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

Gene ID: 283431, updated on 28-Oct-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, Oct 2024]
Expression
Broad expression in gall bladder (RPKM 2.2), colon (RPKM 1.8) and 23 other tissues See more
Orthologs
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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 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. 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. Fackler M, et al. FEBS J, 2014 May. PMID 24571573

See all (32) 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)

Genotypes

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 
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
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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