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Gene

TMEM67

transmembrane protein 67

Summary

Cytogenetic location
8q22.1
Coordinates
Chromosome 8: 93,754,894–93,818,121 (GRCh38)
Exons
28 exons across 63.2 kb
Protein
995 amino acids
Inheritance
Autosomal recessive
Also known as
MGC26979, JBTS6, NPHP11
Previous symbols
MKS3
MANE Select transcript
ENST00000453321.8NM_153704.6
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.

      • 1 GenCC submitter rates 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

  • Meckel Syndrome

    • Autosomal recessive

      A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

      • 1 GenCC submitter rates it definitive or strong

  • Nephronophthisis and Senior-Løken Syndrome

    • NephronophthisisAutosomal recessive

      A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.

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

      Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.

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.

      • 1 GenCC submitter rates 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 TMEM67 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where TMEM67 sits. TMEM67 and 5 genes near it on chromosome 8, from 93,286,508 to 94,286,507.Chromosome 88q22.1p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.393.4 Mb93.6 Mb93.8 Mb94 Mb94.2 MbCIBAR1: 93,698,561–93,732,882, forward strandCIBAR1RBM12B: 93,728,155–93,741,098, reverse strandRBM12BTMEM67: 93,754,894–93,818,121, forward strandTMEM67PDP1: 93,857,788–93,926,068, forward strandPDP1CDH17: 94,124,381–94,217,303, reverse strandCDH17GEM: 94,249,249–94,262,461, reverse strandGEMDiagram of TMEM67: 28 exons on the forward strand of chromosome 8Exon 1: 7 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 9 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 17: 6 known disease-causing sitesExon 18: 8 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 20: 10 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 23: 10 known disease-causing sitesExon 24: 6 known disease-causing sitesExon 25: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 27: 4 known disease-causing sitesExon 28: 1 known disease-causing siteExon 1: 93,754,894–93,755,137, 244 basesExon 2: 93,755,778–93,755,866, 89 basesExon 3: 93,758,483–93,758,576, 94 basesExon 4: 93,763,842–93,763,941, 100 basesExon 5: 93,765,406–93,765,475, 70 basesExon 6: 93,765,572–93,765,646, 75 basesExon 7: 93,772,589–93,772,651, 63 basesExon 8: 93,780,593–93,780,747, 155 basesExon 9: 93,780,874–93,780,982, 109 basesExon 10: 93,781,658–93,781,744, 87 basesExon 11: 93,782,395–93,782,460, 66 basesExon 12: 93,785,222–93,785,378, 157 basesExon 13: 93,786,223–93,786,346, 124 basesExon 14: 93,787,844–93,787,949, 106 basesExon 15: 93,791,263–93,791,319, 57 basesExon 16: 93,793,198–93,793,296, 99 basesExon 17: 93,795,409–93,795,507, 99 basesExon 18: 93,795,901–93,795,987, 87 basesExon 19: 93,797,134–93,797,233, 100 basesExon 20: 93,797,331–93,797,470, 140 basesExon 21: 93,799,618–93,799,758, 141 basesExon 22: 93,803,604–93,803,684, 81 basesExon 23: 93,804,762–93,804,878, 117 basesExon 24: 93,808,840–93,808,956, 117 basesExon 25: 93,809,057–93,809,161, 105 basesExon 26: 93,809,785–93,809,887, 103 basesExon 27: 93,815,305–93,815,447, 143 basesExon 28: 93,816,372–93,818,121, 1,750 bases1510152025285′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 4.7 kb of the gene's 63.2 kb; 2,988 of those bases code for the protein.

How a genome test reads TMEM67

210

positions in TMEM67 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 63.2 kb of TMEM67, introns included, not only the 4.7 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.). TMEM67 gene: transmembrane protein 67. Retrieved 16 October 2026, from https://dantelabs.com/genes/tmem67

Vancouver

Dante Labs. TMEM67 gene: transmembrane protein 67 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tmem67

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