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ZNF148 (zinc finger protein 148)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7707
Gene nameGene Name - the full gene name approved by the HGNC.
Zinc finger protein 148
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ZNF148
SynonymsGene synonyms aliases
BERF-1, BFCOL1, GDACCF, HT-BETA, ZBP-89, ZFP148, pHZ-52
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.2
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Causal
Disease name Disease term 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, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
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 name Disease term dbSNP ID References
Aortic coarctation Aortic coarctation
Congenital clubfoot Congenital clubfoot
Congenital epicanthus Congenital Epicanthus
Dwarfism Dwarfism

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