THSD8 (thrombospondin type 1 domain containing 8) - Rat Genome Database

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Gene: THSD8 (thrombospondin type 1 domain containing 8) Homo sapiens
Analyze
Symbol: THSD8
Name: thrombospondin type 1 domain containing 8
RGD ID: 13464311
HGNC Page HGNC:53785
Description: Predicted to be located in external side of plasma membrane and sperm head plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: thrombospondin type-1 domain-containing protein 8
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Green Monkey
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
GRCh381912,802,069 - 12,804,389 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,802,031 - 12,813,581 (+)EnsemblGRCh38hg38GRCh38
GRCh371912,912,883 - 12,915,203 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19p13.13NCBI
T2T-CHM13v2.01912,926,574 - 12,928,889 (+)NCBIT2T-CHM13v2.0
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
References

Genomics

Comparative Map Data
THSD8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,802,069 - 12,804,389 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,802,031 - 12,813,581 (+)EnsemblGRCh38hg38GRCh38
GRCh371912,912,883 - 12,915,203 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19p13.13NCBI
T2T-CHM13v2.01912,926,574 - 12,928,889 (+)NCBIT2T-CHM13v2.0
Thsd8
(Mus musculus - house mouse)		 No map positions available.
Thsd8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21923,186,394 - 23,188,323 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1923,186,364 - 23,196,042 (+)EnsemblmRatBN7.2 Ensembl
Cytogenetic Map19q11NCBI
THSD8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22017,730,785 - 17,735,994 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11916,731,366 - 16,736,584 (+)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl1913,107,406 - 13,109,635 (+)Ensemblpanpan1.1panPan2
THSD8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha2049,224,524 - 49,227,082 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02049,869,308 - 49,871,867 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12049,080,437 - 49,082,993 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02049,506,730 - 49,509,290 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02049,749,381 - 49,751,939 (-)NCBIUU_Cfam_GSD_1.0
Thsd8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,453,734 - 208,456,935 (-)NCBIHiC_Itri_2
THSD8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660748,302,316 - 8,306,383 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
1 4 15 6 6 6 51 6 65 55 15 3 15

Sequence


Ensembl Acc Id: ENST00000639767   ⟹   ENSP00000491410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,802,063 - 12,813,581 (+)Ensembl
Ensembl Acc Id: ENST00000639810   ⟹   ENSP00000491231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,802,069 - 12,804,389 (+)Ensembl
Ensembl Acc Id: ENST00000643364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,802,031 - 12,806,790 (+)Ensembl
RefSeq Acc Id: NM_001386800   ⟹   NP_001373729
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,802,069 - 12,804,389 (+)NCBI
T2T-CHM13v2.01912,926,574 - 12,928,889 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001373729 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A1W2PP97 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000491231
  ENSP00000491231.1
  ENSP00000491410.2
Ensembl Acc Id: ENSP00000491231   ⟸   ENST00000639810
Ensembl Acc Id: ENSP00000491410   ⟸   ENST00000639767
RefSeq Acc Id: NP_001373729   ⟸   NM_001386800
- Peptide Label: precursor
- UniProtKB: A0A1W2PP97 (UniProtKB/Swiss-Prot),   A0A1W2PP18 (UniProtKB/Swiss-Prot)
Protein Domains
TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1W2PP97-F1-model_v2 AlphaFold A0A1W2PP97 1-115 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC THSD8 COSMIC
Ensembl Genes ENSG00000284491 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000639767.2 UniProtKB/Swiss-Prot
  ENST00000639810 ENTREZGENE
  ENST00000639810.3 UniProtKB/Swiss-Prot
GTEx ENSG00000284491 GTEx
HGNC ID HGNC:53785 ENTREZGENE
Human Proteome Map THSD8 Human Proteome Map
InterPro TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
NCBI Gene THSD8 ENTREZGENE
PharmGKB PA166181671 PharmGKB
PROSITE TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF82895 UniProtKB/Swiss-Prot
UniProt A0A1W2PP18 ENTREZGENE
  A0A1W2PP97 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A1W2PP18 UniProtKB/Swiss-Prot