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Gene

RUSC2

RUN and SH3 domain containing 2

Summary

Cytogenetic location
9p13.3
Coordinates
Chromosome 9: 35,490,111–35,561,895 (GRCh38)
Exons
12 exons across 71.8 kb
Protein
1,516 amino acids
Also known as
KIAA0375
MANE Select transcript
ENST00000361226.8NM_014806.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

        • ClinGen rates the link moderate
        • 1 GenCC submitter rates it definitive or strong

    How RUSC2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 9, with a bracket where RUSC2 sits. RUSC2 and 33 genes near it on chromosome 9, from 35,026,003 to 36,026,002.Chromosome 99p13.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.335.2 Mb35.4 Mb35.6 Mb35.8 Mb36 MbSPATA31G1: 35,041,095–35,045,986, forward strandVCP: 35,053,928–35,072,725, reverse strand: 35,065,339–35,074,175, reverse strandFANCG: 35,073,793–35,082,444, reverse strandFANCGPIGO: 35,085,492–35,096,632, reverse strandPIGOSTOML2: 35,099,469–35,103,195, reverse strandSTOML2ATOSB: 35,104,112–35,116,357, reverse strandATOSBUNC13B: 35,161,829–35,405,339, forward strandUNC13BRUSC2: 35,490,111–35,561,895, forward strandRUSC2CIMIP2B: 35,561,831–35,563,914, reverse strandCIMIP2BTESK1: 35,605,235–35,610,328, forward strandTESK1CD72: 35,609,965–35,646,810, reverse strandCD72SIT1: 35,649,288–35,650,970, reverse strandSIT1RMRP: 35,657,750–35,658,019, reverse strandRMRPCCDC107: 35,658,277–35,661,524, forward strandCCDC107ARHGEF39: 35,658,874–35,675,866, reverse strandCA9: 35,673,898–35,681,159, forward strandTPM2: 35,681,992–35,691,116, reverse strandTLN1: 35,696,925–35,732,212, reverse strandTLN1CREB3: 35,732,296–35,738,887, forward strandCREB3GBA2: 35,734,577–35,749,986, reverse strandGBA2RGP1: 35,748,613–35,759,600, forward strandRGP1MSMP: 35,752,990–35,756,613, reverse strandNPR2: 35,791,003–35,809,732, forward strandNPR2SPAG8: 35,808,045–35,812,272, reverse strandSPAG8HINT2: 35,812,960–35,815,354, reverse strandHINT2: 35,812,960–35,828,732, reverse strandTMEM8B: 35,814,451–35,865,518, forward strandFAM221B: 35,816,391–35,828,747, reverse strandOR13J1: 35,869,463–35,870,401, reverse strandOR13J1HRCT1: 35,906,202–35,907,136, forward strandHRCT1SPAAR: 35,909,488–35,937,153, forward strandSPAAROR2S2: 35,957,108–35,958,154, reverse strandOR2S2OR13C7: 36,002,909–36,003,867, reverse strandOR13C7Diagram of RUSC2: 12 exons on the forward strand of chromosome 9Exon 4: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 1: 35,490,111–35,490,172, 62 basesExon 2: 35,546,430–35,548,535, 2,106 basesExon 3: 35,555,060–35,555,701, 642 basesExon 4: 35,555,952–35,556,137, 186 basesExon 5: 35,556,308–35,556,448, 141 basesExon 6: 35,557,914–35,557,990, 77 basesExon 7: 35,558,197–35,558,371, 175 basesExon 8: 35,558,462–35,558,567, 106 basesExon 9: 35,559,226–35,559,272, 47 basesExon 10: 35,560,029–35,560,851, 823 basesExon 11: 35,560,960–35,561,097, 138 basesExon 12: 35,561,181–35,561,895, 715 bases1125′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 5.2 kb of the gene's 71.8 kb; 4,551 of those bases code for the protein.

    Sequencing RUSC2

    3Easy

    How hard RUSC2 is to sequence with short reads, out of 100

    Almost all of RUSC2's exons sit where short reads map cleanly.

    What adds to it: the share of RUSC2's exons in each kind of hard region

    • Mappability0%
    • Homology0%
    • Repeats3.2%
    • GC content25%
    • Reference coverage0%

    A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scored

    3

    positions in RUSC2 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 71.8 kb of RUSC2, introns included, not only the 5.2 kb of exons.

    ClinVar pathogenic variants (3)

    The RUSC2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

    • Pathogenic 2
    • Likely pathogenic 1
    VariantConditionsClinVar classificationReview status
    NM_014806.5(RUSC2):c.4177C>T (p.Arg1393Ter) (opens in a new tab)intellectual disability, autosomal recessive 61Pathogenic1 star out of 4 criteria provided, single submitter
    NM_014806.5(RUSC2):c.4227G>A (p.Trp1409Ter) (opens in a new tab)intellectual disability, autosomal recessive 61Pathogenic1 star out of 4 criteria provided, single submitter
    NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) (opens in a new tab)intellectual disability, autosomal recessive 61Likely pathogenic1 star out of 4 criteria provided, single submitter

    Genes linked to the same conditions

    Traits linked to RUSC2

    The Human Phenotype Ontology lists these as features of the rare conditions RUSC2 can cause. Each trait's page lists the other genes linked to it.

    External links

    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 2026-10-18: 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 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 2026.10.18-8b139e39.

    Cite this page

    APA

    Dante Labs. (n.d.). RUSC2 gene: RUN and SH3 domain containing 2. Retrieved 18 October 2026, from https://dantelabs.com/genes/rusc2

    Vancouver

    Dante Labs. RUSC2 gene: RUN and SH3 domain containing 2 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/rusc2

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