GTPBP2 - GTP binding protein 2 Gene

Homo sapiens

Also known as JABELS

Gene ID: 54676 | Gene type: protein coding

About GTPBP2

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,620,494-43,631,333 (from NCBI)

This gene has 10 transcripts (splice variants), 272 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 18.8), esophagus (RPKM 18.0) and 25 other tissues.

Summary

GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]

GTPBP2 Products(2)

mRNA	Protein	Name
NM_001286216.2	NP_001273145.1	GTP-binding protein 2 isoform b
NM_019096.5	NP_061969.3	GTP-binding protein 2 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTP binding	IDA IDA: Inferred from direct assay	30108131	GOA
enables alpha-aminoacyl-tRNA binding	IDA IDA: Inferred from direct assay	30108131	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23455924	GOA
NOT enables translation elongation factor activity	IDA IDA: Inferred from direct assay	30108131	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

GTPBP2 Protein Structure

GTP_EFTU

GTP_EFTU_D3

0
100
200
300
400
500
602 a.a.

Protein Preferred Names

Protein Names

GTP-binding protein 2

GTPBP2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GTPBP2	Q9BX10	SNRNP70	Homo sapiens	P08621	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	SNRNP70	Homo sapiens	P08621	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	SUV39H1	Homo sapiens	O43463	Anti Tag CoIP	23455924
Intra	GTPBP2	Q9BX10	SUV39H1	Homo sapiens	O43463	Y2H	23455924
Intra	GTPBP2	Q9BX10	PRMT5	Homo sapiens	O14744	Y2H	23455924
Intra	GTPBP2	Q9BX10	GPN3	Homo sapiens	Q9UHW5	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	GPN3	Homo sapiens	Q9UHW5	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	GPN3	Homo sapiens	Q9UHW5	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	NXF1	Homo sapiens	Q9UBU9	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	GTPBP2	Homo sapiens	Q9BX10	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	GTPBP2	Homo sapiens	Q9BX10	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	GTPBP2	Homo sapiens	Q9BX10	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	KDM1A	Homo sapiens	O60341	Anti Tag CoIP	23455924
Intra	GTPBP2	Q9BX10	PRMT6	Homo sapiens	Q96LA8	Anti Tag CoIP	23455924

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Jaberi-Elahi Syndrome

JABELS

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Neurodegeneration With Brain Iron Accumulation 2b

NBIA2B	Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Neuroaxonal Dystrophy, Atypical	Karak Syndrome
Atypical Neuroaxonal Dystrophy	Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
Neurodegeneration, With Brain Iron Accumulation, Type 2b	Neurodegeneration With Brain Iron Accumulation 2

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Neurodegeneration With Brain Iron Accumulation 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

Polymicrogyria, Bilateral Temporooccipital

Bilateral Parasagittal Parieto-Occipital Polymicrogyria	BTOP
Bilateral Temporooccipital Polymicrogyria	Polymicrogyria

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05909	GTPBP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GTPBP2	VGNC	VGNC:73321
Felis catus	GTPBP2	VGNC	VGNC:67508
Rattus norvegicus	GTPBP2	RGD	RGD:1306367
Mus musculus	GTPBP2	MGD	MGI:1860138
Canis familiaris	GTPBP2	VGNC	VGNC:41558
Bos taurus	GTPBP2	VGNC	VGNC:29709

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