PADI6
protein-codingpeptidyl arginine deiminase 6, the group of Peptidyl arginine deiminases
Gene summary
This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~29.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0014978
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0014978
Submitter: PanelApp Australia
Inheritance Pattern: AR
Disease ID:MONDO:0014978
Submitter: Ambry Genetics
Inheritance Pattern: AR
Disease ID:MONDO:0014978
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Obstetric
Intervention: Obstetric
Rationale: Genetic knowledge may be beneficial to allow reproductive-related interventions
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PADI6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_207421.4. 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 | 26 | 1 | 27 | |||
| missense | 3 | 6 | 67 | 11 | 1 | 88 |
| nonsense | 2 | 3 | 1 | 6 | ||
| start loss | 0 | |||||
| frameshift | 8 | 5 | 1 | 14 | ||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 13 | 15 | 69 | 37 | 2 | 136 |
Highest pathogenic variant AF is 0.000060110007
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_997304.3 | 16 | MANE Select | |
| Ensembl | ENSP00000483125.1 | 16 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Preimplantation Embryo
- Chromatin modifying enzymes
- Chromatin organization
- protein citrullination
Biological Process
- cytoskeleton organization
- cytoplasm organization
- histone citrullination
- regulation of translation by machinery localization
Molecular Function
- protein-arginine deiminase activity
- calcium ion binding
Cellular Component
- nucleus
- cytoplasm
- intermediate filament cytoskeleton
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678). {ECO:0000250, ECO:0000269|PubMed:27545678}.;
- Disease
- DISEASE: Preimplantation embryonic lethality 2 (PREMBL2) [MIM:617234]: A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive. {ECO:0000269|PubMed:27545678}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.100