Gene
NEXMIF
neurite extension and migration factor
- HGNC 29433↗(opens in a new tab)
- Ensembl gene ENSG00000050030↗(opens in a new tab)
- NCBI Gene 340533↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq13.3
- Coordinates
- Chromosome X: 74,732,856–74,925,452 (GRCh38)
- Exons
- 4 exons across 192.6 kb
- Protein
- 1,516 amino acids
- Also known as
- XPN, MRX98, KIDLIA
- Previous symbols
- KIAA2022
- MANE Select transcript
- ENST00000055682.12NM_001008537.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Epilepsy (Full Panel)
- X-Linked Complex Neurodevelopmental Disorder
A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
Broader groupings
Intellectual Disability
One of 233 genes linked to it
- 3 GenCC submitters rate it definitive or strong
How NEXMIF 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 11.7 kb of the gene's 192.6 kb; 4,551 of those bases code for the protein.
How a genome test reads NEXMIF
68
positions in NEXMIF 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 192.6 kb of NEXMIF, introns included, not only the 11.7 kb of exons.
Genes linked to the same conditions
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 2 conditions
- CLCN4Cl-/H+ antiporter 4Shares 2 conditions
- CNKSR2connector enhancer of kinase suppressor of Ras 2Shares 2 conditions
- FRMPD4FERM and PDZ domain containing 4Shares 2 conditions
- FTSJ1FtsJ RNA 2'-O-methyltransferase 1Shares 2 conditions
- GRIA3glutamate ionotropic receptor AMPA type subunit 3Shares 2 conditions
- HNRNPH2heterogeneous nuclear ribonucleoprotein H2Shares 2 conditions
- IL1RAPL1interleukin 1 receptor accessory protein like 1Shares 2 conditions
- IQSEC2IQ motif and Sec7 domain ArfGEF 2Shares 2 conditions
- KDM5Clysine demethylase 5CShares 2 conditions
- PAK3p21 (RAC1) activated kinase 3Shares 2 conditions
- PCDH19protocadherin 19Shares 2 conditions
Traits linked to NEXMIF
The Human Phenotype Ontology lists these as features of the rare conditions NEXMIF can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- Tonic seizure
- Autism spectrum disorder
- Decrease in size of the outer layer of the brain due to loss of brain cells
- EEG with focal spike waves
Show 44 more traits
- Generalized myoclonic-atonic seizure
- Repetitive movements
- Severe global developmental delay
- Tetraparesis
- Aggressive behavior
- Attention deficit
- Bilateral tonic-clonic seizure with generalized onset
- Brief seizures with staring spells
- Delayed ability to sit
- EEG with polyspike wave complexes
- Epilepsy
- Generalized myoclonic seizure
- Grand mal seizures
- Lack of peer relationships
- More active than typical
- Poor eye contact
- Recurrent hand flapping
- Sudden loss of muscle tone
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Abnormal emotional state
- Anxiety
- Ataxia
- Binge and purge
- Brain imaging abnormality
- EEG with generalized slow activity
- EEG with irregular generalized spike and wave complexes
- Hypsarrhythmia
- Infantile spasms
- Interictal epileptiform activity
- Poor social interactions
- Self-biting
- Simple febrile seizure
- Stereotypical body rocking
- Stereotypical hand wringing
- Stuttering
- Teeth grinding
- Tremor
- Abnormal pyramidal sign
- Epileptic encephalopathy
- Seizure affecting one half of brain
- Unsteady walk
- Epileptic spasm
- Repeated seizures without recovery between them
Abnormality of head or neck
- Decreased volume of lip
- Downward slanting of the opening between the eyelids
- Long nose
- Open mouth
- Prominent nasal bridge
- Underdeveloped tissue around nostril
- Short nose
- Short philtrum
Show 19 more traits
- Tented mouth
- Development of small head that was not present at birth
- Narrow forehead
- Round face
- Big lower jaw
- Depressed nasal bridge
- Downturned corners of mouth
- Drooling
- Abnormal facial shape
- Abnormally small head
- Broad philtrum
- Full lower lip
- Long philtrum
- Nasal tip, upturned
- Prominent forehead
- Thick nasal alae
- Thin red part of the upper lip
- Wide mouth
- Wide nasal bridge
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.). NEXMIF gene: neurite extension and migration factor. Retrieved 17 October 2026, from https://dantelabs.com/genes/nexmif
Dante Labs. NEXMIF gene: neurite extension and migration factor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nexmif
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