GDAP2 - ganglioside induced differentiation associated protein 2 Gene

Homo sapiens

Also known as SCAR27; MACROD3

Gene ID: 54834 | Gene type: protein coding

About GDAP2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:117,863,485-117,929,621 (from NCBI)

This gene has 6 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 1.6), thyroid (RPKM 1.3) and 25 other tissues.

Summary

Predicted to act upstream of or within response to retinoic acid. Located in lysosomal membrane. Implicated in autosomal recessive spinocerebellar ataxia 27. [provided by Alliance of Genome Resources, Apr 2022]

GDAP2 Products(2)

mRNA	Protein	Name
NM_001135589.3	NP_001129061.1	ganglioside-induced differentiation-associated protein 2 isoform b
NM_017686.4	NP_060156.1	ganglioside-induced differentiation-associated protein 2 isoform a

GDAP2 Protein Structure

Macro

CRAL_TRIO_2

0
100
200
300
400
497 a.a.

Protein Preferred Names

Protein Names

ganglioside-induced differentiation-associated protein 2

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27	Autosomal Recessive Spinocerebellar Ataxia 27
Spinocerebellar Ataxia, Autosomal Recessive, 27

Spinocerebellar Ataxia 27

Spinocerebellar Ataxia Type 27	SCA27
Cerebellar Ataxia Autosomal Dominant Fgf14-Related	Vestibulocerebellar Disorder With Predominant Ocular Signs
Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related	Nystagmus 4, Congenital, Autosomal Dominant, Formerly
Nys4, Formerly	Ataxia, Spinocerebellar, Type 27

Septic Myocarditis

Toxic Myocarditis

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-RS05347	GDAP2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GDAP2	VGNC	VGNC:41157
Felis catus	GDAP2	VGNC	VGNC:62500
Bos taurus	GDAP2	VGNC	VGNC:29297
Rattus norvegicus	GDAP2	RGD	RGD:1306050
Macaca mulatta	GDAP2	VGNC	VGNC:99958
Mus musculus	GDAP2	MGD	MGI:1338001

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