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Gene

ISCA2

iron-sulfur cluster assembly 2

Summary

Cytogenetic location
14q24.3
Coordinates
Chromosome 14: 74,493,765–74,497,106 (GRCh38)
Exons
4 exons across 3.3 kb
Protein
154 amino acids
Also known as
ISA2
Previous symbols
HBLD1
MANE Select transcript
ENST00000556816.6NM_194279.4
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

    • 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.

        • 3 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 ISCA2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 14, with a bracket where ISCA2 sits. ISCA2 and 17 genes near it on chromosome 14, from 73,995,436 to 74,995,435.Chromosome 1414q24.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3374 Mb74.2 Mb74.4 Mb74.6 Mb74.8 MbENTPD5: 73,956,688–74,019,399, reverse strandENTPD5BBOF1: 74,019,341–74,082,863, forward strandBBOF1ALDH6A1: 74,055,997–74,084,492, reverse strandALDH6A1LIN52: 74,084,943–74,201,493, forward strandLIN52VSX2: 74,239,449–74,262,738, forward strandVSX2ABCD4: 74,285,269–74,303,068, reverse strandABCD4VRTN: 74,303,069–74,360,011, forward strandVRTNSYNDIG1L: 74,405,894–74,426,325, reverse strandSYNDIG1LNPC2: 74,427,119–74,494,177, reverse strandNPC2ISCA2: 74,493,765–74,497,106, forward strandISCA2LTBP2: 74,498,163–74,612,378, reverse strandLTBP2AREL1: 74,653,437–74,713,117, reverse strandAREL1FCF1: 74,713,144–74,750,706, forward strandFCF1YLPM1: 74,763,289–74,859,435, forward strandYLPM1PROX2: 74,852,871–74,876,154, reverse strandPROX2DLST: 74,881,891–74,903,966, forward strandDLSTRPS6KL1: 74,903,951–74,923,308, reverse strandRPS6KL1PGF: 74,940,965–74,955,626, reverse strandPGFDiagram of ISCA2: 4 exons on the forward strand of chromosome 14Exon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 1: 74,493,765–74,493,845, 81 basesExon 2: 74,494,050–74,494,152, 103 basesExon 3: 74,494,275–74,494,390, 116 basesExon 4: 74,494,826–74,497,106, 2,281 bases12345′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 2.6 kb of the gene's 3.3 kb; 465 of those bases code for the protein.

    How a genome test reads ISCA2

    4

    positions in ISCA2 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 3.3 kb of ISCA2, introns included, not only the 2.6 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.). ISCA2 gene: iron-sulfur cluster assembly 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/isca2

    Vancouver

    Dante Labs. ISCA2 gene: iron-sulfur cluster assembly 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/isca2

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