GDAP2

Protein identityUniProt · HPA

UniProt accession

Q9NXN4

Gene

GDAP2

Ensembl

ENSG00000196505

Chromosome

1

Canonical length

497 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Endoplasmic reticulum

OverviewNCBI Gene

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, Jul 2025]

Canonical amino-acid sequenceUniProt

497 residues, UniProt reviewed canonical sequence.

>Q9NXN4|GDAP2
     1  MDPLGAPSQF VDVDTLPSWG DSCQDELNSS DTTAEIFQED TVRSPFLYNK DVNGKVVLWK
    61  GDVALLNCTA IVNTSNESLT DKNPVSESIF MLAGPDLKED LQKLKGCRTG EAKLTKGFNL
   121  AARFIIHTVG PKYKSRYRTA AESSLYSCYR NVLQLAKEQS MSSVGFCVIN SAKRGYPLED
   181  ATHIALRTVR RFLEIHGETI EKVVFAVSDL EEGTYQKLLP LYFPRSLKEE NRSLPYLPAD
   241  IGNAEGEPVV PERQIRISEK PGAPEDNQEE EDEGLGVDLS FIGSHAFARM EGDIDKQRKL
   301  ILQGQLSEAA LQKQHQRNYN RWLCQARSED LSDIASLKAL YQTGVDNCGR TVMVVVGRNI
   361  PVTLIDMDKA LLYFIHVMDH IAVKEYVLVY FHTLTSEYNH LDSDFLKKLY DVVDVKYKRN
   421  LKAVYFVHPT FRSKVSTWFF TTFSVSGLKD KIHHVDSLHQ LFSAISPEQI DFPPFVLEYD
   481  ARENGPYYTS YPPSPDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDAP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

7.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDAP2.

Disease | AllUniProt

Conditions GDAP2 is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 27 (SCAR27) MIM:618369

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 94 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spinocerebellar ataxia, autosomal recessive 27
• GDAP2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.9

gnomAD pLI

0

gnomAD missense Z

0.93

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• response to retinoic acid

Cellular components

• lysosomal membrane

Protein domainsUniProt · Pfam · InterPro

• CRAL-TRIO lipid binding domain
• Macro domain
• CRAL-TRIO lipid binding domain superfamily
• Macro domain-like
• Macro domain
• Divergent CRAL/TRIO domain
• GDAP2, macro domain

KeywordsUniProt

• Neurodegeneration
• Phosphoprotein
• Spinocerebellar ataxia

InteractionsUniProt · HPA

Protein binding partners of GDAP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• VPS35