Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54834
Gene name Gene Name - the full gene name approved by the HGNC.
Ganglioside induced differentiation associated protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDAP2
Synonyms (NCBI Gene) Gene synonyms aliases
MACROD3, SCAR27
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCAR27
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p12
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618128 18010 ENSG00000196505
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Spinocerebellar Ataxia spinocerebellar ataxia, autosomal recessive 27 GenCC