Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	91464
Gene name	Intestine specific homeobox
Gene symbol	ISX
Synonyms (NCBI Gene)	Pix-1RAXLX
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

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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

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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

MIM	HGNC	e!Ensembl
612019	28084	ENSG00000175329

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

Interactions

View interactions

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	BEFREE	23071489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23071489	Associate	★★★★★ ★☆☆☆☆ 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

ISX (intestine specific homeobox)