Information on C2orf69
Basic details
Alt. symbols: FLJ38973
Approved name: chromosome 2 open reading frame 69
Alt. names: hypothetical protein FLJ38973
Location: 2q33.1: 199911293 - 199955935 (+)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: 0.144000 | pLI: 0.43217154 | LOEUF: 0.805
Normal function
C2ORF69 encodes a mitochondrial protein that is thought to play a role in respiratory chain function (PMID: 33945503).
Dysfunction and disease
Biallelic LOF mutations in the uncharacterized C2ORF69 gene were found in patients with an AR disorder characterized by mitochondrial dysfunction with CNS abnormalities on imaging including brain atrophy, leukoencephalopathy and other structural abnormalities, progressive microcephaly, liver dysfunction, and recurrent autoinflammation [OMIM: 619423] (PMID: 33945503, 34038740). In addition to early onset muscle hypotonia, developmental delays, failure to thrive, recurrent seizures, and impaired v ision, many showed inflammatory arthritis or osteomyelitis and hematologic abnormalities such as anemia, and some had cardiac abnormalities. Labs may show elevated inflammatory markers, leukocytosis and thrombocytosis, while muscle biopsy can be notable for diastase-resistant PAS+ glycogen accumulation reminiscent of polyglucosan body disease. Of the 20 total affected children identified by Lausberg et al. (2021) and Wong et al. (2021), 12 were confirmed to have inherited homozygous damaging C2orf69 variants, while eight others passed away prior to molecular genetic testing (PMID: 33945503, 34038740). [Load More]
[Reviewed by Xiao P. Peng on 2022-06-22 07:01:02]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
COXPD53 |
Combined oxidative phosphorylation deficiency 53 | AR |
619423 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of C2orf69
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000319974.6 | CCDS46482 | Select | protein_coding | 2 | Yes | 3691 | NM_153689 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in C2orf69
| ID | Year | Title | Journal | PMID | Variants |
|---|