Gene Gene information from NCBI Gene database.
Entrez ID 139105
Gene name BEN domain containing 2
Gene symbol BEND2
Synonyms (NCBI Gene)
CXorf20
Chromosome X
Chromosome location Xp22.13
Summary This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in mul
miRNA miRNA information provided by mirtarbase database.
142
miRTarBase ID miRNA Experiments Reference
MIRT820688 hsa-miR-1225-3p CLIP-seq
MIRT820689 hsa-miR-1233 CLIP-seq
MIRT820690 hsa-miR-1254 CLIP-seq
MIRT820691 hsa-miR-3064-3p CLIP-seq
MIRT820692 hsa-miR-3116 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 31429579
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301150 28509 ENSG00000177324
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NDZ0
Protein name BEN domain-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10523 BEN 504 577 BEN domain Domain
PF10523 BEN 689 762 BEN domain Domain
Sequence
MSERTQEQDFVIITVDDSDDNNDCSIEMVEVSETADNSTNDIADDSTYVTADNPTDDTAT
QPNFPGGNDGHHRPLQMSYGSGSVTQAGVQWHDHSSLQPQPLGLKQFFHLSLPSSWDDRR
TPPCPVAHGDQIVSQINHPVHLRRYSYNSEEVDFPKRGRFYTPEVQSSISPPAERQETHA
WASPAVTSLESAACHELQEADLSESLSYPRIVSSSSLQQYVAQGGSFPCFGMPWNFISGG
AESTNAVISFANATTAVPMAVLSRRESSLANNPGVVNYSALPENENVGPGRALSSFCFHP
NLEMPERPANSSKNSTETANYPTLMGNYNGQNTASLSVFIPPYFAEKIILTEMPGTTETN
VENNSQTVYYPALSGNTSAPYPASSYLPITSNFESGPQMSYGTMSYSTEMKNNCDQDDAS
ASACLTPDFALLPLNILVKVDTNTENSVNTMNRSTLLDSDSGQDSSSSSVCIPPKYGYLG
DPKRNVRVLKIHLLAVQNMAKPKQAACYLVRILFSKEILISSSVDIHLKDSQSLDPNKMA
ALREYLATTFPTCDLHEHGKDWQDCISGINSMIYCLC
SEGKSTPKTVRKNKKRTNRVASA
SADRNDQRGRDGGEGCSWMFQPMNNSKMREKRNLQPNSNAIPEGMREPSTDNPEEPGEAW
SYFGRPWRNIRMPCSVLTLAKTKSCASLSARYLIQKLFTKDVLVQSNVYGNLKHGLCALD
PNKISALREFLQENYPICDLSENGRDWKSCVTSINSGIRSLR
HDVRRAEARSQSLPAVTP
PELEQESKPGDPDATDPST
Sequence length 799
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
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
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 36017582 Associate
★☆☆☆☆
Found in Text Mining only
Cushing Syndrome Cushing syndrome Pubtator 36690805 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35757013 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 39529180 Associate
★☆☆☆☆
Found in Text Mining only
Gliosarcoma Gliosarcoma Pubtator 35757013 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile psoriatic arthritis Juvenile arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile-Onset Still Disease Still Disease CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29348602
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 32124419, 36690805 Associate
★☆☆☆☆
Found in Text Mining only