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Gene

TMEM38B

transmembrane protein 38B

Summary

Cytogenetic location
9q31.2
Coordinates
Chromosome 9: 105,694,541–105,776,629 (GRCh38)
Exons
6 exons across 82.1 kb
Protein
291 amino acids
Also known as
FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B
Previous symbols
C9orf87
MANE Select transcript
ENST00000374692.8NM_018112.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

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

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How TMEM38B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where TMEM38B sits. TMEM38B and 4 genes near it on chromosome 9, from 105,235,585 to 106,235,584.Chromosome 99q31.2p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3105.4 Mb105.6 Mb105.8 Mb106 Mb106.2 MbSLC44A1: 105,244,519–105,439,873, forward strandSLC44A1FSD1L: 105,447,796–105,552,433, forward strandFSD1LFKTN: 105,558,122–105,653,820, forward strandFKTNTAL2: 105,656,229–105,665,420, forward strandTAL2TMEM38B: 105,694,541–105,776,629, forward strandTMEM38BDiagram of TMEM38B: 6 exons on the forward strand of chromosome 9Exon 1: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 1: 105,694,541–105,694,772, 232 basesExon 2: 105,705,597–105,705,753, 157 basesExon 3: 105,721,537–105,721,721, 185 basesExon 4: 105,722,534–105,722,621, 88 basesExon 5: 105,748,073–105,748,190, 118 basesExon 6: 105,773,865–105,776,629, 2,765 bases12465′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 3.5 kb of the gene's 82.1 kb; 876 of those bases code for the protein.

How a genome test reads TMEM38B

8

positions in TMEM38B 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 82.1 kb of TMEM38B, introns included, not only the 3.5 kb of exons.

Genes linked to the same conditions

Traits linked to TMEM38B

The Human Phenotype Ontology lists these as features of the rare conditions TMEM38B can cause. Each trait's page lists the other genes linked to it.

External links

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.). TMEM38B gene: transmembrane protein 38B. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmem38b

Vancouver

Dante Labs. TMEM38B gene: transmembrane protein 38B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmem38b

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