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Gene

MBD5

methyl-CpG binding domain protein 5

Summary

Cytogenetic location
2q23.1
Coordinates
Chromosome 2: 148,021,091–148,516,971 (GRCh38)
Exons
14 exons across 495.9 kb
Protein
1,727 amino acids
Also known as
FLJ11113, KIAA1461
MANE Select transcript
ENST00000642680.2NM_001378120.1
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

    How MBD5 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 2, with a bracket where MBD5 sits. MBD5 and 4 genes near it on chromosome 2, from 147,525,210 to 149,012,852.Chromosome 22q23.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3147.6 Mb147.8 Mb148 Mb148.2 Mb148.4 Mb148.6 Mb148.8 Mb149 MbACVR2A: 147,844,378–147,930,838, forward strandACVR2AORC4: 147,930,396–148,021,784, reverse strandORC4MBD5: 148,021,091–148,516,971, forward strandMBD5EPC2: 148,644,440–148,789,225, forward strandEPC2KIF5C: 148,875,227–149,026,759, forward strandKIF5CDiagram of MBD5: 14 exons on the forward strand of chromosome 2Exon 5: 6 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 40 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 11: 19 known disease-causing sitesExon 12: 1 known disease-causing siteExon 1: 148,021,091–148,021,684, 594 basesExon 2: 148,178,700–148,178,793, 94 basesExon 3: 148,233,245–148,233,395, 151 basesExon 4: 148,342,214–148,342,336, 123 basesExon 5: 148,458,203–148,458,871, 669 basesExon 6: 148,462,582–148,462,684, 103 basesExon 7: 148,463,739–148,463,919, 181 basesExon 8: 148,468,341–148,470,461, 2,121 basesExon 9: 148,483,110–148,484,135, 1,026 basesExon 10: 148,485,742–148,485,950, 209 basesExon 11: 148,489,386–148,490,594, 1,209 basesExon 12: 148,502,436–148,502,509, 74 basesExon 13: 148,510,060–148,510,135, 76 basesExon 14: 148,512,870–148,516,971, 4,102 bases1510145′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 10.7 kb of the gene's 495.9 kb; 5,184 of those bases code for the protein.

    How a genome test reads MBD5

    93

    positions in MBD5 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 495.9 kb of MBD5, introns included, not only the 10.7 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.). MBD5 gene: methyl-CpG binding domain protein 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/mbd5

    Vancouver

    Dante Labs. MBD5 gene: methyl-CpG binding domain protein 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mbd5

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