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 receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provi... See more...

Aliases for GPRASP2 Gene

Aliases for GPRASP2 Gene

  • G Protein-Coupled Receptor Associated Sorting Protein 2 2 3 5
  • G-Protein Coupled Receptor-Associated Sorting Protein 2 3 4
  • GASP-2 4
  • DFNX7 3
  • GASP2 3

External Ids for GPRASP2 Gene

Previous GeneCards Identifiers for GPRASP2 Gene

  • GC0XP101773
  • GC0XP101853
  • GC0XP101974
  • GC0XP091571
  • GC0XP101977
  • GC0XP101979
  • GC0XP101985

Summaries for GPRASP2 Gene

Entrez Gene Summary for GPRASP2 Gene

  • 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 receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for GPRASP2 Gene

GPRASP2 (G Protein-Coupled Receptor Associated Sorting Protein 2) is a Protein Coding gene. Diseases associated with GPRASP2 include Deafness, X-Linked 7 and Extratemporal Epilepsy. Gene Ontology (GO) annotations related to this gene include binding and amyloid-beta binding. An important paralog of this gene is GPRASP1.

UniProtKB/Swiss-Prot Summary for GPRASP2 Gene

  • May play a role in regulation of a variety of G-protein coupled receptors.

Gene Wiki entry for GPRASP2 Gene

Additional gene information for GPRASP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPRASP2 Gene

Genomics for GPRASP2 Gene

GeneHancer (GH) Regulatory Elements for GPRASP2 Gene

Promoters and enhancers for GPRASP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ102598 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 504.4 -112.3 -112275 3 ZNF217 EP300 TCF12 POLR2G PHF8 ZFX CTCF POLR2A ZBTB10 CLOCK GPRASP2 ARMCX5 ARMCX5-GPRASP2 GPRASP1 lnc-TMSB15A-3 ENSG00000270050
GH0XJ102711 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 724 2.6 ZNF217 CTCF ZFX ZNF639 ZBTB26 SAP30 ATF2 ZEB1 KLF9 SMC3 ENSG00000286237 GPRASP2 BHLHB9 lnc-TMSB15A-6 ARMCX5-GPRASP2
GH0XJ102650 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 500.2 -60.3 -60300 2.6 CTCF MXI1 KLF9 ZNF76 ZFHX2 ZNF335 ZBTB48 ZNF843 RAD21 KLF1 GPRASP1 lnc-ARMCX5-3 GPRASP2 BEX1 ENSG00000270050 ARMCX5-GPRASP2
GH0XJ103151 Enhancer 1.1 Ensembl ENCODE 13.1 +440.5 440524 2.2 ZNF217 JUND PHB2 FOS ZNF639 ZBTB5 REST RFX1 CTBP1 MYC BEX4 GPRASP1 TCEAL3 ENSG00000234345 TMSB15B ZCCHC18 GPRASP2 BEX3 TCEAL7 TCEAL1
GH0XJ103310 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 +598.5 598535 1.8 USF1 REST ZBTB26 USF2 MXI1 ZNF341 POLR2A SIN3A MYC KLF9 BEX2 TCEAL7 BEX4 BEX1 GPRASP2 lnc-BEX3-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPRASP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPRASP2

Top Transcription factor binding sites by QIAGEN in the GPRASP2 gene promoter:
  • AML1a
  • Egr-1
  • HNF-3beta
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx2-5
  • POU3F1

Genomic Locations for GPRASP2 Gene

Genomic Locations for GPRASP2 Gene
chrX:102,712,176-102,717,733
(GRCh38/hg38)
Size:
5,558 bases
Orientation:
Plus strand
chrX:101,967,104-101,973,607
(GRCh37/hg19)
Size:
6,504 bases
Orientation:
Plus strand

Genomic View for GPRASP2 Gene

Genes around GPRASP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPRASP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPRASP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPRASP2 Gene

Proteins for GPRASP2 Gene

  • Protein details for GPRASP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D09-GASP2_HUMAN
    Recommended name:
    G-protein coupled receptor-associated sorting protein 2
    Protein Accession:
    Q96D09
    Secondary Accessions:
    • D3DXA0
    • Q8NAB4

    Protein attributes for GPRASP2 Gene

    Size:
    838 amino acids
    Molecular mass:
    93773 Da
    Quaternary structure:
    • Interacts with cytoplasmic tails of a variety of G-protein coupled receptors such as muscarinic acetylcholine receptor M1/CHRM1 and calcitonin receptor/CALCR.

neXtProt entry for GPRASP2 Gene

Post-translational modifications for GPRASP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPRASP2 Gene

No data available for DME Specific Peptides for GPRASP2 Gene

Domains & Families for GPRASP2 Gene

Gene Families for GPRASP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GPRASP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPRASP2 Gene

GenScript: Design optimal peptide antigens:
  • G-protein coupled receptor-associated sorting protein 2 (GASP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96D09

UniProtKB/Swiss-Prot:

GASP2_HUMAN :
  • Belongs to the GPRASP family.
Family:
  • Belongs to the GPRASP family.
genes like me logo Genes that share domains with GPRASP2: view

Function for GPRASP2 Gene

Molecular function for GPRASP2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in regulation of a variety of G-protein coupled receptors.

Gene Ontology (GO) - Molecular Function for GPRASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IEA --
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with GPRASP2: view
genes like me logo Genes that share phenotypes with GPRASP2: view

Human Phenotype Ontology for GPRASP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GPRASP2 Gene

miRTarBase miRNAs that target GPRASP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for GPRASP2 Gene

Localization for GPRASP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPRASP2 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPRASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with GPRASP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GPRASP2 Gene

Pathways & Interactions for GPRASP2 Gene

PathCards logo

SuperPathways for GPRASP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPRASP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GPRASP2 Gene

Drugs & Compounds for GPRASP2 Gene

No Compound Related Data Available

Transcripts for GPRASP2 Gene

mRNA/cDNA for GPRASP2 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPRASP2 Gene

No ASD Table

Relevant External Links for GPRASP2 Gene

GeneLoc Exon Structure for
GPRASP2

Expression for GPRASP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPRASP2 Gene

Protein differential expression in normal tissues from HIPED for GPRASP2 Gene

This gene is overexpressed in Adrenal (21.6), Fetal Brain (19.7), and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPRASP2 Gene



Protein tissue co-expression partners for GPRASP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPRASP2

SOURCE GeneReport for Unigene cluster for GPRASP2 Gene:

Hs.731996

mRNA Expression by UniProt/SwissProt for GPRASP2 Gene:

Q96D09-GASP2_HUMAN
Tissue specificity: Expressed in the brain.

Evidence on tissue expression from TISSUES for GPRASP2 Gene

  • Nervous system(4.6)
  • Kidney(4.2)
  • Lung(4.2)
  • Spleen(4.1)
genes like me logo Genes that share expression patterns with GPRASP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPRASP2 Gene

Orthologs for GPRASP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPRASP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPRASP2 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPRASP2 31
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GPRASP2 31
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gprasp2 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 28 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 22 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 22 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ARMCX3 31
  • 18 (a)
OneToMany
Species where no ortholog for GPRASP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GPRASP2 Gene

ENSEMBL:
Gene Tree for GPRASP2 (if available)
TreeFam:
Gene Tree for GPRASP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPRASP2: view image

Paralogs for GPRASP2 Gene

(1) SIMAP similar genes for GPRASP2 Gene using alignment to 1 proteins:

  • GASP2_HUMAN
genes like me logo Genes that share paralogs with GPRASP2: view

Variants for GPRASP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPRASP2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
732706 Likely Benign: not provided 102,717,029(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
754282 Likely Benign: not provided 102,716,132(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
780079 Benign: not provided 102,717,032(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
781553 Benign: not provided 102,715,734(+) A/G MISSENSE_VARIANT,INTRON_VARIANT
781554 Benign: not provided 102,715,949(+) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GPRASP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPRASP2 Gene

Variant ID Type Subtype PubMed ID
nsv526716 CNV gain 19592680

Variation tolerance for GPRASP2 Gene

Residual Variation Intolerance Score: 80.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPRASP2 Gene

Human Gene Mutation Database (HGMD)
GPRASP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPRASP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPRASP2 Gene

Disorders for GPRASP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GPRASP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, x-linked 7
  • dfnx7
extratemporal epilepsy
basal cell carcinoma, infundibulocystic
  • basal cell carcinoma with follicular differentiation
ptosis
  • blepharoptosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GASP2_HUMAN
  • Deafness, X-linked, 7 (DFNX7) [MIM:301018]: A congenital form of bilateral mixed or conductive hearing loss, which is progressive in some patients. Additional clinical features include ear anomalies and facial dysmorphism with bilateral ptosis. {ECO:0000269 PubMed:28096187}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GPRASP2

genes like me logo Genes that share disorders with GPRASP2: view

No data available for Genatlas for GPRASP2 Gene

Publications for GPRASP2 Gene

  1. Identification of a novel family of G protein-coupled receptor associated sorting proteins. (PMID: 15086532) Simonin F … Kieffer BL (Journal of neurochemistry 2004) 2 3 4 54
  2. GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. (PMID: 28096187) Xing G … Cao X (Journal of medical genetics 2017) 3 4 54
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54
  4. Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism sustained by gene conversion events. (PMID: 16221301) Winter EE … Ponting CP (BMC evolutionary biology 2005) 2 3 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GPRASP2 Gene

Sources for GPRASP2 Gene