Gene
SCP2
sterol carrier protein 2
- HGNC 10606↗(opens in a new tab)
- Ensembl gene ENSG00000116171↗(opens in a new tab)
- NCBI Gene 6342↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p32.3
- Coordinates
- Chromosome 1: 52,927,276–53,051,698 (GRCh38)
- Exons
- 16 exons across 124.4 kb
- Protein
- 547 amino acids
- Also known as
- nsLTP, SCPx, SCP-X
- MANE Select transcript
- ENST00000371514.8NM_002979.5
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
How SCP2 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 2.8 kb of the gene's 124.4 kb; 1,644 of those bases code for the protein.
How a genome test reads SCP2
5
positions in SCP2 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 124.4 kb of SCP2, introns included, not only the 2.8 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
- ACER3alkaline ceramidase 3Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1Shares 1 condition
- AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2Shares 1 condition
- ALDH3A2aldehyde dehydrogenase 3 family member A2Shares 1 condition
- ARSAarylsulfatase AShares 1 condition
- ASPAaspartoacylaseShares 1 condition
- ATP11AATPase phospholipid transporting 11AShares 1 condition
- CLCN2chloride voltage-gated channel 2Shares 1 condition
Traits linked to SCP2
The Human Phenotype Ontology lists these as features of the rare conditions SCP2 can cause. Each trait's page lists the other genes linked to it.
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.). SCP2 gene: sterol carrier protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/scp2
Dante Labs. SCP2 gene: sterol carrier protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/scp2
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