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ZBTB42 (zinc finger and BTB domain containing 42)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100128927
Gene nameGene Name - the full gene name approved by the HGNC.
Zinc finger and BTB domain containing 42
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ZBTB42
SynonymsGene synonyms aliases
LCCS6, ZNF925
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MEFPEHGGRLLGRLRQQRELGFLCDCTVLVGDARFPAHRAVLAACSVYFHLFYRDRPAGS
RDTVRLNGDIVTAPAFGRLLDFMYEGRLDLRSLPVEDVLAAASYLHMYDIVKVCKGRLQE
KD
RSLDPGNPAPGAEPAQPPCPWPVWTADLCPAARKAKLPPFGVKAALPPRASGPPPCQV
PEESDQALDLSLKSGPRQERVHPPCVLQTPLCSQRQPGAQPLVKDERDSLSEQEESSSSR
SPHSPPKPPPVPAAKGLVVGLQPLPLSGEGSRELELGAGRLASEDELGPGGPLCICPLCS
KLFPSSHVLQLHLSAHFRERDSTRARLSPDGVAPTCPLCGKTFSCTYTLKRHERTHSGEK
PYTCVQCGKSFQYSHNLSRHTVVHTREKPHACRWCERRFTQSGDLYRHVRKFHCGLVKSL
LV
Sequence length 422
Interactions View interactions
Associated diseases
Causal
Disease name Disease term 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, rs779432560, rs539703340, rs886041057, rs368085516, rs750803388, rs775011495, rs144659252, rs1595795343, rs1595795307, rs755420151 25055871
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
Congenital contracture Congenital contracture rs146546544, rs149395405, rs1567961103

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