Gene
POGZ
pogo transposable element derived with ZNF domain
- HGNC 18801↗(opens in a new tab)
- Ensembl gene ENSG00000143442↗(opens in a new tab)
- NCBI Gene 23126↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q21.3
- Coordinates
- Chromosome 1: 151,402,724–151,459,494 (GRCh38)
- Exons
- 19 exons across 56.8 kb
- Protein
- 1,410 amino acids
- Also known as
- KIAA0461, ZNF635, ZNF280E
- MANE Select transcript
- ENST00000271715.7NM_015100.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How POGZ is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.7 kb of the gene's 56.8 kb; 4,233 of those bases code for the protein.
How a genome test reads POGZ
110
positions in POGZ where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 56.8 kb of POGZ, introns included, not only the 6.7 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to POGZ
The Human Phenotype Ontology lists these as features of the rare conditions POGZ can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed fine motor development
- Small cerebellum
- Ventriculomegaly
- Delayed motor skills
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- Anxiety
Show 37 more traits
- Attention deficit
- Autism spectrum disorder
- Degeneration of cerebrum
- Delayed CNS myelination
- Difficulty sleeping
- Epilepsy
- Intellectual disability, mild
- Low frustration tolerance
- More active than typical
- Motor delay
- Obstructive sleep apnea
- Poor social interactions
- Self-injurious behavior
- Severe expressive language delay
- Simplified gyral pattern
- Small brainstem
- Thin corpus callosum
- Underdevelopment of part of brain called corpus callosum
- Absent speech development
- Aggressive behavior
- Bilateral tonic-clonic seizure with generalized onset
- EEG abnormality
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal impaired awareness seizure
- Intellectual disability, severe
- Irritability
- Overfriendliness
- Repetitive movements
- Tic disorder
- Waddling gait
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebellum
- Delayed myelination
- Hypoplasia of the pons
- Incoordination
- Obsessive compulsive behavior
- Subcortical cerebral atrophy
Abnormality of head or neck
- Depressed nasal tip
- Exaggerated cupid's bow
- Abnormal facial shape
- Abnormally large tongue
- Abnormally small head
- Big lower jaw
- Broad forehead
- Broad head shape
Show 32 more traits
- Broad nasal tip
- Dandy-Walker malformation
- Decreased facial muscle tone
- Decreased volume of lip
- Depressed nasal bridge
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Drooping lower lip
- Drooping upper lip
- Eye folds
- High palate
- Highly arched eyebrow
- Midface retrusion
- Open mouth
- Pear-shaped nose
- Pointed chin
- Receding chin
- Short neck
- Short philtrum
- Sparse eyebrow
- Thin red part of the upper lip
- Wide mouth
- Asymmetry of the posterior head
- Bifid uvula
- Cleft palate
- Extra bones within cranial sutures
- Little lower jaw
- Narrow forehead
- Narrow mouth
- Upward slanting of the opening between the eyelids
- Zygomatic flattening
- Enlarged cisterna magna
Abnormality of the digestive system
- Abnormality of the gastrointestinal tract
- Constipation
- Episodic vomiting
- Feeding difficulties
- Feeding difficulties in infancy
- Acid reflux
- Chronic constipation
- Inguinal hernia
Show 3 more traits
Abnormality of the musculoskeletal system
- Appendicular hypotonia
- Decreased muscle tone in infant
- Generalized decreased muscle tone
- Low muscle tone in trunk
- Congenital diaphragmatic hernia
- Double-Jointed
- Hypoplastic cervical vertebrae
- Joint contracture
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). POGZ gene: pogo transposable element derived with ZNF domain. Retrieved 17 October 2026, from https://dantelabs.com/genes/pogz
Dante Labs. POGZ gene: pogo transposable element derived with ZNF domain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pogz
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