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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal facial shape Likely pathogenic rs1560092224 RCV000710049
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior Likely pathogenic rs1560092224 RCV000710049
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clinodactyly of the 4th toe Likely pathogenic rs1560092224 RCV000710049
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clinodactyly of the 5th finger Likely pathogenic rs1560092224 RCV000710049
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
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
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 29942513
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
ANONYCHIA Anonychia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 38102312 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 31170943 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 23032108 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 23032108
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder Autism BEFREE 25062845, 30281617
★☆☆☆☆
Found in Text Mining only
Bilateral Cryptorchidism Cryptorchidism HPO_DG
★☆☆☆☆
Found in Text Mining only