Gene Gene information from NCBI Gene database.
Entrez ID 26137
Gene name Zinc finger and BTB domain containing 20
Gene symbol ZBTB20
Synonyms (NCBI Gene)
DPZFHOFODA-8SPRIMSZNF288
Chromosome 3
Chromosome location 3q13.31
Summary This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydropho
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs150263896 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs483353063 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs483353068 C>G,T Not-provided, pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs483353069 T>G Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs483353070 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
324
miRTarBase ID miRNA Experiments Reference
MIRT018364 hsa-miR-335-5p Microarray 18185580
MIRT029806 hsa-miR-26b-5p Microarray 19088304
MIRT030905 hsa-miR-21-5p Microarray 18591254
MIRT047281 hsa-miR-181b-5p CLASH 23622248
MIRT519999 hsa-miR-8485 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 IEA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606025 13503 ENSG00000181722
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HC78
Protein name Zinc finger and BTB domain-containing protein 20 (Dendritic-derived BTB/POZ zinc finger protein) (Zinc finger protein 288)
Protein function May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity). {E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 94 197 BTB/POZ domain Domain
PF00096 zf-C2H2 578 600 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 606 628 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 634 656 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 662 684 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 715 737 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in spleen, lymph node, thymus, peripheral blood leukocytes, and fetal liver. {ECO:0000269|PubMed:11352661}.
Sequence
MLERKKPKTAENQKASEENEITQPGGSSAKPGLPCLNFEAVLSPDPALIHSTHSLTNSHA
HTGSSDCDISCKGMTERIHSINLHNFSNSVLETLNEQRNRGHFCDVTVRIHGSMLRAHRC
VLAAGSPFFQDKLLLGYSDIEIPSVVSVQSVQKLIDFMYSGVLRVSQSEALQILTAASIL
QIKTVIDECTRIVSQNV
GDVFPGIQDSGQDTPRGTPESGTSGQSSDTESGYLQSHPQHSV
DRIYSALYACSMQNGSGERSFYSGAVVSHHETALGLPRDHHMEDPSWITRIHERSQQMER
YLSTTPETTHCRKQPRPVRIQTLVGNIHIKQEMEDDYDYYGQQRVQILERNESEECTEDT
DQAEGTESEPKGESFDSGVSSSIGTEPDSVEQQFGPGAARDSQAEPTQPEQAAEAPAEGG
PQTNQLETGASSPERSNEVEMDSTVITVSNSSDKSVLQQPSVNTSIGQPLPSTQLYLRQT
ETLTSNLRMPLTLTSNTQVIGTAGNTYLPALFTTQPAGSGPKPFLFSLPQPLAGQQTQFV
TVSQPGLSTFTAQLPAPQPLASSAGHSTASGQGEKKPYECTLCNKTFTAKQNYVKHMFVH
TGEKPHQCSICWRSFSLKDYLIKHMVTHTGVRAYQCSICNKRFTQKSSLNVHMRLHRGEK
SYECYICKKKFSHKTLLERHVALHSASNGTPPAGTPPGARAGPPGVVACTEGTTYVCSVC
PAKFDQIEQFNDHMRMH
VSDG
Sequence length 741
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
132
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Likely pathogenic rs1560092224 RCV000710049
Autistic behavior Likely pathogenic rs1560092224 RCV000710049
Clinodactyly of the 4th toe Likely pathogenic rs1560092224 RCV000710049
Clinodactyly of the 5th finger Likely pathogenic rs1560092224 RCV000710049
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs150263896 -
Autism spectrum disorder Uncertain significance rs1422109559 RCV003128051
Colorectal cancer Benign; Likely benign rs138924453 RCV005906388
Familial cancer of breast Benign; Likely benign rs149352178 RCV005907428
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32936247
Anxiety Associate 38102312
Astrocytoma Associate 31170943
Autism Spectrum Disorder Associate 23032108
Breast Neoplasms Associate 33275231, 35589867
Carcinogenesis Associate 31556767
Carcinoma Hepatocellular Associate 21702992, 32319639
Carcinoma Non Small Cell Lung Associate 25311537
Cognition Disorders Associate 34285142
Developmental Disabilities Associate 22180640