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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZNF148
zinc finger protein 148
Chromosome 3 Β· 3q21.2
NCBI Gene: 7707Ensembl: ENSG00000163848.22HGNC: HGNC:12933UniProt: Q9UQR1
138PubMed Papers
21Diseases
0Drugs
25Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptionnucleoplasmDNA-binding transcription repressor activity, RNA polymerase II-specificnegative regulation of gene expressionglobal developmental delay, absent or hypoplastic corpus callosum, and dysmorphic faciesneurodegenerative diseaseatrial fibrillationgenetic disorder
✦AI Summary

ZNF148 is a zinc finger transcription factor that functions as both a transcriptional repressor and activator depending on cellular context. It binds to G-rich box sequences in gene enhancer regions to regulate transcription 1. In endothelial cells, ZNF148 interacts with ATG7 to modulate STAT1 expression, which subsequently suppresses HIF1A transcription and impairs ischemia-induced angiogenesis 1. ZNF148 also serves as a transcriptional regulator of TERT promoter mutations, activating telomerase expression in cancer cells 2. In head and neck squamous cell carcinoma, ZNF148 cooperates with p63 to enhance CCND1 expression through eRNA regulation, promoting tumor cell proliferation 3. Conversely, in breast cancer, ZNF148 acts as a tumor suppressor by repressing ID1/ID3 stemness factors 4. In esophageal squamous cell carcinoma, ZNF148 is targeted by the miR-143-3p/circRNA axis, with downregulation promoting cancer progression 5. Clinically, ZNF148 mutations cause neurodevelopmental disorders, with pathogenic variants producing ZNF148-related neurodevelopmental disorder characterized by global developmental delay, growth retardation, microcephaly, and facial dysmorphism 67. ZNF148 mutations are also emerging as potential diagnostic markers for thyroid malignancy classification 8.

Sources cited
1
ZNF148 interacts with ATG7 and regulates STAT1 expression and HIF1A suppression in endothelial cell angiogenesis
PMID: 36300763
2
ZNF148 binds to and activates TERT wild-type promoter sequences to upregulate telomerase activity
PMID: 37918959
3
ZNF148 cooperates with p63 to regulate CCND1 eRNA and cyclin D1 expression in head and neck squamous cell carcinoma
PMID: 40623191
4
ZNF148 functions as a tumor suppressor by repressing ID1/ID3 cancer stemness factors in breast cancer
PMID: 36207293
5
ZNF148 is targeted by miR-143-3p in esophageal squamous cell carcinoma, with reduced expression promoting cancer cell proliferation and invasion
PMID: 41020579
6
ZNF148 pathogenic variants cause ZNF148-related neurodevelopmental disorder with developmental delay, growth retardation, microcephaly, and dysmorphic features
PMID: 37580113
7
ZNF148 truncating variants are associated with intellectual disability, autism spectrum disorder, and attention-deficit hyperactivity disorder
PMID: 36444493
8
ZNF148 mutations serve as diagnostic markers for thyroid nodule classification in combination with BRAF, EZH1, and SPOP mutations
PMID: 37572175
Disease Associationsβ“˜21
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic faciesOpen Targets
0.72Strong
neurodegenerative diseaseOpen Targets
0.52Moderate
atrial fibrillationOpen Targets
0.39Weak
genetic disorderOpen Targets
0.38Weak
Neurodevelopmental disorderOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.34Weak
poisoningOpen Targets
0.21Weak
bone fractureOpen Targets
0.19Weak
autism spectrum disorderOpen Targets
0.12Weak
bronchopneumoniaOpen Targets
0.11Weak
Lung AbscessOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
gastrointestinal stromal tumorOpen Targets
0.07Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic faciesUniProt
Pathogenic Variants25
NM_021964.3(ZNF148):c.1624C>T (p.Gln542Ter)Pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 542
NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)Pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|Intellectual disability
β˜…β˜…β˜†β˜†2021β†’ Residue 544
NM_021964.3(ZNF148):c.702G>T (p.Met234Ile)Pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2026β†’ Residue 234
NM_021964.3(ZNF148):c.1251T>G (p.Tyr417Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 417
NM_021964.3(ZNF148):c.917C>G (p.Ser306Ter)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2025β†’ Residue 306
NM_021964.3(ZNF148):c.2248delinsTATTC (p.Thr750fs)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2025β†’ Residue 750
NM_021964.3(ZNF148):c.1663_1664del (p.Gln555fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 555
NM_021964.3(ZNF148):c.1665del (p.Gln555fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 555
NM_021964.3(ZNF148):c.668-1G>ALikely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2024
NM_021964.3(ZNF148):c.1593dup (p.Asp532Ter)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2023β†’ Residue 532
NM_021964.3(ZNF148):c.1195_1199del (p.Arg399fs)Pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2022β†’ Residue 399
NM_021964.3(ZNF148):c.1268C>A (p.Ser423Ter)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2022β†’ Residue 423
NM_021964.3(ZNF148):c.734A>G (p.His245Arg)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2022β†’ Residue 245
NM_021964.3(ZNF148):c.1913C>A (p.Pro638Gln)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 638
NM_021964.3(ZNF148):c.1170_1173del (p.Leu390fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 390
NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2018β†’ Residue 282
NM_021964.3(ZNF148):c.1504C>T (p.Gln502Ter)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2018β†’ Residue 502
NM_021964.3(ZNF148):c.1191_1194del (p.Ser397fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 397
NM_021964.3(ZNF148):c.1581_1582insC (p.Lys528fs)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 528
NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜…β˜†β˜†β˜†2017β†’ Residue 778
View on ClinVar β†—
Related Genes
TP53Protein interaction100%HDAC1Protein interaction100%ODC1Protein interaction79%SYPL2Shared pathway33%ZNF430Shared pathway33%GNB4Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
80%
Ovary
51%
Lung
47%
Liver
43%
Bone Marrow
32%
Gene Interaction Network
Click a node to explore
ZNF148TP53HDAC1ODC1SYPL2ZNF430GNB4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UQR1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.21Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.06–0.21]
RankingsWhere ZNF148 stands among ~20K protein-coding genes
  • #3,358of 20,598
    Most Researched138 Β· top quartile
  • #1,973of 5,498
    Most Pathogenic Variants25
  • #496of 17,882
    Most Constrained (LOEUF)0.21 Β· top 5%
Genes detectedZNF148
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Ablation of endothelial
PMID: 36300763
Autophagy Β· 2023
1.00
2
A Combination of BRAF and EZH1/SPOP/ZNF148 Three-Gene Mutational Classifier Improves Benign Call Rate in Indeterminate Thyroid Nodules.
PMID: 37572175
Endocr Pathol Β· 2023
0.90
3
p63 and ZNF148 cooperate to regulate head and neck squamous cell carcinoma.
PMID: 40623191
Proc Natl Acad Sci U S A Β· 2025
0.80
4
E4F1 and ZNF148 are transcriptional activators of the -57A > C and wild-type
PMID: 37918959
Genome Res Β· 2023
0.70
5
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with
PMID: 37580113
J Med Genet Β· 2024
0.60