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UniProtKB - Q8NHY3 (GA2L2_HUMAN)

Entry version 129 (07 Oct 2020)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
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Protein

GAS2-like protein 2

Gene

GAS2L2

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

Annotation score:5 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

Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway (PubMed:30665704).By similarity3 Publications

<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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NHY3

<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:
GAS2-like protein 2
Alternative name(s):
GAS2-related protein on chromosome 17
Growth arrest-specific protein 2-like 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:GAS2L2
Synonyms:GAR17
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000270765.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:24846, GAS2L2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611398, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NHY3

<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>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 - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

<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

Ciliary dyskinesia, primary, 41 (CILD41)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Absence of GAS2L2 results in ciliary orientation defect and affects performance of cilia.1 Publication
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi369 – 370IP → NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 458-N--N-459, 503-N-N-504; 590-N-N-591 and 795-N-N-796. 1 Publication2
Mutagenesisi458 – 459LP → NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N--N-370; 503-N-N-504; 590-N-N-591 and 795-N-N-796. 1 Publication2
Mutagenesisi503 – 504IP → NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N-N-370; 458-N-N-459; 590-N-N-591 and 795-N-N-796. 1 Publication2
Mutagenesisi590 – 591LP → NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N-N-370; 458-N-N-459; 503-N-N-504 and 795-N-N-796. 1 Publication2
Mutagenesisi795 – 796IP → NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N-N-370; 458-N-N-459; 503-N-N-504 and 590-N-N-591. 1 Publication2

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...DisGeNETi		246176

MalaCards human disease database

More...MalaCardsi		GAS2L2
MIMi618449, phenotype

Open Targets

More...OpenTargetsi		ENSG00000270765

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		244, Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134986846

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NHY3, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GAS2L2

Domain mapping of disease mutations (DMDM)

More...DMDMi		73919614

<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_00001904441 – 880GAS2-like protein 2Add BLAST880

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NHY3

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

More...PaxDbi		Q8NHY3

PeptideAtlas

More...PeptideAtlasi		Q8NHY3

PRoteomics IDEntifications database

More...PRIDEi		Q8NHY3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73788 [Q8NHY3-1]
73789 [Q8NHY3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NHY3

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

More...PhosphoSitePlusi		Q8NHY3

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in bronchial and nasal epithelial cells (at protein level) (PubMed:30665704). Expressed in brain, kidney, lung, testis, fallopian tubes, and skeletal muscle (PubMed:12584248, PubMed:30665704). Expressed at low levels in stomach and colon (PubMed:30665704).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000270765, Expressed in right uterine tube and 72 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NHY3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NHY3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000270765, Tissue enhanced (epididymis, fallopian tube)

<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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ADORA2A (via its cytoplasmic C-terminal domain) (By similarity).

Interacts with GNAS, GNAL, GNAQ, and GNA13 (PubMed:23994616).

Interacts with MAPRE1 (PubMed:24706950).

By similarity2 Publications

<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

Hide details
Q8NHY3
With#Exp.IntAct
ABI2 - isoform 2 [Q9NYB9-2]3EBI-7960826,EBI-11096309
BANP - isoform 2 [Q8N9N5-2]3EBI-7960826,EBI-11524452
CASQ1 [P31415]3EBI-7960826,EBI-14017981
CCDC120 [Q96HB5]3EBI-7960826,EBI-744556
CCNDBP1 [O95273]3EBI-7960826,EBI-748961
DISC1 - isoform 2 [Q9NRI5-2]3EBI-7960826,EBI-11988027
DNAAF6 [Q9NQM4]4EBI-7960826,EBI-10239299
EFHC1 [Q5JVL4]3EBI-7960826,EBI-743105
FXR1 - isoform 2 [P51114-2]3EBI-7960826,EBI-11022345
GOLGA2 [Q08379]3EBI-7960826,EBI-618309
GOLGA6L9 [A6NEM1]3EBI-7960826,EBI-5916454
HMBOX1 [Q6NT76]3EBI-7960826,EBI-2549423
HOOK2 - isoform 2 [Q96ED9-2]3EBI-7960826,EBI-10961706
HSF2BP [O75031]3EBI-7960826,EBI-7116203
JADE2 [A0A0C4DFT8]3EBI-7960826,EBI-12094820
KANK2 [Q63ZY3]3EBI-7960826,EBI-2556193
KCTD7 - isoform 2 [Q96MP8-2]3EBI-7960826,EBI-11954971
LHX3 - isoform B [Q9UBR4-2]5EBI-7960826,EBI-12039345
LRP2BP [Q9P2M1]3EBI-7960826,EBI-18273118
LTV1 [Q96GA3]3EBI-7960826,EBI-2558389
MAPRE1 [Q15691]3EBI-7960826,EBI-1004115
MAPRE2 [Q15555]3EBI-7960826,EBI-739717
MAPRE3 [Q9UPY8]3EBI-7960826,EBI-726739
MID2 - isoform 2 [Q9UJV3-2]3EBI-7960826,EBI-10172526
MORN5 [Q5VZ52]3EBI-7960826,EBI-12835568
MTUS2 - isoform 2 [Q5JR59-3]3EBI-7960826,EBI-11522433
NAP1L1 [P55209]3EBI-7960826,EBI-356392
PAX6 [P26367]3EBI-7960826,EBI-747278
PICK1 [Q9NRD5]3EBI-7960826,EBI-79165
PPP1R13B [Q96KQ4]3EBI-7960826,EBI-1105153
PRKAR1B [P31321]3EBI-7960826,EBI-2805516
RORB - isoform 1 [Q92753-1]3EBI-7960826,EBI-18560266
SAT1 [P21673]3EBI-7960826,EBI-711613
SNW1 [Q13573]3EBI-7960826,EBI-632715
SOCS7 [O14512]3EBI-7960826,EBI-1539606
TFIP11 [Q9UBB9]3EBI-7960826,EBI-1105213
TRAF2 [Q12933]3EBI-7960826,EBI-355744
TRIM27 [P14373]3EBI-7960826,EBI-719493
WWP2 [O00308]3EBI-7960826,EBI-743923
ZRANB1 [Q9UGI0]3EBI-7960826,EBI-527853

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128874, 37 interactors

Protein interaction database and analysis system

More...IntActi		Q8NHY3, 42 interactors

Molecular INTeraction database

More...MINTi		Q8NHY3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000474529

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NHY3, protein

<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>Domaini32 – 159Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST128
Domaini201 – 273GARPROSITE-ProRule annotationAdd BLAST73

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni438 – 880Interaction with ADORA2ABy similarityAdd BLAST443

<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 GAS2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0516, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162866

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NHY3

Identification of Orthologs from Complete Genome Data

More...OMAi		QPCHFRN

Database of Orthologous Groups

More...OrthoDBi		1343422at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NHY3

TreeFam database of animal gene trees

More...TreeFami		TF323754

Family and domain databases

Conserved Domains Database

More...CDDi		cd00014, CH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.418.10, 1 hit
3.30.920.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR003108, GAR_dom
IPR036534, GAR_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00307, CH, 1 hit
PF02187, GAS2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00033, CH, 1 hit
SM00243, GAS2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF143575, SSF143575, 1 hit
SSF47576, SSF47576, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50021, CH, 1 hit
PS51460, GAR, 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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NHY3-1) [UniParc]FASTAAdd to basket
Also known as: Beta

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
MSQPAGGRRK PRTLGPPVCS IRPFKSSEQY LEAMKEDLAE WLRDLYGLDI 
        60         70         80         90        100
DAANFLQVLE TGLVLCQHAN VVTDAALAFL AEAPAQAQKI PMPRVGVSCN 
       110        120        130        140        150
GAAQPGTFQA RDNVSNFIQW CRKEMGIQEV LMFETEDLVL RKNVKNVVLC 
       160        170        180        190        200
LLELGRRAWR FGVAAPTLVQ LEEEIEEEVR RELALPPPDP SPPAPPRRQP 
       210        220        230        240        250
CHFRNLDQMV QSLVSHCTCP VQFSMVKVSE GKYRVGDSNT LIFIRILRNH 
       260        270        280        290        300
VMVRVGGGWD TLGHYLDKHD PCRCTSLSHK PGSFLKPPAP PVQHEVRVQD 
       310        320        330        340        350
GPSQTQPTMT ISRSQSPPPP VDWKTYTSSD RRLRPPTPSS PRPRRERGAG 
       360        370        380        390        400
TGASREMAPF LRCQERSLIP SWRQPTAGDS PPSPQSSSTQ KGRDPQCTSS 
       410        420        430        440        450
GKREERYPPE LPRGRIPTSW VHEETDSWGT DAGNPTPQRL RAIEATTKGI 
       460        470        480        490        500
SARGPSPLPR SFGPAECLGL RLPLRDEAKG AFFQFREPES VRSPTPVQGL 
       510        520        530        540        550
TKIPIRLPPA RPPTPGRSFP GATSGSPRTE LGRDPIPLRA VTVDLAGSTH 
       560        570        580        590        600
GDCSVEVRQE DQQLDIQVMA EARESWDLGL QEQEGRYTPL PLGGNKEQAI 
       610        620        630        640        650
YCSLEEEILG NMKLLEVRSA CPQGTRSGVI PRSGVYIPRL AGQWPEPGGP 
       660        670        680        690        700
YDKAIQELAQ GSPSLLKVDL EAWKAAPTGS PKPAVTPGPG SLKGKLGARQ 
       710        720        730        740        750
SGPRTKASLS AKGTHMRKVP PQGGQDCSAS TVSASPEAPT PSPLDPNSDK 
       760        770        780        790        800
AKACLSKGRR TLRKPKRVPS IYKLKLRPRI RPRRDHRPEK QPSRIPRPLA 
       810        820        830        840        850
YVFLGPARQP PKDRLLRAVL GSKGGEASRV DGASVGEEEE EGKEEKEPAA 
       860        870        880
PLESSPQPPE GLQPHWLNQA PLPPEEESWV
Length:880
Mass (Da):96,520
Last modified:October 1, 2002 - 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:i2AFCD96EE7F4AB22
GO
Isoform 2 (identifier: Q8NHY3-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     187-213: PPDPSPPAPPRRQPCHFRNLDQMVQSL → LPQPGPDGAEPCEPLHVPSAVLHGQSV
     214-800: Missing.

Show »
Length:293
Mass (Da):32,157
Checksum:i06BF535EA01A1EC4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B7B7A0A075B7B7_HUMAN
GAS2-like protein 2
GAS2L2
864Annotation score:

Annotation score:1 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>
A0A0C4DGV2A0A0C4DGV2_HUMAN
GAS2-like protein 2
GAS2L2
213Annotation score:

Annotation score:1 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>

Natural variant

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_059975164A → V. Corresponds to variant dbSNP:rs11654604Ensembl.1
Natural variantiVAR_053100540A → T. Corresponds to variant dbSNP:rs12602590Ensembl.1
Natural variantiVAR_053101654A → V. Corresponds to variant dbSNP:rs3744374Ensembl.1
Natural variantiVAR_062004829R → W. Corresponds to variant dbSNP:rs56386706Ensembl.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_015497187 – 213PPDPS…MVQSL → LPQPGPDGAEPCEPLHVPSA VLHGQSV in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_015498214 – 800Missing in isoform 2. 1 PublicationAdd BLAST587

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
AF508785 mRNA Translation: AAM34265.1
AF508784 mRNA Translation: AAM34264.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11298.1 [Q8NHY3-1]

NCBI Reference Sequences

More...RefSeqi		NP_644814.1, NM_139285.3 [Q8NHY3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000604641; ENSP00000474529; ENSG00000270765 [Q8NHY3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		246176

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:246176

UCSC genome browser

More...UCSCi		uc002hjv.2, human [Q8NHY3-1]

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
AF508785 mRNA Translation: AAM34265.1
AF508784 mRNA Translation: AAM34264.1
CCDSiCCDS11298.1 [Q8NHY3-1]
RefSeqiNP_644814.1, NM_139285.3 [Q8NHY3-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi128874, 37 interactors
IntActiQ8NHY3, 42 interactors
MINTiQ8NHY3
STRINGi9606.ENSP00000474529

PTM databases

iPTMnetiQ8NHY3
PhosphoSitePlusiQ8NHY3

Polymorphism and mutation databases

BioMutaiGAS2L2
DMDMi73919614

Proteomic databases

EPDiQ8NHY3
PaxDbiQ8NHY3
PeptideAtlasiQ8NHY3
PRIDEiQ8NHY3
ProteomicsDBi73788 [Q8NHY3-1]
73789 [Q8NHY3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		73370, 72 antibodies

The DNASU plasmid repository

More...DNASUi		246176

Genome annotation databases

EnsembliENST00000604641; ENSP00000474529; ENSG00000270765 [Q8NHY3-1]
GeneIDi246176
KEGGihsa:246176
UCSCiuc002hjv.2, human [Q8NHY3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		246176
DisGeNETi246176
EuPathDBiHostDB:ENSG00000270765.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		GAS2L2
HGNCiHGNC:24846, GAS2L2
HPAiENSG00000270765, Tissue enhanced (epididymis, fallopian tube)
MalaCardsiGAS2L2
MIMi611398, gene
618449, phenotype
neXtProtiNX_Q8NHY3
OpenTargetsiENSG00000270765
Orphaneti244, Primary ciliary dyskinesia
PharmGKBiPA134986846

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0516, Eukaryota
GeneTreeiENSGT00940000162866
InParanoidiQ8NHY3
OMAiQPCHFRN
OrthoDBi1343422at2759
PhylomeDBiQ8NHY3
TreeFamiTF323754

Enzyme and pathway databases

PathwayCommonsiQ8NHY3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		246176, 25 hits in 873 CRISPR screens

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

More...ChiTaRSi		GAS2L2, human

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

More...GenomeRNAii		246176
PharosiQ8NHY3, Tdark

Protein Ontology

More...PROi		PR:Q8NHY3
RNActiQ8NHY3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000270765, Expressed in right uterine tube and 72 other tissues
ExpressionAtlasiQ8NHY3, baseline and differential
GenevisibleiQ8NHY3, HS

Family and domain databases

CDDicd00014, CH, 1 hit
Gene3Di1.10.418.10, 1 hit
3.30.920.20, 1 hit
InterProiView protein in InterPro
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR003108, GAR_dom
IPR036534, GAR_dom_sf
PfamiView protein in Pfam
PF00307, CH, 1 hit
PF02187, GAS2, 1 hit
SMARTiView protein in SMART
SM00033, CH, 1 hit
SM00243, GAS2, 1 hit
SUPFAMiSSF143575, SSF143575, 1 hit
SSF47576, SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS50021, CH, 1 hit
PS51460, GAR, 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 nameiGA2L2_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: Q8NHY3
Secondary accession number(s): Q8NHY4
<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: August 30, 2005
Last sequence update: October 1, 2002
Last modified: October 7, 2020
This is version 129 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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