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Gene

MAB21L2

mab-21 like 2

Summary

Cytogenetic location
4q31.3
Coordinates
Chromosome 4: 150,582,151–150,584,693 (GRCh38)
Exons
1 exon across 2.5 kb
Protein
359 amino acids
MANE Select transcript
ENST00000317605.6NM_006439.5
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

  • Microphthalmia, Anophthalmia & Coloboma

    • Syndromic Microphthalmia

      Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.

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

      A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.

How MAB21L2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 4, with a bracket where MAB21L2 sits. MAB21L2 and 2 genes near it on chromosome 4, from 150,083,422 to 151,083,421.Chromosome 44q31.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2150.2 Mb150.4 Mb150.6 Mb150.8 Mb151 MbDCLK2: 150,078,084–150,257,457, forward strandDCLK2LRBA: 150,264,430–151,015,755, reverse strandLRBAMAB21L2: 150,582,151–150,584,693, forward strandMAB21L2Diagram of MAB21L2: one exon on the forward strand of chromosome 4Exon 1: 7 known disease-causing sitesExon 1: 150,582,151–150,584,693, 2,543 bases15′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 2.5 kb of the gene's 2.5 kb; 1,080 of those bases code for the protein.

How a genome test reads MAB21L2

7

positions in MAB21L2 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 2.5 kb of MAB21L2, introns included, not only the 2.5 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.). MAB21L2 gene: mab-21 like 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/mab21l2

Vancouver

Dante Labs. MAB21L2 gene: mab-21 like 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mab21l2

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