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Gene Gene information from NCBI Gene database.
Entrez ID 57473
Gene name Zinc finger protein 512B
Gene symbol ZNF512B
Synonyms (NCBI Gene)
GM632
Chromosome 20
Chromosome location 20q13.33
miRNA miRNA information provided by mirtarbase database.
813 Show/Hide all (813)
miRTarBase ID miRNA Experiments Reference
MIRT016337 hsa-miR-193b-3p Microarray 20304954
MIRT045134 hsa-miR-186-5p CLASH 23622248
MIRT043456 hsa-miR-331-3p CLASH 23622248
MIRT016337 hsa-miR-193b-3p CLASH 23622248
MIRT616567 hsa-miR-5196-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10 Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 20639536
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 20639536
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 31515488, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617886 29212 ENSG00000196700
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96KM6
Protein name Zinc finger protein 512B
Protein function Involved in transcriptional regulation by repressing gene expression (PubMed:39460621). Associates with the nucleosome remodeling and histone deacetylase (NuRD) complex, which promotes transcriptional repression by histone deacetylation and nucl
PDB 2GQJ , 8TX8
Family and domains
Sequence
MTDPFCVGGRRLPGSSKSGPGKDGSRKEVRLPMLHDPPKMGMPVVRGGQTVPGQAPLCFD
PGSPASDKTEGKKKGRPKAENQALRDIPLSLMNDWKDEFKAHSRVKCPNSGCWLEFPSIY
GLKYHYQRCQGGAISDRLAFPCPFCEAAFTSKTQLEKHRIWNHMDRPLPASKPGPISRPV
TISRPVGVSKPIGVSKPVTIGKPVGVSKPIGISKPVSVGRPMPVTKAIPVTRPVPVTKPV
TVSRPMPVTKAMPVTKPITVTKSVPVTKPVPVTKPITVTKLVTVTKPVPVTKPVTVSRPI
VVSKPVTVSRPIAISRHTPPCKMVLLTRSENKAPRATGRNSGKKRAADSLDTCPIPPKQA
RPENGEYGPSSMGQSSAFQLSADTSSGSLSPGSRPSGGMEALKAAGPASPPEEDPERTKH
RRKQKTPKKFTGEQPSISGTFGLKGLVKAEDKARVHRSKKQEGPGPEDARKKVPAAPITV
SKEAPAPVAHPAPGGPEEQWQRAIHERGEAVCPTCNVVTRKTLVGLKKHMEVCQKLQDAL
KCQHCRKQFKSKAGLNYHTMAEHSAKPSDAEASEGGEQEERERLRKVLKQMGRLRCPQEG
CGAAFSSLMGYQYHQRRCGKPPCEVDSPSFPCTHCGKTYRSKAGHDYHVRSEHTAPPPEE
PTDKSPEAEDPLGVERTPSGRVRRTSAQVAVFHLQEIAEDELARDWTKRRMKDDLVPETA
RLNYTRPGLPTLNPQLLEAWKNEVKEKGHVNCPNDCCEAIYSSVSGLKAHLASCSKGAHL
AGKYRCLLCPKEFSSESGVKYHILKTHAENWFRTSADPPPKHRSQDSLVPKKEKKKNLAG
GKKRGRKPKERTPEEPVAKLPPRRDDWPPGCRDKGARGSTGRKVGVSKAPEK
Sequence length 892
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Reference Evidence Score
Malignant lymphoma, large B-cell, diffuse Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ZNF512B-related disorder Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 21665992, 23168171, 26313240, 26668144, 29713939, 30567526
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 30567526 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 26668144
★★★★★
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 26313240
★★★★★
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 27612022 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 25491628 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only