2. Gene
  3. GIGYF2 - GRB10 interacting GYF protein 2 Gene

GIGYF2 - GRB10 interacting GYF protein 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 26058 | Gene type: protein coding

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

GYF: GYF domain (535 - 588)

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  • 1299 a.a.
Protein Preferred Names Protein Names

GRB10-interacting GYF protein 2

PERQ amino acid rich, with GYF domain 3

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05422 GIGYF2 Human Pre-designed siRNA Set A / 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