GPRASP2 G protein-coupled receptor associated sorting protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPRASP2provided by HGNC
Official Full Name: G protein-coupled receptor associated sorting protein 2provided by HGNC
Primary source: HGNC:HGNC:25169
See related: Ensembl:ENSG00000158301 MIM:300969; AllianceGenome:HGNC:25169
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DFNX7; GASP2
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 receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Expression: Broad expression in brain (RPKM 5.6), ovary (RPKM 5.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (102712448..102717733)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (101157397..101162682)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (101967376..101972661)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos, has been reported.
Title: Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos.
A missense variation of GPRASP2 was first identified to be implicated in X-linked SHL.
Title: GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.
Observational study of gene-disease association. (HuGE Navigator)
Title: Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
that huntingtin protein and GASP2 form a complex in cotransfected mammalian cells
Title: Huntingtin interacts with the receptor sorting family protein GASP2.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MedGen: C4746975 OMIM: 301018 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78520 (e-PCR)
- UniSTS:73812

SHGC-143390 (e-PCR)
- UniSTS:185057

Readthrough ARMCX5-GPRASP2

Readthrough gene: ARMCX5-GPRASP2, Included gene: GPRASP1, Included gene: ARMCX5, Included gene: GPRASP3, Included gene: LINC00630

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables amyloid-beta binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in hematopoietic stem cell homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: G-protein coupled receptor-associated sorting protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021322.1 RefSeqGene

Range

5120..10405

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001004051.4 → NP_001004051.1 G-protein coupled receptor-associated sorting protein 2

See identical proteins and their annotated locations for NP_001004051.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.

Source sequence(s)

AK123832, AL522674, BC051707

UniProtKB/Swiss-Prot

D3DXA0, Q8NAB4, Q96D09

UniProtKB/TrEMBL

B3KW05

Related

ENSP00000507692.1, ENST00000483720.7

Conserved Domains (2) summary

pfam04826
Location:593 → 837

Arm_2; Armadillo-like

cl26386
Location:1 → 163

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_001184874.3 → NP_001171803.1 G-protein coupled receptor-associated sorting protein 2

See identical proteins and their annotated locations for NP_001171803.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript. All five variants encode the same protein.

Source sequence(s)

AK123832, BC051707, DA389655

UniProtKB/Swiss-Prot

D3DXA0, Q8NAB4, Q96D09

UniProtKB/TrEMBL

B3KW05

Related

ENSP00000437872.1, ENST00000543253.6

Conserved Domains (2) summary

pfam04826
Location:593 → 837

Arm_2; Armadillo-like

cl26386
Location:1 → 163

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_001184875.3 → NP_001171804.1 G-protein coupled receptor-associated sorting protein 2

See identical proteins and their annotated locations for NP_001171804.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.

Source sequence(s)

AK123832, BC051707, DA231935

UniProtKB/Swiss-Prot

D3DXA0, Q8NAB4, Q96D09

UniProtKB/TrEMBL

B3KW05

Related

ENSP00000437394.1, ENST00000535209.6

Conserved Domains (2) summary

pfam04826
Location:593 → 837

Arm_2; Armadillo-like

cl26386
Location:1 → 163

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_001184876.3 → NP_001171805.1 G-protein coupled receptor-associated sorting protein 2

See identical proteins and their annotated locations for NP_001171805.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.

Source sequence(s)

AK123832, BC051707, DA776293

UniProtKB/Swiss-Prot

D3DXA0, Q8NAB4, Q96D09

UniProtKB/TrEMBL

B3KW05

Related

ENSP00000508139.1, ENST00000486814.2

Conserved Domains (2) summary

pfam04826
Location:593 → 837

Arm_2; Armadillo-like

cl26386
Location:1 → 163

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_138437.6 → NP_612446.1 G-protein coupled receptor-associated sorting protein 2

See identical proteins and their annotated locations for NP_612446.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.

Source sequence(s)

AK123832, BC051707

UniProtKB/Swiss-Prot

D3DXA0, Q8NAB4, Q96D09

UniProtKB/TrEMBL

B3KW05

Related

ENSP00000339057.3, ENST00000332262.10

Conserved Domains (2) summary

pfam04826
Location:593 → 837

Arm_2; Armadillo-like

cl26386
Location:1 → 163

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III