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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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POGZ
pogo transposable element derived with ZNF domain
Chromosome 1 Β· 1q21.3
NCBI Gene: 23126Ensembl: ENSG00000143442.24HGNC: HGNC:18801UniProt: A0A8V8TQ67
139PubMed Papers
21Diseases
0Drugs
198Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHomologous RecombinationTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
double-strand break repair via homologous recombinationkinetochore assemblynucleuschromatinintellectual disability-microcephaly-strabismus-behavioral abnormalities syndromewhite-sutton syndromeIntellectual disabilityautism spectrum disorder
✦AI Summary

POGZ is a chr1-regulating zinc finger protein with multiple roles in cellular and developmental processes. Functionally, POGZ promotes chr1 accessibility and active transcription of clustered synaptic genes 1, and it regulates gene expression through binding at euchromatic loci and regulatory elements 1. POGZ operates as a component of the CHAMP1 complex, which directs heterochromatin assembly and promotes homology-directed DNA repair of double-strand breaks 2. Additionally, POGZ regulates hemoglobin switching by silencing embryonic and fetal globin expression through BCL11A regulation 3. Diseases associated with POGZ include autism spectrum disorder (ASD) and intellectual disability (ID). POGZ is among the most prevalent genes for recurrent de novo mutations in ASD patients 4, and pathogenic variants have been identified in ID/ASD cohorts 5. Loss of POGZ function impairs normal neurodevelopment, with conditional knockout studies showing altered electrophysiological properties in both excitatory and inhibitory neurons 6. Clinically, understanding POGZ's role in chr1 regulation and gene expression provides potential therapeutic targets for neurodevelopmental disorders and insights into disease mechanisms. The gene's involvement in DNA repair and heterochromatin assembly further suggests relevance to genomic stability.

Sources cited
1
POGZ promotes chromatin accessibility and expression of clustered synaptic genes at euchromatic loci and regulatory elements
PMID: 34879283
2
POGZ is a component of the CHAMP1 complex that directs heterochromatin assembly and promotes homology-directed DNA repair
PMID: 39962076
3
POGZ regulates hemoglobin switching by silencing embryonic and fetal globin expression through BCL11A regulation
PMID: 29898395
4
POGZ is among the most prevalent genes for recurrent de novo mutations in autism spectrum disorder patients
PMID: 27824329
5
Pathogenic variants in POGZ are detected in intellectual disability and autism spectrum disorder cohorts
PMID: 34948243
6
Loss of POGZ function affects electrophysiological properties of excitatory and inhibitory neurons in the brain
PMID: 38534384
Disease Associationsβ“˜21
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndromeOpen Targets
0.78Strong
white-sutton syndromeOpen Targets
0.65Moderate
Intellectual disabilityOpen Targets
0.63Moderate
autism spectrum disorderOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
Neurodevelopmental disorderOpen Targets
0.49Moderate
microcephalyOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.34Weak
StrabismusOpen Targets
0.34Weak
BrachycephalyOpen Targets
0.34Weak
Absent speechOpen Targets
0.34Weak
Anteverted naresOpen Targets
0.34Weak
Downturned corners of mouthOpen Targets
0.34Weak
High palateOpen Targets
0.34Weak
HypertelorismOpen Targets
0.34Weak
Inability to walk by childhood/adolescenceOpen Targets
0.34Weak
SeizureOpen Targets
0.34Weak
Severe global developmental delayOpen Targets
0.34Weak
Speech apraxiaOpen Targets
0.34Weak
White-Sutton syndromeUniProt
Pathogenic Variants198
NM_015100.4(POGZ):c.3022C>T (p.Arg1008Ter)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1008
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 508
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter)Pathogenic
not provided|See cases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 784
NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 903
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 379
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)Pathogenic
not provided|dysmorphy;intellectual deficiency|See cases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Neurodevelopmental disorder|POGZ-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 394
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1001
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)Pathogenic
Inborn genetic diseases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 997
NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 972
NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter)Pathogenic
Intellectual disability|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 770
NM_015100.4(POGZ):c.1679-2A>GPathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Intellectual disability
β˜…β˜…β˜†β˜†2024
NM_015100.4(POGZ):c.3312del (p.Phe1104fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1104
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter)Pathogenic
Inborn genetic diseases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 770
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided|Neurodevelopmental disorder|Inborn genetic diseases|POGZ-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1154
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)Pathogenic
not provided|See cases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 1087
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)Pathogenic
not provided|Global developmental delay;Speech apraxia|Intellectual disability|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 1014
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)Pathogenic
not provided|Inborn genetic diseases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 698
NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 1040
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1142
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 864
View on ClinVar β†—
Related Genes
PSIP1Protein interaction97%CHD4Protein interaction88%MAD2L2Protein interaction88%CBX1Protein interaction88%CBX3Protein interaction88%CBX5Protein interaction88%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
80%
Liver
49%
Lung
42%
Brain
41%
Heart
36%
Gene Interaction Network
Click a node to explore
POGZPSIP1CHD4MAD2L2CBX1CBX3CBX5
PROTEIN STRUCTURE
Preparing viewer…
PDB2E72 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.08–0.20]
RankingsWhere POGZ stands among ~20K protein-coding genes
  • #3,316of 20,598
    Most Researched139 Β· top quartile
  • #344of 5,498
    Most Pathogenic Variants198 Β· top 10%
  • #440of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedPOGZ
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID: 27824329
Nat Commun Β· 2016
1.00
2
Large-scale discovery of novel genetic causes of developmental disorders.
PMID: 25533962
Nature Β· 2015
0.90
3
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
PMID: 34948243
Int J Mol Sci Β· 2021
0.80
4
PMID: 34529370
0.70
5
Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.
PMID: 34879283
Cell Rep Β· 2021
0.60