SHISA2 (shisa family member 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: SHISA2 (shisa family member 2) Homo sapiens
Analyze
Symbol: SHISA2
Name: shisa family member 2
RGD ID: 1353356
HGNC Page HGNC:20366
Description: Predicted to be involved in negative regulation of Wnt signaling pathway and negative regulation of fibroblast growth factor receptor signaling pathway. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bA398O19.2; C13orf13; chromosome 13 open reading frame 13; hShisa; PRO28631; protein shisa-2 homolog; shisa homolog 2; TMEM46; transmembrane protein 46; WGAR9166
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381326,044,597 - 26,052,016 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1326,044,597 - 26,052,016 (-)EnsemblGRCh38hg38GRCh38
GRCh371326,618,735 - 26,626,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361325,516,735 - 25,523,198 (-)NCBINCBI36Build 36hg18NCBI36
Celera137,686,949 - 7,693,412 (-)NCBICelera
Cytogenetic Map13q12.13NCBI
HuRef137,436,767 - 7,443,244 (-)NCBIHuRef
CHM1_11326,586,869 - 26,593,340 (-)NCBICHM1_1
T2T-CHM13v2.01325,258,479 - 25,265,905 (-)NCBIT2T-CHM13v2.0
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)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-palmitoylglycerol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
chloroethene  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
folic acid  (ISO)
hydralazine  (EXP)
indole-3-methanol  (ISO)
iron dichloride  (EXP)
L-methionine  (ISO)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
Monobutylphthalate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (EXP)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
progesterone  (ISO)
raloxifene  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
Tributyltin oxide  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:15340161   PMID:17481602   PMID:18976975   PMID:21873635   PMID:22889411   PMID:26186194   PMID:26638075   PMID:28514442   PMID:29568061   PMID:30194290  
PMID:30639242   PMID:32296183   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
SHISA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381326,044,597 - 26,052,016 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1326,044,597 - 26,052,016 (-)EnsemblGRCh38hg38GRCh38
GRCh371326,618,735 - 26,626,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361325,516,735 - 25,523,198 (-)NCBINCBI36Build 36hg18NCBI36
Celera137,686,949 - 7,693,412 (-)NCBICelera
Cytogenetic Map13q12.13NCBI
HuRef137,436,767 - 7,443,244 (-)NCBIHuRef
CHM1_11326,586,869 - 26,593,340 (-)NCBICHM1_1
T2T-CHM13v2.01325,258,479 - 25,265,905 (-)NCBIT2T-CHM13v2.0
Shisa2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391459,862,730 - 59,869,109 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1459,862,757 - 59,869,109 (+)EnsemblGRCm39 Ensembl
GRCm381459,625,281 - 59,631,660 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1459,625,308 - 59,631,660 (+)EnsemblGRCm38mm10GRCm38
MGSCv371460,244,118 - 60,250,497 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361458,579,418 - 58,585,765 (+)NCBIMGSCv36mm8
Celera1457,427,718 - 57,434,097 (+)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1431.49NCBI
Shisa2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81537,982,913 - 37,987,211 (+)NCBIGRCr8
mRatBN7.21533,806,715 - 33,811,013 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1533,805,958 - 33,811,013 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1535,666,380 - 35,670,677 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01536,817,057 - 36,821,354 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01535,267,861 - 35,272,159 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01539,945,095 - 39,949,393 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1539,945,095 - 39,949,393 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01543,763,011 - 43,767,309 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41538,740,511 - 38,744,809 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1533,515,522 - 33,519,820 (+)NCBICelera
Cytogenetic Map15p12NCBI
Shisa2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554975,433,050 - 5,459,680 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554975,453,682 - 5,459,680 (-)NCBIChiLan1.0ChiLan1.0
SHISA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21425,644,213 - 25,650,807 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11316,752,327 - 16,758,929 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0137,337,763 - 7,345,166 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11325,687,174 - 25,693,594 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1325,687,174 - 25,693,594 (-)Ensemblpanpan1.1panPan2
SHISA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha2513,542,704 - 13,549,314 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02513,608,738 - 13,614,776 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2513,608,738 - 13,614,062 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12513,491,729 - 13,497,758 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02513,487,731 - 13,493,761 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02513,535,502 - 13,541,553 (+)NCBIUU_Cfam_GSD_1.0
Shisa2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945115,666,071 - 115,672,773 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936688278,789 - 285,153 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936688278,789 - 285,129 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHISA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl113,806,302 - 3,812,170 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1113,806,297 - 3,812,170 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2113,039,207 - 3,044,963 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SHISA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.135,391,982 - 5,397,028 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl35,392,461 - 5,396,931 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605739,029,376 - 39,035,890 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shisa2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477612,461,903 - 12,468,508 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477612,462,553 - 12,469,593 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHISA2
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 copy number loss See cases [RCV000511657] Chr13:23552966..27027909 [GRCh37]
Chr13:13q12.12-12.13		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2		 drug response
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13		 pathogenic
NM_001007538.2(SHISA2):c.269A>G (p.Asn90Ser) single nucleotide variant not specified [RCV004317920] Chr13:26050707 [GRCh38]
Chr13:26624845 [GRCh37]
Chr13:13q12.13		 uncertain significance
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3		 likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q12.13(chr13:26423441-26738780)x1 copy number loss not provided [RCV001833068] Chr13:26423441..26738780 [GRCh37]
Chr13:13q12.13		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.13(chr13:25967889-27105105)x3 copy number gain not provided [RCV001829198] Chr13:25967889..27105105 [GRCh37]
Chr13:13q12.13		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001007538.2(SHISA2):c.398C>T (p.Ser133Phe) single nucleotide variant not specified [RCV004312293] Chr13:26047003 [GRCh38]
Chr13:26621141 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.134A>G (p.Gln45Arg) single nucleotide variant not specified [RCV004107658] Chr13:26050842 [GRCh38]
Chr13:26624980 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.521G>A (p.Arg174Gln) single nucleotide variant not specified [RCV004194281] Chr13:26046880 [GRCh38]
Chr13:26621018 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.733C>T (p.Pro245Ser) single nucleotide variant not specified [RCV004153054] Chr13:26046668 [GRCh38]
Chr13:26620806 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.338C>T (p.Pro113Leu) single nucleotide variant not specified [RCV004166401] Chr13:26047063 [GRCh38]
Chr13:26621201 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.13C>A (p.Arg5Ser) single nucleotide variant not specified [RCV004090542] Chr13:26050963 [GRCh38]
Chr13:26625101 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.8G>C (p.Gly3Ala) single nucleotide variant not specified [RCV004186681] Chr13:26050968 [GRCh38]
Chr13:26625106 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.284G>T (p.Gly95Val) single nucleotide variant not specified [RCV004154812] Chr13:26050692 [GRCh38]
Chr13:26624830 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.302G>C (p.Arg101Pro) single nucleotide variant not specified [RCV004258316] Chr13:26050674 [GRCh38]
Chr13:26624812 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.587G>A (p.Arg196Gln) single nucleotide variant not specified [RCV004261017] Chr13:26046814 [GRCh38]
Chr13:26620952 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.169C>G (p.Arg57Gly) single nucleotide variant not specified [RCV004253107] Chr13:26050807 [GRCh38]
Chr13:26624945 [GRCh37]
Chr13:13q12.13		 uncertain significance
GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 copy number gain not specified [RCV003987034] Chr13:23329180..28663294 [GRCh37]
Chr13:13q12.12-12.2		 uncertain significance
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 copy number gain not provided [RCV004442747] Chr13:19436287..36278224 [GRCh37]
Chr13:13q11-13.3		 uncertain significance
NM_001007538.2(SHISA2):c.422G>C (p.Arg141Thr) single nucleotide variant not specified [RCV004451040] Chr13:26046979 [GRCh38]
Chr13:26621117 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.536G>A (p.Arg179His) single nucleotide variant not specified [RCV004451042] Chr13:26046865 [GRCh38]
Chr13:26621003 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.583G>A (p.Ala195Thr) single nucleotide variant not specified [RCV004451043] Chr13:26046818 [GRCh38]
Chr13:26620956 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.140T>C (p.Val47Ala) single nucleotide variant not specified [RCV004451039] Chr13:26050836 [GRCh38]
Chr13:26624974 [GRCh37]
Chr13:13q12.13		 uncertain significance
NM_001007538.2(SHISA2):c.475C>T (p.Arg159Cys) single nucleotide variant not specified [RCV004451041] Chr13:26046926 [GRCh38]
Chr13:26621064 [GRCh37]
Chr13:13q12.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:739
Count of miRNA genes:544
Interacting mature miRNAs:580
Transcripts:ENST00000319420
Prediction methods: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.

Markers in Region
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
RH75489  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p15UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map16p13.12UniSTS


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 sensory system adipose tissue appendage entire extraembryonic component
High
Medium 20 5 553 7 14 7 293 70 58 83 82 679 1 53
Low 686 208 517 185 196 69 2721 816 2506 247 771 708 121 880 1775
Below cutoff 1649 2301 395 225 936 182 1291 1248 1111 79 553 195 48 323 919 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000319420   ⟹   ENSP00000313079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1326,044,597 - 26,052,016 (-)Ensembl
RefSeq Acc Id: NM_001007538   ⟹   NP_001007539
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381326,044,597 - 26,052,016 (-)NCBI
GRCh371326,618,735 - 26,625,198 (-)RGD
Build 361325,516,735 - 25,523,198 (-)NCBI Archive
Celera137,686,949 - 7,693,412 (-)RGD
HuRef137,436,767 - 7,443,244 (-)RGD
CHM1_11326,586,869 - 26,593,340 (-)NCBI
T2T-CHM13v2.01325,258,479 - 25,265,905 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001007539 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI32899 (Get FASTA)   NCBI Sequence Viewer  
  AAI37093 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89135 (Get FASTA)   NCBI Sequence Viewer  
  EAX08378 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000313079
  ENSP00000313079.3
GenBank Protein Q6UWI4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001007539   ⟸   NM_001007538
- Peptide Label: precursor
- UniProtKB: B9EH70 (UniProtKB/Swiss-Prot),   Q5W0G8 (UniProtKB/Swiss-Prot),   Q6UWI4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000313079   ⟸   ENST00000319420

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6UWI4-F1-model_v2 AlphaFold Q6UWI4 1-295 view protein structure

Promoters
RGD ID:6791112
Promoter ID:HG_KWN:17346
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:NM_001007538
Position:
Human AssemblyChrPosition (strand)Source
Build 361325,523,266 - 25,524,132 (-)MPROMDB
RGD ID:7226065
Promoter ID:EPDNEW_H18778
Type:initiation region
Name:SHISA2_2
Description:shisa family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18779  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381326,050,931 - 26,050,991EPDNEW
RGD ID:7226067
Promoter ID:EPDNEW_H18779
Type:initiation region
Name:SHISA2_1
Description:shisa family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18778  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381326,052,016 - 26,052,076EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20366 AgrOrtholog
COSMIC SHISA2 COSMIC
Ensembl Genes ENSG00000180730 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000319420 ENTREZGENE
  ENST00000319420.4 UniProtKB/Swiss-Prot
GTEx ENSG00000180730 GTEx
HGNC ID HGNC:20366 ENTREZGENE
Human Proteome Map SHISA2 Human Proteome Map
InterPro Shisa UniProtKB/Swiss-Prot
KEGG Report hsa:387914 UniProtKB/Swiss-Prot
NCBI Gene 387914 ENTREZGENE
OMIM 617324 OMIM
PANTHER PROTEIN SHISA-2 HOMOLOG UniProtKB/Swiss-Prot
  PTHR31395 UniProtKB/Swiss-Prot
Pfam Shisa UniProtKB/Swiss-Prot
PharmGKB PA162403292 PharmGKB
UniProt B9EH70 ENTREZGENE
  Q5W0G8 ENTREZGENE
  Q6UWI4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B9EH70 UniProtKB/Swiss-Prot
  Q5W0G8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-06 SHISA2  shisa family member 2    shisa homolog 2 (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED