Aliases for THSD7B Gene

Aliases for THSD7B Gene

  • Thrombospondin Type 1 Domain Containing 7B 2 3 5
  • Thrombospondin Type-1 Domain-Containing Protein 7B 3 4
  • KIAA1679 2 4
  • Thrombospondin, Type I, Domain Containing 7B 3
  • THSD7B 5

External Ids for THSD7B Gene

Previous GeneCards Identifiers for THSD7B Gene

  • GC02P137465
  • GC02P137356
  • GC02P137239
  • GC02P129738

Summaries for THSD7B Gene

GeneCards Summary for THSD7B Gene

THSD7B (Thrombospondin Type 1 Domain Containing 7B) is a Protein Coding gene. Among its related pathways are O-glycosylation of TSR domain-containing proteins and Diseases of glycosylation. An important paralog of this gene is THSD7A.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THSD7B Gene

Genomics for THSD7B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THSD7B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J136764 Promoter 1 Ensembl CraniofacialAtlas 260.6 0.0 -44 1.8 SIN3A ZNF513 CTCF EGR2 EZH2 USF2 ZBTB20 ZNF335 THSD7B piR-33422-233 CXCR4
GH02J136765 Enhancer 0.3 Ensembl 257.6 +1.5 1546 0.6 EZH2 POLR2A THSD7B piR-55194-205
GH02J137168 Enhancer 0.7 Ensembl ENCODE 8 +403.1 403054 0.8 ZNF217 EP300 CTBP1 JUND SMARCE1 PKNOX1 FOXA1 DPF2 CREB1 FOS THSD7B HSALNG0019122 piR-47086-166 HNMT
GH02J137178 Enhancer 0.7 ENCODE 8.1 +413.9 413943 1.7 BCL11A CEBPB TRIM22 EP300 CTBP1 PRDM1 CUX1 TCF7L2 USF2 BHLHE40 THSD7B HSALNG0019122 piR-56580-023 HNMT
GH02J137207 Enhancer 0.7 Ensembl ENCODE 7.5 +441.7 441737 4.6 JUND ZNF592 FOSL2 PKNOX1 IKZF1 HLF NANOG FOS IKZF2 MTA2 piR-56580-023 THSD7B HSALNG0019122 HNMT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THSD7B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THSD7B

Top Transcription factor binding sites by QIAGEN in the THSD7B gene promoter:
  • AML1a
  • AREB6
  • Chx10
  • HNF-1
  • HNF-1A
  • Pax-2
  • Pax-2a
  • Pax-2b
  • S8
  • Sox9

Genomic Locations for THSD7B Gene

Latest Assembly
chr2:136,765,545-137,677,718
(GRCh38/hg38)
Size:
912,174 bases
Orientation:
Plus strand

Previous Assembly
chr2:137,523,115-138,435,288
(GRCh37/hg19 by Entrez Gene)
Size:
912,174 bases
Orientation:
Plus strand

chr2:137,523,115-138,435,287
(GRCh37/hg19 by Ensembl)
Size:
912,173 bases
Orientation:
Plus strand

Genomic View for THSD7B Gene

Genes around THSD7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THSD7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THSD7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THSD7B Gene

Proteins for THSD7B Gene

  • Protein details for THSD7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0I4-THS7B_HUMAN
    Recommended name:
    Thrombospondin type-1 domain-containing protein 7B
    Protein Accession:
    Q9C0I4
    Secondary Accessions:
    • E7EM75

    Protein attributes for THSD7B Gene

    Size:
    1606 amino acids
    Molecular mass:
    179199 Da
    Quaternary structure:
    No Data Available

neXtProt entry for THSD7B Gene

Post-translational modifications for THSD7B Gene

  • Glycosylation at Asn150, Asn190, Asn219, Asn683, Asn757, Asn842, Asn933, Asn1186, Asn1308, Asn1456, and Asn1524
  • Modification sites at PhosphoSitePlus

Other Protein References for THSD7B Gene

No data available for DME Specific Peptides for THSD7B Gene

Domains & Families for THSD7B Gene

Gene Families for THSD7B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for THSD7B Gene

Suggested Antigen Peptide Sequences for THSD7B Gene

GenScript: Design optimal peptide antigens:
  • THSD7B protein (Q8WUV0_HUMAN)
  • Thrombospondin type-1 domain-containing protein 7B (THS7B_HUMAN)
genes like me logo Genes that share domains with THSD7B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for THSD7B Gene

Function for THSD7B Gene

Phenotypes From GWAS Catalog for THSD7B Gene

Gene Ontology (GO) - Molecular Function for THSD7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with THSD7B: view
genes like me logo Genes that share phenotypes with THSD7B: view

Animal Models for research

  • Taconic Biosciences Mouse Models for THSD7B

miRNA for THSD7B Gene

miRTarBase miRNAs that target THSD7B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THSD7B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THSD7B Gene

Localization for THSD7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for THSD7B Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THSD7B gene
Compartment Confidence
plasma membrane 4
extracellular 3
nucleus 1
peroxisome 0
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THSD7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with THSD7B: view

Pathways & Interactions for THSD7B Gene

genes like me logo Genes that share pathways with THSD7B: view

Interacting Proteins for THSD7B Gene

Gene Ontology (GO) - Biological Process for THSD7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031532 actin cytoskeleton reorganization IBA 21873635
genes like me logo Genes that share ontologies with THSD7B: view

No data available for SIGNOR curated interactions for THSD7B Gene

Drugs & Compounds for THSD7B Gene

(1) Drugs for THSD7B Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma 3544
genes like me logo Genes that share compounds with THSD7B: view

Transcripts for THSD7B Gene

mRNA/cDNA for THSD7B Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THSD7B

Alternative Splicing Database (ASD) splice patterns (SP) for THSD7B Gene

No ASD Table

Relevant External Links for THSD7B Gene

GeneLoc Exon Structure for
THSD7B

Expression for THSD7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THSD7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for THSD7B Gene

This gene is overexpressed in Artery - Aorta (x6.3).

Protein differential expression in normal tissues from HIPED for THSD7B Gene

This gene is overexpressed in Retina (59.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for THSD7B Gene



Protein tissue co-expression partners for THSD7B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THSD7B

SOURCE GeneReport for Unigene cluster for THSD7B Gene:

Hs.68533

Evidence on tissue expression from TISSUES for THSD7B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with THSD7B: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THSD7B Gene

Orthologs for THSD7B Gene

This gene was present in the common ancestor of animals.

Orthologs for THSD7B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia THSD7B 29 30
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia THSD7B 29
  • 89 (n)
-- 30
  • 20 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia THSD7B 29 30
  • 88.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Thsd7b 29 16 30
  • 84.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Thsd7b 29
  • 84.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia THSD7B 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia THSD7B 30
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves THSD7B 29 30
  • 67.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia THSD7B 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia thsd7b 29
  • 64.54 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC566298 29
  • 60.04 (n)
thsd7ba 30
  • 56 (a)
OneToMany
THSD7B (1 of 2) 30
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG17739 30
  • 19 (a)
ManyToMany
fat-spondin 30
  • 17 (a)
ManyToMany
CG30046 30
  • 13 (a)
ManyToMany
CG30203 30
  • 12 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea spon-1 30
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
OneToMany
Species where no ortholog for THSD7B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for THSD7B Gene

ENSEMBL:
Gene Tree for THSD7B (if available)
TreeFam:
Gene Tree for THSD7B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THSD7B: view image
Alliance of Genome Resources:
Additional Orthologs for THSD7B

Paralogs for THSD7B Gene

Paralogs for THSD7B Gene

(2) SIMAP similar genes for THSD7B Gene using alignment to 6 proteins:

  • THS7B_HUMAN
  • C9JKN6_HUMAN
  • E7EM75_HUMAN
  • F5H5I9_HUMAN
  • Q8WUV0_HUMAN
  • R4GMU2_HUMAN
genes like me logo Genes that share paralogs with THSD7B: view

Variants for THSD7B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for THSD7B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for THSD7B Gene

Variant ID Type Subtype PubMed ID
dgv2047n106 CNV deletion 24896259
esv1006423 CNV deletion 20482838
esv1274201 CNV deletion 17803354
esv1683117 CNV deletion 17803354
esv1756709 CNV insertion 17803354
esv2421943 CNV deletion 20811451
esv2561082 CNV insertion 19546169
esv2657968 CNV deletion 23128226
esv2672484 CNV deletion 23128226
esv2674548 CNV deletion 23128226
esv2678344 CNV deletion 23128226
esv2720868 CNV deletion 23290073
esv2720869 CNV deletion 23290073
esv275211 CNV loss 21479260
esv2762283 CNV loss 21179565
esv32614 CNV loss 17666407
esv3307120 CNV mobile element insertion 20981092
esv3307200 CNV mobile element insertion 20981092
esv3307451 CNV mobile element insertion 20981092
esv3308084 CNV mobile element insertion 20981092
esv3308666 CNV mobile element insertion 20981092
esv3325809 CNV insertion 20981092
esv33322 CNV loss 17666407
esv3350591 CNV duplication 20981092
esv3366404 CNV insertion 20981092
esv3366591 CNV insertion 20981092
esv3396099 CNV insertion 20981092
esv3429981 CNV insertion 20981092
esv3446305 CNV insertion 20981092
esv3560203 CNV deletion 23714750
esv3560207 CNV deletion 23714750
esv3560208 CNV deletion 23714750
esv3575302 CNV gain 25503493
esv3575303 CNV gain 25503493
esv3584087 CNV loss 25503493
esv3584088 CNV loss 25503493
esv3592611 CNV loss 21293372
esv3592612 CNV loss 21293372
esv3592613 CNV loss 21293372
esv3592614 CNV loss 21293372
esv3592616 CNV loss 21293372
esv3592618 CNV loss 21293372
esv3592620 CNV loss 21293372
esv3592623 CNV loss 21293372
esv3592624 CNV loss 21293372
esv3592625 CNV gain 21293372
esv3592627 CNV loss 21293372
esv3592629 CNV loss 21293372
esv3592631 CNV loss 21293372
esv3893448 CNV loss 25118596
esv3893459 CNV loss 25118596
esv5744 CNV loss 19470904
nsv1003798 CNV gain 25217958
nsv1004647 CNV gain 25217958
nsv1012071 CNV loss 25217958
nsv1116798 CNV deletion 24896259
nsv1141957 OTHER inversion 24896259
nsv1151019 CNV deletion 26484159
nsv1160869 CNV duplication 26073780
nsv1160870 CNV duplication 26073780
nsv1160871 CNV deletion 26073780
nsv215433 CNV deletion 16902084
nsv2944 CNV deletion 18451855
nsv459474 CNV loss 19166990
nsv508169 CNV deletion 20534489
nsv508872 CNV insertion 20534489
nsv521939 CNV loss 19592680
nsv524693 CNV loss 19592680
nsv525899 CNV loss 19592680
nsv526606 CNV loss 19592680
nsv583175 CNV loss 21841781
nsv583176 CNV loss 21841781
nsv583177 CNV loss 21841781
nsv583178 CNV loss 21841781
nsv583179 CNV loss 21841781
nsv583180 CNV gain 21841781
nsv7329 OTHER inversion 18451855
nsv954186 CNV deletion 24416366
nsv998128 CNV loss 25217958
nsv998858 CNV loss 25217958

Variation tolerance for THSD7B Gene

Gene Damage Index Score: 14.00; 96.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THSD7B Gene

Human Gene Mutation Database (HGMD)
THSD7B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THSD7B
Leiden Open Variation Database (LOVD)
THSD7B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THSD7B Gene

Disorders for THSD7B Gene

Additional Disease Information for THSD7B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for THSD7B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for THSD7B Gene

Publications for THSD7B Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for THSD7B Gene

Sources for THSD7B Gene