SHISA8 (shisa family member 8) - Rat Genome Database

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Gene: SHISA8 (shisa family member 8) Homo sapiens
Analyze
Symbol: SHISA8
Name: shisa family member 8
RGD ID: 1345156
HGNC Page HGNC
Description: Predicted to be involved in regulation of AMPA receptor activity and regulation of short-term neuronal synaptic plasticity. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; postsynaptic density; and postsynaptic membrane; INTERACTS WITH (-)-demecolcine; methyl methanesulfonate; triclosan.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C22orf17; CTA-250D10.17; Orf26; putative protein shisa-8; shisa homolog 8; shisa homolog 8 (Xenopus laevis); transmembrane protein 46-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,909,543 - 41,915,074 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,906,049 - 41,915,093 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,305,547 - 42,311,078 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,635,715 - 40,640,617 (-)NCBINCBI36hg18NCBI36
Celera2226,112,003 - 26,116,905 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,271,257 - 25,276,248 (-)NCBIHuRef
CHM1_12242,265,766 - 42,270,869 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:21873635   PMID:25056061   PMID:32877691   PMID:32918875  


Genomics

Comparative Map Data
SHISA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,909,543 - 41,915,074 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,906,049 - 41,915,093 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,305,547 - 42,311,078 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,635,715 - 40,640,617 (-)NCBINCBI36hg18NCBI36
Celera2226,112,003 - 26,116,905 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,271,257 - 25,276,248 (-)NCBIHuRef
CHM1_12242,265,766 - 42,270,869 (-)NCBICHM1_1
Shisa8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,090,369 - 82,097,049 (-)NCBIGRCm39mm39
GRCm39 Ensembl1582,090,369 - 82,097,016 (-)Ensembl
GRCm381582,206,173 - 82,212,848 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,206,168 - 82,212,815 (-)EnsemblGRCm38mm10GRCm38
MGSCv371582,037,382 - 82,052,260 (-)NCBIGRCm37mm9NCBIm37
MGSCv361582,034,207 - 82,049,085 (-)NCBImm8
Celera1584,330,672 - 84,336,537 (-)NCBICelera
Cytogenetic Map15E1NCBI
Shisa8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,722,408 - 113,727,858 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,722,408 - 113,727,858 (-)Ensembl
Rnor_6.07123,440,163 - 123,445,613 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,440,163 - 123,445,613 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,423,854 - 123,429,304 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,581,770 - 120,595,508 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7110,037,571 - 110,043,021 (-)NCBICelera
Cytogenetic Map7q34NCBI
Shisa8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541327,328,632 - 27,330,304 (-)NCBIChiLan1.0ChiLan1.0
SHISA8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,887,263 - 40,889,441 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02222,802,111 - 22,807,652 (-)NCBIMhudiblu_PPA_v0panPan3
SHISA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,444,051 - 23,448,692 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,376,889 - 23,382,774 (+)NCBI
ROS_Cfam_1.01024,187,797 - 24,193,682 (+)NCBI
UMICH_Zoey_3.11023,904,791 - 23,910,675 (+)NCBI
UNSW_CanFamBas_1.01024,226,041 - 24,232,175 (+)NCBI
UU_Cfam_GSD_1.01024,400,174 - 24,406,059 (+)NCBI
Shisa8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,098,337 - 7,103,351 (+)NCBI
SpeTri2.0NW_004936492108,751 - 113,765 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHISA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,711,535 - 6,716,364 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,711,089 - 6,716,644 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SHISA8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,441,962 - 24,447,204 (-)NCBI
Vero_WHO_p1.0NW_023666045100,964,732 - 100,970,285 (+)NCBI
Shisa8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,808,295 - 6,813,039 (+)NCBI

Position Markers
IB284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,307,762 - 42,308,055UniSTSGRCh37
Build 362240,637,708 - 40,638,001RGDNCBI36
Celera2226,113,996 - 26,114,289RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,273,461 - 25,273,754UniSTS
GeneMap99-GB4 RH Map22136.66UniSTS
Whitehead-RH Map22157.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:495
Count of miRNA genes:403
Interacting mature miRNAs:457
Transcripts:ENST00000457093
Prediction methods:Microtar, 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.


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 17 1 203 201 5 499 2 3 23
Low 230 816 385 157 932 21 1125 286 2000 75 454 217 136 30 591
Below cutoff 1423 1570 621 225 649 202 2399 1318 1129 156 722 935 28 746 1681 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000457093   ⟹   ENSP00000389964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,911,293 - 41,914,566 (-)Ensembl
RefSeq Acc Id: ENST00000621082   ⟹   ENSP00000481203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,909,543 - 41,915,074 (-)Ensembl
RefSeq Acc Id: NM_001207020   ⟹   NP_001193949
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,909,543 - 41,915,074 (-)NCBI
GRCh372242,305,558 - 42,310,671 (-)ENTREZGENE
HuRef2225,271,257 - 25,276,248 (-)ENTREZGENE
CHM1_12242,265,766 - 42,270,869 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353438   ⟹   NP_001340367
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,909,543 - 41,915,074 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353439   ⟹   NP_001340368
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,909,543 - 41,915,074 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724256   ⟹   XP_006724319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,906,049 - 41,914,750 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958691
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,906,049 - 41,915,093 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001193949 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340367 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340368 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724319 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein B8ZZ34 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001193949   ⟸   NM_001207020
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A087WXQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724319   ⟸   XM_006724256
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001340368   ⟸   NM_001353439
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: NP_001340367   ⟸   NM_001353438
- Peptide Label: isoform 1 precursor
- Sequence:
RefSeq Acc Id: ENSP00000481203   ⟸   ENST00000621082
RefSeq Acc Id: ENSP00000389964   ⟸   ENST00000457093

Promoters
RGD ID:6799789
Promoter ID:HG_KWN:43029
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000322048
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,640,901 - 40,641,401 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3 copy number gain See cases [RCV000142720] Chr22:41764466..41998153 [GRCh38]
Chr22:42160470..42394157 [GRCh37]
Chr22:40490416..40724103 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3 copy number gain not provided [RCV001258784] Chr22:42158393..42409550 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18351 AgrOrtholog
COSMIC SHISA8 COSMIC
Ensembl Genes ENSG00000234965 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000389964 UniProtKB/TrEMBL
  ENSP00000481203 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000457093 UniProtKB/TrEMBL
  ENST00000621082 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000234965 GTEx
HGNC ID HGNC:18351 ENTREZGENE
Human Proteome Map SHISA8 Human Proteome Map
InterPro Shisa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:440829 UniProtKB/Swiss-Prot
NCBI Gene 440829 ENTREZGENE
OMIM 617329 OMIM
PANTHER PTHR31774 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Shisa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165378367 PharmGKB
UniProt A0A087WXQ4 ENTREZGENE
  A0A2Q2RX16_HUMAN UniProtKB/TrEMBL
  B8ZZ34 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A087WXQ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-06 SHISA8  shisa family member 8    shisa homolog 8 (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED
2011-07-27 SHISA8  shisa homolog 8 (Xenopus laevis)  C22orf17  chromosome 22 open reading frame 17  Symbol and/or name change 5135510 APPROVED