ISX (intestine specific homeobox)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 91464
• Gene name: Intestine specific homeobox
• Gene symbol: ISX
• Synonyms (NCBI Gene): Pix-1, RAXLX
• Chromosome: 22
• Chromosome location: 22q12.3
• Summary: 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 home

miRNA Show/Hide all (44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052890	hsa-miR-3928-3p	CLASH	23622248
MIRT1073015	hsa-miR-151-5p	CLIP-seq
MIRT1073016	hsa-miR-151b	CLIP-seq
MIRT1073017	hsa-miR-188-5p	CLIP-seq
MIRT1073018	hsa-miR-1915	CLIP-seq
MIRT1073019	hsa-miR-204	CLIP-seq
MIRT1073020	hsa-miR-211	CLIP-seq
MIRT1073021	hsa-miR-2355-5p	CLIP-seq
MIRT1073022	hsa-miR-2467-5p	CLIP-seq
MIRT1073023	hsa-miR-3131	CLIP-seq
MIRT1073024	hsa-miR-3140-5p	CLIP-seq
MIRT1073025	hsa-miR-3188	CLIP-seq
MIRT1073026	hsa-miR-330-3p	CLIP-seq
MIRT1073027	hsa-miR-338-3p	CLIP-seq
MIRT1073028	hsa-miR-3679-3p	CLIP-seq
MIRT1073029	hsa-miR-3975	CLIP-seq
MIRT1073030	hsa-miR-4316	CLIP-seq
MIRT1073031	hsa-miR-4330	CLIP-seq
MIRT1073032	hsa-miR-450b-5p	CLIP-seq
MIRT1073033	hsa-miR-4530	CLIP-seq
MIRT1073034	hsa-miR-4685-5p	CLIP-seq
MIRT1073035	hsa-miR-4691-3p	CLIP-seq
MIRT1073036	hsa-miR-4797-5p	CLIP-seq
MIRT1073037	hsa-miR-485-5p	CLIP-seq
MIRT1073038	hsa-miR-507	CLIP-seq
MIRT1073039	hsa-miR-549	CLIP-seq
MIRT1073040	hsa-miR-557	CLIP-seq
MIRT1073041	hsa-miR-611	CLIP-seq
MIRT1073042	hsa-miR-759	CLIP-seq
MIRT2017912	hsa-miR-1304	CLIP-seq
MIRT2017913	hsa-miR-1827	CLIP-seq
MIRT1073026	hsa-miR-330-3p	CLIP-seq
MIRT1073032	hsa-miR-450b-5p	CLIP-seq
MIRT2017914	hsa-miR-4650-5p	CLIP-seq
MIRT1073035	hsa-miR-4691-3p	CLIP-seq
MIRT2017915	hsa-miR-769-5p	CLIP-seq
MIRT2017916	hsa-miR-940	CLIP-seq
MIRT2249755	hsa-miR-3919	CLIP-seq
MIRT2249756	hsa-miR-4756-3p	CLIP-seq
MIRT1073026	hsa-miR-330-3p	CLIP-seq
MIRT1073032	hsa-miR-450b-5p	CLIP-seq
MIRT1073035	hsa-miR-4691-3p	CLIP-seq
MIRT1073038	hsa-miR-507	CLIP-seq
MIRT1073040	hsa-miR-557	CLIP-seq

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0048666	Process	Neuron development	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 612019
• HGNC: 28084
• e!Ensembl: ENSG00000175329

Protein

• UniProt ID: Q2M1V0
• Protein name: Intestine-specific homeobox (RAX-like homeobox)
• Protein 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).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	83 → 139	Homeodomain	Domain

• Sequence:

  MCAEVGPALCRGMERNSLGCCEAPKKLSLSFSIEAILKRPARRSDMDRPEGPGEEGPGEA
  AASGSGLEKPPKDQPQEGRKSKRRVRTTFTTEQLHELEKIFHFTHYPDVHIRSQLAARIN
  LPEARVQIWFQNQRAKWRKQEKIGNLGAPQQLSEASVALPTNLDVAGPTWTSTALRRLAP
  PTSCCPSAQDQLASAWFPAWITLLPAHPWETQPVPGLPIHQTCIPVLCILPPPHPKWGSI
  CATST

• Sequence length: 245

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34173348	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21239504		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37349365	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23071489	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23071489		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34081618	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23221382, 27175585, 28398627, 28625979		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23221382		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31908099, 31908141, 34173348	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26872890		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26872890		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23221382		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26531332		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26872890		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for ISX.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to ISX.