Atxn7 MGI Mouse Gene Detail - MGI:2179277

Symbol

Atxn7
Name

ataxin 7
Synonyms

A430107N12Rik, ataxin-7, Sca7

Feature Type

protein coding gene
IDs

MGI:2179277
NCBI Gene: 246103
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr14:8362461-8508323 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 7.08 cM
Mapping Data

3 experiments

SNPs within 2kb

3456 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2179277	protein coding gene	Chr14:8358358-8508324 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021005	protein coding gene	Chr14:6537829-6629004 (+)
A/J	MGP_AJ_G0020953	protein coding gene	Chr14:6383873-6480050 (+)
AKR/J	MGP_AKRJ_G0020930	protein coding gene	Chr14:6482371-6575480 (+)
BALB/cJ	MGP_BALBcJ_G0020956	protein coding gene	Chr14:6392852-6489266 (+)
C3H/HeJ	MGP_C3HHeJ_G0020740	protein coding gene	Chr14:6579909-6676371 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021389	protein coding gene	Chr14:6717682-6816736 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018958	protein coding gene	Chr14:7028623-7120499 (+)
CAST/EiJ	MGP_CASTEiJ_G0020262	protein coding gene	Chr14:6565121-6657260 (+)
CBA/J	MGP_CBAJ_G0020706	protein coding gene	Chr14:6966350-7069239 (+)
DBA/2J	MGP_DBA2J_G0020829	protein coding gene	Chr14:6303081-6397871 (+)
FVB/NJ	MGP_FVBNJ_G0020811	protein coding gene	Chr14:6235059-6326362 (+)
LP/J	MGP_LPJ_G0020905	protein coding gene	Chr14:6556922-6655968 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020837	protein coding gene	Chr14:7013327-7109045 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021422	protein coding gene	Chr14:6437997-6544184 (+)
PWK/PhJ	MGP_PWKPhJ_G0020014	protein coding gene	Chr14:6300853-6391133 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019834	protein coding gene	Chr14:6543785-6638203 (+)
WSB/EiJ	MGP_WSBEiJ_G0020320	protein coding gene	Chr14:6476317-6572724 (+)

Human Ortholog

ATXN7, ataxin 7

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATXN7, ataxin 7
Synonyms

ADCAII, OPCA3, SCA7, SGF73
Links

HGNC:10560

NCBI Gene ID: 6314

neXtProt AC: NX_O15265

UniProt: O15265
Chr Location

3p14.1; chr3:63863144-64003462 (+) GRCh38

MGI Vertebrate Homology

Atxn7 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: ATXN7
Gene Tree

Atxn7

Diseases

1 with Atxn7 mouse models; 1 with human ATXN7 associations

Human Disease

Mouse Models

spinocerebellar ataxia type 7

IDs

View 5 models

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

Mutations/Alleles

1 with disease annotations

References

4 with disease annotations

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Phenotype Summary

28 phenotypes from 2 alleles in 4 genetic backgrounds
15 phenotypes from multigenic genotypes
1 images
22 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

7
Endonuclease-mediated

2
Gene trapped

1
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age.

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All GO Annotations

27
GO References

13

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

1508
Tissues

123
cDNA Data

46
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atxn7

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All Sequences

66
RefSeq

15
UniProt

4
CCDS

CCDS26823.1

Ensembl

ENSMUSG00000021738 (Evidence)
NCBI Gene

246103

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021738	Ensembl Gene Model \| MGI Sequence Detail	145863	C57BL/6J	± kb
transcript	ENSMUST00000223714	Ensembl \| MGI Sequence Detail	2954	Not Applicable
polypeptide	ENSMUSP00000153613	Ensembl \| MGI Sequence Detail	920	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004508 ataxin-7

(term hierarchy)
InterPro Domains

IPR052237 Ataxin-7-like transcription regulator

IPR013243 SCA7 domain
GlyGen

Q8R4I1 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 49

Genomic 1

cDNA 46

Primer pair 2

Microarray probesets 4

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MGI:1925682, MGI:2145682

Summaries

All 74

Developmental Gene Expression 4

Diseases 4

Gene Ontology 13

Phenotypes 22
Earliest

J:19723 Nishiguchi S, et al., A survey of genes expressed in undifferentiated mouse embryonal carcinoma F9 cells: characterization of low-abundance mRNAs. J Biochem. 1994 Jul;116(1):128-39
Latest

J:351184 Zhou C, et al., Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death. Nat Commun. 2024 Jan 12;15(1):499

TSS for Atxn7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr124299	Chr14:8508477-8508506 (-)	-169 bp
Tssr124300	Chr14:8493607-8493616 (-)	14,711 bp
Tssr124301	Chr14:8469767-8469770 (-)	38,554 bp
Tssr124302	Chr14:8457070-8457136 (-)	51,220 bp
Tssr124303	Chr14:8456568-8456638 (-)	51,720 bp
Tssr124304	Chr14:8456189-8456234 (-)	52,111 bp
Tssr124305	Chr14:8401878-8401893 (-)	106,437 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)
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