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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 th... See more...
Aliases for GAS8 Gene
Aliases for GAS8 Gene
External Ids for GAS8 Gene
- HGNC: 4166
- NCBI Entrez Gene: 2622
- Ensembl: ENSG00000141013
- OMIM®: 605178
- UniProtKB/Swiss-Prot: O95995
Previous HGNC Symbols for GAS8 Gene
- GAS11
Previous GeneCards Identifiers for GAS8 Gene
- GC16P091073
- GC16P089787
- GC16P089828
- GC16P089831
- GC16P088613
- GC16P090089
- GC16P075780
Summaries for GAS8 Gene
-
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]
GeneCards Summary for GAS8 Gene
GAS8 (Growth Arrest Specific 8) is a Protein Coding gene. Diseases associated with GAS8 include Ciliary Dyskinesia, Primary, 33 and Primary Ciliary Dyskinesia. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.
UniProtKB/Swiss-Prot Summary for GAS8 Gene
-
Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity).
Additional gene information for GAS8 Gene
- HGNC (4166)
- NCBI Entrez Gene (2622)
- Ensembl (ENSG00000141013)
- OMIM® (605178)
- UniProtKB/Swiss-Prot (O95995)
- Open Targets Platform(ENSG00000141013)
- Monarch Initiative
- Search for GAS8 at DataMed
- Search for GAS8 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAS8 Gene
Genomics for GAS8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GAS8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GAS8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAS8
- Top Transcription factor binding sites by QIAGEN in the GAS8 gene promoter:
-
- GATA-1
- GATA-2
- HOXA3
- NF-kappaB
- NF-kappaB1
- Sp1
- Spz1
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for GAS8 Gene
Latest Assembly
- chr16:90,019,629-90,044,975
- (GRCh38/hg38)
- Size:
- 25,347 bases
- Orientation:
- Plus strand
Previous Assembly
- chr16:90,086,041-90,111,368
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,328 bases
- Orientation:
- Plus strand
- chr16:90,086,037-90,111,383
- (GRCh37/hg19 by Ensembl)
- Size:
- 25,347 bases
- Orientation:
- Plus strand
Genomic View for GAS8 Gene
Genes around GAS8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.3 by HGNC
- 16q24.3 by Entrez Gene
- 16q24.3 by Ensembl
GAS8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GAS8 Gene
Proteins for GAS8 Gene
-
Protein details for GAS8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95995-DRC4_HUMAN
- Recommended name:
- Dynein regulatory complex subunit 4
- Protein Accession:
- O95995
- B2RCT1
- B7Z4U1
- G3V1L5
- Q2M234
Protein attributes for GAS8 Gene
- Size:
- 478 amino acids
- Molecular mass:
- 56356 Da
- Quaternary structure:
-
- Component of the nexin-dynein regulatory complex (N-DRC). Interacts with microtubules (By similarity). Interacts with SMO (PubMed:21659505). Interacts (via coiled-coil domains) with RAB3B (in GTP-bound form) (By similarity).
Protein Expression for GAS8 Gene
Post-translational modifications for GAS8 Gene
Other Protein References for GAS8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ GAS8 Antibody
- Novus Biologicals Antibodies for GAS8
- Invitrogen Antibodies for GAS8 (AFLGC-GAS8)
-
Biorbyt antibodies for GAS8
-
Boster Bio Antibodies for GAS8
-
Santa Cruz Biotechnology (SCBT) Antibodies for GAS8
Protein products for research
-
OriGene Purified Proteins for GAS8
- Search Origene for MassSpec and Protein Over-expression Lysates for GAS8
- Origene Custom Protein Services for GAS8
- antibodies-online: Show 6 available GAS8 Proteins ranked by validation data
- Compare Top GAS8 Proteins
-
Quality Products:
Assay products for research
- antibodies-online: Search results for available GAS8 related products ranked by validation data
No data available for DME Specific Peptides for GAS8 Gene
Domains & Families for GAS8 Gene
Gene Families for GAS8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for GAS8 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ51714, highly similar to Growth-arrest-specific protein 8 (B7Z1X3_HUMAN)
- cDNA FLJ55405, highly similar to Growth-arrest-specific protein 8 (B7Z9B0_HUMAN)
- Growth arrest-specific protein 11 (GAS8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O95995- Family:
-
- Belongs to the DRC4 family.
Function for GAS8 Gene
Molecular function for GAS8 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity).
Phenotypes From GWAS Catalog for GAS8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 21659505 |
| GO:0008017 | microtubule binding | ISS | -- |
| GO:0017137 | Rab GTPase binding | IEA | -- |
| GO:0031267 | small GTPase binding | IBA | -- |
Phenotypes for GAS8 Gene
- MGI mutant phenotypes for GAS8:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GAS8:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GAS8 - Starting at $85 >
- * GAS8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GAS8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAS8
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAS8
miRNA for GAS8 Gene
- miRTarBase miRNAs that target GAS8
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAS8
- Browse OriGene Inhibitory RNA Products For GAS8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAS8
Clone products for research
- Applied Biological Materials (abm): Clones for GAS8 - Starting at $45 >
- * GAS8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GAS8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAS8
Cell Lines for research
-
Horizon Cell Lines for GAS8
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GAS8 Gene
Localization for GAS8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GAS8 Gene
- Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Golgi apparatus. Cell projection, cilium. Cytoplasm, cytoskeleton, flagellum axoneme. Note=Associates with microtubules (PubMed:10969087). Localized to the cytoplasm of round spermatids, the tails of elongating spermatids, and mature spermatid tail bundles protruding into the lumen, and in the flagellum of epididymal spermatozoa (By similarity). {ECO:0000250 UniProtKB:Q60779, ECO:0000269 PubMed:10969087}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| extracellular | 3 |
| nucleus | 3 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
- Cytosol (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005794 | Golgi apparatus | IBA | 21873635 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for GAS8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
| 2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
| 3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.61
Nanog in Mammalian ESC Pluripotency
.61
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
| 5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
Pathways by source for GAS8 Gene
4 Reactome pathways for GAS8 Gene
54 Qiagen pathways for GAS8 Gene
- 14-3-3 Induced Intracellular Signaling
- Actin-Based Motility by Rho Family GTPases
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
Interacting Proteins for GAS8 Gene
Selected Interacting proteins:
O95995-DRC4_HUMAN
ENSP00000268699
for GAS8 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for GAS8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008285 | negative regulation of cell proliferation | TAS | 9790751 |
| GO:0030317 | flagellated sperm motility | IBA,ISS | -- |
| GO:0034613 | cellular protein localization | IBA | 21873635 |
| GO:0035082 | axoneme assembly | IMP | 27120127 |
| GO:0045880 | positive regulation of smoothened signaling pathway | ISS | -- |
No data available for SIGNOR curated interactions for GAS8 Gene
Transcripts for GAS8 Gene
mRNA/cDNA for GAS8 Gene
- 4 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000268699 3094 nts (view in UCSC)
- ENST00000536122 1687 nts (view in UCSC)
- ENST00000537797 1080 nts (view in UCSC)
- ENST00000540721 1308 nts (view in UCSC)
- ENST00000561675 486 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GAS8 - Starting at $85 >
- * GAS8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GAS8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAS8
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAS8
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAS8
- Browse OriGene Inhibitory RNA Products For GAS8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAS8
Clone products for research
- Applied Biological Materials (abm): Clones for GAS8 - Starting at $45 >
- * GAS8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GAS8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAS8
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for GAS8 Gene
- GeneLoc Exon Structure for
- GAS8
Expression for GAS8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
This gene is overexpressed in Stomach (33.3) and Plasma (22.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GAS8 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAS8
SOURCE GeneReport for Unigene cluster for GAS8 Gene:
Hs.431792mRNA Expression by UniProt/SwissProt for GAS8 Gene:
O95995-DRC4_HUMAN
Tissue specificity:
Expressed in respiratory epithelial cells (at protein level) (PubMed:26387594). Expressed in the heart, skeletal muscle, pancreas, liver, brain, trachea and lung. Weakly or not expressed in placenta and kidney (PubMed:9790751).
Evidence on tissue expression from TISSUES for GAS8 Gene
- Nervous system(4.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GAS8 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- epiglottis
- eye
- head
- larynx
- meninges
- middle ear
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pharynx
- sinus
- skull
Thorax:
- bronchus
- lung
- trachea
Abdomen:
- spleen
Pelvis:
- ovary
- testicle
General:
- blood
- blood vessel
- peripheral nervous system
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for GAS8
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for GAS8 Gene
Orthologs for GAS8 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GAS8 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GAS8 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GAS8 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gas8 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gas8 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | GAS8 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GAS8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GAS8 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GAS8 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gas8 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gas8 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005850 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Gas8 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4120 31 |
|
OneToOne |
- Species where no ortholog for GAS8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for GAS8 Gene
- ENSEMBL:
- Gene Tree for GAS8 (if available)
- TreeFam:
- Gene Tree for GAS8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GAS8: view image
Paralogs for GAS8 Gene
(1) SIMAP similar genes for GAS8 Gene using alignment to 7 proteins:
- GAS8_HUMAN
- G3V1L5_HUMAN
- H3BME0_HUMAN
- H3BNL3_HUMAN
- H3BP65_HUMAN
- H3BQT7_HUMAN
- H3BUA7_HUMAN
No data available for Paralogs for GAS8 Gene
Variants for GAS8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAS8 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835829 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,032,718(+) |
G/A NM_001481.3(GAS8):c.289G>A (p.Val97Met) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 838593 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,032,895(+) |
A/G NM_001481.3(GAS8):c.466A>G (p.Ser156Gly) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 839815 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,031,339(+) |
G/A NM_001481.3(GAS8):c.131G>A (p.Arg44His) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 839874 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,043,214(+) |
C/T NM_001481.3(GAS8):c.1306C>T (p.Arg436Cys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 842274 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,043,286(+) |
G/C NM_001481.3(GAS8):c.1378G>C (p.Ala460Pro) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3067n100 | CNV | gain | 25217958 |
| esv2676928 | CNV | deletion | 23128226 |
| esv2762221 | CNV | gain+loss | 21179565 |
| esv3553923 | CNV | deletion | 23714750 |
| esv3639603 | CNV | gain | 21293372 |
| esv3639606 | CNV | gain | 21293372 |
| esv3639607 | CNV | gain | 21293372 |
| esv3639608 | CNV | loss | 21293372 |
| nsv1062080 | CNV | loss | 25217958 |
| nsv1064351 | CNV | gain+loss | 25217958 |
| nsv1066499 | CNV | loss | 25217958 |
| nsv1067164 | CNV | gain+loss | 25217958 |
| nsv1070787 | CNV | deletion | 25765185 |
| nsv1118586 | CNV | duplication | 24896259 |
| nsv1933 | CNV | insertion | 18451855 |
| nsv428331 | CNV | gain+loss | 18775914 |
| nsv457626 | CNV | loss | 19166990 |
| nsv471119 | CNV | loss | 18288195 |
| nsv471120 | CNV | gain | 18288195 |
| nsv472797 | CNV | novel sequence insertion | 20440878 |
| nsv482951 | CNV | loss | 15286789 |
| nsv509641 | CNV | insertion | 20534489 |
| nsv573799 | CNV | gain | 21841781 |
| nsv573810 | CNV | loss | 21841781 |
| nsv573841 | CNV | loss | 21841781 |
| nsv573842 | CNV | loss | 21841781 |
| nsv952080 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.08;
68.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GAS8 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAS8 Gene
Disorders for GAS8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ciliary dyskinesia, primary, 33 |
|
|
| primary ciliary dyskinesia |
|
|
| osteogenesis imperfecta, type xi |
|
|
| rigid spine muscular dystrophy 1 |
|
|
| visceral heterotaxy |
|
|
Search GAS8 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DRC4_HUMAN- Ciliary dyskinesia, primary, 33 (CILD33) [MIM:616726]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive. {ECO:0000269 PubMed:26387594, ECO:0000269 PubMed:27120127, ECO:0000269 PubMed:27472056}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for GAS8
- Genetic Association Database
- (GAD)
- Atlas
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- Open Targets Platform
No data available for Genatlas for GAS8 Gene
Publications for GAS8 Gene
- Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer. (PMID: 9790751) Whitmore SA … Callen DF (Genomics 1998) 2 3 4 23
- Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. (PMID: 26387594) Olbrich H … Omran H (American journal of human genetics 2015) 3 4 74
- T lymphocyte-triggering factor of african trypanosomes is associated with the flagellar fraction of the cytoskeleton and represents a new family of proteins that are present in several divergent eukaryotes. (PMID: 10969087) Hill KL … Donelson JE (The Journal of biological chemistry 2000) 3 4 23
- Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. (PMID: 27120127) Jeanson L … Legendre M (Human mutation 2016) 3 4
- Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease. (PMID: 27472056) Lewis WR … Berbari NF (PLoS genetics 2016) 3 4
ExternalLinks
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