Gan MGI Mouse Gene Detail - MGI:1890619

Symbol

Gan
Name

giant axonal neuropathy
Synonyms

gigaxonin

Feature Type

protein coding gene
IDs

MGI:1890619
NCBI Gene: 209239
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr8:117884720-117932573 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 63.71 cM
Mapping Data

1 experiment

SNPs within 2kb

1284 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1890619	protein coding gene	Chr8:117884720-117942736 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034172	protein coding gene	Chr8:120294545-120348518 (+)
A/J	MGP_AJ_G0034152	protein coding gene	Chr8:115399718-115446301 (+)
AKR/J	MGP_AKRJ_G0034079	protein coding gene	Chr8:118757003-118803593 (+)
BALB/cJ	MGP_BALBcJ_G0034146	protein coding gene	Chr8:115597370-115655160 (+)
C3H/HeJ	MGP_C3HHeJ_G0033857	protein coding gene	Chr8:119487496-119535457 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034666	protein coding gene	Chr8:124383395-124440253 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031608	protein coding gene	Chr8:108324084-108375471 (+)
CAST/EiJ	MGP_CASTEiJ_G0033184	protein coding gene	Chr8:119318091-119368175 (+)
CBA/J	MGP_CBAJ_G0033830	protein coding gene	Chr8:128866146-128922919 (+)
DBA/2J	MGP_DBA2J_G0033986	protein coding gene	Chr8:114623598-114675733 (+)
FVB/NJ	MGP_FVBNJ_G0033929	protein coding gene	Chr8:113620614-113669134 (+)
LP/J	MGP_LPJ_G0034075	protein coding gene	Chr8:120423466-120474171 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033976	protein coding gene	Chr8:131466666-131517944 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034684	protein coding gene	Chr8:118848423-118896128 (+)
PWK/PhJ	MGP_PWKPhJ_G0032886	protein coding gene	Chr8:114331305-114379147 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032726	protein coding gene	Chr8:117544177-117598549 (+)
WSB/EiJ	MGP_WSBEiJ_G0033300	protein coding gene	Chr8:119566088-119614265 (+)

Human Ortholog

GAN, gigaxonin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GAN, gigaxonin
Synonyms

GAN1, GIG, KLHL16
Links

HGNC:4137

NCBI Gene ID: 8139

neXtProt AC: NX_Q9H2C0

UniProt: Q9H2C0
Chr Location

16q23.2; chr16:81314944-81390809 (+) GRCh38

MGI Vertebrate Homology

Gan stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GAN
Protein SuperFamily

Kelch-like_protein_gigaxonin
Gene Tree

Gan

Diseases

1 with Gan mouse models; 1 with human GAN associations

Human Disease

Mouse Models

giant axonal neuropathy 1

IDs

View 2 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

3 with disease annotations

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Phenotype Summary

17 phenotypes from 2 alleles in 2 genetic backgrounds
17 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Endonuclease-mediated

5
Gene trapped

5
Targeted

6
Incidental Mutations

APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype.

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All GO Annotations

13
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

887
Tissues

159
cDNA Data

12
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gan

ZFIN gan

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All Sequences

34
RefSeq

2
UniProt

2
CCDS

CCDS40490.1

Ensembl

ENSMUSG00000052557 (Evidence)
NCBI Gene

209239

			Length	Strain/Species	Flank
genomic	209239	NCBI Gene Model \| MGI Sequence Detail	47854	C57BL/6J	± kb
transcript	NM_001081151	RefSeq \| MGI Sequence Detail	3454	C57BL/6
polypeptide	Q8CA72	UniProt \| EBI \| MGI Sequence Detail	597	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007836 gigaxonin

(term hierarchy)
InterPro Domains

IPR011705 BTB/Kelch-associated

IPR017096 BTB-kelch protein

IPR000210 BTB/POZ domain

IPR030579 Gigaxonin, BACK domain

IPR047070 Gigaxonin, BTB/POZ domain

IPR006652 Kelch repeat type 1

IPR015915 Kelch-type beta propeller

IPR011333 SKP1/BTB/POZ domain superfamily

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All nucleic 14

cDNA 12

Primer pair 1

Other 1

Microarray probesets 2

Summaries

All 45

Developmental Gene Expression 3

Diseases 3

Gene Ontology 6

Phenotypes 17
Earliest

J:71328 Bomont P, et al., The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet. 2000 Nov;26(3):370-4
Latest

J:346237 Nath B, et al., A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization. J Neurosci. 2023 May 31;43(22):4174-4189

TSS for Gan:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79580	Chr8:117884689-117884706 (+)	-22 bp
Tssr79581	Chr8:117884711-117884774 (+)	23 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24