Gene Gene information from NCBI Gene database.
Entrez ID 153572
Gene name Iroquois homeobox 2
Gene symbol IRX2
Synonyms (NCBI Gene)
IRXA2
Chromosome 5
Chromosome location 5p15.33
Summary IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
miRNA miRNA information provided by mirtarbase database.
196
miRTarBase ID miRNA Experiments Reference
MIRT017070 hsa-miR-335-5p Microarray 18185580
MIRT635297 hsa-miR-330-3p HITS-CLIP 23824327
MIRT635296 hsa-miR-4504 HITS-CLIP 23824327
MIRT635295 hsa-miR-542-3p HITS-CLIP 23824327
MIRT635294 hsa-miR-6808-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 26560478
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606198 14359 ENSG00000170561
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZI1
Protein name Iroquois-class homeodomain protein IRX-2 (Homeodomain protein IRXA2) (Iroquois homeobox protein 2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05920 Homeobox_KN 132 171 Homeobox KN domain Family
Sequence
MSYPQGYLYQAPGSLALYSCPAYGASALAAPRSEELARSASGSAFSPYPGSAAFTAQAAT
GFGSPLQYSADAAAAAAGFPSYMGAPYDAHTTGMTGAISYHPYGSAAYPYQLNDPAYRKN
ATRDATATLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTW
APRNKSEDEDEDEGDATRSKDESPDKAQEGTETSAEDEGISLHVDSLTDHSCSAESDGEK
LPCRAGDPLCESGSECKDKYDDLEDDEDDDEEGERGLAPPKPVTSSPLTGLEAPLLSPPP
EAAPRGGRKTPQGSRTSPGAPPPASKPKLWSLAEIATSDLKQPSLGPGCGPPGLPAAAAP
ASTGAPPGGSPYPASPLLGRPLYYTSPFYGNYTNYGNLNAALQGQGLLRYNSAAAAPGEA
LHTAPKAASDAGKAGAHPLESHYRSPGGGYEPKKDASEGCTVVGGGVQPYL
Sequence length 471
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEAR CELL SARCOMA OF KIDNEY Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 28570300
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 26497896 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26560478
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19706770, 26560478 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma in Situ Carcinoma in situ Pubtator 30108103 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 22143938 Associate
★☆☆☆☆
Found in Text Mining only
Clear cell sarcoma of kidney Sarcoma Of Kidney BEFREE 25481751
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell sarcoma of kidney Sarcoma Of Kidney ORPHANET_DG 25481751, 26493387
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell sarcoma of kidney Sarcoma Of Kidney Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epithelioma Epithelioma BEFREE 29721379
★☆☆☆☆
Found in Text Mining only