Gene
SRRM2
serine/arginine repetitive matrix 2
- HGNC 16639↗(opens in a new tab)
- Ensembl gene ENSG00000167978↗(opens in a new tab)
- NCBI Gene 23524↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p13.3
- Coordinates
- Chromosome 16: 2,752,638–2,771,412 (GRCh38)
- Exons
- 15 exons across 18.8 kb
- Protein
- 2,752 amino acids
- Also known as
- SRm300, SRL300, KIAA0324, Cwc21
- MANE Select transcript
- ENST00000301740.13NM_016333.4
- Locus type
- gene with protein product
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
- 4 GenCC submitters rate it definitive or strong
How SRRM2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 9 kb of the gene's 18.8 kb; 8,259 of those bases code for the protein.
How a genome test reads SRRM2
46
positions in SRRM2 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 18.8 kb of SRRM2, introns included, not only the 9 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 SRRM2
The Human Phenotype Ontology lists these as features of the rare conditions SRRM2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Delayed speech and language development
- Intellectual disability, mild
- Autism spectrum disorder
- Delayed ability to walk
- Overfriendliness
- Anxiety
- Attention deficit
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.). SRRM2 gene: serine/arginine repetitive matrix 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/srrm2
Dante Labs. SRRM2 gene: serine/arginine repetitive matrix 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/srrm2
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