Gene Gene information from NCBI Gene database.
Entrez ID 114928
Gene name G protein-coupled receptor associated sorting protein 2
Gene symbol GPRASP2
Synonyms (NCBI Gene)
DFNX7GASP2
Chromosome X
Chromosome location Xq22.1
Summary The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine rece
miRNA miRNA information provided by mirtarbase database.
46
miRTarBase ID miRNA Experiments Reference
MIRT037464 hsa-miR-744-5p CLASH 23622248
MIRT1032146 hsa-miR-1271 CLIP-seq
MIRT1032147 hsa-miR-182 CLIP-seq
MIRT1032148 hsa-miR-3662 CLIP-seq
MIRT1032149 hsa-miR-4642 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IEA
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001664 Function G protein-coupled receptor binding IDA 15086532
GO:0005515 Function Protein binding IPI 15383276, 21988832, 25416956, 25910212, 26871637, 27107012, 28514442, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300969 25169 ENSG00000158301
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96D09
Protein name G-protein coupled receptor-associated sorting protein 2 (GASP-2)
Protein function May play a role in regulation of a variety of G-protein coupled receptors.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04826 Arm_2 584 837 Armadillo-like Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000269|PubMed:15086532}.
Sequence
MTGAEIEPSAQAKPEKKAGEEVIAGPERENDVPLVVRPKVRTQATTGARPKTETKSVPAA
RPKTEAQAMSGARPKTEVQVMGGARPKTEAQGITGARPKTDARAVGGARSKTDAKAIPGA
RPKDEAQAWAQSEFGTEAVSQAEGVSQTNAVAWPLATAESGSVTKSKGLSMDRELVNVDA
ETFPGTQGQKGIQPWFGPGEETNMGSWCYSRPRAREEASNESGFWSADETSTASSFWTGE
ETSVRSWPREESNTRSRHRAKHQTNPRSRPRSKQEAYVDSWSGSEDEASNPFSFWVGENT
NNLFRPRVREEANIRSKLRTNREDCFESESEDEFYKQSWVLPGEEANSRFRHRDKEDPNT
ALKLRAQKDVDSDRVKQEPRFEEEVIIGSWFWAEKEASLEGGASAICESEPGTEEGAIGG
SAYWAEEKSSLGAVAREEAKPESEEEAIFGSWFWDRDEACFDLNPCPVYKVSDRFRDAAE
ELNASSRPQTWDEVTVEFKPGLFHGVGFRSTSPFGIPEEASEMLEAKPKNLELSPEGEEQ
ESLLQPDQPSPEFTFQYDPSYRSVREIREHLRARESAESESWSCSCIQCELKIGSEEFEE
FLLLMDKIRDPFIHEISKIAMGMRSASQFTRDFIRDSGVVSLIETLLNYPSSRVRTSFLE
NMIHMAPPYPNLNMIETFICQVCEETLAHSVDSLEQLTGIRMLRHLTMTIDYHTLIANYM
SGFLSLLTTANARTKFHVLKMLLNLSENPAVAKKLFSAKALSIFVGLFNIEETNDNIQIV
IKMFQNISNIIKSGKMSLIDDDFSLEPLISAFREFEELAKQLQAQIDNQNDPEVGQQ
S
Sequence length 838
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome Likely pathogenic; Pathogenic rs2521622160, rs1569491884 RCV002474263
RCV000721928
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEAFNESS, X-LINKED 7 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GPRASP2-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
X-LINKED EXTERNAL AUDITORY CANAL ATRESIA, DILATED INTERNAL AUDITORY CANAL, FACIAL DYSMORPHISM SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 30926797
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
DEAFNESS, X-LINKED 7 Deafness ORPHANET_DG 28096187
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, X-LINKED 7 Deafness UNIPROT_DG 28096187
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hearing Loss Hearing loss Pubtator 28096187 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26854063
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 23345134
★☆☆☆☆
Found in Text Mining only
Ptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome, X-Linked Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)