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UniProtKB - Q9NXN4 (GDAP2_HUMAN)
Protein
Ganglioside-induced differentiation-associated protein 2
Gene
GDAP2
Organism
Homo sapiens (Human)
Status
Functioni
GO - Biological processi
- response to retinoic acid Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q9NXN4 |
SignaLinki | Q9NXN4 |
Names & Taxonomyi
Protein namesi | Recommended name: Ganglioside-induced differentiation-associated protein 2 |
Gene namesi | Name:GDAP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18010, GDAP2 |
MIMi | 618128, gene |
neXtProti | NX_Q9NXN4 |
VEuPathDBi | HostDB:ENSG00000196505 |
Pathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia, autosomal recessive, 27 (SCAR27)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082087 | 316 – 497 | Missing in SCAR27. 1 PublicationAdd BLAST | 182 |
Keywords - Diseasei
Disease variant, Neurodegeneration, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 54834 |
MalaCardsi | GDAP2 |
MIMi | 618369, phenotype |
OpenTargetsi | ENSG00000196505 |
PharmGKBi | PA28628 |
Miscellaneous databases
Pharosi | Q9NXN4, Tbio |
Genetic variation databases
BioMutai | GDAP2 |
DMDMi | 74753050 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000331394 | 1 – 497 | Ganglioside-induced differentiation-associated protein 2Add BLAST | 497 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 280 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9NXN4 |
jPOSTi | Q9NXN4 |
MassIVEi | Q9NXN4 |
MaxQBi | Q9NXN4 |
PaxDbi | Q9NXN4 |
PeptideAtlasi | Q9NXN4 |
PRIDEi | Q9NXN4 |
ProteomicsDBi | 83115 [Q9NXN4-1] 83116 [Q9NXN4-2] |
PTM databases
iPTMneti | Q9NXN4 |
PhosphoSitePlusi | Q9NXN4 |
Expressioni
Gene expression databases
Bgeei | ENSG00000196505, Expressed in caput epididymis and 197 other tissues |
Genevisiblei | Q9NXN4, HS |
Organism-specific databases
HPAi | ENSG00000196505, Low tissue specificity |
Interactioni
Binary interactionsi
Q9NXN4
With | #Exp. | IntAct |
---|---|---|
CEP76 [Q8TAP6] | 3 | EBI-10316460,EBI-742887 |
Protein-protein interaction databases
BioGRIDi | 120187, 11 interactors |
IntActi | Q9NXN4, 5 interactors |
MINTi | Q9NXN4 |
STRINGi | 9606.ENSP00000358451 |
Miscellaneous databases
RNActi | Q9NXN4, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q9NXN4 |
SMRi | Q9NXN4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 43 – 223 | MacroPROSITE-ProRule annotationAdd BLAST | 181 | |
Domaini | 333 – 481 | CRAL-TRIOAdd BLAST | 149 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 252 – 273 | DisorderedSequence analysisAdd BLAST | 22 |
Sequence similaritiesi
Belongs to the GDAP2 family.Curated
Phylogenomic databases
eggNOGi | KOG2633, Eukaryota |
GeneTreei | ENSGT00940000156336 |
HOGENOMi | CLU_026877_0_0_1 |
InParanoidi | Q9NXN4 |
OMAi | LYFPRDR |
OrthoDBi | 937161at2759 |
PhylomeDBi | Q9NXN4 |
TreeFami | TF324164 |
Family and domain databases
CDDi | cd02905, Macro_GDAP2-like, 1 hit cd00170, SEC14, 1 hit |
Gene3Di | 3.40.220.10, 1 hit 3.40.525.10, 1 hit |
InterProi | View protein in InterPro IPR001251, CRAL-TRIO_dom IPR036865, CRAL-TRIO_dom_sf IPR002589, Macro_dom IPR043472, Macro_dom-like IPR035793, Macro_GDAP2 |
Pfami | View protein in Pfam PF13716, CRAL_TRIO_2, 1 hit PF01661, Macro, 1 hit |
SMARTi | View protein in SMART SM00506, A1pp, 1 hit SM00516, SEC14, 1 hit |
SUPFAMi | SSF52087, SSF52087, 1 hit SSF52949, SSF52949, 1 hit |
PROSITEi | View protein in PROSITE PS51154, MACRO, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9NXN4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDPLGAPSQF VDVDTLPSWG DSCQDELNSS DTTAEIFQED TVRSPFLYNK
60 70 80 90 100
DVNGKVVLWK GDVALLNCTA IVNTSNESLT DKNPVSESIF MLAGPDLKED
110 120 130 140 150
LQKLKGCRTG EAKLTKGFNL AARFIIHTVG PKYKSRYRTA AESSLYSCYR
160 170 180 190 200
NVLQLAKEQS MSSVGFCVIN SAKRGYPLED ATHIALRTVR RFLEIHGETI
210 220 230 240 250
EKVVFAVSDL EEGTYQKLLP LYFPRSLKEE NRSLPYLPAD IGNAEGEPVV
260 270 280 290 300
PERQIRISEK PGAPEDNQEE EDEGLGVDLS FIGSHAFARM EGDIDKQRKL
310 320 330 340 350
ILQGQLSEAA LQKQHQRNYN RWLCQARSED LSDIASLKAL YQTGVDNCGR
360 370 380 390 400
TVMVVVGRNI PVTLIDMDKA LLYFIHVMDH IAVKEYVLVY FHTLTSEYNH
410 420 430 440 450
LDSDFLKKLY DVVDVKYKRN LKAVYFVHPT FRSKVSTWFF TTFSVSGLKD
460 470 480 490
KIHHVDSLHQ LFSAISPEQI DFPPFVLEYD ARENGPYYTS YPPSPDL
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042843 | 95 | P → R. Corresponds to variant dbSNP:rs12752437Ensembl. | 1 | |
Natural variantiVAR_042844 | 106 | G → S. Corresponds to variant dbSNP:rs12753610Ensembl. | 1 | |
Natural variantiVAR_042845 | 312 | Q → P. Corresponds to variant dbSNP:rs12145577Ensembl. | 1 | |
Natural variantiVAR_082087 | 316 – 497 | Missing in SCAR27. 1 PublicationAdd BLAST | 182 | |
Natural variantiVAR_042846 | 489 | T → A. Corresponds to variant dbSNP:rs34924570Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_033186 | 483 – 497 | ENGPY…PSPDL → VRSTRSSPSPGMVY in isoform 2. 1 PublicationAdd BLAST | 15 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK000149 mRNA Translation: BAA90976.1 AL122007 Genomic DNA No translation available. AL121993 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56682.1 CH471122 Genomic DNA Translation: EAW56683.1 BC013132 mRNA Translation: AAH13132.1 |
CCDSi | CCDS44201.1 [Q9NXN4-2] CCDS897.1 [Q9NXN4-1] |
RefSeqi | NP_001129061.1, NM_001135589.2 [Q9NXN4-2] NP_060156.1, NM_017686.3 [Q9NXN4-1] |
Genome annotation databases
Ensembli | ENST00000369442.3; ENSP00000358450.3; ENSG00000196505.11 [Q9NXN4-2] ENST00000369443.10; ENSP00000358451.4; ENSG00000196505.11 |
GeneIDi | 54834 |
KEGGi | hsa:54834 |
MANE-Selecti | ENST00000369443.10; ENSP00000358451.4; NM_017686.4; NP_060156.1 |
UCSCi | uc001ehf.4, human [Q9NXN4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK000149 mRNA Translation: BAA90976.1 AL122007 Genomic DNA No translation available. AL121993 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56682.1 CH471122 Genomic DNA Translation: EAW56683.1 BC013132 mRNA Translation: AAH13132.1 |
CCDSi | CCDS44201.1 [Q9NXN4-2] CCDS897.1 [Q9NXN4-1] |
RefSeqi | NP_001129061.1, NM_001135589.2 [Q9NXN4-2] NP_060156.1, NM_017686.3 [Q9NXN4-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4UML | X-ray | 1.90 | A | 1-228 | [»] | |
AlphaFoldDBi | Q9NXN4 | |||||
SMRi | Q9NXN4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120187, 11 interactors |
IntActi | Q9NXN4, 5 interactors |
MINTi | Q9NXN4 |
STRINGi | 9606.ENSP00000358451 |
PTM databases
iPTMneti | Q9NXN4 |
PhosphoSitePlusi | Q9NXN4 |
Genetic variation databases
BioMutai | GDAP2 |
DMDMi | 74753050 |
Proteomic databases
EPDi | Q9NXN4 |
jPOSTi | Q9NXN4 |
MassIVEi | Q9NXN4 |
MaxQBi | Q9NXN4 |
PaxDbi | Q9NXN4 |
PeptideAtlasi | Q9NXN4 |
PRIDEi | Q9NXN4 |
ProteomicsDBi | 83115 [Q9NXN4-1] 83116 [Q9NXN4-2] |
Protocols and materials databases
Antibodypediai | 46950, 118 antibodies from 20 providers |
DNASUi | 54834 |
Genome annotation databases
Ensembli | ENST00000369442.3; ENSP00000358450.3; ENSG00000196505.11 [Q9NXN4-2] ENST00000369443.10; ENSP00000358451.4; ENSG00000196505.11 |
GeneIDi | 54834 |
KEGGi | hsa:54834 |
MANE-Selecti | ENST00000369443.10; ENSP00000358451.4; NM_017686.4; NP_060156.1 |
UCSCi | uc001ehf.4, human [Q9NXN4-1] |
Organism-specific databases
CTDi | 54834 |
DisGeNETi | 54834 |
GeneCardsi | GDAP2 |
HGNCi | HGNC:18010, GDAP2 |
HPAi | ENSG00000196505, Low tissue specificity |
MalaCardsi | GDAP2 |
MIMi | 618128, gene 618369, phenotype |
neXtProti | NX_Q9NXN4 |
OpenTargetsi | ENSG00000196505 |
PharmGKBi | PA28628 |
VEuPathDBi | HostDB:ENSG00000196505 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2633, Eukaryota |
GeneTreei | ENSGT00940000156336 |
HOGENOMi | CLU_026877_0_0_1 |
InParanoidi | Q9NXN4 |
OMAi | LYFPRDR |
OrthoDBi | 937161at2759 |
PhylomeDBi | Q9NXN4 |
TreeFami | TF324164 |
Enzyme and pathway databases
PathwayCommonsi | Q9NXN4 |
SignaLinki | Q9NXN4 |
Miscellaneous databases
BioGRID-ORCSi | 54834, 15 hits in 1077 CRISPR screens |
ChiTaRSi | GDAP2, human |
GenomeRNAii | 54834 |
Pharosi | Q9NXN4, Tbio |
PROi | PR:Q9NXN4 |
RNActi | Q9NXN4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196505, Expressed in caput epididymis and 197 other tissues |
Genevisiblei | Q9NXN4, HS |
Family and domain databases
CDDi | cd02905, Macro_GDAP2-like, 1 hit cd00170, SEC14, 1 hit |
Gene3Di | 3.40.220.10, 1 hit 3.40.525.10, 1 hit |
InterProi | View protein in InterPro IPR001251, CRAL-TRIO_dom IPR036865, CRAL-TRIO_dom_sf IPR002589, Macro_dom IPR043472, Macro_dom-like IPR035793, Macro_GDAP2 |
Pfami | View protein in Pfam PF13716, CRAL_TRIO_2, 1 hit PF01661, Macro, 1 hit |
SMARTi | View protein in SMART SM00506, A1pp, 1 hit SM00516, SEC14, 1 hit |
SUPFAMi | SSF52087, SSF52087, 1 hit SSF52949, SSF52949, 1 hit |
PROSITEi | View protein in PROSITE PS51154, MACRO, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GDAP2_HUMAN | |
Accessioni | Q9NXN4Primary (citable) accession number: Q9NXN4 Secondary accession number(s): Q96DZ0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 29, 2008 |
Last sequence update: | October 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families