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

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

中文名称:G 蛋白偶联受体相关分选蛋白 2

种属: Homo sapiens

同用名: DFNX7; GASP2

基因 ID: 114928 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是调节 G 蛋白偶联受体 (GPCR) 活性的家族成员。编码的蛋白质已被证明能够与几种 GPCR 相互作用,包括 M1 毒蕈碱乙酰胆碱受体和降钙素受体。已发现该基因的几种转录变体编码相同的蛋白质。[RefSeq 提供,2010 年 5 月]

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 基因产物(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

GPRASP2 蛋白结构

Arm_2

Arm_2: Armadillo-like (593 - 836)

  • 0
  • 200
  • 400
  • 600
  • 838 a.a.
蛋白主名 其他名称

G-protein coupled receptor-associated sorting protein 2

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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