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GIGYF2 - GRB10 interacting GYF protein 2 Gene

Also Known as GYF2; PERQ2; PERQ3; PARK11; TNRC15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26058

About GIGYF2

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,697,331-232,860,605 (from NCBI)

This gene has 46 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 16.1), thyroid (RPKM 9.2) and 25 other tissues.

Summary

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GIGYF2 Products (4)

mRNA	Protein	Name
NM_001103146.3	NP_001096616.1	GRB10-interacting GYF protein 2 isoform b
NM_001103147.2	NP_001096617.1	GRB10-interacting GYF protein 2 isoform a
NM_001103148.2	NP_001096618.1	GRB10-interacting GYF protein 2 isoform c
NM_015575.4	NP_056390.2	GRB10-interacting GYF protein 2 isoform b

GIGYF2 Protein Structure

GYF

0
200
400
600
800
1000
1200
1299 a.a.

Protein Preferred Names	Protein Names
GRB10-interacting GYF protein 2	PERQ amino acid rich, with GYF domain 3

GIGYF2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GIGYF2	Q6Y7W6	EIF4E2	Homo sapiens	O60573-1	ITC	28698298
Intra	GIGYF2	Q6Y7W6	YWHAZ	Homo sapiens	P63104	Pull Down	15161933

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Parkinson Disease 11, Autosomal Dominant	Parkinson Disease 11, Autosomal Dominant, Susceptibility To Parkinson Disease 11 PARK11 Parkinson Disease, Type 11
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Vitreoretinal Degeneration, Snowflake Type	Snowflake Vitreoretinal Degeneration SVD Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
Parkinson Disease 3, Autosomal Dominant	PARK3 Parkinson Disease 3 Parkinson Disease 3, Autosomal Dominant Lewy Body Parkinson'S Disease 3 Autosomal Dominant Lewy Body Parkinson Disease 3 Autosomal Dominant Parkinson Disease 3 Parkinson Disease Type 3 Autosomal Dominant Parkinson Disease Parkinson Disease, Autosomal Dominant Parkinson Disease, Familial, Type 1
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Parkinson Disease 21	PARK21 Parkinson'S Disease 21 Parkinson Disease, Type 21
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonian-Pyramidal Syndrome Pallidopyramidal Syndrome Parkinson Disease 15, Autosomal Recessive PARK15 Pkps Pallido-Pyramidal Syndrome Parkinson'S Disease 15 Autosomal Recessive Early-Onset Parkinson Disease 15 Autosomal Recessive Early-Onset Parkinson'S Disease 15 Pallido-Pyramidal Disease Parkinson Disease 15 Parkinson Disease 15 Autosomal Recessive Pps Parkinson Disease, Type 15
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05422	GIGYF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181617	12-Hydroxyfusicoccin		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GIGYF2	VGNC	VGNC:62550
Mus musculus	GIGYF2	MGD	MGI:2138584
Bos taurus	GIGYF2	VGNC	VGNC:29356
Macaca mulatta	GIGYF2	VGNC	VGNC:72931
Rattus norvegicus	GIGYF2	RGD	RGD:2318130
Canis familiaris	GIGYF2	VGNC	VGNC:41214
Others	GIGYF2	NCBI