Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100128927
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger and BTB domain containing 42
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZBTB42
Synonyms (NCBI Gene) Gene synonyms aliases
LCCS6, ZNF925
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LCCS6
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613915 32550 ENSG00000179627
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lethal congenital contracture syndrome LETHAL CONGENITAL CONTRACTURE SYNDROME 6 rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923
View all (10 more)
25055871
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Congenital contracture Congenital contracture ClinVar
Lethal Congenital Contracture Syndrome lethal congenital contracture syndrome 6 GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
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