Gene
TLCD3B
TLC domain containing 3B
- HGNC 25295↗(opens in a new tab)
- Ensembl gene ENSG00000149926↗(opens in a new tab)
- NCBI Gene 83723↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p11.2
- Coordinates
- Chromosome 16: 30,024,427–30,031,271 (GRCh38)
- Exons
- 5 exons across 6.8 kb
- Protein
- 274 amino acids
- Also known as
- DKFZP434I2117
- Previous symbols
- FAM57B
- MANE Select transcript
- ENST00000380495.9NM_031478.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TLCD3B yet. The test sequences your whole genome, so your data includes it all the same.
How TLCD3B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.3 kb of the gene's 6.8 kb; 825 of those bases code for the protein.
How a genome test reads TLCD3B
1
position in TLCD3B 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 6.8 kb of TLCD3B, introns included, not only the 2.3 kb of exons.
Traits linked to TLCD3B
The Human Phenotype Ontology lists these as features of the rare conditions TLCD3B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Decreased clarity of vision
- Abnormal retinal pigmentation
- Difficulties with night vision
- Extreme sensitivity of the eyes to light
- Abnormal color vision
- Abnormal full-field electroretinogram
- Blind spot located at fixation point
- Color blindness
Show 14 more traits
- Hypoautofluorescent retinal lesion
- Optic disc pallor
- Progressive loss of vision
- Retinal atrophy
- Spicular pigmentation of the retina
- Absent foveal reflex
- Bull's eye maculopathy
- Hyperautofluorescent macular lesion
- Involuntary, rapid, rhythmic eye movements
- Metamorphopsia
- Perifoveal ring of hyperautofluorescence
- Retinal pigment epithelial atrophy
- Undetectable pattern electroretinogram
- Visual impairment
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). TLCD3B gene: TLC domain containing 3B. Retrieved 17 October 2026, from https://dantelabs.com/genes/tlcd3b
Dante Labs. TLCD3B gene: TLC domain containing 3B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tlcd3b
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