ZBED6 (zinc finger BED-type containing 6)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100381270
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger BED-type containing 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZBED6
Synonyms (NCBI Gene) Gene synonyms aliases
MGR
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5`-GCTCGC-3`. The encoded protein has been shown to repress IGF2 transcription. This gene is located within the first intron
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001835 Process Blastocyst hatching IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613512 33273 ENSG00000257315
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P86452
Protein name Zinc finger BED domain-containing protein 6
Protein function Transcriptional repressor which binds to the consensus sequence 5'-GCTCGC-3', transcription regulation may be tissue-specific (By similarity). Regulates the expression of target genes such as: IGF2, PGAP6/TMEM8, ENHO, and PIANP (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02892 zf-BED 133 → 181 BED zinc finger Domain
PF02892 zf-BED 267 → 315 BED zinc finger Domain
PF05699 Dimer_Tnp_hAT 867 → 948 hAT family C-terminal dimerisation region Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreatic islet cells (at protein level). {ECO:0000269|PubMed:24043816}.
Sequence 
MSVCTLSVPVSSLSPGRRCNTFSDSGILGCVPINSNTDEEDVVEEKMVAEGVNKEAKQPA
KKKRKKGLRIKGKRRRKKLILAKKFSKDLGSGRPVADAPALLASNDPEQDEESLFESNIE
KQIYLPSTRAKTSIVWHFFHVDPQYTWRAICNLCEKSVSRGKPGSHLGTSTLQRHLQARH
SPHWTRANKFGVASGEEDFTLDVSLSPSSGSNGSFEYIPTDPLDDNRMGKKHDKSASDAL
RAERGRFLIKSNIVKHALIPGTRAKTSAVWNFFYTDPQHISRAVCNICKRSVSRGRPGSH
LGTSTLQRHLQATHPIHWAVANKDSGAVANGLDEAETERSDLLSDTLHGEKSTGSQDLTA
EDLSDSDSDEPMLEVENRSESPIPVAEQGTLMRAQERETTCCGNPVSSHISQAIIQMIVE
DMHPYNYFSTPAFQRFMQIVAPDYRLPSETYFFTKAVPQLYDCVREKIFLTLENVQSQKI
HLTVDIWTHDPSTDYFIVTVHWVSLETASFLNNGRIPDFRKWAVLCVTGLAKDCLITNIL
QELNDQIGLWLSPNFLIPSFIVSDNSSNVVHAIKDGGFTHVPCFLHCLNMVIQDFFCEHK
SIENMLVAARKTCHHFSHSVKARQILQEFQNDHQLPWKNLKQDETGHWISTFYMLKWLLE
HCYSVHHSLGRASGVVLTSLQWTLMTYVCDILKPFEEATQKVSVKTAGLNQVLPLIHHLL
LSLQKLREDFQVRGITQALNLVDSLSLKLETDTLLSAMLKSKPCILATLLDPCFKNSLED
FFPQGADLETYKQFLAEEVCNYMESSPEICQIPTSEASCPSVTVGADSFTSSLKEGTSSS
GSVDSSAVDNVALGSKSFMFPSAVAVVDEYFKEKYSEFSGGDDPLIYWQRKISIWPALTQ
VAIQYLSCPMCSWQSECIFTKNSHFHPKQIMSLDFDNIEQLMFLKMNLKNVNYDYSTLVL
SWDPEQNEVVQSSEKEILP
Sequence length 979
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)		 25038754, 29059683
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 30285756
Carcinogenesis Associate 26056301
Colorectal Neoplasms Associate 26056301
Glioma Associate 39516455
Neoplasms Associate 26056301, 39516455