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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Pathogenic rs1579576029 RCV001450050
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 29683372
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 27964749 Associate
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 30580567
★☆☆☆☆
Found in Text Mining only
Aortic coarctation Aortic Coarctation HPO_DG
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25212213
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia LHGDN 17560543
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25212213
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23576061 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 12759240, 19362768, 20850481, 29653560 Associate
★☆☆☆☆
Found in Text Mining only