Gene Gene information from NCBI Gene database.
Entrez ID 343472
Gene name BarH like homeobox 2
Gene symbol BARHL2
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p22.2
miRNA miRNA information provided by mirtarbase database.
192
miRTarBase ID miRNA Experiments Reference
MIRT610514 hsa-miR-483-3p HITS-CLIP 23824327
MIRT610513 hsa-miR-141-5p HITS-CLIP 23824327
MIRT610512 hsa-miR-3183 HITS-CLIP 23824327
MIRT610511 hsa-miR-4723-3p HITS-CLIP 23824327
MIRT610510 hsa-miR-6769b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605212 954 ENSG00000143032
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NY43
Protein name BarH-like 2 homeobox protein
Protein function Potential regulator of neural basic helix-loop-helix genes.
PDB 8PM5 , 8PM7 , 8PMC , 8PMF , 8PMN , 8PMV , 8PN4 , 8PNA , 8PNC , 8R7Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 233 289 Homeodomain Domain
Sequence
MTMEGASGSSFGIDTILSSASSGSPGMMNGDFRPLGEARTADFRSQATPSPCSEIDTVGT
APSSPISVTMEPPEPHLVADATQHHHHLHHSQQPPPPAAAPTQSLQPLPQQQQPLPPQQP
PPPPPQQLGSAASAPRTSTSSFLIKDILGDSKPLAACAPYSTSVSSPHHTPKQESNAVHE
SFRPKLEQEDSKTKLDKREDSQSDIKCHGTKEEGDREITSSRESPPVRAKKPRKARTAFS
DHQLNQLERSFERQKYLSVQDRMDLAAALNLTDTQVKTWYQNRRTKWKR
QTAVGLELLAE
AGNYSALQRMFPSPYFYHPSLLGSMDSTTAAAAAAAMYSSMYRTPPAPHPQLQRPLVPRV
LIHGLGPGGQPALNPLSSPIPGTPHPR
Sequence length 387
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
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
Carcinogenesis Carcinogenesis Pubtator 37161008 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 29341468 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37161008 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 22143938 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27453340 Inhibit
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 19852759 Associate
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 29341468
★☆☆☆☆
Found in Text Mining only
Oculocerebrorenal Syndrome Oculocerebrorenal syndrome Pubtator 37082886 Associate
★☆☆☆☆
Found in Text Mining only