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    GAS2L3 growth arrest specific 2 like 3 [ Homo sapiens (human) ]

    Gene ID: 283431, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GAS2L3provided by HGNC
    Official Full Name
    growth arrest specific 2 like 3provided by HGNC
    Primary source
    HGNC:HGNC:27475
    See related
    Ensembl:ENSG00000139354 MIM:617224; AllianceGenome:HGNC:27475
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G2L3
    Summary
    Enables actin binding activity and microtubule binding activity. Involved in actin cytoskeleton organization and microtubule cytoskeleton organization. Located in actin cytoskeleton and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in gall bladder (RPKM 2.2), colon (RPKM 1.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GAS2L3 in Genome Data Viewer
    Location:
    12q23.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (100573684..100628288)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (100535086..100589688)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (100967462..101022066)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene solute carrier family 17 member 8 Neighboring gene MPRA-validated peak1912 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22518 Neighboring gene MPRA-validated peak1913 silencer Neighboring gene nuclear receptor subfamily 1 group H member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6860 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:101055348-101055876 Neighboring gene anoctamin 4 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:101380545-101381070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:101382123-101382646 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:101411804-101413003 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:101495121-101495326 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22530 Neighboring gene sorting nexin 5 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:101588413-101588600 Neighboring gene solute carrier family 5 member 8 Neighboring gene RNA, U6 small nuclear 768, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GAS2L3, a target gene of the DREAM complex, is required for proper cytokinesis and genomic stability. Wolter P, et al. J Cell Sci, 2012 May 15. PMID 22344256
    2. Characterization of G2L3 (GAS2-like 3), a new microtubule- and actin-binding protein related to spectraplakins. Stroud MJ, et al. J Biol Chem, 2011 Jul 15. PMID 21561867, Free PMC Article
    3. Gas2l3, a novel constriction site-associated protein whose regulation is mediated by the APC/C Cdh1 complex. Pe'er T, et al. PLoS One, 2013. PMID 23469016, Free PMC Article
    4. Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. Dong J, et al. PLoS Genet, 2013. PMID 23341777, Free PMC Article
    5. GAS2-like proteins mediate communication between microtubules and actin through interactions with end-binding proteins. Stroud MJ, et al. J Cell Sci, 2014 Jun 15. PMID 24706950, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. show that the GAR domain of GAS2L3 is required for localization of GAS2L3 to the constriction zone
      Title: The GAR domain of GAS2L3 mediates binding to the chromosomal passenger complex and is required for localization of GAS2L3 to the constriction zone during abscission.
    2. show that the Gas2l3 protein is targeted for ubiquitin-mediated proteolysis by the APC/C(Cdh1) complex, but not by the APC/C(Cdc20) complex, and is phosphorylated by Cdk1 in mitosis
      Title: Gas2l3, a novel constriction site-associated protein whose regulation is mediated by the APC/C Cdh1 complex.
    3. GAS2L3, a target gene of the DREAM complex, is required for cytokinesis and genomic stability.
      Title: GAS2L3, a target gene of the DREAM complex, is required for proper cytokinesis and genomic stability.
    4. tubulin acetylation drives GAS2-like 3 localization to MTs and may provide functional insights into the role of GAS2-like 3.
      Title: Characterization of G2L3 (GAS2-like 3), a new microtubule- and actin-binding protein related to spectraplakins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin crosslink formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GAS2-like protein 3
    Names
    growth arrest-specific protein 2-like 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001303130.2 → NP_001290059.1  GAS2-like protein 3 isoform a

      See identical proteins and their annotated locations for NP_001290059.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (a).
      Source sequence(s)
      AA398563, AC010209, AK315189
      Consensus CDS
      CCDS9079.1
      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1
      UniProtKB/TrEMBL
      B3KTH9
      Related
      ENSP00000266754.5, ENST00000266754.9
      Conserved Domains (3) summary
      pfam05109
      Location:309 → 693
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02187
      Location:213 → 281
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      cd21269
      Location:44 → 172
      CH_GAS2L3; calponin homology (CH) domain found in growth arrest-specific protein 2-like 3

    2. NM_001303131.2 → NP_001290060.1  GAS2-like protein 3 isoform b

      See identical proteins and their annotated locations for NP_001290060.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AA398563, AC010209, AK095594, DA753921
      Consensus CDS
      CCDS76590.1
      UniProtKB/TrEMBL
      B3KTH9, G3V1N3
      Related
      ENSP00000442406.1, ENST00000537247.5
      Conserved Domains (2) summary
      pfam02187
      Location:110 → 177
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      cl00030
      Location:2 → 63
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

    3. NM_001363672.2 → NP_001350601.1  GAS2-like protein 3 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC010200, AC010209
      Consensus CDS
      CCDS9079.1
      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1
      UniProtKB/TrEMBL
      B3KTH9
      Conserved Domains (3) summary
      pfam05109
      Location:309 → 693
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02187
      Location:213 → 281
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      cd21269
      Location:44 → 172
      CH_GAS2L3; calponin homology (CH) domain found in growth arrest-specific protein 2-like 3

    4. NM_174942.3 → NP_777602.1  GAS2-like protein 3 isoform a

      See identical proteins and their annotated locations for NP_777602.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2 and 4 encode the same isoform (a).
      Source sequence(s)
      AA398563, AC010209, BC043366, BP872524
      Consensus CDS
      CCDS9079.1
      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1
      UniProtKB/TrEMBL
      B3KTH9
      Related
      ENSP00000448955.1, ENST00000547754.6
      Conserved Domains (3) summary
      pfam05109
      Location:309 → 693
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02187
      Location:213 → 281
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      cd21269
      Location:44 → 172
      CH_GAS2L3; calponin homology (CH) domain found in growth arrest-specific protein 2-like 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      100573684..100628288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428730.1 → XP_047284686.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    2. XM_047428734.1 → XP_047284690.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    3. XM_047428733.1 → XP_047284689.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    4. XM_047428732.1 → XP_047284688.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    5. XM_047428737.1 → XP_047284693.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    6. XM_047428735.1 → XP_047284691.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    7. XM_047428731.1 → XP_047284687.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    8. XM_047428736.1 → XP_047284692.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    9. XM_005268804.4 → XP_005268861.1  GAS2-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_005268861.1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1
      UniProtKB/TrEMBL
      B3KTH9
      Conserved Domains (3) summary
      pfam05109
      Location:309 → 693
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02187
      Location:213 → 281
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      cd21269
      Location:44 → 172
      CH_GAS2L3; calponin homology (CH) domain found in growth arrest-specific protein 2-like 3

    10. XM_011538220.3 → XP_011536522.1  GAS2-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011536522.1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1
      UniProtKB/TrEMBL
      B3KTH9
      Conserved Domains (3) summary
      pfam05109
      Location:309 → 693
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02187
      Location:213 → 281
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      cd21269
      Location:44 → 172
      CH_GAS2L3; calponin homology (CH) domain found in growth arrest-specific protein 2-like 3

    11. XM_011538221.3 → XP_011536523.1  GAS2-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011536523.1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1
      UniProtKB/TrEMBL
      B3KTH9
      Conserved Domains (3) summary
      pfam05109
      Location:309 → 693
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02187
      Location:213 → 281
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      cd21269
      Location:44 → 172
      CH_GAS2L3; calponin homology (CH) domain found in growth arrest-specific protein 2-like 3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      100535086..100589688
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371827.1 → XP_054227802.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    2. XM_054371831.1 → XP_054227806.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    3. XM_054371830.1 → XP_054227805.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    4. XM_054371829.1 → XP_054227804.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    5. XM_054371834.1 → XP_054227809.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    6. XM_054371832.1 → XP_054227807.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    7. XM_054371828.1 → XP_054227803.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    8. XM_054371833.1 → XP_054227808.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    9. XM_054371826.1 → XP_054227801.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    10. XM_054371835.1 → XP_054227810.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1

    11. XM_054371836.1 → XP_054227811.1  GAS2-like protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RCN2, Q86XJ1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XJ1.1 GenPept UniProtKB/Swiss-Prot:Q86XJ1

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