Gene Gene information from NCBI Gene database.
Entrez ID 100128927
Gene name Zinc finger and BTB domain containing 42
Gene symbol ZBTB42
Synonyms (NCBI Gene)
LCCS6ZNF925
Chromosome 14
Chromosome location 14q32.33
Summary The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the prote
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs730882163 G>A Pathogenic Coding sequence variant, missense variant
rs1368607213 C>G,T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
663
miRTarBase ID miRNA Experiments Reference
MIRT608387 hsa-miR-8485 HITS-CLIP 23313552
MIRT608386 hsa-miR-329-3p HITS-CLIP 23313552
MIRT608385 hsa-miR-362-3p HITS-CLIP 23313552
MIRT608384 hsa-miR-603 HITS-CLIP 23313552
MIRT608383 hsa-miR-3941 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613915 32550 ENSG00000179627
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B2RXF5
Protein name Zinc finger and BTB domain-containing protein 42
Protein function Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 14 122 BTB/POZ domain Domain
PF13894 zf-C2H2_4 334 357 Domain
PF00096 zf-C2H2 362 384 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 390 413 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle (at protein level). {ECO:0000269|PubMed:21193930}.
Sequence
MEFPEHGGRLLGRLRQQRELGFLCDCTVLVGDARFPAHRAVLAACSVYFHLFYRDRPAGS
RDTVRLNGDIVTAPAFGRLLDFMYEGRLDLRSLPVEDVLAAASYLHMYDIVKVCKGRLQE
KD
RSLDPGNPAPGAEPAQPPCPWPVWTADLCPAARKAKLPPFGVKAALPPRASGPPPCQV
PEESDQALDLSLKSGPRQERVHPPCVLQTPLCSQRQPGAQPLVKDERDSLSEQEESSSSR
SPHSPPKPPPVPAAKGLVVGLQPLPLSGEGSRELELGAGRLASEDELGPGGPLCICPLCS
KLFPSSHVLQLHLSAHFRERDSTRARLSPDGVAPTCPLCGKTFSCTYTLKRHERTHSGEK
PYTCVQCGKSFQYSHNLSRHTVVHTREKPHACRWCERRFTQSGDLYRHVRKFHCGLVKSL
LV
Sequence length 422
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lethal congenital contracture syndrome 6 Uncertain significance; Benign rs577534064, rs12878684, rs730882163, rs4983387 RCV001333823
RCV002243363
RCV000162044
RCV000989268
ZBTB42-related disorder Benign; Likely benign rs34284721, rs145420561, rs1338552080 RCV003975910
RCV003934516
RCV003946961
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 26462029
Degloving Injuries Associate 26988277
Drug Related Side Effects and Adverse Reactions Associate 26988277
Hallucinations Associate 31810747
Heart Defects Congenital Associate 32590727
Hypomagnesemia primary Associate 27876891
Metabolic Syndrome Associate 20872231
Nasopharyngeal Carcinoma Associate 24632578, 27876891
Neoplasm Metastasis Associate 27876891
Niemann Pick Disease Type C Associate 27876891