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Gene

GCM2

GCM transcription factor 2

Summary

Cytogenetic location
6p24.2
Coordinates
Chromosome 6: 10,873,223–10,882,041 (GRCh38)
Exons
5 exons across 8.8 kb
Protein
506 amino acids
Inheritance
Autosomal dominant
Also known as
hGCMb
Previous symbols
GCMB
MANE Select transcript
ENST00000379491.5NM_004752.4
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 reports relevant to this gene

  • Inherited Parathyroid & Calcium-Sensing Disorders

    • Familial isolated hyperparathyroidismAutosomal dominant

      Overactive parathyroid glands running in families without other endocrine tumours.

      • 1 GenCC submitter rates it definitive or strong
    • Familial hypoparathyroidism

      Low parathyroid hormone and low blood calcium, including autosomal dominant hypocalcaemia caused by overactive calcium sensing.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      In autosomal dominant hypocalcaemia, standard calcium and vitamin D treatment can worsen kidney calcium loss, so treatment needs specialist adjustment.

  • Thyroid Cancer

    • Parathyroid Gland Disorder

      A disease involving the parathyroid gland.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GCM2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where GCM2 sits. GCM2 and 14 genes near it on chromosome 6, from 10,377,632 to 11,377,631.Chromosome 66p24.2p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2710.4 Mb10.6 Mb10.8 Mb11 Mb11.2 MbTFAP2A: 10,393,186–10,419,659, reverse strandTFAP2AGCNT2: 10,492,223–10,629,377, forward strandGCNT2C6orf52: 10,671,283–10,694,797, reverse strandC6orf52PAK1IP1: 10,694,633–10,711,168, forward strandPAK1IP1TMEM14C: 10,722,915–10,731,141, forward strandTMEM14CTMEM14B: 10,747,695–10,866,590, forward strandTMEM14B: 10,747,794–10,930,423, forward strandMAK: 10,762,723–10,838,553, reverse strandMAKGCM2: 10,873,223–10,882,041, reverse strandGCM2SYCP2L: 10,886,831–10,979,320, forward strandSYCP2LELOVL2: 10,980,742–11,044,446, reverse strandELOVL2SMIM13: 11,093,820–11,138,733, forward strandSMIM13KANGD1: 11,093,834–11,138,733, forward strandKANGD1ERVFRD-1: 11,102,324–11,111,845, reverse strandERVFRD-1NEDD9: 11,181,524–11,382,348, reverse strandNEDD9Diagram of GCM2: 5 exons on the reverse strand of chromosome 6Exon 5: 7 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 3 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 5: 10,873,223–10,874,933, 1,711 basesExon 4: 10,875,891–10,876,016, 126 basesExon 3: 10,876,445–10,876,557, 113 basesExon 2: 10,877,140–10,877,392, 253 basesExon 1: 10,881,704–10,882,041, 338 bases543215′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 8.8 kb; 1,521 of those bases code for the protein.

How a genome test reads GCM2

14

positions in GCM2 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 8.8 kb of GCM2, 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.). GCM2 gene: GCM transcription factor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/gcm2

Vancouver

Dante Labs. GCM2 gene: GCM transcription factor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gcm2

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