GeneBe

RCVRN

recoverin, the group of EF-hand domain containing

Basic information

Region (hg38): 17:9896320-9905271

Previous symbols: [ "RCV1" ]

Links

ENSG00000109047 ∙ NCBI:5957 ∙ OMIM:179618 ∙ HGNC:9937 ∙ Uniprot:P35243 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RCVRN gene.

  • not_specified (17 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RCVRN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002903.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
17
clinvar
1
clinvar
 18
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 17 0 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RCVRNprotein_codingprotein_codingENST00000226193 39302
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.71e-90.03461256940541257480.000215
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2541141220.9350.000007471334
Missense in Polyphen5458.5420.92241626
Synonymous-0.1185957.91.020.00000461359
Loss of Function-0.760129.481.275.73e-792

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004530.000452
Ashkenazi Jewish0.000.00
East Asian0.0009850.000979
Finnish0.000.00
European (Non-Finnish)0.0001510.000149
Middle Eastern0.0009850.000979
South Asian0.0002000.000196
Other0.0005030.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse.;
Pathway
Phototransduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;visual signal transduction;G alpha (i) signalling events;Inactivation, recovery and regulation of the phototransduction cascade;The phototransduction cascade;Visual phototransduction;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.321

Intolerance Scores

loftool
0.682
rvis_EVS
0.3
rvis_percentile_EVS
72.01

Haploinsufficiency Scores

pHI
0.163
hipred
N
hipred_score
0.335
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.801

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rcvrn
Phenotype
vision/eye phenotype;

Zebrafish Information Network

Gene name
rcvrn3
Affected structure
cone photoresponse recovery
Phenotype tag
abnormal
Phenotype quality
increased efficacy

Gene ontology

Biological process
signal transduction;visual perception;phototransduction;positive regulation of guanylate cyclase activity;regulation of calcium ion transport
Cellular component
dendrite
Molecular function
calcium ion binding;calcium sensitive guanylate cyclase activator activity