ARR3 (arrestin 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
407
Gene name Gene Name - the full gene name approved by the HGNC.
Arrestin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARR3
Synonyms (NCBI Gene) Gene synonyms aliases
ARRX, MYP26, cArr
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G protein, resulting in termination of the G protein-couple
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs1555941116 T>C Pathogenic Missense variant, coding sequence variant
rs1555941129 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT021808 hsa-miR-132-3p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001917 Component Photoreceptor inner segment IDA 23704327
GO:0001917 Component Photoreceptor inner segment IEA
GO:0002031 Process G protein-coupled receptor internalization IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
301770 710 ENSG00000120500
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P36575
Protein name Arrestin-C (Cone arrestin) (C-arrestin) (cArr) (Retinal cone arrestin-3) (X-arrestin)
Protein function May play a role in an as yet undefined retina-specific signal transduction. Could bind to photoactivated-phosphorylated red/green opsins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00339 Arrestin_N 14 → 171 Arrestin (or S-antigen), N-terminal domain Domain
PF02752 Arrestin_C 190 → 353 Arrestin (or S-antigen), C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Inner and outer segments, and the inner plexiform regions of the retina.
Sequence
Sequence length 388
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myopia myopia 26, x-linked, female-limited rs765658563, rs1555941129, rs1555941116 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-microphthalmia syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21318602
Color Vision Defects Associate 37268727
Hypoxia Associate 39796220
Hypoxia Brain Associate 39796220
Macular Degeneration Associate 33482870
Myopia Associate 27829781, 33482870, 35001458, 35567543, 37268727
Myopia 1 Associate 35001458
Osteosarcoma Associate 39796220
Progressive hearing loss stapes fixation Associate 27829781
Prostatic Neoplasms Associate 27474750