Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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100128927 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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ZBTB42 |
SynonymsGene synonyms aliases
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LCCS6, ZNF925 |
ChromosomeChromosome number
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14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q32.33 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Domain |
PF00096 |
zf-C2H2 |
362 → 384 |
Zinc finger, C2H2 type |
Domain |
PF00096 |
zf-C2H2 |
390 → 413 |
Zinc finger, C2H2 type |
Domain |
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Sequence |
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Sequence length |
422 |
Interactions |
View interactions |
Associated diseases
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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 |
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