Shank3 (SH3 and multiple ankyrin repeat domains 3) - Rat Genome Database

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Gene: Shank3 (SH3 and multiple ankyrin repeat domains 3) Rattus norvegicus
Analyze
Symbol: Shank3
Name: SH3 and multiple ankyrin repeat domains 3
RGD ID: 69264
Description: Enables several functions, including SH3 domain binding activity; scaffold protein binding activity; and synaptic receptor adaptor activity. A structural constituent of postsynaptic density. Involved in positive regulation of glutamate receptor signaling pathway and regulation of postsynapse organization. Located in ciliary membrane. Is active in glutamatergic synapse and postsynaptic density, intracellular component. Used to study Phelan-McDermid syndrome. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome and schizophrenia 15. Orthologous to human SHANK3 (SH3 and multiple ankyrin repeat domains 3); PARTICIPATES IN glutamate signaling pathway; INTERACTS WITH 17beta-estradiol; 17beta-estradiol 3-benzoate; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: proline rich synapse associated protein 2; proline-rich synapse-associated protein 2; Prosap2; SH3 and multiple ankyrin repeat domains protein 3; SH3/ankyrin domain gene 3; Shank postsynaptic density protein 3a; SPANK-2
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: Shank3em1Bux  
Genetic Models: SD-Shank3em1Bux
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87122,448,323 - 122,518,623 (+)NCBIGRCr8
mRatBN7.27120,568,707 - 120,630,796 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,570,402 - 120,630,374 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7122,320,620 - 122,382,921 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07124,546,766 - 124,609,064 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07124,515,476 - 124,577,469 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07130,474,278 - 130,534,679 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,474,279 - 130,534,679 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07130,159,246 - 130,220,171 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,817,026 - 127,877,875 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,851,199 - 127,912,102 (+)NCBI
Celera7117,042,941 - 117,102,379 (+)NCBICelera
Cytogenetic Map7q34NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
2,5-hexanedione  (EXP)
2,6-dinitrotoluene  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (ISO)
antirheumatic drug  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
Butylparaben  (EXP)
C60 fullerene  (EXP)
cadmium dichloride  (EXP)
carbendazim  (EXP)
chloroacetaldehyde  (ISO)
chlorpyrifos  (ISO)
cidofovir anhydrous  (ISO)
clodronic acid  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (ISO)
dibutyl phthalate  (EXP)
dicrotophos  (ISO)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
enzacamene  (EXP)
ethanol  (ISO)
fulvestrant  (ISO)
furan  (EXP)
glyphosate  (EXP)
L-methionine  (EXP)
lipopolysaccharide  (EXP)
methapyrilene  (ISO)
methoxychlor  (EXP)
Methylazoxymethanol acetate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-D-aspartic acid  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (EXP)
niclosamide  (ISO)
orphenadrine  (EXP)
ozone  (ISO)
phenanthrene  (ISO)
phenylmercury acetate  (ISO)
phosgene  (ISO)
potassium atom  (EXP)
potassium dichromate  (ISO)
ranitidine  (EXP)
resveratrol  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (ISO)
serpentine asbestos  (ISO)
sirolimus  (ISO)
temozolomide  (ISO)
testosterone  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (ISO)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult behavior  (ISO)
AMPA glutamate receptor clustering  (IEA,ISO,ISS)
associative learning  (IEA,ISO)
brain morphogenesis  (IEA,ISO,ISS)
dendritic spine morphogenesis  (IEA,ISO,ISS)
embryonic epithelial tube formation  (IEA,ISO)
exploration behavior  (ISO)
gene expression  (IEA,ISO)
glial cell proliferation  (IEA,ISO)
guanylate kinase-associated protein clustering  (IEA,ISO,ISS)
learning  (ISO,ISS)
learning or memory  (ISO)
locomotion  (IEA,ISO)
locomotory behavior  (ISO)
locomotory exploration behavior  (IEA,ISO,ISS)
long-term synaptic depression  (IEA,ISO)
long-term synaptic potentiation  (IEA,ISO)
maintenance of postsynaptic density structure  (IC,IEA)
MAPK cascade  (IEA,ISO,ISS)
memory  (IEA,ISO,ISS)
modulation of chemical synaptic transmission  (ISO)
negative regulation of actin filament bundle assembly  (IEA,ISO,ISS)
negative regulation of cell volume  (IEA,ISO,ISS)
neural precursor cell proliferation  (IEA,ISO)
neuromuscular process controlling balance  (IEA,ISO,ISS)
NMDA glutamate receptor clustering  (IEA,ISO,ISS)
positive regulation of dendritic spine development  (IEA,ISO,ISS)
positive regulation of excitatory postsynaptic potential  (IEA,ISO,ISS)
positive regulation of glutamate receptor signaling pathway  (IEA,IMP,ISO,ISS)
positive regulation of long-term neuronal synaptic plasticity  (IEA,ISO,ISS)
positive regulation of long-term synaptic potentiation  (IEA,ISO,ISS)
positive regulation of synapse structural plasticity  (IEA,ISO,ISS)
positive regulation of synaptic transmission, glutamatergic  (IEA,ISO,ISS)
postsynaptic density assembly  (IEA,ISO,ISS)
regulation of AMPA glutamate receptor clustering  (IEA,ISO)
regulation of behavioral fear response  (IEA,ISO,ISS)
regulation of dendritic spine morphogenesis  (IEA,ISO,ISS)
regulation of grooming behavior  (IEA,ISO,ISS)
regulation of long-term synaptic depression  (IEA,ISO,ISS)
regulation of long-term synaptic potentiation  (ISO,ISS)
regulation of postsynapse organization  (IDA,IMP)
regulation of synaptic plasticity  (ISO)
response to interleukin-17  (IEA,ISO)
social behavior  (IEA,ISO,ISS)
striatal medium spiny neuron differentiation  (IEA,ISO,ISS)
synapse assembly  (ISO,ISS)
synapse organization  (IEA)
vocal learning  (ISO)
vocalization behavior  (IEA,ISO,ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. An architectural framework that may lie at the core of the postsynaptic density. Baron MK, etal., Science. 2006 Jan 27;311(5760):531-5.
2. Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin. Bockers TM, etal., J Biol Chem 2001 Oct 26;276(43):40104-12.
3. ProSAP/Shank postsynaptic density proteins interact with insulin receptor tyrosine kinase substrate IRSp53. Bockmann J, etal., J Neurochem. 2002 Nov;83(4):1013-7.
4. Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density. Boeckers TM, etal., J Neurosci 1999 Aug 1;19(15):6506-18.
5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
6. Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation. Grabrucker AM, etal., EMBO J. 2011 Feb 2;30(3):569-81. doi: 10.1038/emboj.2010.336. Epub 2011 Jan 7.
7. Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat. Harony-Nicolas H, etal., Elife. 2017 Jan 31;6. doi: 10.7554/eLife.18904.
8. Nanoscale scaffolding domains within the postsynaptic density concentrate synaptic AMPA receptors. MacGillavry HD, etal., Neuron. 2013 May 22;78(4):615-22. doi: 10.1016/j.neuron.2013.03.009.
9. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
10. Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Naisbitt S, etal., Neuron 1999 Jul;23(3):569-82.
11. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42. Park E, etal., J Biol Chem. 2003 May 23;278(21):19220-9. Epub 2003 Mar 7.
14. Ontogeny of postsynaptic density proteins at glutamatergic synapses. Petralia RS, etal., Mol Cell Neurosci. 2005 Jul;29(3):436-52.
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. Abelson interacting protein 1 (Abi-1) is essential for dendrite morphogenesis and synapse formation. Proepper C, etal., EMBO J. 2007 Mar 7;26(5):1397-409. Epub 2007 Feb 15.
17. Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family. Qualmann B, etal., J Neurosci. 2004 Mar 10;24(10):2481-95.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. Scaffolding proteins in highly purified rat olfactory cilia membranes. Saavedra MV, etal., Neuroreport. 2008 Jul 16;19(11):1123-6. doi: 10.1097/WNR.0b013e3283086797.
21. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
22. Ribosomal S6 kinase 2 interacts with and phosphorylates PDZ domain-containing proteins and regulates AMPA receptor transmission. Thomas GM, etal., Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15006-11. Epub 2005 Oct 10.
23. The G protein-coupled receptor CL1 interacts directly with proteins of the Shank family. Tobaben S, etal., J Biol Chem 2000 Nov 17;275(46):36204-10.
24. Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins. Tu JC, etal., Neuron. 1999 Jul;23(3):583-92.
25. Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses. Verpelli C, etal., J Biol Chem. 2011 Oct 7;286(40):34839-50. doi: 10.1074/jbc.M111.258384. Epub 2011 Jul 27.
26. ProSAP-interacting protein 1 (ProSAPiP1), a novel protein of the postsynaptic density that links the spine-associated Rap-Gap (SPAR) to the scaffolding protein ProSAP2/Shank3. Wendholt D, etal., J Biol Chem. 2006 May 12;281(19):13805-16. Epub 2006 Mar 7.
27. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. Wilson HL, etal., J Med Genet. 2003 Aug;40(8):575-84.
Additional References at PubMed
PMID:10527873   PMID:10806096   PMID:15207857   PMID:15458844   PMID:15569713   PMID:15689539   PMID:16606358   PMID:17173049   PMID:19208628   PMID:19481056   PMID:20800661   PMID:21148417  
PMID:21167025   PMID:21378602   PMID:21423165   PMID:21558424   PMID:23897824   PMID:24211303   PMID:26627310   PMID:26725465   PMID:27144302   PMID:27161151   PMID:27581454   PMID:27592227  
PMID:28263956   PMID:28647360   PMID:29250591   PMID:29377611   PMID:29473168   PMID:29476059   PMID:29735556   PMID:30868621   PMID:31983435   PMID:32199104   PMID:32454040   PMID:32564287  
PMID:33203459   PMID:33945465   PMID:34313403   PMID:35471151   PMID:37392026  


Genomics

Comparative Map Data
Shank3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87122,448,323 - 122,518,623 (+)NCBIGRCr8
mRatBN7.27120,568,707 - 120,630,796 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,570,402 - 120,630,374 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7122,320,620 - 122,382,921 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07124,546,766 - 124,609,064 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07124,515,476 - 124,577,469 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07130,474,278 - 130,534,679 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,474,279 - 130,534,679 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07130,159,246 - 130,220,171 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,817,026 - 127,877,875 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,851,199 - 127,912,102 (+)NCBI
Celera7117,042,941 - 117,102,379 (+)NCBICelera
Cytogenetic Map7q34NCBI
SHANK3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,672,823 - 50,733,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,674,415 - 50,733,212 (+)EnsemblGRCh38hg38GRCh38
GRCh372251,111,251 - 51,171,640 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,459,936 - 49,518,507 (+)NCBINCBI36Build 36hg18NCBI36
Build 342249,449,206 - 49,461,782NCBI
Celera2234,989,101 - 35,047,689 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2234,005,374 - 34,064,052 (+)NCBIHuRef
CHM1_12251,072,241 - 51,130,430 (+)NCBICHM1_1
T2T-CHM13v2.02251,186,790 - 51,246,792 (+)NCBIT2T-CHM13v2.0
Shank3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,376,929 - 89,444,464 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1589,383,826 - 89,444,464 (+)EnsemblGRCm39 Ensembl
GRCm381589,493,013 - 89,560,261 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,499,623 - 89,560,261 (+)EnsemblGRCm38mm10GRCm38
MGSCv371589,330,288 - 89,390,692 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361589,327,624 - 89,386,090 (+)NCBIMGSCv36mm8
Celera1591,629,363 - 91,689,694 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.96NCBI
Shank3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,660,022 - 33,712,796 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,660,025 - 33,714,649 (+)NCBIChiLan1.0ChiLan1.0
SHANK3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22360,590,364 - 60,649,263 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12263,280,722 - 63,339,704 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,951,866 - 30,973,608 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12250,026,620 - 50,071,446 (+)NCBIpanpan1.1PanPan1.1panPan2
SHANK3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11016,621,445 - 16,665,366 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1016,599,507 - 16,646,609 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01017,348,145 - 17,395,273 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1017,348,158 - 17,395,273 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11017,072,629 - 17,119,713 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01017,395,724 - 17,442,764 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01017,527,515 - 17,574,624 (-)NCBIUU_Cfam_GSD_1.0
Shank3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945114,175 - 167,562 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629114,850 - 167,505 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936629114,175 - 168,697 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHANK3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl541,786 - 93,177 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1541,376 - 93,033 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SHANK3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11933,155,695 - 33,209,679 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1933,155,770 - 33,208,224 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604592,115,890 - 92,173,117 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shank3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475272,615 - 127,325 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475272,545 - 127,321 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Shank3
267 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:302
Count of miRNA genes:109
Interacting mature miRNAs:113
Transcripts:ENSRNOT00000045913, ENSRNOT00000047960
Prediction methods:Microtar, Miranda, Rnahybrid
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
2306821Bp335Blood pressure QTL 3350.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7106571501135012528Rat
631687Hcas1Hepatocarcinoma susceptibility QTL 13.90.001liver integrity trait (VT:0010547)liver tumorous lesion volume to total liver volume ratio (CMO:0001082)791412594129807172Rat
2317052Aia17Adjuvant induced arthritis QTL 172.13joint integrity trait (VT:0010548)left rear ankle joint diameter (CMO:0002149)781737938126737938Rat
731174Uae23Urinary albumin excretion QTL 232.40.0042urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)7104603555135012528Rat
634322Bw12Body weight QTL 120body mass (VT:0001259)body weight (CMO:0000012)783153392128153392Rat
634331Pia17Pristane induced arthritis QTL 174.7joint integrity trait (VT:0010548)arthritic paw count (CMO:0001460)773829340130221005Rat
7411654Foco25Food consumption QTL 259.30.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)775918751120918751Rat
7411607Foco15Food consumption QTL 150.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)775918751120918751Rat
1300112Bp183Blood pressure QTL 1833.51arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)7111182207135012528Rat
1300179Kidm5Kidney mass QTL 53.51kidney mass (VT:0002707)left kidney wet weight (CMO:0000083)743747012135012528Rat
1331728Bp214Blood pressure QTL 2142.825arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)780221299124373579Rat
1331731Bp216Blood pressure QTL 2162.851arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7102297359133492884Rat
1331748Bp215Blood pressure QTL 2154.043arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7112308254133492884Rat
1331768Kidm10Kidney mass QTL 104.62096kidney mass (VT:0002707)left kidney wet weight (CMO:0000083)780221299125221299Rat
1354582Stl11Serum triglyceride level QTL 113.42blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)7119513385135012528Rat
1357339Stl14Serum triglyceride level QTL 143.450.0001blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)7112729683133492707Rat
1549899Stresp8Stress response QTL 84.370.0008stress-related behavior trait (VT:0010451)defensive burying duration (CMO:0001961)790482196135012528Rat
1558655Swd4Spike wave discharge measurement QTL 43.680.0002brain electrophysiology trait (VT:0010557)brain spike-and-wave discharge severity grade (CMO:0001988)786983365131983365Rat
1358891Bp265Blood pressure QTL 2652.21arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)783591953134666232Rat
1358914Bp266Blood pressure QTL 266arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)783591953134666232Rat
1582240Sffal1Serum free fatty acids level QTL 13.40.0021blood free fatty acid amount (VT:0001553)serum free fatty acids level (CMO:0000547)7116677010124049952Rat
70173Niddm19Non-insulin dependent diabetes mellitus QTL 194.330.00005blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)764002457135012528Rat
71114Niddm14Non-insulin dependent diabetes mellitus QTL 144.5blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)784257275129257275Rat
631201Panci1Pancreas inflammation QTL 100.001pancreas integrity trait (VT:0010560)percentage of study population displaying chronic pancreatitis at a point in time (CMO:0001214)7116677189127103496Rat
2298475Eau6Experimental allergic uveoretinitis QTL 60.0029uvea integrity trait (VT:0010551)experimental autoimmune uveitis score (CMO:0001504)784257275129257275Rat
2299163Iddm34Insulin dependent diabetes mellitus QTL 342.71blood glucose amount (VT:0000188)age at onset/diagnosis of type 1 diabetes mellitus (CMO:0001140)791281130135012528Rat
731176Glom5Glomerulus QTL 52.50.0035kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli not directly contacting the kidney surface (CMO:0001002)796670164135012528Rat
631663Bw6Body weight QTL 63.4body mass (VT:0001259)body weight (CMO:0000012)7111075573134976056Rat

Markers in Region
D7Got127  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.27120,589,606 - 120,589,895 (+)MAPPERmRatBN7.2
Rnor_6.07130,493,475 - 130,493,763NCBIRnor6.0
Rnor_5.07130,178,453 - 130,178,741UniSTSRnor5.0
RGSC_v3.47127,836,249 - 127,836,538RGDRGSC3.4
RGSC_v3.47127,836,250 - 127,836,538UniSTSRGSC3.4
RGSC_v3.17127,870,479 - 127,870,768RGD
Celera7117,061,748 - 117,062,036UniSTS
RH 3.4 Map7959.0UniSTS
RH 3.4 Map7959.0RGD
RH 2.0 Map7711.2RGD
Cytogenetic Map7q34UniSTS
D7Wox53  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.27120,630,286 - 120,630,485 (+)MAPPERmRatBN7.2
Rnor_6.07130,534,170 - 130,534,368NCBIRnor6.0
Rnor_5.07130,219,662 - 130,219,860UniSTSRnor5.0
RGSC_v3.47127,877,366 - 127,877,564UniSTSRGSC3.4
Celera7117,101,870 - 117,102,068UniSTS
Cytogenetic Map7q34UniSTS
RH143496  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.27120,600,500 - 120,600,646 (+)MAPPERmRatBN7.2
Rnor_6.07130,504,368 - 130,504,513NCBIRnor6.0
Rnor_5.07130,189,345 - 130,189,490UniSTSRnor5.0
RGSC_v3.47127,847,049 - 127,847,194UniSTSRGSC3.4
Celera7117,072,085 - 117,072,230UniSTS
RH 3.4 Map7958.9UniSTS
Cytogenetic Map7q34UniSTS
BE108630  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.27120,590,475 - 120,590,627 (+)MAPPERmRatBN7.2
Rnor_6.07130,494,344 - 130,494,495NCBIRnor6.0
Rnor_5.07130,179,322 - 130,179,473UniSTSRnor5.0
RGSC_v3.47127,837,119 - 127,837,270UniSTSRGSC3.4
Celera7117,062,617 - 117,062,768UniSTS
RH 3.4 Map7959.3UniSTS
Cytogenetic Map7q34UniSTS
BF405313  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.27120,590,605 - 120,590,788 (+)MAPPERmRatBN7.2
Rnor_6.07130,494,474 - 130,494,656NCBIRnor6.0
Rnor_5.07130,179,452 - 130,179,634UniSTSRnor5.0
RGSC_v3.47127,837,249 - 127,837,431UniSTSRGSC3.4
Celera7117,062,747 - 117,062,929UniSTS
RH 3.4 Map7958.2UniSTS
Cytogenetic Map7q34UniSTS


Genetic Models
This gene Shank3 is modified in the following models/strains:


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 33 6 6 5 6 71 23 26 11
Low 3 10 51 35 14 35 8 11 3 12 15 8
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063264179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063264180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063264181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_010053036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC125982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF133301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF159047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS301518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSRNOT00000085191   ⟹   ENSRNOP00000071295
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl7120,570,402 - 120,628,875 (+)Ensembl
Rnor_6.0 Ensembl7130,474,508 - 130,532,758 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000092299
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl7130,532,435 - 130,533,587 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000092388   ⟹   ENSRNOP00000075892
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl7120,570,402 - 120,629,247 (+)Ensembl
Rnor_6.0 Ensembl7130,474,279 - 130,532,234 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000092413
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl7120,570,402 - 120,630,374 (+)Ensembl
Rnor_6.0 Ensembl7130,475,972 - 130,532,234 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000092431   ⟹   ENSRNOP00000075760
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl7120,570,402 - 120,629,247 (+)Ensembl
Rnor_6.0 Ensembl7130,498,199 - 130,532,234 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000092535   ⟹   ENSRNOP00000075887
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl7120,570,574 - 120,630,374 (+)Ensembl
Rnor_6.0 Ensembl7130,532,435 - 130,534,679 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000092672   ⟹   ENSRNOP00000075813
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl7130,532,435 - 130,532,758 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000092684   ⟹   ENSRNOP00000075759
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl7130,498,199 - 130,532,179 (+)Ensembl
RefSeq Acc Id: NM_021676   ⟹   NP_067708
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,323 - 122,510,410 (+)NCBI
mRatBN7.27120,568,707 - 120,630,796 (+)NCBI
Rnor_6.07130,474,278 - 130,534,679 (+)NCBI
Rnor_5.07130,159,246 - 130,220,171 (+)NCBI
RGSC_v3.47127,817,026 - 127,877,875 (+)RGD
Celera7117,042,941 - 117,102,379 (+)RGD
Sequence:
RefSeq Acc Id: XM_039079818   ⟹   XP_038935746
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,510,410 (+)NCBI
mRatBN7.27120,568,717 - 120,630,796 (+)NCBI
RefSeq Acc Id: XM_039079820   ⟹   XP_038935748
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,510,410 (+)NCBI
mRatBN7.27120,568,717 - 120,628,429 (+)NCBI
RefSeq Acc Id: XM_039079821   ⟹   XP_038935749
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,508,334 (+)NCBI
mRatBN7.27120,568,717 - 120,628,716 (+)NCBI
RefSeq Acc Id: XM_039079822   ⟹   XP_038935750
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,510,410 (+)NCBI
mRatBN7.27120,568,717 - 120,630,796 (+)NCBI
RefSeq Acc Id: XM_039079826   ⟹   XP_038935754
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,510,410 (+)NCBI
mRatBN7.27120,568,711 - 120,630,796 (+)NCBI
RefSeq Acc Id: XM_063264179   ⟹   XP_063120249
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,518,623 (+)NCBI
RefSeq Acc Id: XM_063264180   ⟹   XP_063120250
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,510,410 (+)NCBI
RefSeq Acc Id: XM_063264181   ⟹   XP_063120251
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,487,906 (+)NCBI
RefSeq Acc Id: XR_010053036
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87122,448,331 - 122,517,859 (+)NCBI
RefSeq Acc Id: NP_067708   ⟸   NM_021676
- UniProtKB: Q9WV47 (UniProtKB/Swiss-Prot),   Q9WUY7 (UniProtKB/Swiss-Prot),   Q9JLU4 (UniProtKB/Swiss-Prot),   A0A0U1RS13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000075892   ⟸   ENSRNOT00000092388
RefSeq Acc Id: ENSRNOP00000075759   ⟸   ENSRNOT00000092684
RefSeq Acc Id: ENSRNOP00000075813   ⟸   ENSRNOT00000092672
RefSeq Acc Id: ENSRNOP00000075887   ⟸   ENSRNOT00000092535
RefSeq Acc Id: ENSRNOP00000075760   ⟸   ENSRNOT00000092431
RefSeq Acc Id: ENSRNOP00000071295   ⟸   ENSRNOT00000085191
RefSeq Acc Id: XP_038935754   ⟸   XM_039079826
- Peptide Label: isoform X7
- UniProtKB: A0A0U1RS08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935750   ⟸   XM_039079822
- Peptide Label: isoform X4
- UniProtKB: Q9WV47 (UniProtKB/Swiss-Prot),   Q9WUY7 (UniProtKB/Swiss-Prot),   Q9JLU4 (UniProtKB/Swiss-Prot),   A0A8I5ZTC4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935746   ⟸   XM_039079818
- Peptide Label: isoform X1
- UniProtKB: Q9WV47 (UniProtKB/Swiss-Prot),   Q9WUY7 (UniProtKB/Swiss-Prot),   Q9JLU4 (UniProtKB/Swiss-Prot),   A0A0U1RRP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935749   ⟸   XM_039079821
- Peptide Label: isoform X3
- UniProtKB: Q9WV47 (UniProtKB/Swiss-Prot),   Q9WUY7 (UniProtKB/Swiss-Prot),   Q9JLU4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_038935748   ⟸   XM_039079820
- Peptide Label: isoform X2
- UniProtKB: Q9WV47 (UniProtKB/Swiss-Prot),   Q9WUY7 (UniProtKB/Swiss-Prot),   Q9JLU4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_063120249   ⟸   XM_063264179
- Peptide Label: isoform X5
RefSeq Acc Id: XP_063120250   ⟸   XM_063264180
- Peptide Label: isoform X6
RefSeq Acc Id: XP_063120251   ⟸   XM_063264181
- Peptide Label: isoform X8
Protein Domains
PDZ   SAM   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9JLU4-F1-model_v2 AlphaFold Q9JLU4 1-1740 view protein structure

Transcriptome

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

Promoters
RGD ID:13695606
Promoter ID:EPDNEW_R6116
Type:single initiation site
Name:Shank3_1
Description:SH3 and multiple ankyrin repeat domains 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.07130,474,449 - 130,474,509EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:69264 AgrOrtholog
BioCyc Gene G2FUF-32429 BioCyc
Ensembl Genes ENSRNOG00000052296 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000085191.2 UniProtKB/TrEMBL
  ENSRNOT00000092388 ENTREZGENE
  ENSRNOT00000092388.2 UniProtKB/TrEMBL
  ENSRNOT00000092413.2 UniProtKB/TrEMBL
  ENSRNOT00000092431.2 UniProtKB/TrEMBL
  ENSRNOT00000092535.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:59312 UniProtKB/Swiss-Prot
NCBI Gene 59312 ENTREZGENE
PANTHER SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Shank3 PhenoGen
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000052296 RatGTEx
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGR TC204614
UniProt A0A0G2K042_RAT UniProtKB/TrEMBL
  A0A0U1RRP5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RS08 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RS13 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5ZTC4 ENTREZGENE, UniProtKB/TrEMBL
  Q9JLU4 ENTREZGENE
  Q9WUY7 ENTREZGENE
  Q9WV47 ENTREZGENE
  SHAN3_RAT UniProtKB/Swiss-Prot
UniProt Secondary Q9WUY7 UniProtKB/Swiss-Prot
  Q9WV47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-11-04 Shank3  SH3 and multiple ankyrin repeat domains 3  Shank3  SH3/ankyrin domain gene 3  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2002-06-10 Shank3  SH3/ankyrin domain gene 3      Name updated 70584 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_domains contains ankyrin repeats, an Src homology 3 (SH3) domain, a PSD-95/discs large/ZO-1 (PDZ) domain, several proline-rich regions, and a C-terminal sterile alpha-motif (SAM) domain 628460
gene_expression expressed in the brain 628460
gene_function master scaffold for glutamate receptor complexes in postsynaptic specialization 628460
gene_physical_interaction binds to the cytoskeletal protein Spna2 (alpha-fodrin) 628460
gene_process mediates organization of the subsynaptic scaffold by interacting with several synaptic proteins including the glutamate receptors 628460
gene_protein ankyrin repeats are responsible for the binding to Spna2 628460