RPH3A
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RPH3A (HGNC:17056) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
rabphilin 3A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0985, rabphilin, exophilin-1
%HI
42.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.64(Read more about gnomAD LOEUF score)
Cytoband
12q24.13
Genomic Coordinates
GRCh37/hg19: chr12:113013040-113336686 NCBI Ensembl UCSC
GRCh38/hg38: chr12:112575236-112898881 NCBI Ensembl UCSC
MANE Select Transcript
NM_001143854.2 ENST00000389385.9 (Read more about MANE Select)
Function
Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP- dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Also plays a role in the exocytosis of arginine vasopressin hor... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2209
ClinGen Curation ID:
CCID:007781
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/25/2018

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 28263302
    Yuen et al. 2017 - WGS study of families with autism identified 1 instance of a de novo nonsense mutation.
  • PUBMED: 22083728
    Kirov et al. 2012 - study of copy number variants in patients with schizophrenia which found a patient with a likely loss of function de novo deletion of 3 exons in RPH3A.
HI Evidence Comments:
Two separate reports of loss of function mutations, but in patients with varying phenotypes. Missense mutations have been reported in patients with cognitive and/or behavioral phenotypes as well. Bowling et al. 2017 (PMID 28554332) found a de novo VUS in RPH3A in a patient with intellectual disability, speech delay, hypotonia and seizures. Iossifov et al. 2014 (PMID 25363768) identified a missense mutation in RPH3A in a patient with autism. In addition, potential biallelic loss of function mutations in RPH3A were identified by Maselli et al. 2018 (PMID 29441694) in a patient with learning disabilities, tremors, ataxia, transient hyperglycemia and muscle fatigability. Parents were apparently unaffected.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)