Gene Gene information from NCBI Gene database.
Entrez ID 8139
Gene name Gigaxonin
Gene symbol GAN
Synonyms (NCBI Gene)
GAN1GIGKLHL16
Chromosome 16
Chromosome location 16q23.2
Summary 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 prote
SNPs SNP information provided by dbSNP.
23
SNP ID Visualize variation Clinical significance Consequence
rs73589395 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs79901179 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Coding sequence variant, missense variant
rs119485088 G>A,C Pathogenic Coding sequence variant, missense variant
rs119485089 C>T Pathogenic Coding sequence variant, stop gained
rs119485090 C>T Pathogenic 5 prime UTR variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
1050
miRTarBase ID miRNA Experiments Reference
MIRT507174 hsa-miR-548c-3p HITS-CLIP 21572407
MIRT075691 hsa-miR-3662 HITS-CLIP 21572407
MIRT507173 hsa-miR-3163 HITS-CLIP 21572407
MIRT507172 hsa-miR-425-5p HITS-CLIP 21572407
MIRT507171 hsa-miR-3117-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12147674, 15778465, 16227972, 16303566, 25036637, 28514442, 32814053, 33961781, 36931259
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 19424503
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605379 4137 ENSG00000261609
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2C0
Protein name Gigaxonin (Kelch-like protein 16)
Protein 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
PDB 2PPI , 3HVE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 20 128 BTB/POZ domain Domain
PF07707 BACK 134 236 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 315 361 Kelch motif Repeat
PF01344 Kelch_1 363 408 Kelch motif Repeat
PF01344 Kelch_1 415 453 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart and muscle. {ECO:0000269|PubMed:12147674}.
Sequence
MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQKNILAAASPYIRTKLN
YNPPKDDGSTYKIELEGISVMVMREILDYIFSGQIRLNEDTIQDVVQAADLLLLTDLKTL
CCEFLEGC
IAAENCIGIRDFALHYCLHHVHYLATEYLETHFRDVSSTEEFLELSPQKLKE
VISLEKLNVGNERYVFEAVIRWIAHDTEIRKVHMKDVMSALWVSGLDSSYLREQML
NEPL
VREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIVTVGGEERVSRKPTAAMRCMCPLYD
PNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQDENKQTLSSGEKYDPDANTWTALPPM
N
EARHNFGIVEIDGMLYILGGEDGEKELISMECYDIYSKTWTKQPDLTMVRKIGCYAAMK
KKIYAMGGGSYGKLFESVECYDPRTQQWTAICP
LKERRFGAVACGVAMELYVFGGVRSRE
DAQGSEMVTCKSEFYHDEFKRWIYLNDQNLCIPASSSFVYGAVPIGASIYVIGDLDTGTN
YDYVREFKRSTGTWHHTKPLLPSDLRRTGCAALRIANCKLFRLQLQQGLFRIRVHSP
Sequence length 597
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Giant axonal neuropathy 1 Pathogenic; Likely pathogenic rs1313883569, rs1910419866, rs2150687608, rs2150690197, rs2150691981, rs2150691608, rs2150690183, rs776404697, rs2150685528, rs1408504352, rs2150683817, rs2507735349, rs119485088, rs119485090, rs150102659
View all (23 more)
RCV002035230
RCV001389386
RCV001380843
RCV001391001
RCV001380856
View all (34 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic rs779203584 RCV001291091
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck Likely pathogenic rs779203584 RCV005910919
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease Conflicting classifications of pathogenicity; Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
GAN-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis BEFREE 12398836
★☆☆☆☆
Found in Text Mining only
Alexander Disease Alexander disease Pubtator 27798231, 31611638 Associate
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 30525743
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 22689534
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 22734908
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Colon Carcinoma Colon Carcinoma BEFREE 27023907
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Congenital kyphoscoliosis Congenital kyphoscoliosis BEFREE 12398836
★☆☆☆☆
Found in Text Mining only
Distal amyotrophy Distal amyotrophy HPO_DG
★☆☆☆☆
Found in Text Mining only