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GAS8 growth arrest specific 8 [ Homo sapiens (human) ]

Gene ID: 2622, updated on 3-Apr-2024

Summary

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Official Symbol
GAS8provided by HGNC
Official Full Name
growth arrest specific 8provided by HGNC
Primary source
HGNC:HGNC:4166
See related
Ensembl:ENSG00000141013 MIM:605178; AllianceGenome:HGNC:4166
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DRC4; GAS11; CILD33
Summary
This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Expression
Ubiquitous expression in testis (RPKM 6.8), thyroid (RPKM 6.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
16q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (90019633..90044960)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (96105808..96131173)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90086041..90111368)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90039036-90040019 Neighboring gene CENPB DNA-binding domain containing 1, pseudogene Neighboring gene AFG3 like matrix AAA peptidase subunit 1, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90054784-90054958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:90059900-90060881 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90061681-90062880 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46884 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46891 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90066749-90066899 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46902 Neighboring gene dysbindin domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7936 Neighboring gene Sharpr-MPRA regulatory region 21 Neighboring gene GAS8 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90112831-90113344 Neighboring gene urate (hydroxyiso-) hydrolase, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90123853-90125052 Neighboring gene PR/SET domain 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90148312-90148967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90148968-90149622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90159897-90160670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90160671-90161443 Neighboring gene tubulin beta 8 class VIII pseudogene 7

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. LncRNA GAS8-AS1 inhibits cell proliferation through ATG5-mediated autophagy in papillary thyroid cancer. Qin Y, et al. Endocrine, 2018 Mar. PMID 29327301
  2. LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit glioblastoma cell proliferation. Wu X, et al. Brain Behav, 2021 Jun. PMID 33942556, Free PMC Article
  3. Expression analysis of growth arrest specific 8 and its anti-sense in breast cancer tissues. Dashti S, et al. Exp Mol Pathol, 2020 Jun. PMID 32165089
  4. GAS8 and its naturally occurring antisense RNA as biomarkers in multiple sclerosis. Patoughi M, et al. Immunobiology, 2019 Jul. PMID 31003831
  5. The long noncoding RNA GAS8-AS1 suppresses hepatocarcinogenesis by epigenetically activating the tumor suppressor GAS8. Pan W, et al. J Biol Chem, 2018 Nov 2. PMID 30228180, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit glioblastoma cell proliferation.
    Title: LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit glioblastoma cell proliferation.
  2. Expression analysis of growth arrest specific 8 and its anti-sense in breast cancer tissues.
    Title: Expression analysis of growth arrest specific 8 and its anti-sense in breast cancer tissues.
  3. The current study shows significance of GAS8 and GAS8-AS1 in the pathogenesis of MS and the putative role of GAS8-AS1 as a diagnostic biomarker in a subset of patients.
    Title: GAS8 and its naturally occurring antisense RNA as biomarkers in multiple sclerosis.
  4. Expression of GAS8-AS1 or GAS8 is significantly decreased in hepatocellular carcinoma tissues and is associated with a poor prognosis among hepatocellular carcinoma patients.
    Title: The long noncoding RNA GAS8-AS1 suppresses hepatocarcinogenesis by epigenetically activating the tumor suppressor GAS8.
  5. In papillary thyroid carcinoma (PTC) cell lines, GAS8-AS1 inhibited proliferation, activated autophagy, and increased ATG5 expression. Downregulation of ATG5 reversed GAS8-AS1-mediated activation of autophagy leading to cell death, revealing a novel mechanism of the GAS8-AS1-ATG5 axis in PTC cell lines.
    Title: LncRNA GAS8-AS1 inhibits cell proliferation through ATG5-mediated autophagy in papillary thyroid cancer.
  6. Study identifies bi-allelic loss-of-function mutations in GAS8 as a cause for primary ciliary dyskinesia, and unveils the key importance of the protein encoded by this gene in N-DRC integrity and in the proper alignment of axonemal microtubules in humans.
    Title: Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
  7. Here, we generate the first mouse with a Gas8 mutation and show that it causes severe Primary Ciliary Dyskinesia (PCD)phenotypes; however, there were no overt Hh pathway phenotypes. In addition, we identified two human patients with missense variants in Gas8
    Title: Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
  8. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
    Title: Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
  9. A two-hybrid screen for proteins that interact with NS1 from influenza A yielded growth arrest-specific protein 8. Gas8 associated with NS1 in vitro and in vivo.
    Title: Interaction of influenza virus NS1 protein with growth arrest-specific protein 8.
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

Associated conditions

Description Tests
Primary ciliary dyskinesia 33
MedGen: C4225230 OMIM: 616726 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study of tanning phenotype in a population of European ancestry.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138326

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in axoneme assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium movement involved in cell motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cilium movement involved in extracellular fluid movement IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
dynein regulatory complex subunit 4
Names
GAS-11
epididymis secretory sperm binding protein
growth arrest-specific protein 11
growth arrest-specific protein 8

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.

Genomic

  1. NG_046598.1 RefSeqGene

    Range
    8052..30332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286205.2 → NP_001273134.1  dynein regulatory complex subunit 4 isoform b

    See identical proteins and their annotated locations for NP_001273134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at the 5' end of an exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AF050079, AK293958, BC104785, BX647947
    Consensus CDS
    CCDS73932.1
    UniProtKB/TrEMBL
    A0A087WZT7, B7Z1U9
    Related
    ENSP00000482877.1, ENST00000620723.4
    Conserved Domains (2) summary
    COG1196
    Location:6 → 262
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam13851
    Location:138 → 337
    GAS; Growth-arrest specific micro-tubule binding

  2. NM_001286208.2 → NP_001273137.1  dynein regulatory complex subunit 4 isoform c

    See identical proteins and their annotated locations for NP_001273137.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site at the 5' end of an exon and lacks an alternate internal exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC133919, AF050079, BC104785, BX647947
    UniProtKB/Swiss-Prot
    O95995
    Conserved Domains (1) summary
    pfam13851
    Location:29 → 228
    GAS; Growth-arrest specific micro-tubule binding

  3. NM_001286209.2 → NP_001273138.1  dynein regulatory complex subunit 4 isoform d

    See identical proteins and their annotated locations for NP_001273138.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC133919, AF050079, AK297857, BC104785, BX647947, DA504655, DC370728
    Consensus CDS
    CCDS67101.1
    UniProtKB/TrEMBL
    B7Z1U9
    Related
    ENSP00000440977.1, ENST00000536122.7
    Conserved Domains (2) summary
    COG1196
    Location:47 → 320
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam13851
    Location:196 → 395
    GAS; Growth-arrest specific micro-tubule binding

  4. NM_001481.3 → NP_001472.1  dynein regulatory complex subunit 4 isoform a

    See identical proteins and their annotated locations for NP_001472.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF050079, BC104785, BX647947
    Consensus CDS
    CCDS10992.1
    UniProtKB/Swiss-Prot
    B2RCT1, B7Z4U1, G3V1L5, O95995, Q2M234
    UniProtKB/TrEMBL
    A0A384MR00, B7Z1U9
    Related
    ENSP00000268699.4, ENST00000268699.9
    Conserved Domains (2) summary
    pfam13851
    Location:221 → 420
    GAS; Growth-arrest specific micro-tubule binding
    cl25732
    Location:72 → 345
    SMC_N; RecF/RecN/SMC N terminal domain

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

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    90019633..90044960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522992.3 → XP_011521294.1  dynein regulatory complex subunit 4 isoform X1

    See identical proteins and their annotated locations for XP_011521294.1

    UniProtKB/TrEMBL
    A0A087WZT7, B7Z1U9
    Conserved Domains (2) summary
    COG1196
    Location:6 → 262
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam13851
    Location:138 → 337
    GAS; Growth-arrest specific micro-tubule binding

  2. XM_006721175.4 → XP_006721238.1  dynein regulatory complex subunit 4 isoform X1

    See identical proteins and their annotated locations for XP_006721238.1

    UniProtKB/TrEMBL
    A0A087WZT7, B7Z1U9
    Conserved Domains (2) summary
    COG1196
    Location:6 → 262
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam13851
    Location:138 → 337
    GAS; Growth-arrest specific micro-tubule binding

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    96105808..96131173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380021.1 → XP_054235996.1  dynein regulatory complex subunit 4 isoform X1

    UniProtKB/TrEMBL
    A0A087WZT7

  2. XM_054380020.1 → XP_054235995.1  dynein regulatory complex subunit 4 isoform X1

    UniProtKB/TrEMBL
    A0A087WZT7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_023348.1: Suppressed sequence

    Description
    NR_023348.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95995.1 GenPept UniProtKB/Swiss-Prot:O95995

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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