GDAP2 - ganglioside induced differentiation associated protein 2 Gene

Also Known as SCAR27; MACROD3

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 54834

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

GDAP2 Protein Structure

Macro

Macro: Macro domain (72 - 185)

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (340 - 481)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 497 a.a.
Protein Preferred Names Protein Names

ganglioside-induced differentiation-associated protein 2

GDAP2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
GDAP2 Q9NXN4 CEP76 Homo sapiens Q8TAP6
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS05347 GDAP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others GDAP2 NCBI