ZBED6 (zinc finger BED-type containing 6)

Gene

• Entrez ID: 100381270
• Gene name: Zinc finger BED-type containing 6
• Gene symbol: ZBED6
• Synonyms (NCBI Gene): MGR
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: 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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24043816
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	ISS
GO:0005737	Component	Cytoplasm	IDA	24043816
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0051148	Process	Negative regulation of muscle cell differentiation	IEA
GO:0051148	Process	Negative regulation of muscle cell differentiation	ISS
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IEA

Other IDs

• MIM: 613512
• HGNC: 33273
• e!Ensembl: ENSG00000257315

Protein

• 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

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	25038754, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30285756	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26056301	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26056301		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26056301	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39516455	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29544512		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26056301		★☆☆☆☆ Found in Text Mining only