Gene Gene information from NCBI Gene database.
Entrez ID 8538
Gene name BARX homeobox 2
Gene symbol BARX2
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q24.3
Summary This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogene
miRNA miRNA information provided by mirtarbase database.
135
miRTarBase ID miRNA Experiments Reference
MIRT017365 hsa-miR-335-5p Microarray 18185580
MIRT039194 hsa-miR-769-5p CLASH 23622248
MIRT815925 hsa-miR-1225-5p CLIP-seq
MIRT815926 hsa-miR-124 CLIP-seq
MIRT815927 hsa-miR-1273d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP 14744868
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604823 956 ENSG00000043039
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UMQ3
Protein name Homeobox protein BarH-like 2
Protein function Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous syste
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 134 190 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adult salivary gland and at much lower levels in mammary gland, kidney and placenta.
Sequence
MHCHAELRLSSPGQLKAARRRYKTFMIDEILSKETCDYFEKLSLYSVCPSLVVRPKPLHS
CTGSPSLRAYPLLSVITRQPTVISHLVPATPGIAQALSCHQVTEAVSAEAPGGEALASSE
SETEQPTPRQKKPRRSRTIFTELQLMGLEKKFQKQKYLSTPDRLDLAQSLGLTQLQVKTW
YQNRRMKWKK
MVLKGGQEAPTKPKGRPKKNSIPTSEEIEAEEKMNSQAQGQEQLEPSQGQ
EELCEAQEPKARDVPLEMAEPPDPPQELPIPSSEPPPLS
Sequence length 279
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME 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
Adenocarcinoma Adenocarcinoma BEFREE 12370737
★☆☆☆☆
Found in Text Mining only
Axenfeld-Rieger syndrome Axenfeld anomaly BEFREE 10644443
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16636675
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 11585719, 12370737
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27453340
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 11585719, 12370737
★☆☆☆☆
Found in Text Mining only
Jacobsen Distal 11q Deletion Syndrome Jacobsen Syndrome BEFREE 10854790
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASCAT_DG 26980576
★☆☆☆☆
Found in Text Mining only
Lupus Nephritis Lupus Nephritis GWASCAT_DG 26980576
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 36793937 Associate
★☆☆☆☆
Found in Text Mining only