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Gene

TMEM216

transmembrane protein 216

Summary

Cytogenetic location
11q13.1
Coordinates
Chromosome 11: 61,392,587–61,398,846 (GRCh38)
Exons
5 exons across 6.3 kb
Protein
145 amino acids
Inheritance
Autosomal recessive
Also known as
MGC13379, HSPC244, JBTS2
Previous symbols
CORS2, MKS2
MANE Select transcript
ENST00000515837.7NM_001173990.3
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

  • Joubert Syndrome And Related Disorders

    • Autosomal recessive

      Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

      • 2 GenCC submitters rate it definitive or strong
    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • 2 GenCC submitters rate it definitive or strong

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How TMEM216 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where TMEM216 sits. TMEM216 and 28 genes near it on chromosome 11, from 60,895,717 to 61,895,716.Chromosome 1111q13.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2561 Mb61.2 Mb61.4 Mb61.6 Mb61.8 MbPRPF19: 60,890,547–60,906,607, reverse strandPRPF19TMEM109: 60,912,521–60,923,443, forward strandTMEM109TMEM132A: 60,924,453–60,937,159, forward strandTMEM132ASLC15A3: 60,937,060–60,952,653, reverse strandSLC15A3CD6: 60,971,651–61,020,377, forward strandCD6CD5: 61,102,466–61,127,952, forward strandCD5VPS37C: 61,111,002–61,167,355, reverse strandVPS37CPGA3: 61,203,307–61,213,098, forward strandPGA3PGA4: 61,222,347–61,231,694, forward strandPGA4PGA5: 61,241,175–61,251,444, forward strandPGA5VWCE: 61,255,672–61,295,553, reverse strandVWCEDDB1: 61,299,447–61,342,596, reverse strandDDB1TKFC: 61,333,205–61,354,339, forward strandTKFCCYB561A3: 61,348,453–61,362,343, reverse strandCYB561A3TMEM138: 61,361,964–61,377,890, forward strandTMEM138TMEM216: 61,392,587–61,398,846, forward strandTMEM216CPSF7: 61,402,641–61,430,105, reverse strandCPSF7: 61,429,220–61,485,822, forward strandSDHAF2: 61,430,032–61,473,614, forward strandSDHAF2SAXO4: 61,481,120–61,490,931, forward strandSAXO4LRRC10B: 61,508,749–61,511,018, forward strandLRRC10BSYT7: 61,513,714–61,581,201, reverse strandSYT7DAGLA: 61,680,151–61,747,003, forward strandDAGLAMYRF: 61,752,593–61,788,518, forward strandMYRFTMEM258: 61,768,455–61,792,802, reverse strandTMEM258FEN1: 61,792,725–61,797,238, forward strandFEN1FADS2: 61,792,980–61,867,354, forward strandFADS1: 61,799,624–61,829,318, reverse strandFADS1FADS3: 61,873,515–61,892,136, reverse strandFADS3Diagram of TMEM216: 5 exons on the forward strand of chromosome 11Exon 2: 10 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 1: 61,392,587–61,392,665, 79 basesExon 2: 61,393,231–61,393,332, 102 basesExon 3: 61,393,884–61,393,976, 93 basesExon 4: 61,397,774–61,397,975, 202 basesExon 5: 61,398,270–61,398,846, 577 bases123455′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 1.1 kb of the gene's 6.3 kb; 438 of those bases code for the protein.

How a genome test reads TMEM216

40

positions in TMEM216 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 6.3 kb of TMEM216, introns included, not only the 1.1 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.). TMEM216 gene: transmembrane protein 216. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmem216

Vancouver

Dante Labs. TMEM216 gene: transmembrane protein 216 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmem216

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