GTPBP2 - GTP binding protein 2 Gene

Also Known as JABELS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54676

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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	GTPBP2	NCBI