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Aliases for ZNF148 Gene

Aliases for ZNF148 Gene

  • Zinc Finger Protein 148 2 3 5
  • Zinc Finger DNA-Binding Protein 89 3 4
  • Transcription Factor ZBP-89 3 4
  • Zinc Finger Protein 148 (PHZ-52) 2
  • CLL-Associated Antigen KW-10 3
  • CACCC Box-Binding Protein 3
  • HT-BETA 3
  • BERF-1 3
  • BFCOL1 3
  • GDACCF 3
  • ZBP-89 3
  • ZFP148 3
  • PHZ-52 3
  • ZBP89 4

External Ids for ZNF148 Gene

Previous GeneCards Identifiers for ZNF148 Gene

  • GC03M121701
  • GC03M124981
  • GC03M126232
  • GC03M126271
  • GC03M126433
  • GC03M122320
  • GC03M124944

Summaries for ZNF148 Gene

Entrez Gene Summary for ZNF148 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 ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]

GeneCards Summary for ZNF148 Gene

ZNF148 (Zinc Finger Protein 148) is a Protein Coding gene. Diseases associated with ZNF148 include Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies and Split Hand-Foot Malformation 1. GO annotations related to this gene include nucleic acid binding and sequence-specific DNA binding. An important paralog of this gene is ZNF281.

UniProtKB/Swiss-Prot for ZNF148 Gene

  • 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.

Gene Wiki entry for ZNF148 Gene

Additional gene information for ZNF148 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF148 Gene

Genomics for ZNF148 Gene

Regulatory Elements for ZNF148 Gene

Enhancers for ZNF148 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H125645 0.9 ENCODE 52.7 -272.0 -271996 2 FOXA2 PKNOX1 ZNF493 ZFP64 RAD21 ZNF138 FOS ZNF202 ZNF654 ZNF680 ZNF148 ZXDC UMPS OR7E29P ENSG00000242001 FAM86JP LOC101927056 LOC100419878 SLC41A3 ENSG00000243072
GH03H126212 1.1 Ensembl ENCODE 19.8 -837.9 -837872 1 HDGF TBP ARID4B YBX1 ZBTB7B RAD21 ZNF366 ZNF207 MXD4 ZNF592 ZXDC ZNF148 ALDH1L1 ALG1L LOC105374086
GH03H124810 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +562.0 561957 5 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS REST UMPS ZNF148 ENSG00000280042 ENO1P3
GH03H126260 1.4 Ensembl ENCODE dbSUPER 13.3 -885.7 -885747 0 DMAP1 RAD21 RARA ZNF766 ATF7 THAP11 SP5 CEBPB ZEB2 HDAC8 ZNF148 ENSG00000250934 PIR51646
GH03H125000 1.3 ENCODE dbSUPER 10.5 +372.4 372371 4 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ATF7 SP5 MUC13 RNU6-232P ZNF148 SLC12A8 HEG1 PIR63061
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF148 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF148 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000157745 354 2001 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Location for ZNF148 Gene

Chromosome:
3
Start:
125,225,561 bp from pter
End:
125,375,354 bp from pter
Size:
149,794 bases
Orientation:
Minus strand

Genomic View for ZNF148 Gene

Genes around ZNF148 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF148 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF148 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF148 Gene

Proteins for ZNF148 Gene

  • Protein details for ZNF148 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQR1-ZN148_HUMAN
    Recommended name:
    Zinc finger protein 148
    Protein Accession:
    Q9UQR1
    Secondary Accessions:
    • D3DN27
    • O00389
    • O43591
    • Q58EY5
    • Q6PJ98

    Protein attributes for ZNF148 Gene

    Size:
    794 amino acids
    Molecular mass:
    88976 Da
    Quaternary structure:
    • Interacts with HNRNPDL (PubMed:15190078). Interacts with the 5FMC complex; the interaction requires association with CHTOP. Interacts with CAVIN1 (By similarity).

    Alternative splice isoforms for ZNF148 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF148 Gene

Post-translational modifications for ZNF148 Gene

  • Sumoylated with SUMO2. Desumoylated by SENP3, resulting in the stimulation of transcription of its target genes (By similarity).
  • Ubiquitination at Lys153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZNF148 Gene

Domains & Families for ZNF148 Gene

Gene Families for ZNF148 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF148 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UQR1

UniProtKB/Swiss-Prot:

ZN148_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF148: view

Function for ZNF148 Gene

Molecular function for ZNF148 Gene

GENATLAS Biochemistry:
zinc finger protein 148 (C2H2 type,Kruppel-like),functioning as a beta enolase repressor factor 1
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ZNF148 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12771217
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12771217
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with ZNF148: view
genes like me logo Genes that share phenotypes with ZNF148: view

Animal Models for ZNF148 Gene

MGI Knock Outs for ZNF148:

Animal Model Products

CRISPR Products

miRNA for ZNF148 Gene

miRTarBase miRNAs that target ZNF148

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZNF148
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNF148 Gene

Localization for ZNF148 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF148 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF148 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZNF148 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with ZNF148: view

Pathways & Interactions for ZNF148 Gene

SuperPathways for ZNF148 Gene

No Data Available

SIGNOR curated interactions for ZNF148 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ZNF148 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 12771217
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 9685330
GO:0006461 protein complex assembly IEA --
genes like me logo Genes that share ontologies with ZNF148: view

No data available for Pathways by source for ZNF148 Gene

Drugs & Compounds for ZNF148 Gene

(1) Drugs for ZNF148 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2359

(1) Additional Compounds for ZNF148 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ZNF148: view

Transcripts for ZNF148 Gene

Unigene Clusters for ZNF148 Gene

Zinc finger protein 148:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZNF148
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF148 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b
SP1: - - - - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - - - - -
SP6: - -
SP7: -
SP8:

Relevant External Links for ZNF148 Gene

GeneLoc Exon Structure for
ZNF148
ECgene alternative splicing isoforms for
ZNF148

Expression for ZNF148 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF148 Gene

Protein differential expression in normal tissues from HIPED for ZNF148 Gene

This gene is overexpressed in CD8 Tcells (16.0), Peripheral blood mononuclear cells (10.6), and Pancreatic juice (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNF148 Gene



Protein tissue co-expression partners for ZNF148 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNF148 Gene:

ZNF148

SOURCE GeneReport for Unigene cluster for ZNF148 Gene:

Hs.592591

Evidence on tissue expression from TISSUES for ZNF148 Gene

  • Kidney(4.2)
  • Liver(4.2)
  • Nervous system(4)
  • Pancreas(2.4)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with ZNF148: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF148 Gene

Orthologs for ZNF148 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF148 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF148 33
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia ZNF148 33 34
  • 95.8 (n)
dog
(Canis familiaris)
Mammalia ZNF148 33 34
  • 94.75 (n)
mouse
(Mus musculus)
Mammalia Zfp148 33 16 34
  • 92.99 (n)
rat
(Rattus norvegicus)
Mammalia Zfp148 33
  • 92.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF148 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF148 33 34
  • 85.08 (n)
lizard
(Anolis carolinensis)
Reptilia ZNF148 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487127 33
  • 64.98 (n)
zebrafish
(Danio rerio)
Actinopterygii znf148 33 34
  • 65.64 (n)
wufb06h05 33
Species where no ortholog for ZNF148 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF148 Gene

ENSEMBL:
Gene Tree for ZNF148 (if available)
TreeFam:
Gene Tree for ZNF148 (if available)

Paralogs for ZNF148 Gene

Paralogs for ZNF148 Gene

genes like me logo Genes that share paralogs with ZNF148: view

Variants for ZNF148 Gene

Sequence variations from dbSNP and Humsavar for ZNF148 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1057519265 Pathogenic 125,232,934(-) CAGAT(A/T)AAGCC reference, stop-gained
rs1057519266 Pathogenic 125,233,142(-) ATTAA(-/A)GAGTA reference, frameshift-variant
rs1057519267 Pathogenic 125,233,755(-) AAAAT(-/T)CATCT reference, frameshift-variant
rs1057519268 Pathogenic 125,233,144(-) AGATT(-/C)AAGAG reference, frameshift-variant
rs1000004499 -- 125,256,557(+) TGTAA(C/T)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZNF148 Gene

Variant ID Type Subtype PubMed ID
dgv2589n106 CNV deletion 24896259
esv1126785 CNV deletion 17803354
esv2651756 CNV deletion 19546169
esv2657697 CNV deletion 23128226
esv2725855 CNV deletion 23290073
esv994465 CNV deletion 20482838
nsv1011457 CNV gain 25217958
nsv10311 CNV gain 18304495
nsv1073675 CNV deletion 25765185
nsv1151249 CNV deletion 26484159
nsv1160974 CNV duplication 26073780
nsv508239 CNV deletion 20534489
nsv509849 OTHER sequence alteration 20534489
nsv591465 CNV gain 21841781
nsv829713 CNV gain 17160897

Variation tolerance for ZNF148 Gene

Residual Variation Intolerance Score: 7.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF148 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF148

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF148 Gene

Disorders for ZNF148 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZNF148 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN148_HUMAN
  • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) [MIM:617260]: An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. {ECO:0000269 PubMed:27964749}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZNF148

Genetic Association Database (GAD)
ZNF148
Human Genome Epidemiology (HuGE) Navigator
ZNF148
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF148
genes like me logo Genes that share disorders with ZNF148: view

No data available for Genatlas for ZNF148 Gene

Publications for ZNF148 Gene

  1. Association analysis of cystatin A and zinc finger protein 148, two genes located at the psoriasis susceptibility locus PSORS5. (PMID: 15175029) Samuelsson L … Wahlström J (The Journal of investigative dermatology 2004) 3 22 45 60
  2. Human stromelysin gene promoter activity is modulated by transcription factor ZBP-89. (PMID: 10359087) Ye S … Henney A (FEBS letters 1999) 3 4 22 60
  3. The gene encoding the transcriptional repressor BERF-1 maps to a region of conserved synteny on mouse chromosome 16 and human chromosome 3 and a related pseudogene maps to mouse chromosome 8. (PMID: 9925940) Antona V … Feo S (Cytogenetics and cell genetics 1998) 2 3 22 60
  4. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. (PMID: 27964749) Stevens SJ … Brunner HG (Genome medicine 2016) 3 4 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for ZNF148 Gene

Sources for ZNF148 Gene

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