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This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008] See more...
Aliases for GAN Gene
Aliases for GAN Gene
External Ids for GAN Gene
- HGNC: 4137
- NCBI Entrez Gene: 8139
- Ensembl: ENSG00000261609
- OMIM®: 605379
- UniProtKB/Swiss-Prot: Q9H2C0
Previous GeneCards Identifiers for GAN Gene
- GC16P072189
- GC16P082309
- GC16P081087
- GC16P081128
- GC16P079906
- GC16P081348
- GC16P067103
- GC16P081315
- GC16P081316
- GC16P081317
- GC16P081318
Summaries for GAN Gene
-
This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
GeneCards Summary for GAN Gene
GAN (Gigaxonin) is a Protein Coding gene. Diseases associated with GAN include Giant Axonal Neuropathy 1, Autosomal Recessive and Giant Axonal Neuropathy. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KLHL26.
UniProtKB/Swiss-Prot Summary for GAN Gene
-
Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.
Additional gene information for GAN Gene
- HGNC (4137)
- NCBI Entrez Gene (8139)
- Ensembl (ENSG00000261609)
- OMIM® (605379)
- UniProtKB/Swiss-Prot (Q9H2C0)
- Open Targets Platform(ENSG00000261609)
- Monarch Initiative
- Search for GAN at DataMed
- Search for GAN at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAN Gene
Genomics for GAN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GAN 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 GAN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAN
- Top Transcription factor binding sites by QIAGEN in the GAN gene promoter:
-
- AREB6
- Bach1
- Cdc5
- CREB
- deltaCREB
- GATA-2
- LCR-F1
- SRF
- SRF (504 AA)
- SRY
Genomic Locations for GAN Gene
Latest Assembly
- chr16:81,314,944-81,390,809
- (GRCh38/hg38)
- Size:
- 75,866 bases
- Orientation:
- Plus strand
Previous Assembly
- chr16:81,348,567-81,424,414
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 75,848 bases
- Orientation:
- Plus strand
- chr16:81,348,557-81,424,489
- (GRCh37/hg19 by Ensembl)
- Size:
- 75,933 bases
- Orientation:
- Plus strand
Genomic View for GAN Gene
Genes around GAN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q23.2 by HGNC
- 16q23.2 by Entrez Gene
- 16q23.2 by Ensembl
GAN 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 GAN Gene
Proteins for GAN Gene
-
Protein details for GAN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H2C0-GAN_HUMAN
- Recommended name:
- Gigaxonin
- Protein Accession:
- Q9H2C0
Protein attributes for GAN Gene
- Size:
- 597 amino acids
- Molecular mass:
- 67638 Da
- Quaternary structure:
-
- Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).
Protein Expression for GAN Gene
Post-translational modifications for GAN Gene
- Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for GAN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for GAN
- Novus Biologicals Antibodies for GAN
- Invitrogen Antibodies for GAN (AFLGC-GAN)
-
Biorbyt antibodies for GAN
-
Custom Antibody ServicesProSci Antibodies for GAN
-
Santa Cruz Biotechnology (SCBT) Antibodies for GAN
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for GAN
- Origene Custom Protein Services for GAN
- Novus Biologicals proteins for GAN
- antibodies-online: Show 5 available GAN Proteins ranked by validation data
- Compare Top GAN Proteins
-
Quality Products:
-
Abcam proteins for GAN
Assay products for research
- antibodies-online: Show 10 available GAN Elisa Kits ranked by validation data
- Compare Top GAN Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for GAN Gene
Domains & Families for GAN Gene
Gene Families for GAN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for GAN Gene
- InterPro:
- Blocks:
-
- BTB/POZ domain
- BTB/Kelch-associated
- ProtoNet:
Suggested Antigen Peptide Sequences for GAN Gene
- GenScript: Design optimal peptide antigens:
-
- Kelch-like protein 16 (GAN_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GAN Gene
Function for GAN Gene
Molecular function for GAN Gene
- UniProtKB/Swiss-Prot Function:
- Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.
Phenotypes From GWAS Catalog for GAN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 12147674 |
Phenotypes for GAN Gene
- MGI mutant phenotypes for GAN:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GAN:
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 GAN - Starting at $85 >
- * GAN 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 GAN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAN
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAN
miRNA for GAN Gene
- miRTarBase miRNAs that target GAN
-
- hsa-miR-3662 (MIRT075691)
- hsa-miR-32-5p (MIRT075701)
- hsa-miR-92a-3p (MIRT075702)
- hsa-miR-92b-3p (MIRT075713)
- hsa-miR-4781-3p (MIRT242435)
- hsa-miR-4713-5p (MIRT493798)
- hsa-miR-7977 (MIRT493799)
- hsa-miR-2116-3p (MIRT493800)
- hsa-miR-532-3p (MIRT493801)
- hsa-miR-150-5p (MIRT493802)
- hsa-miR-4639-3p (MIRT493803)
- hsa-miR-4457 (MIRT493804)
- hsa-miR-4731-3p (MIRT493805)
- hsa-miR-4801 (MIRT493806)
- hsa-miR-124-3p (MIRT493807)
- hsa-miR-340-5p (MIRT507170)
- hsa-miR-3117-5p (MIRT507171)
- hsa-miR-425-5p (MIRT507172)
- hsa-miR-3163 (MIRT507173)
- hsa-miR-548c-3p (MIRT507174)
- hsa-miR-186-3p (MIRT537225)
- hsa-miR-6871-3p (MIRT537226)
- hsa-miR-605-5p (MIRT537227)
- hsa-miR-600 (MIRT570679)
- hsa-miR-4279 (MIRT572057)
- hsa-miR-6749-3p (MIRT572058)
- hsa-miR-4469 (MIRT572059)
- hsa-miR-4740-3p (MIRT572060)
- hsa-miR-4714-3p (MIRT572061)
- hsa-miR-211-5p (MIRT623837)
- hsa-miR-204-5p (MIRT623838)
- hsa-miR-3156-3p (MIRT623839)
- hsa-miR-188-3p (MIRT623840)
- hsa-miR-4766-3p (MIRT623841)
- hsa-miR-4685-3p (MIRT623842)
- hsa-miR-4287 (MIRT623843)
- hsa-miR-4301 (MIRT623844)
- hsa-miR-3908 (MIRT623845)
- hsa-miR-4703-5p (MIRT623846)
- hsa-miR-3942-5p (MIRT623847)
- hsa-miR-599 (MIRT628192)
- hsa-miR-1260b (MIRT628193)
- hsa-miR-1260a (MIRT628194)
- hsa-miR-3145-3p (MIRT628195)
- hsa-miR-7855-5p (MIRT657974)
- hsa-miR-4710 (MIRT657975)
- hsa-miR-6829-3p (MIRT657976)
- hsa-miR-4792 (MIRT657977)
- hsa-miR-6791-3p (MIRT657978)
- hsa-miR-4299 (MIRT657979)
- hsa-miR-5193 (MIRT657980)
- hsa-miR-6891-3p (MIRT657981)
- hsa-miR-6072 (MIRT657982)
- hsa-miR-582-3p (MIRT657983)
- hsa-miR-6516-5p (MIRT657984)
- hsa-miR-3678-3p (MIRT657985)
- hsa-miR-1273h-3p (MIRT657986)
- hsa-miR-2467-3p (MIRT657987)
- hsa-miR-6844 (MIRT657988)
- hsa-miR-141-5p (MIRT657989)
- hsa-miR-3157-5p (MIRT669784)
- hsa-miR-5096 (MIRT669785)
- hsa-miR-3187-3p (MIRT669786)
- hsa-miR-4435 (MIRT669787)
- hsa-miR-588 (MIRT669788)
- hsa-miR-4701-5p (MIRT669789)
- hsa-miR-548s (MIRT669790)
- hsa-miR-203b-3p (MIRT669791)
- hsa-miR-7158-3p (MIRT669792)
- hsa-miR-378a-5p (MIRT669793)
- hsa-miR-197-3p (MIRT669794)
- hsa-miR-193b-5p (MIRT669795)
- hsa-miR-8086 (MIRT669796)
- hsa-miR-4755-3p (MIRT669797)
- hsa-miR-6821-3p (MIRT669798)
- hsa-miR-6790-3p (MIRT669799)
- hsa-miR-4680-5p (MIRT669800)
- hsa-miR-4635 (MIRT669801)
- hsa-miR-3653-5p (MIRT669802)
- hsa-miR-4716-5p (MIRT669803)
- hsa-miR-1207-5p (MIRT736020)
- hsa-miR-1302 (MIRT737263)
- hsa-miR-1911-3p (MIRT738475)
- hsa-miR-296-3p (MIRT739518)
- hsa-miR-3122 (MIRT739982)
- hsa-miR-3153 (MIRT740380)
- hsa-miR-3179 (MIRT740728)
- hsa-miR-3616-3p (MIRT741666)
- hsa-miR-3652 (MIRT741890)
- hsa-miR-3913-5p (MIRT742864)
- hsa-miR-3914 (MIRT742870)
- hsa-miR-3928-3p (MIRT743039)
- hsa-miR-3936 (MIRT743113)
- hsa-miR-4298 (MIRT743813)
- hsa-miR-4425 (MIRT744275)
- hsa-miR-4430 (MIRT744328)
- hsa-miR-4436b-3p (MIRT744458)
- hsa-miR-4468 (MIRT744921)
- hsa-miR-4632-5p (MIRT746268)
- hsa-miR-4668-5p (MIRT746821)
- hsa-miR-4763-3p (MIRT748529)
- hsa-miR-548ao-3p (MIRT750554)
- hsa-miR-6077 (MIRT751702)
- hsa-miR-6081 (MIRT751757)
- hsa-miR-6721-5p (MIRT753794)
- hsa-miR-6733-5p (MIRT754104)
- hsa-miR-6735-5p (MIRT754171)
- hsa-miR-6739-5p (MIRT754301)
- hsa-miR-6756-5p (MIRT754790)
- hsa-miR-6766-5p (MIRT755098)
- hsa-miR-6847-5p (MIRT757470)
- hsa-miR-6879-5p (MIRT758258)
- hsa-miR-7-5p (MIRT759429)
- hsa-miR-7843-5p (MIRT759760)
- hsa-miR-92a-1-5p (MIRT760519)
- hsa-miR-101-3p (MIRT761071)
- hsa-miR-1262 (MIRT761699)
- hsa-miR-1273g-3p (MIRT761937)
- hsa-miR-4252 (MIRT767995)
- hsa-miR-4701-3p (MIRT771309)
- hsa-miR-4793-3p (MIRT772384)
- hsa-miR-508-5p (MIRT773147)
- hsa-miR-566 (MIRT774931)
- hsa-miR-582-5p (MIRT775322)
- hsa-miR-6512-3p (MIRT776901)
- hsa-miR-652-3p (MIRT777267)
- hsa-miR-661 (MIRT777426)
- hsa-miR-6720-5p (MIRT777747)
- hsa-miR-6736-5p (MIRT778060)
- hsa-miR-6742-3p (MIRT778135)
- hsa-miR-6776-5p (MIRT778744)
- hsa-miR-6789-3p (MIRT779271)
- hsa-miR-6849-3p (MIRT780284)
- hsa-miR-766-3p (MIRT781856)
- hsa-miR-7703 (MIRT782004)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAN
- Browse OriGene Inhibitory RNA Products For GAN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAN
Clone products for research
- Applied Biological Materials (abm): Clones for GAN - Starting at $45 >
- * GAN 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 GAN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAN
Cell Lines for research
-
Horizon Cell Lines for GAN
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GAN Gene
Localization for GAN Gene
Subcellular locations from UniProtKB/Swiss-Prot for GAN Gene
- Cytoplasm. Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Microtubules (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 19424503 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0031463 | Cul3-RING ubiquitin ligase complex | IDA | 15983046 |
Pathways & Interactions for GAN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for GAN Gene
UniProtKB/Swiss-Prot Q9H2C0-GAN_HUMAN
- Pathway: Protein modification; protein ubiquitination.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0043687 | post-translational protein modification | TAS | -- |
No data available for SIGNOR curated interactions for GAN Gene
Transcripts for GAN Gene
mRNA/cDNA for GAN Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000567335 222 nts (view in UCSC)
- ENST00000648349 4163 nts (view in UCSC)
- ENST00000648994 15159 nts (view in UCSC)
- ENST00000650388 1325 nts (view in UCSC)
- ENST00000674788 1118 nts
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GAN - Starting at $85 >
- * GAN 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 GAN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAN
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAN
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAN
- Browse OriGene Inhibitory RNA Products For GAN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAN
Clone products for research
- Applied Biological Materials (abm): Clones for GAN - Starting at $45 >
- * GAN 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 GAN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAN
Relevant External Links for GAN Gene
- GeneLoc Exon Structure for
- GAN
Expression for GAN Gene
mRNA differential expression in normal tissues according to GTEx for GAN Gene
This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x7.3) and Skin - Not Sun Exposed (Suprapubic) (x6.4).
This gene is overexpressed in Cervix (20.1), Spinal cord (11.7), and Fetal Brain (8.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GAN Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAN
SOURCE GeneReport for Unigene cluster for GAN Gene:
Hs.112569mRNA Expression by UniProt/SwissProt for GAN Gene:
Q9H2C0-GAN_HUMAN
Tissue specificity:
Expressed in brain, heart and muscle.
Evidence on tissue expression from TISSUES for GAN Gene
- Nervous system(4.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GAN Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- head
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- arm
- foot
- forearm
- hand
- lower limb
- shin
- thigh
- upper limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for GAN
-
OriGene qPCR primer pairs and template standards for GAN
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GAN Gene
Orthologs for GAN Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Oppossum (Monodelphis domestica) |
Mammalia | GAN 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | GAN 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GAN 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gan 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gan 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | GAN 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GAN 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GAN 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GAN 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gan 30 |
|
||
| Str.16055 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | CABZ01034126.1 31 |
|
OneToOne | |
| LOC100537435 30 |
|
||||
| Worm (Caenorhabditis elegans) |
Secernentea | kel-10 31 |
|
OneToMany | |
| F47D12.7 31 |
|
OneToMany | |||
| spe-26 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for GAN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
Evolution for GAN Gene
- ENSEMBL:
- Gene Tree for GAN (if available)
- TreeFam:
- Gene Tree for GAN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GAN: view image
Paralogs for GAN Gene
Paralogs for GAN Gene
- KLHL26 5
- KLHL3 5
- KLHL36 5
- KLHL2 5
- KLHL28 5
- KLHL1 5
- KLHL9 5
- KLHL17 5
- KLHL29 5
- KEAP1 5
- KLHL5 5
- KLHL13 5
- IPP 5
- KLHL10 5
- KLHL20 5
- KLHL14 5
- KLHL21 5
- KLHL4 5
- KLHL40 5
- KLHL31 5
- KLHL32 5
- KLHL23 5
- KLHL6 5
- KLHL24 5
- KLHL12 5
- KLHL15 5
- KLHL18 5
- KLHL8 5
- KLHL35 5
- KLHL41 5
- KLHL34 5
- CCIN 5
- KBTBD12 5
- IVNS1ABP 5
- KLHL7 5
- KBTBD2 5
- KLHL38 5
- KBTBD8 5
- KLHL30 5
- KBTBD6 5
- KBTBD7 5
- KBTBD11 5
- KLHL42 5
- KBTBD3 5
- KLHL22 5
- KLHL33 5
- KBTBD13 5
- KLHDC7A 5
- KLHDC7B 5
- KLHDC8B 5
- BTBD18 5
- KLHDC8A 5
- BACH2 5
- GRIK1-AS2 5
- ENSG00000277971 5
(1) SIMAP similar genes for GAN Gene using alignment to 1 proteins:
- GAN_HUMAN
Variants for GAN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAN Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835533 | Uncertain Significance: Giant axonal neuropathy 1 | 81,354,426(+) |
A/G NM_022041.4(GAN):c.304A>G (p.Ile102Val) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 837182 | Uncertain Significance: Giant axonal neuropathy 1 | 81,377,547(+) |
G/A NM_022041.4(GAN):c.1745G>A (p.Arg582His) |
MISSENSE | |
| 838489 | Uncertain Significance: Giant axonal neuropathy 1 | 81,356,997(+) |
G/C NM_022041.4(GAN):c.846G>C (p.Glu282Asp) |
MISSENSE | |
| 840378 | Uncertain Significance: Giant axonal neuropathy 1 | 81,377,516(+) |
G/C NM_022041.4(GAN):c.1714G>C (p.Ala572Pro) |
MISSENSE | |
| 840391 | Uncertain Significance: Giant axonal neuropathy 1 | 81,365,394(+) |
T/C NM_022041.4(GAN):c.1418T>C (p.Phe473Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
5.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.40;
27.53% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GAN Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAN Gene
Disorders for GAN Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| giant axonal neuropathy 1, autosomal recessive |
|
|
| giant axonal neuropathy |
|
|
| axonal neuropathy |
|
|
| neuropathy |
|
|
| giant axonal neuropathy 2 |
|
|
Search GAN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GAN_HUMAN- Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]: A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. {ECO:0000269 PubMed:11062483, ECO:0000269 PubMed:11971098, ECO:0000269 PubMed:12655563, ECO:0000269 PubMed:16303566, ECO:0000269 PubMed:17578852, ECO:0000269 PubMed:17587580}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for GAN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for GAN Gene
Publications for GAN Gene
- The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. (PMID: 11062483) Bomont P … Koenig M (Nature genetics 2000) 2 3 4 23 74
- Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). (PMID: 17587580) Koop O … Kuhlenbäumer G (Neuromuscular disorders : NMD 2007) 3 4 23
- New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (PMID: 17578852) Houlden H … Reilly MM (Journal of neurology, neurosurgery, and psychiatry 2007) 3 4 23
- Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. (PMID: 16227972) Allen E … Yang Y (Nature 2005) 3 4 23
- Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. (PMID: 16303566) Wang W … Yang Y (Current biology : CB 2005) 3 4 23
ExternalLinks
Products for GAN Gene
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Sources for GAN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (134) Gene ORGANizer
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- (136) Human Protein Atlas
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- (139) DataMed
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- (143) Applied Biosystems
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- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
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