Gene
GDF6
growth differentiation factor 6
- HGNC 4221↗(opens in a new tab)
- Ensembl gene ENSG00000156466↗(opens in a new tab)
- NCBI Gene 392255↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q22.1
- Coordinates
- Chromosome 8: 96,142,333–96,160,806 (GRCh38)
- Exons
- 2 exons across 18.5 kb
- Protein
- 455 amino acids
- Also known as
- BMP13, KFS, KFS1
- Previous symbols
- SGM1
- MANE Select transcript
- ENST00000287020.7NM_001001557.4
- 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 GDF6 yet. The test sequences your whole genome, so your data includes it all the same.
How GDF6 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 3.7 kb of the gene's 18.5 kb; 1,368 of those bases code for the protein.
How a genome test reads GDF6
2
positions in GDF6 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 18.5 kb of GDF6, introns included, not only the 3.7 kb of exons.
Traits linked to GDF6
The Human Phenotype Ontology lists these as features of the rare conditions GDF6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Ultra-low vision with retained motion projection
- Abnormal optic disc morphology
- Abnormal retinal pigmentation
- Abnormally small eyeball
- Abnormally small eyeball on both sides
- Marked vision impairment
- Notched pupil
- Abnormal electroretinogram
Show 12 more traits
- Abnormal full-field electroretinogram
- Bulging cornea
- Clouding of the lens of the eye
- Extreme sensitivity of the eyes to light
- Farsightedness
- Involuntary, rapid, rhythmic eye movements
- Slow pupillary light response
- Optic disc drusen
- Optic disc pallor
- Hypoplasia of the fovea
- Optic disc hypoplasia
- Visual impairment
Abnormality of the musculoskeletal system
- Abnormal vertebral segmentation and fusion
- Abnormality of the vertebral column
- Cervical C2/C3 vertebral fusion
- Joint stiffness
- Abnormality of the ribs
- Abnormality of the shoulder
- Cone-shaped end part of bone
- High shoulder blade
Show 4 more traits
Abnormality of head or neck
- Facial asymmetry
- Limitation of neck motion
- Limited neck range of motion
- Low hairline at back of neck
- Short neck
- Webbed neck
- Abnormal temporal bone morphology
- Congenital muscular torticollis
Show 3 more traits
Abnormality of limbs
- Fused finger bones
- Short fingers or toes
- Short palm
- Bilateral single transverse palmar creases
- Broad thumb
- Postaxial polydactyly
- Abnormal shape of limb bone
- Broad foot
Show 3 more traits
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.). GDF6 gene: growth differentiation factor 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/gdf6
Dante Labs. GDF6 gene: growth differentiation factor 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gdf6
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