Gene Gene information from NCBI Gene database.
Entrez ID 7707
Gene name Zinc finger protein 148
Gene symbol ZNF148
Synonyms (NCBI Gene)
BERF-1BFCOL1GDACCFHT-BETAZBP-89ZFP148pHZ-52
Chromosome 3
Chromosome location 3q21.2
Summary 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.
9
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.
824
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ID1 Repression 21606196
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12771217
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601897 12933 ENSG00000163848
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
35
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies Likely pathogenic; Pathogenic rs2107831036, rs2107833567, rs2107831883, rs2107832092, rs1057519265, rs1057519266, rs1057519267, rs1057519268, rs1553802038, rs1579576360, rs1579576029, rs1579578234 RCV001754574
RCV002249205
RCV002271976
RCV002277748
RCV000415609
RCV000415539
RCV000415583
RCV000415613
RCV000660472
RCV000824985
RCV000995681
RCV000995682
Intellectual disability Pathogenic rs1579576029 RCV001450050
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs2472622427 RCV003127440
Ovarian serous cystadenocarcinoma Likely benign rs141167020 RCV005902971
Thyroid cancer, nonmedullary, 1 Likely benign rs141167020 RCV005902972
ZNF148-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs1935964718, rs147223574, rs1935909212, rs2472624112, rs1418138736, rs143688584, rs369366946, rs10665336, rs199684123 RCV003396916
RCV003973792
RCV003416731
RCV003421062
RCV003418786
RCV003952150
RCV003964001
RCV003981295
RCV003932983
Associations from Text MiningDisease associations identified through Pubtator
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