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UniProtKB - Q9NXN4 (GDAP2_HUMAN)

Entry version 159 (02 Dec 2020)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NXN4

<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 and Host 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

DisGeNET

More...DisGeNETi		54834

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 196 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">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

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		3.40.220.10, 1 hit
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
IPR043472, Macro_dom-like
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
SSF52949, SSF52949, 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

More...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
DisGeNETi54834
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
GeneTreeiENSGT00940000156336
HOGENOMiCLU_026877_0_0_1
InParanoidiQ9NXN4
OMAiFTAIPPE
OrthoDBi937161at2759
PhylomeDBiQ9NXN4
TreeFamiTF324164

Enzyme and pathway databases

PathwayCommonsiQ9NXN4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54834, 7 hits in 842 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 196 other tissues
GenevisibleiQ9NXN4, HS

Family and domain databases

CDDicd02905, Macro_GDAP2_like, 1 hit
cd00170, SEC14, 1 hit
Gene3Di3.40.220.10, 1 hit
3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR001251, CRAL-TRIO_dom
IPR036865, CRAL-TRIO_dom_sf
IPR002589, Macro_dom
IPR043472, Macro_dom-like
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
SSF52949, SSF52949, 1 hit
PROSITEiView protein in PROSITE
PS51154, MACRO, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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: December 2, 2020
This is version 159 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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