GPRASP2 (G protein-coupled receptor associated sorting protein 2)

Gene

• Entrez ID: 114928
• Gene name: G protein-coupled receptor associated sorting protein 2
• Gene symbol: GPRASP2
• Synonyms (NCBI Gene): DFNX7, GASP2
• 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

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
MIRT1032150	hsa-miR-4698	CLIP-seq
MIRT1032151	hsa-miR-579	CLIP-seq
MIRT1032152	hsa-miR-640	CLIP-seq
MIRT1032153	hsa-miR-96	CLIP-seq
MIRT1032154	hsa-miR-3065-5p	CLIP-seq
MIRT1032155	hsa-miR-3120-3p	CLIP-seq
MIRT1032156	hsa-miR-378	CLIP-seq
MIRT1032157	hsa-miR-378b	CLIP-seq
MIRT1032158	hsa-miR-378c	CLIP-seq
MIRT1032159	hsa-miR-378d	CLIP-seq
MIRT1032160	hsa-miR-378e	CLIP-seq
MIRT1032161	hsa-miR-378f	CLIP-seq
MIRT1032162	hsa-miR-378h	CLIP-seq
MIRT1032163	hsa-miR-378i	CLIP-seq
MIRT1032164	hsa-miR-422a	CLIP-seq
MIRT1032165	hsa-miR-451b	CLIP-seq
MIRT1032166	hsa-miR-4520a-3p	CLIP-seq
MIRT1032167	hsa-miR-4638-3p	CLIP-seq
MIRT1032168	hsa-miR-4696	CLIP-seq
MIRT2542532	hsa-miR-200b	CLIP-seq
MIRT2542533	hsa-miR-200c	CLIP-seq
MIRT1032155	hsa-miR-3120-3p	CLIP-seq
MIRT2542534	hsa-miR-374c	CLIP-seq
MIRT1032156	hsa-miR-378	CLIP-seq
MIRT1032157	hsa-miR-378b	CLIP-seq
MIRT1032158	hsa-miR-378c	CLIP-seq
MIRT1032159	hsa-miR-378d	CLIP-seq
MIRT1032160	hsa-miR-378e	CLIP-seq
MIRT1032161	hsa-miR-378f	CLIP-seq
MIRT1032162	hsa-miR-378h	CLIP-seq
MIRT1032163	hsa-miR-378i	CLIP-seq
MIRT1032164	hsa-miR-422a	CLIP-seq
MIRT2542535	hsa-miR-429	CLIP-seq
MIRT1032165	hsa-miR-451b	CLIP-seq
MIRT1032166	hsa-miR-4520a-3p	CLIP-seq
MIRT1032167	hsa-miR-4638-3p	CLIP-seq
MIRT1032168	hsa-miR-4696	CLIP-seq
MIRT2542536	hsa-miR-4724-5p	CLIP-seq
MIRT2542537	hsa-miR-570	CLIP-seq
MIRT2542538	hsa-miR-642b	CLIP-seq
MIRT2542539	hsa-miR-655	CLIP-seq

Gene ontology (GO)

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
GO:0005634	Component	Nucleus	IDA
GO:0005737	Component	Cytoplasm	IDA
GO:0005829	Component	Cytosol	IBA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA

Other IDs

• MIM: 300969
• HGNC: 25169
• e!Ensembl: ENSG00000158301

Protein

• UniProt ID: 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
  IKMFQNISNIIKSGKMSLIDDDFSLEPLISAFREFEELAKQLQAQIDNQNDPEVGQQS

• Sequence length: 838

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	Likely pathogenic; Pathogenic	rs2521622160, rs1569491884	RCV002474263 RCV000721928

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
GPRASP2-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs137939858, rs199574855, rs138728937, rs375864701, rs146118714, rs956318160, rs372937088, rs200562810, rs139789934, rs146614457, rs147409319, rs151097718, rs1346920253, rs2081980861, rs186673137, rs113336462, rs113906002, rs112000579, rs148692824	RCV003936637 RCV003918966 RCV003900918 RCV004757575 RCV003939039 RCV003911667 RCV003944538 RCV003961819 RCV003963906 RCV003914652 RCV003947104 RCV003926841 RCV003927021 RCV003962313 RCV004757626 RCV003916096 RCV003916097 RCV003916040 RCV004757323

Associations from Text Mining
Disease Name	Relationship Type	References
Hearing Loss	Associate	28096187