Q8NHY3 (GA2L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GAS2-like protein 2

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

Gene names

Name:	GAS2L2
Synonyms:	GAR17

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	880 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Seems to be involved in the cross-linking of microtubules and microfilaments. Ref.1
Subcellular location	Cytoplasm › cytoskeleton Probable.
Tissue specificity	Expressed in skeletal muscle. Ref.1
Sequence similarities	Belongs to the GAS2 family. Contains 1 CH (calponin-homology) domain. Contains 1 GAR domain.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle arrest Inferred from electronic annotation. Source: InterPro microtubule bundle formation Inferred from mutant phenotype Ref.1. Source: UniProtKB negative regulation of microtubule depolymerization Inferred from mutant phenotype Ref.1. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay Ref.1. Source: UniProtKB cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	actin filament binding Inferred from direct assay Ref.1. Source: UniProtKB cytoskeletal adaptor activity Inferred from direct assay Ref.1. Source: UniProtKB microtubule binding Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NHY3-1)

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.

Isoform 2 (identifier: Q8NHY3-2)

Also known as: Alpha;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 880	880	GAS2-like protein 2		PRO_0000190444
Regions
	Domain	32 – 158	127	CH
	Domain	201 – 273	73	GAR
Natural variations
	Alternative sequence	187 – 213	27	PPDPS…MVQSL → LPQPGPDGAEPCEPLHVPSA VLHGQSV in isoform 2.		VSP_015497
	Alternative sequence	214 – 800	587	Missing in isoform 2.		VSP_015498
	Natural variant	164	1	A → V. Corresponds to variant rs11654604 [ dbSNP | Ensembl ].		VAR_059975
	Natural variant	540	1	A → T. Corresponds to variant rs12602590 [ dbSNP | Ensembl ].		VAR_053100
	Natural variant	654	1	A → V. Corresponds to variant rs3744374 [ dbSNP | Ensembl ].		VAR_053101
	Natural variant	829	1	R → W. Corresponds to variant rs56386706 [ dbSNP | Ensembl ].		VAR_062004

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Beta) [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 2AFCD96EE7F4AB22	FASTA	880	96,520
	10 20 30 40 50 60 MSQPAGGRRK PRTLGPPVCS IRPFKSSEQY LEAMKEDLAE WLRDLYGLDI DAANFLQVLE 70 80 90 100 110 120 TGLVLCQHAN VVTDAALAFL AEAPAQAQKI PMPRVGVSCN GAAQPGTFQA RDNVSNFIQW 130 140 150 160 170 180 CRKEMGIQEV LMFETEDLVL RKNVKNVVLC LLELGRRAWR FGVAAPTLVQ LEEEIEEEVR 190 200 210 220 230 240 RELALPPPDP SPPAPPRRQP CHFRNLDQMV QSLVSHCTCP VQFSMVKVSE GKYRVGDSNT 250 260 270 280 290 300 LIFIRILRNH VMVRVGGGWD TLGHYLDKHD PCRCTSLSHK PGSFLKPPAP PVQHEVRVQD 310 320 330 340 350 360 GPSQTQPTMT ISRSQSPPPP VDWKTYTSSD RRLRPPTPSS PRPRRERGAG TGASREMAPF 370 380 390 400 410 420 LRCQERSLIP SWRQPTAGDS PPSPQSSSTQ KGRDPQCTSS GKREERYPPE LPRGRIPTSW 430 440 450 460 470 480 VHEETDSWGT DAGNPTPQRL RAIEATTKGI SARGPSPLPR SFGPAECLGL RLPLRDEAKG 490 500 510 520 530 540 AFFQFREPES VRSPTPVQGL TKIPIRLPPA RPPTPGRSFP GATSGSPRTE LGRDPIPLRA 550 560 570 580 590 600 VTVDLAGSTH GDCSVEVRQE DQQLDIQVMA EARESWDLGL QEQEGRYTPL PLGGNKEQAI 610 620 630 640 650 660 YCSLEEEILG NMKLLEVRSA CPQGTRSGVI PRSGVYIPRL AGQWPEPGGP YDKAIQELAQ 670 680 690 700 710 720 GSPSLLKVDL EAWKAAPTGS PKPAVTPGPG SLKGKLGARQ SGPRTKASLS AKGTHMRKVP 730 740 750 760 770 780 PQGGQDCSAS TVSASPEAPT PSPLDPNSDK AKACLSKGRR TLRKPKRVPS IYKLKLRPRI 790 800 810 820 830 840 RPRRDHRPEK QPSRIPRPLA YVFLGPARQP PKDRLLRAVL GSKGGEASRV DGASVGEEEE 850 860 870 880 EGKEEKEPAA PLESSPQPPE GLQPHWLNQA PLPPEEESWV
	Isoform 2 (Alpha) [UniParc]. Checksum: 06BF535EA01A1EC4	FASTA	293	32,157
	10 20 30 40 50 60 MSQPAGGRRK PRTLGPPVCS IRPFKSSEQY LEAMKEDLAE WLRDLYGLDI DAANFLQVLE 70 80 90 100 110 120 TGLVLCQHAN VVTDAALAFL AEAPAQAQKI PMPRVGVSCN GAAQPGTFQA RDNVSNFIQW 130 140 150 160 170 180 CRKEMGIQEV LMFETEDLVL RKNVKNVVLC LLELGRRAWR FGVAAPTLVQ LEEEIEEEVR 190 200 210 220 230 240 RELALPLPQP GPDGAEPCEP LHVPSAVLHG QSVYVFLGPA RQPPKDRLLR AVLGSKGGEA 250 260 270 280 290 SRVDGASVGE EEEEGKEEKE PAAPLESSPQ PPEGLQPHWL NQAPLPPEEE SWV

References

[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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF508785 mRNA. Translation: AAM34265.1. AF508784 mRNA. Translation: AAM34264.1.
IPI	IPI00169377. IPI00872449.
RefSeq	NP_644814.1. NM_139285.3.
UniGene	Hs.591194.
3D structure databases
ProteinModelPortal	Q8NHY3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000254466.
PTM databases
PhosphoSite	Q8NHY3.
Polymorphism databases
DMDM	73919614.
Proteomic databases
PaxDb	Q8NHY3.
PRIDE	Q8NHY3.
Protocols and materials databases
DNASU	246176.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000254466; ENSP00000254466; ENSG00000132139.
GeneID	246176.
KEGG	hsa:246176.
UCSC	uc002hjv.2. human.
Organism-specific databases
CTD	246176.
GeneCards	GC17M034071.
HGNC	HGNC:24846. GAS2L2.
MIM	611398. gene.
neXtProt	NX_Q8NHY3.
PharmGKB	PA134986846.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG322939.
HOGENOM	HOG000090245.
HOVERGEN	HBG081544.
InParanoid	Q8NHY3.
OMA	IRPRRDH.
OrthoDB	EOG4V170H.
PhylomeDB	Q8NHY3.
Gene expression databases
Bgee	Q8NHY3.
CleanEx	HS_GAS2L2.
Genevestigator	Q8NHY3.
GermOnline	ENSG00000132139. Homo sapiens.
Family and domain databases
Gene3D	1.10.418.10. 1 hit. 3.30.920.20. 1 hit.
InterPro	IPR001715. CH-domain. IPR003108. GAS2_dom. [Graphical view]
Pfam	PF00307. CH. 1 hit. PF02187. GAS2. 1 hit. [Graphical view]
SMART	SM00033. CH. 1 hit. [Graphical view]
SUPFAM	SSF47576. Calponin-homology. 1 hit. SSF143575. SSF143575. 1 hit.
PROSITE	PS50021. CH. 1 hit. PS51460. GAR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	246176.
NextBio	91874.
SOURCE	Search...

Entry information

Entry name

GA2L2_HUMAN

Accession

Primary (citable) accession number: Q8NHY3
Secondary accession number(s): Q8NHY4

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.