MEIOC
protein-codingmeiosis specific with coiled-coil domain
Gene summary
Predicted to be involved in several processes, including germ cell development; germline cell cycle switching, mitotic to meiotic cell cycle; and meiosis I. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
- C17orf104
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~33.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MEIOC variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001145080.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 4 | 1 | 1 | 6 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 7 | 1 | 1 | 9 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001138552.2 | 8 | MANE Select | |
| Ensembl | ENSP00000386452.1 | 8 | MANE Select | |
| Ensembl | ENSP00000386586.1 | 2 | Standard | |
| Ensembl | ENSP00000404941.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- double-strand break repair
- synaptonemal complex assembly
- male meiosis I
- female meiosis I
- spermatid development
Cellular Component
- nucleus
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000409122
- Coding exons
- 8
- Length
- 33915
- Individuals with no LoFs
- 0
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 0
- Defined
- 0
- p
- 0.00
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.83 | 362 | 474 | 0.764 | 0.0000231 | 6263 |
| Missense (PolyPhen) | 79 | 138.52 | 0.57032 | 2014 | ||
| Synonymous | 2.18 | 133 | 169 | 0.787 | 0.00000818 | 1776 |
| Loss of Function | 5.50 | 0 | 35.3 | 0.00 | 0.00000171 | 507 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Is required for meiosis completion in both male and female germ cells. Confers stability to numerous meiotic mRNAs in gonads allowing proper initiation and progression into meiosis prophase I. The function may involve YTHDC2 and is independent of induction by retinoic acid (RA). Maintains an extended meiotic prophase I by properly promoting the transition from a mitotic to a meiotic cell cycle program by binding transcripts through its interaction with YTHDC2 that regulate the mitotic cell cycle. {ECO:0000250|UniProtKB:A2AG06}.;
Intolerance Scores
- RVIS EVS
- 0.64
- RVIS percentile EVS
- 84.05
Essentials
- Essential (gene trap)
- N