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

Summary

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, Apr 2022]
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

Location:: 12q23.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (100573684..100628288)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (100535086..100589688)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (100967462..101022066)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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 EBI GWAS CatalogPubMed

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

GDB:604488 (e-PCR)
- UniSTS:99199

RH44860 (e-PCR)
- UniSTS:71629

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 cytoskeletal anchor activity	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)

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
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 ...
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

100573684..100628288

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_047428734.1 → XP_047284690.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_047428733.1 → XP_047284689.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_047428732.1 → XP_047284688.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_047428737.1 → XP_047284693.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_047428735.1 → XP_047284691.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_047428731.1 → XP_047284687.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_047428736.1 → XP_047284692.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
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
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
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

NC_060936.1 Alternate T2T-CHM13v2.0

Range

100535086..100589688

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371831.1 → XP_054227806.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371830.1 → XP_054227805.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371829.1 → XP_054227804.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371834.1 → XP_054227809.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371832.1 → XP_054227807.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371828.1 → XP_054227803.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371833.1 → XP_054227808.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371826.1 → XP_054227801.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371835.1 → XP_054227810.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1
XM_054371836.1 → XP_054227811.1 GAS2-like protein 3 isoform X1

UniProtKB/Swiss-Prot

B2RCN2, Q86XJ1