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Gene

ERLIN2

ER lipid raft associated 2

Summary

Cytogenetic location
8p11.23
Coordinates
Chromosome 8: 37,736,634–37,758,422 (GRCh38)
Exons
12 exons across 21.8 kb
Protein
339 amino acids
Also known as
NET32, Erlin-2
Previous symbols
C8orf2, SPFH2, SPG18
MANE Select transcript
ENST00000519638.3NM_007175.8
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Hereditary Spastic Paraplegia

      • Hereditary Spastic Paraplegia (All Types)

        One of 66 genes linked to it

        Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong

    How ERLIN2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 8, with a bracket where ERLIN2 sits. ERLIN2 and 14 genes near it on chromosome 8, from 37,247,528 to 38,247,527.Chromosome 88p11.23p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.337.4 Mb37.6 Mb37.8 Mb38 Mb38.2 MbZNF703: 37,695,744–37,700,019, forward strandZNF703ERLIN2: 37,736,634–37,758,422, forward strandERLIN2PLPBP: 37,762,580–37,782,218, forward strandPLPBPADGRA2: 37,784,191–37,844,896, forward strandADGRA2BRF2: 37,843,268–37,849,911, reverse strandBRF2RAB11FIP1: 37,858,618–37,899,513, reverse strandRAB11FIP1GOT1L1: 37,934,281–37,940,162, reverse strandGOT1L1: 37,934,340–37,965,953, reverse strandADRB3: 37,962,990–37,966,614, reverse strandADRB3EIF4EBP1: 38,030,494–38,060,380, forward strandEIF4EBP1ASH2L: 38,105,493–38,144,124, forward strandASH2LSTAR: 38,138,571–38,151,102, reverse strandSTARLSM1: 38,161,436–38,176,730, reverse strandLSM1BAG4: 38,176,533–38,215,427, forward strandBAG4DDHD2: 38,225,218–38,283,357, forward strandDDHD2Diagram of ERLIN2: 12 exons on the forward strand of chromosome 8Exon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 1: 37,736,634–37,736,678, 45 basesExon 2: 37,737,908–37,738,029, 122 basesExon 3: 37,740,365–37,740,446, 82 basesExon 4: 37,741,772–37,741,818, 47 basesExon 5: 37,744,355–37,744,416, 62 basesExon 6: 37,744,571–37,744,696, 126 basesExon 7: 37,749,559–37,749,632, 74 basesExon 8: 37,749,794–37,749,852, 59 basesExon 9: 37,750,395–37,750,486, 92 basesExon 10: 37,751,626–37,751,715, 90 basesExon 11: 37,753,450–37,753,529, 80 basesExon 12: 37,753,915–37,758,422, 4,508 bases1246810125′3′

    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 5.4 kb of the gene's 21.8 kb; 1,020 of those bases code for the protein.

    How a genome test reads ERLIN2

    15

    positions in ERLIN2 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 21.8 kb of ERLIN2, introns included, not only the 5.4 kb of exons.

    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

    APA

    Dante Labs. (n.d.). ERLIN2 gene: ER lipid raft associated 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/erlin2

    Vancouver

    Dante Labs. ERLIN2 gene: ER lipid raft associated 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/erlin2

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