GDAP2

Functionⁱ

GO - Biological processⁱ

response to retinoic acid Source: Ensembl

View the complete GO annotation on QuickGO ...

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000196505.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:18010 GDAP2
neXtProtⁱ	NX_Q9NXN4

Subcellular locationⁱ

GO - Cellular component

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	54834
Open Targets More...OpenTargetsⁱ	ENSG00000196505
PharmGKBⁱ	PA28628

Polymorphism and mutation 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

Phosphoprotein

Proteomic databases

EPDⁱ	Q9NXN4
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9NXN4
PaxDbⁱ	Q9NXN4
PeptideAtlas More...PeptideAtlasⁱ	Q9NXN4
PRIDEⁱ	Q9NXN4
ProteomicsDBⁱ	83115 83116 [Q9NXN4-2]

PTM databases

iPTMnetⁱ	Q9NXN4
PhosphoSitePlusⁱ	Q9NXN4

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000196505
CleanExⁱ	HS_GDAP2
Genevisibleⁱ	Q9NXN4 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA046185

HPAⁱ

HPA046185

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
CEP76	Q8TAP6	3	EBI-10316460,EBI-742887

With

Entry

#Exp.

IntAct

Notes

CEP76

Q8TAP6

3

EBI-10316460,EBI-742887

Protein-protein interaction databases

BioGridⁱ	120187, 8 interactors
IntActⁱ	Q9NXN4, 3 interactors
STRINGⁱ	9606.ENSP00000358451

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	9 – 11	Combined sources	3
Helixⁱ	13 – 15	Combined sources	3
Turnⁱ	19 – 21	Combined sources	3
Helixⁱ	50 – 53	Combined sources	4
Beta strandⁱ	56 – 61	Combined sources	6
Helixⁱ	63 – 65	Combined sources	3
Beta strandⁱ	68 – 74	Combined sources	7
Helixⁱ	84 – 93	Combined sources	10
Helixⁱ	97 – 104	Combined sources	8
Beta strandⁱ	112 – 116	Combined sources	5
Beta strandⁱ	120 – 128	Combined sources	9
Helixⁱ	135 – 137	Combined sources	3
Helixⁱ	138 – 158	Combined sources	21
Beta strandⁱ	162 – 166	Combined sources	5
Helixⁱ	172 – 174	Combined sources	3
Helixⁱ	178 – 196	Combined sources	19
Helixⁱ	197 – 199	Combined sources	3
Beta strandⁱ	202 – 207	Combined sources	6
Helixⁱ	209 – 222	Combined sources	14

3D structure databases

ProteinModelPortalⁱ	Q9NXN4
SMRⁱ	Q9NXN4
ModBaseⁱ	Search...
MobiDBⁱ	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

Sequence similaritiesⁱ

Belongs to the GDAP2 family.Curated

Phylogenomic databases

eggNOGⁱ	KOG2633 Eukaryota COG2110 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00520000055566
HOGENOMⁱ	HOG000029893
HOVERGENⁱ	HBG097469
InParanoidⁱ	Q9NXN4
OMAⁱ	WFFTTFT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0FFV
PhylomeDBⁱ	Q9NXN4
TreeFamⁱ	TF324164

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd02905 Macro_GDAP2_like, 1 hit cd00170 SEC14, 1 hit
Gene3Dⁱ	3.40.525.10, 1 hit
InterProⁱ	View protein in InterPro IPR001251 CRAL-TRIO_dom IPR036865 CRAL-TRIO_dom_sf IPR002589 Macro_dom IPR035793 Macro_GDAP2
Pfam protein domain database More...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
PROSITEⁱ	View protein in PROSITE PS51154 MACRO, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q9NXN4-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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

Length:497

Mass (Da):56,225

Last modified:October 1, 2000 - v1

Checksum:ⁱ96D8EF2AC79D5AEF

GO

Isoform 2 (identifier: Q9NXN4-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
483-497: ENGPYYTSYPPSPDL → VRSTRSSPSPGMVY

« Hide

        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 ARVRSTRSSP SPGMVY

Show »

Length:496

Mass (Da):56,049

Checksum:ⁱ8AB17BFDD22F9263

GO

Natural variant

Feature key	Position(s)	DescriptionActions	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_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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS44201.1 [Q9NXN4-2] CCDS897.1 [Q9NXN4-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001129061.1, NM_001135589.2 [Q9NXN4-2] NP_060156.1, NM_017686.3 [Q9NXN4-1]
UniGeneⁱ	Hs.310809 Hs.594430 Hs.667170

Genome annotation databases

Ensemblⁱ	ENST00000369442; ENSP00000358450; ENSG00000196505 [Q9NXN4-2] ENST00000369443; ENSP00000358451; ENSG00000196505 [Q9NXN4-1]
GeneIDⁱ	54834
KEGGⁱ	hsa:54834
UCSC genome browser More...UCSCⁱ	uc001ehf.4 human [Q9NXN4-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Protein	Similar proteins		Species	Score	Length
Q9NXN4	UPI0005D00F8E		HUMAN		549
GDAP2 isoform 3		PANTR		531
UPI0004F1F50A		PAPAN		531
UPI000CEFE97D		PONAB		517
UPI0005405ADA		LOXAF		517
+129

Protein	Similar proteins		Species	Score	Length
Q9NXN4	UPI0005D00F8E		HUMAN		549
UPI0004F1F50A		PAPAN		531
GDAP2 isoform 3		PANTR		531
UPI0005405ADA		LOXAF		517
UPI000CEFE97D		PONAB		517
+260

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS44201.1 [Q9NXN4-2] CCDS897.1 [Q9NXN4-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001129061.1, NM_001135589.2 [Q9NXN4-2] NP_060156.1, NM_017686.3 [Q9NXN4-1]
UniGeneⁱ	Hs.310809 Hs.594430 Hs.667170

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4UML	X-ray	1.90	A	1-228	[»]
ProteinModelPortalⁱ	Q9NXN4
SMRⁱ	Q9NXN4
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	120187, 8 interactors
IntActⁱ	Q9NXN4, 3 interactors
STRINGⁱ	9606.ENSP00000358451

PTM databases

iPTMnetⁱ	Q9NXN4
PhosphoSitePlusⁱ	Q9NXN4

Polymorphism and mutation databases

BioMutaⁱ	GDAP2
DMDMⁱ	74753050

Proteomic databases

EPDⁱ	Q9NXN4
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9NXN4
PaxDbⁱ	Q9NXN4
PeptideAtlas More...PeptideAtlasⁱ	Q9NXN4
PRIDEⁱ	Q9NXN4
ProteomicsDBⁱ	83115 83116 [Q9NXN4-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000369442; ENSP00000358450; ENSG00000196505 [Q9NXN4-2] ENST00000369443; ENSP00000358451; ENSG00000196505 [Q9NXN4-1]
GeneIDⁱ	54834
KEGGⁱ	hsa:54834
UCSC genome browser More...UCSCⁱ	uc001ehf.4 human [Q9NXN4-1]

Organism-specific databases

CTDⁱ	54834
DisGeNET More...DisGeNETⁱ	54834
EuPathDBⁱ	HostDB:ENSG00000196505.10
GeneCardsⁱ	GDAP2
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:18010 GDAP2
Human Protein Atlas More...HPAⁱ	HPA046185
neXtProtⁱ	NX_Q9NXN4
Open Targets More...OpenTargetsⁱ	ENSG00000196505
PharmGKBⁱ	PA28628
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2633 Eukaryota COG2110 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00520000055566
HOGENOMⁱ	HOG000029893
HOVERGENⁱ	HBG097469
InParanoidⁱ	Q9NXN4
OMAⁱ	WFFTTFT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0FFV
PhylomeDBⁱ	Q9NXN4
TreeFamⁱ	TF324164

Miscellaneous databases

ChiTaRSⁱ	GDAP2 human
GenomeRNAiⁱ	54834
Protein Ontology More...PROⁱ	PR:Q9NXN4

Gene expression databases

Bgeeⁱ	ENSG00000196505
CleanExⁱ	HS_GDAP2
Genevisibleⁱ	Q9NXN4 HS

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd02905 Macro_GDAP2_like, 1 hit cd00170 SEC14, 1 hit
Gene3Dⁱ	3.40.525.10, 1 hit
InterProⁱ	View protein in InterPro IPR001251 CRAL-TRIO_dom IPR036865 CRAL-TRIO_dom_sf IPR002589 Macro_dom IPR035793 Macro_GDAP2
Pfam protein domain database More...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
PROSITEⁱ	View protein in PROSITE PS51154 MACRO, 1 hit
ProtoNetⁱ	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:	July 18, 2018
	This is version 144 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, Complete proteome, Reference proteome

Documents

Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

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UniProtKB - Q9NXN4 (GDAP2_HUMAN)

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Ganglioside-induced differentiation-associated protein 2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ