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Q8NHY3

- GA2L2_HUMAN

UniProt

Q8NHY3 - GA2L2_HUMAN

Protein

GAS2-like protein 2

Gene

GAS2L2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Seems to be involved in the cross-linking of microtubules and microfilaments.1 Publication

    GO - Molecular functioni

    1. actin filament binding Source: UniProtKB
    2. cytoskeletal adaptor activity Source: UniProtKB
    3. microtubule binding Source: UniProtKB

    GO - Biological processi

    1. cell cycle arrest Source: InterPro
    2. microtubule bundle formation Source: UniProtKB
    3. negative regulation of microtubule depolymerization Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GAS2-like protein 2
    Alternative name(s):
    GAS2-related protein on chromosome 17
    Growth arrest-specific protein 2-like 2
    Gene namesi
    Name:GAS2L2
    Synonyms:GAR17
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24846. GAS2L2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytoskeleton Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134986846.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 880880GAS2-like protein 2PRO_0000190444Add
    BLAST

    Proteomic databases

    PaxDbiQ8NHY3.
    PRIDEiQ8NHY3.

    PTM databases

    PhosphoSiteiQ8NHY3.

    Expressioni

    Tissue specificityi

    Expressed in skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ8NHY3.
    BgeeiQ8NHY3.
    CleanExiHS_GAS2L2.
    GenevestigatoriQ8NHY3.

    Organism-specific databases

    HPAiHPA044370.

    Interactioni

    Protein-protein interaction databases

    BioGridi128874. 2 interactions.
    IntActiQ8NHY3. 1 interaction.
    MINTiMINT-7969555.
    STRINGi9606.ENSP00000254466.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NHY3.
    SMRiQ8NHY3. Positions 27-162, 217-290.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini32 – 158127CHPROSITE-ProRule annotationAdd
    BLAST
    Domaini201 – 27373GARPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the GAS2 family.Curated
    Contains 1 CH (calponin-homology) domain.PROSITE-ProRule annotation
    Contains 1 GAR domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG322939.
    HOGENOMiHOG000090245.
    HOVERGENiHBG081544.
    InParanoidiQ8NHY3.
    OMAiTMTISRS.
    OrthoDBiEOG7VTDR1.
    PhylomeDBiQ8NHY3.
    TreeFamiTF323754.

    Family and domain databases

    Gene3Di1.10.418.10. 1 hit.
    3.30.920.20. 1 hit.
    InterProiIPR001715. CH-domain.
    IPR003108. GAS2_dom.
    [Graphical view]
    PfamiPF00307. CH. 1 hit.
    PF02187. GAS2. 1 hit.
    [Graphical view]
    SMARTiSM00033. CH. 1 hit.
    [Graphical view]
    SUPFAMiSSF143575. SSF143575. 1 hit.
    SSF47576. SSF47576. 1 hit.
    PROSITEiPS50021. CH. 1 hit.
    PS51460. GAR. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NHY3-1) [UniParc]FASTAAdd to Basket

    Also known as: Beta

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

    « Hide

    MSQPAGGRRK PRTLGPPVCS IRPFKSSEQY LEAMKEDLAE WLRDLYGLDI    50
    DAANFLQVLE TGLVLCQHAN VVTDAALAFL AEAPAQAQKI PMPRVGVSCN 100
    GAAQPGTFQA RDNVSNFIQW CRKEMGIQEV LMFETEDLVL RKNVKNVVLC 150
    LLELGRRAWR FGVAAPTLVQ LEEEIEEEVR RELALPPPDP SPPAPPRRQP 200
    CHFRNLDQMV QSLVSHCTCP VQFSMVKVSE GKYRVGDSNT LIFIRILRNH 250
    VMVRVGGGWD TLGHYLDKHD PCRCTSLSHK PGSFLKPPAP PVQHEVRVQD 300
    GPSQTQPTMT ISRSQSPPPP VDWKTYTSSD RRLRPPTPSS PRPRRERGAG 350
    TGASREMAPF LRCQERSLIP SWRQPTAGDS PPSPQSSSTQ KGRDPQCTSS 400
    GKREERYPPE LPRGRIPTSW VHEETDSWGT DAGNPTPQRL RAIEATTKGI 450
    SARGPSPLPR SFGPAECLGL RLPLRDEAKG AFFQFREPES VRSPTPVQGL 500
    TKIPIRLPPA RPPTPGRSFP GATSGSPRTE LGRDPIPLRA VTVDLAGSTH 550
    GDCSVEVRQE DQQLDIQVMA EARESWDLGL QEQEGRYTPL PLGGNKEQAI 600
    YCSLEEEILG NMKLLEVRSA CPQGTRSGVI PRSGVYIPRL AGQWPEPGGP 650
    YDKAIQELAQ GSPSLLKVDL EAWKAAPTGS PKPAVTPGPG SLKGKLGARQ 700
    SGPRTKASLS AKGTHMRKVP PQGGQDCSAS TVSASPEAPT PSPLDPNSDK 750
    AKACLSKGRR TLRKPKRVPS IYKLKLRPRI RPRRDHRPEK QPSRIPRPLA 800
    YVFLGPARQP PKDRLLRAVL GSKGGEASRV DGASVGEEEE EGKEEKEPAA 850
    PLESSPQPPE GLQPHWLNQA PLPPEEESWV 880
    Length:880
    Mass (Da):96,520
    Last modified:October 1, 2002 - v1
    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

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti164 – 1641A → V.
    Corresponds to variant rs11654604 [ dbSNP | Ensembl ].
    VAR_059975
    Natural varianti540 – 5401A → T.
    Corresponds to variant rs12602590 [ dbSNP | Ensembl ].
    VAR_053100
    Natural varianti654 – 6541A → V.
    Corresponds to variant rs3744374 [ dbSNP | Ensembl ].
    VAR_053101
    Natural varianti829 – 8291R → W.
    Corresponds to variant rs56386706 [ dbSNP | Ensembl ].
    VAR_062004

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei187 – 21327PPDPS…MVQSL → LPQPGPDGAEPCEPLHVPSA VLHGQSV in isoform 2. 1 PublicationVSP_015497Add
    BLAST
    Alternative sequencei214 – 800587Missing in isoform 2. 1 PublicationVSP_015498Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF508785 mRNA. Translation: AAM34265.1.
    AF508784 mRNA. Translation: AAM34264.1.
    CCDSiCCDS11298.1. [Q8NHY3-1]
    RefSeqiNP_644814.1. NM_139285.3. [Q8NHY3-1]
    UniGeneiHs.591194.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi73919614.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF508785 mRNA. Translation: AAM34265.1 .
    AF508784 mRNA. Translation: AAM34264.1 .
    CCDSi CCDS11298.1. [Q8NHY3-1 ]
    RefSeqi NP_644814.1. NM_139285.3. [Q8NHY3-1 ]
    UniGenei Hs.591194.

    3D structure databases

    ProteinModelPortali Q8NHY3.
    SMRi Q8NHY3. Positions 27-162, 217-290.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128874. 2 interactions.
    IntActi Q8NHY3. 1 interaction.
    MINTi MINT-7969555.
    STRINGi 9606.ENSP00000254466.

    PTM databases

    PhosphoSitei Q8NHY3.

    Polymorphism databases

    DMDMi 73919614.

    Proteomic databases

    PaxDbi Q8NHY3.
    PRIDEi Q8NHY3.

    Protocols and materials databases

    DNASUi 246176.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000604641 ; ENSP00000474529 ; ENSG00000270765 . [Q8NHY3-1 ]
    GeneIDi 246176.
    KEGGi hsa:246176.
    UCSCi uc002hjv.2. human. [Q8NHY3-1 ]

    Organism-specific databases

    CTDi 246176.
    GeneCardsi GC17M034071.
    HGNCi HGNC:24846. GAS2L2.
    HPAi HPA044370.
    MIMi 611398. gene.
    neXtProti NX_Q8NHY3.
    PharmGKBi PA134986846.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG322939.
    HOGENOMi HOG000090245.
    HOVERGENi HBG081544.
    InParanoidi Q8NHY3.
    OMAi TMTISRS.
    OrthoDBi EOG7VTDR1.
    PhylomeDBi Q8NHY3.
    TreeFami TF323754.

    Miscellaneous databases

    GenomeRNAii 246176.
    NextBioi 91874.
    PROi Q8NHY3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NHY3.
    Bgeei Q8NHY3.
    CleanExi HS_GAS2L2.
    Genevestigatori Q8NHY3.

    Family and domain databases

    Gene3Di 1.10.418.10. 1 hit.
    3.30.920.20. 1 hit.
    InterProi IPR001715. CH-domain.
    IPR003108. GAS2_dom.
    [Graphical view ]
    Pfami PF00307. CH. 1 hit.
    PF02187. GAS2. 1 hit.
    [Graphical view ]
    SMARTi SM00033. CH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF143575. SSF143575. 1 hit.
    SSF47576. SSF47576. 1 hit.
    PROSITEi PS50021. CH. 1 hit.
    PS51460. GAR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules."
      Goriounov D., Leung C.L., Liem R.K.
      J. Cell Sci. 116:1045-1058(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiGA2L2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NHY3
    Secondary accession number(s): Q8NHY4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 85 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3