Gene
SRPX2
sushi repeat containing protein X-linked 2
- HGNC 30668↗(opens in a new tab)
- Ensembl gene ENSG00000102359↗(opens in a new tab)
- NCBI Gene 27286↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq22.1
- Coordinates
- Chromosome X: 100,644,199–100,675,788 (GRCh38)
- Exons
- 11 exons across 31.6 kb
- Protein
- 465 amino acids
- Also known as
- SRPUL
- MANE Select transcript
- ENST00000373004.5NM_014467.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/srpx2.json"
page <- fromJSON(url)
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No Genome Test report reads SRPX2 yet. The test sequences your whole genome, so your data includes it all the same.
How SRPX2 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 6.6 kb of the gene's 31.6 kb; 1,398 of those bases code for the protein.
Sequencing SRPX2
1Low
How hard SRPX2 is to sequence with short reads, out of 100Each bar is the share of SRPX2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.3.1%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.2.2%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
1
position in SRPX2 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 31.6 kb of SRPX2, introns included, not only the 6.6 kb of exons.
Traits linked to SRPX2
The Human Phenotype Ontology lists these as features of the rare conditions SRPX2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormality of neuronal migration
- Bilateral perisylvian polymicrogyria
- Delayed speech and language development
- EEG with centrotemporal focal spike waves
- Epilepsy
- Speech apraxia
- Bilateral tonic-clonic seizure with focal onset
- Continuous spike and waves during slow sleep
Show 41 more traits
- EEG with central focal spikes
- EEG with focal sharp waves
- EEG with generalized epileptiform discharges
- EEG with parietal focal spikes
- EEG with polyspike wave complexes
- Focal hemifacial clonic seizure
- Global developmental delay
- Increased reflexes
- Intellectual disability
- Language impairment
- Pauses in breathing while sleeping
- Perisylvian predominant thick cortex pachygyria
- Seizure affecting one half of brain
- Specific learning disability
- Speech articulation difficulties
- Abnormal prosody
- Abnormally low-pitched voice
- Anxiety
- Attention deficit
- Can't control feelings
- Cerebellar dysplasia
- Cerebellar vermis hypoplasia
- Depression
- Difficulty articulating speech
- Dysesthesia
- EEG with frontal focal spikes
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal sensory seizure
- Incomprehensible speech
- Infantile spasms
- Intellectual disability, borderline
- Lack of coordination of movement
- Migraine
- Oromotor apraxia
- Partial paralysis of legs
- Pins and needles feeling
- Short attention span
- Underdevelopment of part of brain called corpus callosum
- Atypical absence seizure
- EEG with irregular generalized spike and wave complexes
- Intellectual disability, mild
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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). SRPX2 gene: sushi repeat containing protein X-linked 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/srpx2
Dante Labs. SRPX2 gene: sushi repeat containing protein X-linked 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/srpx2
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