Atxn7 (ataxin 7) - Rat Genome Database

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Gene: Atxn7 (ataxin 7) Rattus norvegicus
Analyze
Symbol: Atxn7
Name: ataxin 7
RGD ID: 1562692
Description: Predicted to enable chromatin binding activity. Predicted to be involved in microtubule cytoskeleton organization; negative regulation of microtubule depolymerization; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytosol; microtubule cytoskeleton; and nucleoplasm. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 7. Orthologous to human ATXN7 (ataxin 7); PARTICIPATES IN RNA polymerase II transcription initiation pathway; INTERACTS WITH 17beta-estradiol; amphetamine; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ataxin-7; LOC361015; RGD1562692; similar to spinocerebellar ataxia 7 homolog
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81513,547,859 - 13,693,311 (-)NCBIGRCr8
mRatBN7.21511,117,360 - 11,262,818 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1511,118,886 - 11,263,106 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01512,421,432 - 12,569,649 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1512,425,175 - 12,513,931 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01516,452,707 - 16,597,558 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41512,669,541 - 12,758,262 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1511,124,309 - 11,269,085 (-)NCBICelera
Cytogenetic Map15p16NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Comprehensive gene review and curation RGD comprehensive gene curation
5. ATAC-king the complexity of SAGA during evolution. Spedale G, etal., Genes Dev. 2012 Mar 15;26(6):527-41. doi: 10.1101/gad.184705.111.
Additional References at PubMed
PMID:12039035   PMID:14613968   PMID:18206972   PMID:18216249   PMID:22100762  


Genomics

Comparative Map Data
Atxn7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81513,547,859 - 13,693,311 (-)NCBIGRCr8
mRatBN7.21511,117,360 - 11,262,818 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1511,118,886 - 11,263,106 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01512,421,432 - 12,569,649 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1512,425,175 - 12,513,931 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01516,452,707 - 16,597,558 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41512,669,541 - 12,758,262 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1511,124,309 - 11,269,085 (-)NCBICelera
Cytogenetic Map15p16NCBI
ATXN7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38363,863,144 - 64,003,462 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl363,863,155 - 64,003,462 (+)EnsemblGRCh38hg38GRCh38
GRCh37363,848,820 - 63,989,138 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36363,825,273 - 63,961,367 (+)NCBINCBI36Build 36hg18NCBI36
Build 34363,825,272 - 63,961,367NCBI
Celera363,866,997 - 64,005,909 (+)NCBICelera
Cytogenetic Map3p14.1NCBI
HuRef363,947,138 - 64,086,205 (+)NCBIHuRef
CHM1_1363,801,559 - 63,940,470 (+)NCBICHM1_1
T2T-CHM13v2.0363,906,771 - 64,047,076 (+)NCBIT2T-CHM13v2.0
Atxn7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39148,358,358 - 8,508,324 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl148,362,461 - 8,508,323 (-)EnsemblGRCm39 Ensembl
GRCm381413,961,283 - 14,107,316 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1413,961,440 - 14,107,302 (+)EnsemblGRCm38mm10GRCm38
MGSCv371414,845,005 - 14,939,816 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361412,805,758 - 12,897,327 (+)NCBIMGSCv36mm8
Celera149,673,051 - 9,770,917 (+)NCBICelera
Cytogenetic Map14A1NCBI
cM Map147.08NCBI
Atxn7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555171,892,757 - 1,980,524 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555171,897,050 - 1,980,428 (-)NCBIChiLan1.0ChiLan1.0
ATXN7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2263,784,589 - 63,922,070 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1363,789,226 - 63,929,576 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0363,766,480 - 63,906,913 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1365,249,146 - 65,284,762 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl365,194,703 - 65,280,879 (+)Ensemblpanpan1.1panPan2
ATXN7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12027,226,957 - 27,335,327 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2027,224,375 - 27,333,445 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2027,151,293 - 27,291,175 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02027,463,951 - 27,603,969 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2027,465,495 - 27,556,457 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12026,960,721 - 27,100,621 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02027,311,169 - 27,450,739 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02027,415,760 - 27,555,632 (-)NCBIUU_Cfam_GSD_1.0
Atxn7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118164,032,909 - 164,167,774 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366372,426,498 - 2,508,686 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366372,422,260 - 2,508,681 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATXN7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1345,401,127 - 45,498,180 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11345,356,350 - 45,514,816 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21349,908,555 - 49,956,739 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATXN7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12224,897,045 - 25,046,188 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2224,945,248 - 25,033,687 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041141,766,784 - 141,918,997 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atxn7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248881,914,063 - 1,999,755 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248881,910,385 - 2,045,038 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Atxn7
611 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:30
Count of miRNA genes:26
Interacting mature miRNAs:29
Transcripts:ENSRNOT00000010103
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1354657Despr13Despair related QTL 130.0022locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)15129912054Rat
8552920Pigfal8Plasma insulin-like growth factor 1 level QTL 83blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)15134723002Rat
8694361Abfw6Abdominal fat weight QTL 610.20.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)15134723002Rat
9589149Insul29Insulin level QTL 299.060.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)15134723002Rat
731170Pur3Proteinuria QTL 32.30.0005urine protein amount (VT:0005160)urine protein excretion rate (CMO:0000759)15141686771Rat
1641887Alcrsp14Alcohol response QTL 14response to alcohol trait (VT:0010489)brain neurotensin receptor 1 density (CMO:0002068)15142356671Rat
2298549Neuinf12Neuroinflammation QTL 123.5nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)15155302115Rat
10401805Kidm51Kidney mass QTL 51kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1530632945306329Rat
5684946Bss98Bone structure and strength QTL 983.90.0026tibia strength trait (VT:1000284)tibia ultimate force (CMO:0001734)15105825014481294Rat
1641913Colcr2Colorectal carcinoma resistance QTL 26.570.0197intestine integrity trait (VT:0010554)colorectal tumor number (CMO:0001794)15226636822711984Rat
1641913Colcr2Colorectal carcinoma resistance QTL 26.570.0197intestine integrity trait (VT:0010554)poorly differentiated malignant colorectal tumor number (CMO:0002076)15226636822711984Rat
738017Hcas7Hepatocarcinoma susceptibility QTL 72.91liver integrity trait (VT:0010547)liver nonremodeling tumorous lesion volume to total liver volume ratio (CMO:0001464)15226636846921453Rat
1582251Gluco24Glucose level QTL 243.20.0008blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)15553075650530756Rat
631273Lecl2Lens clarity QTL 20.001lens clarity trait (VT:0001304)age of onset/diagnosis of cataract (CMO:0001584)151059608955596089Rat
2300167Bmd63Bone mineral density QTL 635.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
2300173Bmd62Bone mineral density QTL 6212.80.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
2293688Bss29Bone structure and strength QTL 295.310.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)151111114256111142Rat


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 12 2 19 2 13 25 23 11
Low 3 43 45 39 39 8 11 61 10 18 8
Below cutoff

Sequence


RefSeq Acc Id: ENSRNOT00000010103   ⟹   ENSRNOP00000010103
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1511,118,886 - 11,208,575 (-)Ensembl
Rnor_6.0 Ensembl1512,425,175 - 12,513,931 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000106246   ⟹   ENSRNOP00000078901
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1511,118,886 - 11,263,106 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000120150   ⟹   ENSRNOP00000079232
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1511,118,886 - 11,210,902 (-)Ensembl
RefSeq Acc Id: NM_001427063   ⟹   NP_001413992
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81513,547,862 - 13,693,311 (-)NCBI
RefSeq Acc Id: XM_017599841   ⟹   XP_017455330
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81513,547,859 - 13,642,757 (-)NCBI
mRatBN7.21511,117,360 - 11,211,144 (-)NCBI
Rnor_6.01512,421,432 - 12,514,635 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039093747   ⟹   XP_038949675
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81513,547,859 - 13,642,757 (-)NCBI
mRatBN7.21511,117,360 - 11,211,145 (-)NCBI
RefSeq Acc Id: XM_039093748   ⟹   XP_038949676
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81513,547,859 - 13,642,757 (-)NCBI
mRatBN7.21511,117,360 - 11,211,143 (-)NCBI
RefSeq Acc Id: XM_039093749   ⟹   XP_038949677
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81513,547,859 - 13,642,757 (-)NCBI
mRatBN7.21511,117,360 - 11,211,144 (-)NCBI
RefSeq Acc Id: XP_017455330   ⟸   XM_017599841
- Peptide Label: isoform X1
- UniProtKB: A0A8I6G445 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000010103   ⟸   ENSRNOT00000010103
RefSeq Acc Id: XP_038949675   ⟸   XM_039093747
- Peptide Label: isoform X2
- UniProtKB: A0A8I6G445 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038949677   ⟸   XM_039093749
- Peptide Label: isoform X4
- UniProtKB: A0A8I6G445 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038949676   ⟸   XM_039093748
- Peptide Label: isoform X3
- UniProtKB: A0A8I5ZME5 (UniProtKB/TrEMBL),   A0A8I6G445 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000078901   ⟸   ENSRNOT00000106246
RefSeq Acc Id: ENSRNOP00000079232   ⟸   ENSRNOT00000120150
RefSeq Acc Id: NP_001413992   ⟸   NM_001427063
- UniProtKB: A0A8I6G445 (UniProtKB/TrEMBL),   D3ZKZ8 (UniProtKB/TrEMBL)
Protein Domains
SCA7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZKZ8-F1-model_v2 AlphaFold D3ZKZ8 1-860 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1562692 AgrOrtholog
BioCyc Gene G2FUF-14378 BioCyc
Ensembl Genes ENSRNOG00000007246 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000010103.7 UniProtKB/TrEMBL
  ENSRNOT00000106246.1 UniProtKB/TrEMBL
  ENSRNOT00000120150.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.670 UniProtKB/TrEMBL
InterPro SCA7 UniProtKB/TrEMBL
KEGG Report rno:361015 UniProtKB/TrEMBL
NCBI Gene 361015 ENTREZGENE
PANTHER ATAXIN 7 RELATED UniProtKB/TrEMBL
  PTHR15117:SF2 UniProtKB/TrEMBL
Pfam SCA7 UniProtKB/TrEMBL
PhenoGen Atxn7 PhenoGen
PROSITE SCA7 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000007246 RatGTEx
UniProt A0A8I5ZME5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6G445 ENTREZGENE, UniProtKB/TrEMBL
  D3ZKZ8 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-02-29 Atxn7  ataxin 7  RGD1562692_predicted  similar to spinocerebellar ataxia 7 homolog (predicted)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-03-07 RGD1562692_predicted  similar to spinocerebellar ataxia 7 homolog (predicted)  LOC361015  similar to spinocerebellar ataxia 7 homolog  Symbol and Name status set to approved 1299863 APPROVED
2006-02-09 LOC361015  similar to spinocerebellar ataxia 7 homolog      Symbol and Name status set to provisional 70820 PROVISIONAL