodelphis domestica)
Mammalia ISX 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISX 31 30
  • 59.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISX 31
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rx1 31
  • 22 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11294 31
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Species where no ortholog for ISX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ISX Gene

ENSEMBL:
Gene Tree for ISX (if available)
TreeFam:
Gene Tree for ISX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ISX: view image

Paralogs for ISX Gene

(2) SIMAP similar genes for ISX Gene using alignment to 1 proteins:

  • ISX_HUMAN
genes like me logo Genes that share paralogs with ISX: view

Variants for ISX Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISX Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
717339 Benign: not provided 35,082,651(+) C/T SYNONYMOUS_VARIANT
784419 Benign: not provided 35,067,222(+) T/C SYNONYMOUS_VARIANT
784560 Benign: not provided 35,085,668(+) G/T MISSENSE_VARIANT
rs361863 - p.Ser28Gly
rs362090 - p.Pro57Ser

Additional dbSNP identifiers (rs#s) for ISX Gene

Structural Variations from Database of Genomic Variants (DGV) for ISX Gene

Variant ID Type Subtype PubMed ID
esv2661366 CNV deletion 23128226
esv26909 CNV gain 19812545
esv2758835 CNV loss 17122850
esv28292 CNV loss 19812545
esv34121 CNV loss 18971310
esv35003 CNV loss 17911159
esv3584500 CNV gain 24956385
esv3647659 CNV loss 21293372
nsv1118076 CNV deletion 24896259
nsv817989 CNV loss 17921354
nsv820628 CNV duplication 20802225
nsv834182 CNV gain 17160897
nsv834183 CNV gain 17160897

Variation tolerance for ISX Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.43; 77.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISX Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISX

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISX Gene

Disorders for ISX Gene

MalaCards: The human disease database

(2) MalaCards diseases for ISX Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypervitaminosis a
  • hypervitaminosis a, susceptibility to
macular degeneration, age-related, 10
  • armd10
- elite association - COSMIC cancer census association via MalaCards
Search ISX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ISX

genes like me logo Genes that share disorders with ISX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ISX Gene

Publications for ISX Gene

  1. Aryl hydrocarbon receptor promotes hepatocellular carcinoma tumorigenesis by targeting intestine-specific homeobox expression. (PMID: 28398627) Hsu SH … Wang SN (Molecular carcinogenesis 2017) 3 54
  2. Intestine-Specific Homeobox Gene ISX Integrates IL6 Signaling, Tryptophan Catabolism, and Immune Suppression. (PMID: 28625979) Wang LT … Hsu SH (Cancer research 2017) 3 54
  3. Intestine-specific homeobox (ISX) upregulates E2F1 expression and related oncogenic activities in HCC. (PMID: 27175585) Wang SN … Hsu SH (Oncotarget 2016) 3 54
  4. Intestine-specific homeobox (ISX) induces intestinal metaplasia and cell proliferation to contribute to gastric carcinogenesis. (PMID: 26872890) Sue S … Maeda S (Journal of gastroenterology 2016) 3 54
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan JA … Goldberg AL (The EMBO journal 2013) 3 54

Products for ISX Gene

Sources for ISX Gene