Gene Gene information from NCBI Gene database.
Entrez ID 57673
Gene name BEN domain containing 3
Gene symbol BEND3
Synonyms (NCBI Gene)
KIAA1553
Chromosome 6
Chromosome location 6q21
miRNA miRNA information provided by mirtarbase database.
402
miRTarBase ID miRNA Experiments Reference
MIRT022378 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT045003 hsa-miR-186-5p CLASH 23622248
MIRT042217 hsa-miR-484 CLASH 23622248
MIRT710081 hsa-miR-942-3p HITS-CLIP 19536157
MIRT710080 hsa-miR-449b-3p HITS-CLIP 19536157
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 IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 21914818
GO:0000182 Function RDNA binding IBA
GO:0000182 Function RDNA binding IDA 26100909
GO:0000183 Process RDNA heterochromatin formation IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616374 23040 ENSG00000178409
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T5X7
Protein name BEN domain-containing protein 3
Protein function Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by contro
PDB 5JNO , 7W27
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10523 BEN 265 340 BEN domain Domain
PF10523 BEN 409 482 BEN domain Domain
PF10523 BEN 572 647 BEN domain Domain
PF10523 BEN 738 813 BEN domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at least in heart, kidney, liver, ovary and spleen, with highest levels in spleen and lowest in heart. Expressed on the surface of T-cells. {ECO:0000269|PubMed:21914818, ECO:0000269|PubMed:25400923}.
Sequence
MNSTEFTEDVEEVLKSITVKVETEAEDAALDCSVNSRTSEKHSVDSVLTALQDSSKRKQL
VSDGLLDSVPGVKRRRLIPEALLAGMRNRENSSPCQGNGEQAGRGRSLGNVWPGEEEPCN
DATTPSYKKPLYGISHKIMEKKNPPSGDLLNVYELFEKANASNSPSSLRLLNEPQKRDCG
STGAGTDNDPNIYFLIQKMFYMLNTLTSNMSQLHSKVDLLSLEVSRIKKQVSPTEMVAKF
QPPPEYQLTAAELKQIVDQSLSGGDLACRLLVQLFPELFSDVDFSRGCSACGFAAKRKLE
SLHLQLIRNYVEVYYPSVKDTAVWQAECLPQLNDFFSRFW
AQREMEDSQPSGQVASFFEA
EQVDPGHFLDNKDQEEALSLDRSSTIASDHVVDTQDLTEFLDEASSPGEFAVFLLHRLFP
ELFDHRKLGEQYSCYGDGGKQELDPQRLQIIRNYTEIYFPDMQEEEAWLQQCAQRINDEL
EG
LGLDAGSEGDPPRDDCYDSSSLPDDISVVKVEDSFEGERPGRRSKKIWLVPIDFDKLE
IPQPDFEVPGADCLLSKEQLRSIYESSLSIGNFASRLLVHLFPELFTHENLRKQYNCSGS
LGKKQLDPSRIKLIRHYVQLLYPRAKNDRVWTLEFVGKLDERCRRRD
TEQRRSYQQQRKV
HVPGPECRDLTSYAINPERFREEFEGPPLPPERSSKDFCKIPLDELVVPSPDFPVPSPYL
LSDKEVREIVQQSLSVGNFAARLLVRLFPELFTAENLRLQYNHSGACNKKQLDPTRLRLI
RHYVEAVYPVEKMEEVWHYECIPSIDERCRRPN
RKKCDILKKAKKVEK
Sequence length 828
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION 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
Colorectal Neoplasms Colorectal neoplasm Pubtator 36185995 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 30399318
★☆☆☆☆
Found in Text Mining only