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Q8NHY3

- GA2L2_HUMAN

UniProt

Q8NHY3 - GA2L2_HUMAN

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Protein

GAS2-like protein 2

Gene

GAS2L2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

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

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 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.
GeneTreeiENSGT00390000002205.
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

        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
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]
ENST00000618498; ENSP00000480457; ENSG00000270765.
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 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 ]
ENST00000618498 ; ENSP00000480457 ; ENSG00000270765 .
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.
GeneTreei ENSGT00390000002205.
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

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 29, 2014
This is version 86 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