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Gene

TBC1D8B

TBC1 domain family member 8B

Summary

Cytogenetic location
Xq22.3
Coordinates
Chromosome X: 106,802,673–106,876,150 (GRCh38)
Exons
21 exons across 73.5 kb
Protein
1,120 amino acids
Also known as
FLJ20298, RP11-321G1.1, GRAMD8B
MANE Select transcript
ENST00000357242.10NM_017752.3
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 report relevant to this gene

  • Nephrotic Syndrome

    • Nephrosis

      Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong

How TBC1D8B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where TBC1D8B sits. TBC1D8B and 8 genes near it on chromosome X, from 106,339,412 to 107,339,411.Chromosome XXq22.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28106.4 Mb106.6 Mb106.8 Mb107 Mb107.2 MbRADX: 106,611,930–106,679,439, forward strandRADXRNF128: 106,693,739–106,797,016, forward strandRNF128TBC1D8B: 106,802,673–106,876,150, forward strandTBC1D8BMORC4: 106,813,871–107,000,260, reverse strandMORC4CLDN2: 106,892,766–106,930,862, forward strandCLDN2RIPPLY1: 106,900,063–106,903,364, reverse strandRIPPLY1RBM41: 107,052,095–107,118,859, reverse strandRBM41NUP62CL: 107,122,726–107,245,108, reverse strandNUP62CLDNAAF6: 107,206,606–107,244,247, forward strandDNAAF6Diagram of TBC1D8B: 21 exons on the forward strand of chromosome XExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 1: 106,802,673–106,802,983, 311 basesExon 2: 106,818,663–106,818,773, 111 basesExon 3: 106,820,877–106,820,995, 119 basesExon 4: 106,821,977–106,822,202, 226 basesExon 5: 106,823,226–106,823,466, 241 basesExon 6: 106,826,030–106,826,237, 208 basesExon 7: 106,827,170–106,827,337, 168 basesExon 8: 106,839,308–106,839,457, 150 basesExon 9: 106,840,048–106,840,198, 151 basesExon 10: 106,840,670–106,840,884, 215 basesExon 11: 106,848,186–106,848,303, 118 basesExon 12: 106,850,025–106,850,310, 286 basesExon 13: 106,853,521–106,853,650, 130 basesExon 14: 106,854,198–106,854,296, 99 basesExon 15: 106,865,559–106,865,627, 69 basesExon 16: 106,865,793–106,866,033, 241 basesExon 17: 106,866,797–106,866,862, 66 basesExon 18: 106,868,393–106,868,476, 84 basesExon 19: 106,869,485–106,869,541, 57 basesExon 20: 106,870,716–106,870,813, 98 basesExon 21: 106,873,570–106,876,150, 2,581 bases15101520215′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 5.7 kb of the gene's 73.5 kb; 3,363 of those bases code for the protein.

How a genome test reads TBC1D8B

8

positions in TBC1D8B 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 73.5 kb of TBC1D8B, introns included, not only the 5.7 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.). TBC1D8B gene: TBC1 domain family member 8B. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbc1d8b

Vancouver

Dante Labs. TBC1D8B gene: TBC1 domain family member 8B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbc1d8b

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