GPRASP2 - G protein-coupled receptor associated sorting protein 2 Gene

Also Known as DFNX7; GASP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 114928

About GPRASP2

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:102,712,448-102,717,733 (from NCBI)

This gene has 5 transcripts (splice variants), 150 orthologues, 11 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 5.6), ovary (RPKM 5.0) and 24 other tissues.

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]

GPRASP2 Products (5)

mRNA Protein Name
NM_001004051.4 NP_001004051.1 G-protein coupled receptor-associated sorting protein 2
NM_001184874.3 NP_001171803.1 G-protein coupled receptor-associated sorting protein 2
NM_001184875.3 NP_001171804.1 G-protein coupled receptor-associated sorting protein 2
NM_001184876.3 NP_001171805.1 G-protein coupled receptor-associated sorting protein 2
NM_138437.6 NP_612446.1 G-protein coupled receptor-associated sorting protein 2
Molecular Function GO Annotation Evidence References Source
enables G protein-coupled receptor binding IDA
IDA: Inferred from direct assay
15086532 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15383276 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPRASP2 Protein Structure

Arm_2

Arm_2: Armadillo-like (593 - 836)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 838 a.a.
Protein Preferred Names Protein Names

G-protein coupled receptor-associated sorting protein 2

Related Diseases

Diseases Alias
Deafness, X-Linked 7
  • X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome

  • DFNX7

  • X-Linked Deafness 7

  • Deafness, X-Linked, 7

Extratemporal Epilepsy
Autosomal Dominant Nonsyndromic Deafness 74
  • Dfna74

Deafness, X-Linked 4
  • DFNX4

  • Dfn6

  • Deafness, Nonsyndromic Sensorineural Progressive 6

  • X-Linked Deafness 4

  • Deafness, X-Linked 6, Progressive

  • Nonsyndromic Sensorineural Progressive Deafness 6

  • X-Linked Progressive Deafness 6

  • Deafness, X-Linked, 4

  • Deafness Nonsyndromic Sensorineural Progressive 6

  • Deafness X-Linked 6 Progressive

  • Deafness, X-Linked, Type 4

Deafness, X-Linked 5, With Peripheral Neuropathy
  • Deafness, X-Linked 5

  • DFNX5

  • Aunx1

  • Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy

  • X-Linked Deafness 5

  • X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1

  • X-Linked Hsan With Deafness

  • X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy

  • X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness

  • X-Linked Hsan With Hearing Loss

  • X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss

  • Deafness, X-Linked, 5, With Peripheral Neuropathy

  • Deafness, X-Linked, Type 5

Basal Cell Carcinoma, Infundibulocystic
  • Basal Cell Carcinoma With Follicular Differentiation

  • Infundibulocystic Basal Cell Carcinoma

  • Skin Infundibulocystic Basal Cell Carcinoma

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Deafness, X-Linked 2
  • Progressive Deafness With Stapes Fixation

  • DFNX2

  • Dfn3

  • Nance Deafness

  • Perilymphatic Gusher-Deafness Syndrome

  • Stapedo-Vestibular Ankylosis

  • Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

  • X-Linked Deafness 2

  • X-Linked Mixed Conductive And Neurosensory Deafness

  • X-Linked Mixed Conductive And Sensorineural Deafness

  • Deafness 3 Conductive With Stapes Fixation

  • Deafness Conductive With Stapes Fixation

  • Deafness Mixed With Perilymphatic Gusher

  • Thies-Reis Syndrome

  • Deafness, Conductive, With Stapes Fixation

  • Deafness 3, Conductive, With Stapes Fixation

  • Deafness, Mixed, With Perilymphatic Gusher

  • Conductive Deafness 3 With Stapes Fixation

  • Conductive Deafness With Stapes Fixation

  • Mixed Deafness With Perilymphatic Gusher

  • X-Linked Deafness Type 2

  • X-Linked Mixed Conductive And Neurosensory Hearing Loss

  • X-Linked Mixed Conductive And Sensorineural Hearing Loss

  • X-Linked Sensorineural Deafness

  • X-Linked Stapes Gusher Syndrome

  • Deafness Mixed With Perilymphatic Gusher, X-Linked

  • Dfn 3 Nonsyndromic Hearing Loss And Deafness

  • Gusher Syndrome

  • Thies Reis Syndrome

  • Progressive Hearing Loss With Stapes Fixation

  • Deafness, X-Linked, 2

  • Deafness Mixed With Perilymph Gusher X-Linked

  • Deafness, X-Linked, Type 2

  • Progressive Hearing Loss Stapes Fixation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris GPRASP2 VGNC VGNC:41449
Bos taurus GPRASP2 VGNC VGNC:29605
Felis catus GPRASP2 VGNC VGNC:82381
Mus musculus GPRASP2 MGD MGI:2442071
Rattus norvegicus GPRASP2 RGD RGD:1561019
Macaca mulatta GPRASP2 VGNC VGNC:73006
Others GPRASP2 NCBI