Gene Gene information from NCBI Gene database.
Entrez ID 54834
Gene name Ganglioside induced differentiation associated protein 2
Gene symbol GDAP2
Synonyms (NCBI Gene)
MACROD3SCAR27
Chromosome 1
Chromosome location 1p12
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs547792505 ->C Pathogenic Frameshift variant, coding sequence variant
rs752352896 G>A Pathogenic Coding sequence variant, stop gained
rs1557794465 ->C Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
678
miRTarBase ID miRNA Experiments Reference
MIRT027688 hsa-miR-98-5p Microarray 19088304
MIRT050701 hsa-miR-18a-5p CLASH 23622248
MIRT548113 hsa-miR-543 PAR-CLIP 21572407
MIRT548112 hsa-miR-577 PAR-CLIP 21572407
MIRT548111 hsa-miR-875-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0032526 Process Response to retinoic acid IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618128 18010 ENSG00000196505
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NXN4
Protein name Ganglioside-induced differentiation-associated protein 2
PDB 4UML
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01661 Macro 72 185 Macro domain Domain
PF13716 CRAL_TRIO_2 349 482 Divergent CRAL/TRIO domain Domain
Sequence
MDPLGAPSQFVDVDTLPSWGDSCQDELNSSDTTAEIFQEDTVRSPFLYNKDVNGKVVLWK
GDVALLNCTAIVNTSNESLTDKNPVSESIFMLAGPDLKEDLQKLKGCRTGEAKLTKGFNL
AARFIIHTVGPKYKSRYRTAAESSLYSCYRNVLQLAKEQSMSSVGFCVINSAKRGYPLED
ATHIA
LRTVRRFLEIHGETIEKVVFAVSDLEEGTYQKLLPLYFPRSLKEENRSLPYLPAD
IGNAEGEPVVPERQIRISEKPGAPEDNQEEEDEGLGVDLSFIGSHAFARMEGDIDKQRKL
ILQGQLSEAALQKQHQRNYNRWLCQARSEDLSDIASLKALYQTGVDNCGRTVMVVVGRNI
PVTLIDMDKALLYFIHVMDHIAVKEYVLVYFHTLTSEYNHLDSDFLKKLYDVVDVKYKRN
LKAVYFVHPTFRSKVSTWFFTTFSVSGLKDKIHHVDSLHQLFSAISPEQIDFPPFVLEYD
AR
ENGPYYTSYPPSPDL
Sequence length 497
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GDAP2-related disorder Likely pathogenic rs747457022 RCV003410827
Spinocerebellar ataxia, autosomal recessive 27 Likely pathogenic; Pathogenic rs1648861791, rs752352896, rs1557794465, rs547792505 RCV003989210
RCV000766186
RCV000766187
RCV000766188