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

Also Known as p150; SPG69; MARTS1; WARBM2; RAB3GAP150; RAB3-GAP150

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25782

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	24891604	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22337587	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	24891604	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of protein localization to endoplasmic reticulum membrane	IMP IMP: Inferred from mutant phenotype	24891604	GOA
involved in positive regulation of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	25495476	GOA
involved in positive regulation of endoplasmic reticulum tubular network organization	IMP IMP: Inferred from mutant phenotype	24891604	GOA
involved in positive regulation of protein lipidation	IMP IMP: Inferred from mutant phenotype	25495476	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	24891604	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

RAB3GAP2 Protein Structure

RAB3GAP2_N

RAB3GAP2_C

0
300
600
900
1200
1393 a.a.

Protein Preferred Names	Protein Names
rab3 GTPase-activating protein non-catalytic subunit	RAB3 GTPase activating protein subunit 2 (non-catalytic)

RAB3GAP2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810070	Rab 3 GAP p150 Antibody (YA9414)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat
HY-P811158	RAB3GAP2 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11560	RAB3GAP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RAB3GAP2	NCBI