Gene
INPP4A
inositol polyphosphate-4-phosphatase type I A
- HGNC 6074↗(opens in a new tab)
- Ensembl gene ENSG00000040933↗(opens in a new tab)
- NCBI Gene 3631↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q11.2
- Coordinates
- Chromosome 2: 98,444,858–98,594,392 (GRCh38)
- Exons
- 25 exons across 149.5 kb
- Protein
- 972 amino acids
- Previous symbols
- INPP4
- MANE Select transcript
- ENST00000409851.8NM_001134225.2
- 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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How INPP4A 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 10.1 kb of the gene's 149.5 kb; 2,919 of those bases code for the protein.
How a genome test reads INPP4A
1
position in INPP4A 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 149.5 kb of INPP4A, introns included, not only the 10.1 kb of exons.
Traits linked to INPP4A
The Human Phenotype Ontology lists these as features of the rare conditions INPP4A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Absent speech development
- Agitation
- Ataxia
- Bilateral tonic-clonic seizure with generalized onset
- Cerebellar vermis hypoplasia
- Choking episodes
- Delayed ability to walk
Show 47 more traits
- Delayed speech and language development
- EEG abnormality
- EEG with burst suppression
- EEG with polyspike wave complexes
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal clonic seizure
- Global developmental delay
- Hypsarrhythmia
- Inability to walk by childhood/adolescence
- Infantile spasms
- Intellectual disability
- Intellectual disability, severe
- Intention tremor
- Interictal epileptiform activity
- IQ between 34 and 49
- IQ less than 20
- Irritability
- Lack of coordination of movement
- Myoclonic seizure
- No social interaction
- Poor eye contact
- Poor sleep
- Reduced social smiling
- Tonic seizure
- Tremor
- Upper limb hyperreflexia
- Difficulty articulating speech
- Babinski sign
- Delayed CNS myelination
- Hypoplasia of the pons
- Overactive lower leg reflex
- Reduced cerebral white matter volume
- Thin corpus callosum
- Ventriculomegaly
- Choreoathetosis
- Clonus
- Drowsiness
- Dystonia
- Encephalopathy
- Epilepsy
- Jerking
- Reading disability
- Small brainstem
- Small cerebellum
- Small cerebrum
- Titubation
- Loss of developmental milestones
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.
- 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.). INPP4A gene: inositol polyphosphate-4-phosphatase type I A. Retrieved 17 October 2026, from https://dantelabs.com/genes/inpp4a
Dante Labs. INPP4A gene: inositol polyphosphate-4-phosphatase type I A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/inpp4a
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