Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8139
Gene name Gene Name - the full gene name approved by the HGNC.
Gigaxonin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GAN
Synonyms (NCBI Gene) Gene synonyms aliases
GAN1, GIG, KLHL16
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.2
Summary Summary of gene provided in NCBI Entrez 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 prote
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605379 4137 ENSG00000261609
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Giant Axonal Neuropathy giant axonal neuropathy 1 rs370358470, rs1181977802, rs746486469, rs119485088, rs1597407138, rs119485090, rs1597401738, rs747291494, rs1555511978, rs1555511093, rs1555511861, rs771785420, rs1300267158 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Arthritis Arthritis N/A N/A GWAS
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease N/A N/A ClinVar
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Peripheral Neuropathy peripheral neuropathy N/A N/A ClinVar
Associations from Text Mining Disease 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