Gene
SDHAF2
succinate dehydrogenase complex assembly factor 2
- HGNC 26034(opens in a new tab)
- Ensembl gene ENSG00000167985(opens in a new tab)
- NCBI Gene 54949(opens in a new tab)
Summary
- Cytogenetic location
- 11q12.2
- Coordinates
- Chromosome 11: 61,430,124–61,446,733 (GRCh38)
- Exons
- 4 exons across 16.6 kb
- Protein
- 166 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FLJ20487, SDH5
- Previous symbols
- PGL2, C11orf79
- MANE Select transcript
- ENST00000301761.7NM_017841.4
- 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.
Read SDHAF2, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Hereditary Pheochromocytoma and Paraganglioma
- Hereditary pheochromocytoma-paragangliomaAutosomal dominant
A group of syndromes (PPGL types 1-7, TMEM127- and MAX-related) in which variants in SDHB, SDHD, SDHC, SDHA, SDHAF2, MAX or TMEM127 raise the risk of pheochromocytoma and paraganglioma.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Regular blood or urine metanephrine testing and periodic whole-body MRI help find tumours early, before they cause blood-pressure crises; relatives can be offered testing.
Malignant Endocrine Neoplasm
A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.
- 2 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
Urinary and Renal System Tumour
- Urinary System Neoplasm
A benign or malignant, primary or metastatic neoplasm involving the urinary system.
- 2 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How SDHAF2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
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 1.2 kb of the gene's 16.6 kb; 501 of those bases code for the protein.
How a genome test reads SDHAF2
59
positions in SDHAF2 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 16.6 kb of SDHAF2, introns included, not only the 1.2 kb of exons.
Variants with a page (14)
The SDHAF2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.37-1G>C | Intron 1 | 61,437,624 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.260+1G>A | Intron 2 | 61,437,849 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.371-2A>G | Intron 3 | 61,445,939 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| F89Lfs*9 | c.267del | Exon 3 | 61,438,005 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G78R | c.232G>A | Exon 2 | 61,437,820 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N103Efs*4 | c.305_306insA | Exon 3 | 61,438,048 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q56X | c.166C>T | Exon 2 | 61,437,754 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R77Gfs*10 | c.229_230del | Exon 2 | 61,437,814 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S4Lfs*31 | c.9_19del | Exon 1 | 61,430,152 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S8X | c.23C>A | Exon 1 | 61,430,169 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to SDHAF2
The Human Phenotype Ontology lists these as features of the rare conditions SDHAF2 can cause. Each trait's page lists the other genes linked to it.
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.
- 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
Dante Labs. (n.d.). SDHAF2 gene: succinate dehydrogenase complex assembly factor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/sdhaf2
Dante Labs. SDHAF2 gene: succinate dehydrogenase complex assembly factor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sdhaf2
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks