Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7707
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 148
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF148
Synonyms (NCBI Gene) Gene synonyms aliases
BERF-1, BFCOL1, GDACCF, HT-BETA, ZBP-89, ZFP148, pHZ-52
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GDACCF
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057519265 T>A Pathogenic Genic downstream transcript variant, stop gained, coding sequence variant
rs1057519266 ->T Pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057519267 ->A Pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057519268 ->G Pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553802038 CT>- Likely-pathogenic Frameshift variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006269 hsa-miR-203a-3p Luciferase reporter assay 22354972
MIRT006269 hsa-miR-203a-3p Luciferase reporter assay 22354972
MIRT006269 hsa-miR-203a-3p Luciferase reporter assay 22354972
MIRT018719 hsa-miR-335-5p Microarray 18185580
MIRT021205 hsa-miR-186-5p Sequencing 20371350
Transcription factors
Transcription factor Regulation Reference
ID1 Repression 21606196
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 EXP 9685330
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12771217
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12771217
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 12771217
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601897 12933 ENSG00000163848
Protein
UniProt ID Q9UQR1
Protein name Zinc finger protein 148 (Transcription factor ZBP-89) (Zinc finger DNA-binding protein 89)
Protein function Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 171 193 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 199 221 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 227 249 Zinc finger, C2H2 type Domain
Sequence
MNIDDKLEGLFLKCGGIDEMQSSRTMVVMGGVSGQSTVSGELQDSVLQDRSMPHQEILAA
DEVLQESEMRQQDMISHDELMVHEETVKNDEEQMETHERLPQGLQYALNVPISVKQEITF
TDVSEQLMRDKKQIREPVDLQKKKKRKQRSPAKILTINEDGSLGLKTPKSHVCEHCNAAF
RTNYHLQRHVFIH
TGEKPFQCSQCDMRFIQKYLLQRHEKIHTGEKPFRCDECGMRFIQKY
HMERHKRTH
SGEKPYQCEYCLQYFSRTDRVLKHKRMCHENHDKKLNRCAIKGGLLTSEED
SGFSTSPKDNSLPKKKRQKTEKKSSGMDKESALDKSDLKKDKNDYLPLYSSSTKVKDEYM
VAEYAVEMPHSSVGGSHLEDASGEIHPPKLVLKKINSKRSLKQPLEQNQTISPLSTYEES
KVSKYAFELVDKQALLDSEGNADIDQVDNLQEGPSKPVHSSTNYDDAMQFLKKKRYLQAA
SNNSREYALNVGTIASQPSVTQAAVASVIDESTTASILESQALNVEIKSNHDKNVIPDEV
LQTLLDHYSHKANGQHEISFSVADTEVTSSISINSSEVPEVTPSENVGSSSQASSSDKAN
MLQEYSKFLQQALDRTSQNDAYLNSPSLNFVTDNQTLPNQPAFSSIDKQVYATMPINSFR
SGMNSPLRTTPDKSHFGLIVGDSQHSFPFSGDETNHASATSTQDFLDQVTSQKKAEAQPV
HQAYQMSSFEQPFRAPYHGSRAGIATQFSTANGQVNLRGPGTSAEFSEFPLVNVNDNRAG
MTSSPDATTGQTFG
Sequence length 794
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES rs1057519265, rs1057519266, rs1057519267, rs1057519268, rs1553802038, rs1579576360, rs1579576029, rs1579578234 27964749
Hypoplastic left heart syndrome Hypoplastic Left Heart Syndrome rs1554284604, rs1843006535
Unknown
Disease term Disease name Evidence References Source
Renal dysplasia Renal Cell Dysplasia, Renal dysplasia ClinVar
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenomatoid Tumor Associate 28580939
Adenomatous Polyposis Coli Stimulate 23576061
Agenesis of Corpus Callosum Associate 27964749
Body Dysmorphic Disorders Associate 27964749
Carcinogenesis Associate 23576061
Carcinoma Hepatocellular Associate 12759240, 19362768, 20850481, 29653560
Colorectal Neoplasms Associate 17390049, 23576061, 28072746
Congenital Abnormalities Associate 27964749
Crohn Disease Associate 21257989
Developmental Disabilities Associate 27964749