2. Gene
  3. RAB3GAP2 - RAB3 GTPase activating non-catalytic protein subunit 2 Gene

RAB3GAP2 - RAB3 GTPase activating non-catalytic protein subunit 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RAB3 GTPase 激活非催化蛋白亚基 2

种属: Homo sapiens

同用名: p150; SPG69; MARTS1; WARBM2; RAB3GAP150; RAB3-GAP150

基因 ID: 25782 | 基因类型: protein coding

关于 RAB3GAP2

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:220,148,293-220,272,453 (from NCBI)

This gene has 32 transcripts (splice variants), 211 orthologues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 9.2), brain (RPKM 7.7) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 RAB3 蛋白家族，其成员参与调节神经递质和激素的胞吐作用。这种蛋白质与 RAB3GAP1 形成 Rab3 GTPase 激活复合物，它构成调节亚基，而后者起催化亚基的作用。该基因在大脑中的表达水平最高，这与其在神经发育中的关键作用一致。该基因的突变与 Martsolf 综合征有关。[RefSeq 提供，2009 年 10 月]

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and Hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

RAB3GAP2 基因产物(1)

mRNA Protein Name
NM_012414.4 NP_036546.2 rab3 GTPase-activating protein non-catalytic subunit

RAB3GAP2 蛋白结构

RAB3GAP2_N

RAB3GAP2_N: Rab3 GTPase-activating protein regulatory subunit N-terminus (74 - 498)

RAB3GAP2_C

RAB3GAP2_C: Rab3 GTPase-activating protein regulatory subunit C-terminus (769 - 1370)

  • 0
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  • 1393 a.a.
蛋白主名 其他名称

rab3 GTPase-activating protein non-catalytic subunit

RAB3 GTPase activating protein subunit 2 (non-catalytic)

关联疾病

疾病名称 别名
Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf
Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2
Autosomal Recessive Spastic Paraplegia Type 69

Spg69
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia
Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3
Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4
Spastic Diplegia

Diplegic Infantile Cerebral Palsy

Little'S Disease

Cerebral Palsy

Cerebral Spastic Infantile Paralysis

Infantile Diplegic Cerebral Palsy

Infantile Spastic Cerebral Palsy

Littles Disease

Spastic Cerebral Palsy
Esophageal Atresia/Tracheoesophageal Fistula

Esophageal Atresia And/Or Tracheoesophageal Fistula

Tracheoesophageal Fistula With Or Without Esohageal Atresia

Esophageal Atresia / Tracheoesophageal Fistula

Ea/Tef

Esophageal Atresia With Tracheoesophageal Fistula

Esophageal Atresia With Or Without Tracheoesophageal Fistula
Spermatogenic Failure 24

SPGF24
Frontometaphyseal Dysplasia 2

FMD2
Hypogonadism
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D

Mcc2 Deficiency

3-Methylcrotonyl Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Ii

Methylcrotonylglycinuria, Type Ii

3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Type Ii

Mcgii

Methylcrotonylglycinuria Type Ii
Spastic Paraplegia 61, Autosomal Recessive

SPG61

Hereditary Spastic Paraplegia 61

Autosomal Recessive Spastic Paraplegia Type 61

Autosomal Recessive Spastic Paraplegia 61

Paraplegia, Spastic, Type 61, Autosomal Recessive
Spastic Cerebral Palsy

Palsy, Cerebral, Spastic

Infantile Hemiplegia Nos

Postnatal Infantile Hemiplegia Nos

Congenital Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Congenital Hemiplegia Nos

Hemiplegic Cerebral Palsy

Hemiplegic Infantile Cerebral Palsy
Spastic Paraplegia 31, Autosomal Dominant

SPG31

Hereditary Spastic Paraplegia 31

Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia Type 31

Spastic Paraplegia Type 31

Paraplegia, Spastic, Autosomal Dominant, Type 31
Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease
Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp
Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Polymicrogyria

Pmg
Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10
Lens Disease

Lens Diseases
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11560 RAB3GAP2 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus RAB3GAP2 RGD RGD:1311518
Canis familiaris RAB3GAP2 VGNC VGNC:45287
Felis catus RAB3GAP2 VGNC VGNC:64472
Macaca mulatta RAB3GAP2 VGNC VGNC:76499
Mus musculus RAB3GAP2 MGD MGI:1916043
Bos taurus RAB3GAP2 VGNC VGNC:33654
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