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Entry version 157 (17 Jun 2020)
Sequence version 1 (01 Oct 2000)
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Protein

Ganglioside-induced differentiation-associated protein 2

Gene

GDAP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ganglioside-induced differentiation-associated protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GDAP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000196505.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18010 GDAP2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
618128 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NXN4

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 27 (SCAR27)1 Publication
The disease is caused by mutations 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082087316 – 497Missing in SCAR27. 1 PublicationAdd BLAST182

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MalaCards human disease database

More...
MalaCardsi
GDAP2
MIMi618369 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000196505

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28628

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NXN4 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GDAP2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74753050

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003313941 – 497Ganglioside-induced differentiation-associated protein 2Add BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei280PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NXN4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NXN4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NXN4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NXN4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NXN4

PeptideAtlas

More...
PeptideAtlasi
Q9NXN4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NXN4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83115 [Q9NXN4-1]
83116 [Q9NXN4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NXN4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NXN4

<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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000196505 Expressed in caput epididymis and 181 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NXN4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000196505 Low tissue specificity

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
120187, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NXN4, 4 interactors

Molecular INTeraction database

More...
MINTi
Q9NXN4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358451

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NXN4 protein

<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

1497
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NXN4

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini43 – 223MacroPROSITE-ProRule annotationAdd BLAST181
Domaini333 – 481CRAL-TRIOAdd BLAST149

<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

Belongs to the GDAP2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2633 Eukaryota
COG2110 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156336

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_026877_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NXN4

Identification of Orthologs from Complete Genome Data

More...
OMAi
FTAIPPE

Database of Orthologous Groups

More...
OrthoDBi
937161at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NXN4

TreeFam database of animal gene trees

More...
TreeFami
TF324164

Family and domain databases

Conserved Domains Database

More...
CDDi
cd02905 Macro_GDAP2_like, 1 hit
cd00170 SEC14, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.525.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00506 A1pp, 1 hit
SM00516 SEC14, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52087 SSF52087, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51154 MACRO, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NXN4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i96D8EF2AC79D5AEF
GO
Isoform 2 (identifier: Q9NXN4-2) [UniParc]FASTAAdd to basket

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

Show »
Length:496
Mass (Da):56,049
Checksum:i8AB17BFDD22F9263
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04284395P → R. Corresponds to variant dbSNP:rs12752437Ensembl.1
Natural variantiVAR_042844106G → S. Corresponds to variant dbSNP:rs12753610Ensembl.1
Natural variantiVAR_042845312Q → P. Corresponds to variant dbSNP:rs12145577Ensembl.1
Natural variantiVAR_082087316 – 497Missing in SCAR27. 1 PublicationAdd BLAST182
Natural variantiVAR_042846489T → A. Corresponds to variant dbSNP:rs34924570Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_033186483 – 497ENGPY…PSPDL → VRSTRSSPSPGMVY in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369442; ENSP00000358450; ENSG00000196505 [Q9NXN4-2]
ENST00000369443; ENSP00000358451; ENSG00000196505 [Q9NXN4-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54834

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54834

UCSC genome browser

More...
UCSCi
uc001ehf.4 human [Q9NXN4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

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
CCDSiCCDS44201.1 [Q9NXN4-2]
CCDS897.1 [Q9NXN4-1]
RefSeqiNP_001129061.1, NM_001135589.2 [Q9NXN4-2]
NP_060156.1, NM_017686.3 [Q9NXN4-1]

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 entryMethodResolution (Å)ChainPositionsPDBsum
4UMLX-ray1.90A1-228[»]
SMRiQ9NXN4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120187, 9 interactors
IntActiQ9NXN4, 4 interactors
MINTiQ9NXN4
STRINGi9606.ENSP00000358451

PTM databases

iPTMnetiQ9NXN4
PhosphoSitePlusiQ9NXN4

Polymorphism and mutation databases

BioMutaiGDAP2
DMDMi74753050

Proteomic databases

EPDiQ9NXN4
jPOSTiQ9NXN4
MassIVEiQ9NXN4
MaxQBiQ9NXN4
PaxDbiQ9NXN4
PeptideAtlasiQ9NXN4
PRIDEiQ9NXN4
ProteomicsDBi83115 [Q9NXN4-1]
83116 [Q9NXN4-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
46950 112 antibodies

Genome annotation databases

EnsembliENST00000369442; ENSP00000358450; ENSG00000196505 [Q9NXN4-2]
ENST00000369443; ENSP00000358451; ENSG00000196505 [Q9NXN4-1]
GeneIDi54834
KEGGihsa:54834
UCSCiuc001ehf.4 human [Q9NXN4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54834
EuPathDBiHostDB:ENSG00000196505.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GDAP2
HGNCiHGNC:18010 GDAP2
HPAiENSG00000196505 Low tissue specificity
MalaCardsiGDAP2
MIMi618128 gene
618369 phenotype
neXtProtiNX_Q9NXN4
OpenTargetsiENSG00000196505
PharmGKBiPA28628

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2633 Eukaryota
COG2110 LUCA
GeneTreeiENSGT00940000156336
HOGENOMiCLU_026877_0_0_1
InParanoidiQ9NXN4
OMAiFTAIPPE
OrthoDBi937161at2759
PhylomeDBiQ9NXN4
TreeFamiTF324164

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
54834 3 hits in 786 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GDAP2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
54834
PharosiQ9NXN4 Tbio

Protein Ontology

More...
PROi
PR:Q9NXN4
RNActiQ9NXN4 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196505 Expressed in caput epididymis and 181 other tissues
GenevisibleiQ9NXN4 HS

Family and domain databases

CDDicd02905 Macro_GDAP2_like, 1 hit
cd00170 SEC14, 1 hit
Gene3Di3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR002589 Macro_dom
IPR035793 Macro_GDAP2
PfamiView protein in Pfam
PF13716 CRAL_TRIO_2, 1 hit
PF01661 Macro, 1 hit
SMARTiView protein in SMART
SM00506 A1pp, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS51154 MACRO, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGDAP2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NXN4
Secondary accession number(s): Q96DZ0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 1, 2000
Last modified: June 17, 2020
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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