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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
720
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV001782173
RCV002045325
RCV001922180
RCV001949070
RCV002022298
RCV002244231
RCV002283841
RCV000005333
RCV000005336
RCV002819476
RCV002891149
RCV003129575
RCV003129576
RCV003145792
RCV000763387
RCV003221340
RCV003504958
RCV003505647
RCV003612603
RCV003613143
RCV003613457
RCV003611153
RCV003850021
RCV000542728
RCV000533057
RCV000534049
RCV000735275
RCV000789758
RCV000789764
RCV000789769
RCV000789127
RCV000850555
RCV001095725
RCV001293031
Intellectual disability Likely pathogenic rs779203584 RCV001291091
See cases Likely pathogenic; Pathogenic rs1555511978 RCV002287422
Squamous cell carcinoma of the head and neck Likely pathogenic rs779203584 RCV005910919
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs41484544 RCV005894544
Charcot-Marie-Tooth disease Conflicting classifications of pathogenicity; Uncertain significance rs200749953, rs587781251, rs587779384, rs1597401492, rs1246053880 RCV000144871
RCV000144875
RCV000144881
RCV000789135
RCV000789136
GAN-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs774365963, rs146576740, rs73589395, rs1267654719, rs77470936, rs150344737, rs79901179, rs113655220, rs150102659, rs372665411 RCV003946417
RCV003920024
RCV003967789
RCV003912104
RCV003920359
RCV003920360
RCV003912594
RCV003925301
RCV003979982
RCV003955530
Giant axonal neuropathy Conflicting classifications of pathogenicity; Uncertain significance rs144486241, rs2507724261 RCV003320356
RCV003320397
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alexander Disease Associate 27798231, 31611638
Charcot Marie Tooth Disease Associate 26492578, 26556829
Genetic Diseases Inborn Associate 26492578
Giant Axonal Neuropathy Associate 17331252, 17578852, 19168853, 19520207, 26460568, 26700320, 27798231, 28300918, 31944090, 34114613, 37043392, 37903270, 3880753
Giant Axonal Neuropathy Inhibit 25398950
Head and Neck Neoplasms Associate 25331947
Neoplasms Associate 24999092, 25331947
Neurodegenerative Diseases Associate 19168853, 31944090
Peripheral Nervous System Diseases Associate 26556829
Respiratory Tract Diseases Associate 28300918