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Aliases for TM9SF3 Gene

Aliases for TM9SF3 Gene

  • Transmembrane 9 Superfamily Member 3 2 3 5
  • EP70-P-Iso 3 4
  • SMBP 3 4
  • Dinucleotide Oxidase Disulfide Thiol Exchanger 3 Superfamily Member 3 3
  • Endomembrane Protein Emp70 Precursor Isolog 3
  • SM-11044 Binding Protein 3
  • SM-11044-Binding Protein 4

External Ids for TM9SF3 Gene

Previous GeneCards Identifiers for TM9SF3 Gene

  • GC10M098267
  • GC10M091907

Summaries for TM9SF3 Gene

GeneCards Summary for TM9SF3 Gene

TM9SF3 (Transmembrane 9 Superfamily Member 3) is a Protein Coding gene. An important paralog of this gene is TM9SF4.

Additional gene information for TM9SF3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM9SF3 Gene

Genomics for TM9SF3 Gene

Regulatory Elements for TM9SF3 Gene

Enhancers for TM9SF3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H097421 1.2 ENCODE dbSUPER 23.1 -835.9 -835907 2 ZNF493 ZFP64 BATF ZNF138 ZNF366 ZNF354C FOS ETV6 ZNF202 ZNF654 MMS19 EXOSC1 LCOR R3HCC1L NPM1P26 TM9SF3 RPL13AP5 MARVELD1 LOXL4 ZDHHC16
GH10H097037 1.2 Ensembl ENCODE 23.1 -450.3 -450349 1 HDGF ARID4B SIN3A ZNF2 GLIS2 ZNF143 DEK REST MIER2 KAT8 TM9SF3 EXOSC1 ZNF518A MARVELD1 RPL13AP5 CCNJ GC10M097006 PIR52854
GH10H097331 1.4 ENCODE dbSUPER 19.3 -746.2 -746198 4 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 EXOSC1 NPM1P26 R3HCC1L RPL13AP5 ENSG00000230928 LOXL4 LCOR TM9SF3 SLIT1 MARVELD1
GH10H096670 2 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -86.7 -86696 8 HDGF PKNOX1 FOXA2 MLX ARID4B YY1 TCF12 ZNF207 RUNX3 MCM3 PIK3AP1 NPM1P26 TCTN3 TM9SF3 RPL13AP5 CCNJ EXOSC1 LCOR GC10M096631
GH10H096579 1.5 Ensembl ENCODE dbSUPER 12.2 +6.5 6456 2 FEZF1 GLI4 ZNF2 ZNF121 ZNF416 KLF7 ZNF548 ATF7 ZNF202 SP3 ZNF518A TCTN3 MMS19 CCNJ LCOR EXOSC1 NPM1P26 TM9SF3 MIR607 ALDH18A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TM9SF3 on UCSC Golden Path with GeneCards custom track

Promoters for TM9SF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032060 1052 2801 PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 ETS1 GLIS2 ELK1

Genomic Location for TM9SF3 Gene

Chromosome:
10
Start:
96,518,109 bp from pter
End:
96,587,452 bp from pter
Size:
69,344 bases
Orientation:
Minus strand

Genomic View for TM9SF3 Gene

Genes around TM9SF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM9SF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM9SF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM9SF3 Gene

Proteins for TM9SF3 Gene

  • Protein details for TM9SF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD45-TM9S3_HUMAN
    Recommended name:
    Transmembrane 9 superfamily member 3
    Protein Accession:
    Q9HD45
    Secondary Accessions:
    • Q5TB57
    • Q6UWE7
    • Q9NWL8
    • Q9P0G9
    • Q9UHW8

    Protein attributes for TM9SF3 Gene

    Size:
    589 amino acids
    Molecular mass:
    67888 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF67014.1; Type=Frameshift; Positions=184, 198, 370, 446; Evidence={ECO:0000305}; Sequence=AAQ89178.1; Type=Frameshift; Positions=70; Evidence={ECO:0000305}; Sequence=BAA91362.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TM9SF3 Gene

Post-translational modifications for TM9SF3 Gene

  • Ubiquitination at posLast=5959 and posLast=210210
  • Glycosylation at Asn174 and posLast=419419
  • Modification sites at PhosphoSitePlus

Other Protein References for TM9SF3 Gene

No data available for DME Specific Peptides for TM9SF3 Gene

Domains & Families for TM9SF3 Gene

Gene Families for TM9SF3 Gene

Protein Domains for TM9SF3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9HD45

UniProtKB/Swiss-Prot:

TM9S3_HUMAN :
  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
Family:
  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
genes like me logo Genes that share domains with TM9SF3: view

Function for TM9SF3 Gene

Phenotypes From GWAS Catalog for TM9SF3 Gene

Phenotypes for TM9SF3 Gene

genes like me logo Genes that share phenotypes with TM9SF3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TM9SF3

CRISPR Products

miRNA for TM9SF3 Gene

miRTarBase miRNAs that target TM9SF3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TM9SF3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM9SF3 Gene

Localization for TM9SF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM9SF3 Gene

Membrane; Multi-pass 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 TM9SF3 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TM9SF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IBA,IEA --
genes like me logo Genes that share ontologies with TM9SF3: view

Pathways & Interactions for TM9SF3 Gene

SuperPathways for TM9SF3 Gene

No Data Available

Interacting Proteins for TM9SF3 Gene

Gene Ontology (GO) - Biological Process for TM9SF3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TM9SF3 Gene

Drugs & Compounds for TM9SF3 Gene

No Compound Related Data Available

Transcripts for TM9SF3 Gene

Unigene Clusters for TM9SF3 Gene

Transmembrane 9 superfamily member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TM9SF3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TM9SF3 Gene

No ASD Table

Relevant External Links for TM9SF3 Gene

GeneLoc Exon Structure for
TM9SF3
ECgene alternative splicing isoforms for
TM9SF3

Expression for TM9SF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TM9SF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TM9SF3 Gene

This gene is overexpressed in Nasal epithelium (41.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TM9SF3 Gene



Protein tissue co-expression partners for TM9SF3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TM9SF3 Gene:

TM9SF3

SOURCE GeneReport for Unigene cluster for TM9SF3 Gene:

Hs.500674

Evidence on tissue expression from TISSUES for TM9SF3 Gene

  • Liver(4.5)
  • Adrenal gland(4.3)
  • Muscle(4.3)
  • Nervous system(4.2)
  • Intestine(3.5)
  • Lung(3)
  • Kidney(2.5)
  • Stomach(2.1)
  • Blood(2)
  • Eye(2)
genes like me logo Genes that share expression patterns with TM9SF3: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TM9SF3 Gene

Orthologs for TM9SF3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TM9SF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TM9SF3 33 34
  • 99.82 (n)
cow
(Bos Taurus)
Mammalia TM9SF3 33 34
  • 95.91 (n)
dog
(Canis familiaris)
Mammalia TM9SF3 33 34
  • 95.8 (n)
oppossum
(Monodelphis domestica)
Mammalia TM9SF3 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM9SF3 34
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm9sf3 33
  • 92.67 (n)
mouse
(Mus musculus)
Mammalia Tm9sf3 33 16 34
  • 92.22 (n)
chicken
(Gallus gallus)
Aves TM9SF3 33 34
  • 86.43 (n)
lizard
(Anolis carolinensis)
Reptilia TM9SF3 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm9sf3 33
  • 83.45 (n)
Str.6006 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12856 33
zebrafish
(Danio rerio)
Actinopterygii tm9sf3 33 34
  • 80.4 (n)
Dr.26978 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004882 33
  • 67.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10590 33 34
  • 65.84 (n)
worm
(Caenorhabditis elegans)
Secernentea Y41D4A.4 33 34
  • 63.59 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 34
  • 25 (a)
ManyToMany
TMN2 34
  • 24 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TMN1 33
  • 60.57 (n)
soybean
(Glycine max)
eudicotyledons Gma.5446 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3627 33
rice
(Oryza sativa)
Liliopsida Os12g0175700 33
  • 60.18 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4691 33
corn
(Zea mays)
Liliopsida Zm.4030 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9350 34
  • 76 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4192 33
Species where no ortholog for TM9SF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TM9SF3 Gene

ENSEMBL:
Gene Tree for TM9SF3 (if available)
TreeFam:
Gene Tree for TM9SF3 (if available)

Paralogs for TM9SF3 Gene

Paralogs for TM9SF3 Gene

(4) SIMAP similar genes for TM9SF3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TM9SF3: view

Variants for TM9SF3 Gene

Sequence variations from dbSNP and Humsavar for TM9SF3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000087737 -- 96,571,422(+) AGGAA(C/T)AGCAG intron-variant
rs1000111854 -- 96,564,803(+) ATTGG(A/C)ATTAA intron-variant
rs1000167062 -- 96,577,335(+) TACAG(A/G)GGACA intron-variant
rs1000196670 -- 96,577,694(+) AGACA(C/T)TAATT intron-variant
rs1000213294 -- 96,587,622(+) CTTCC(C/T)AGTCA nc-transcript-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TM9SF3 Gene

Variant ID Type Subtype PubMed ID
esv1534879 CNV insertion 17803354
esv3337079 CNV insertion 20981092
esv3577627 CNV gain 25503493
esv3579086 CNV loss 25503493
nsv1110852 OTHER inversion 24896259
nsv481191 CNV novel sequence insertion 20440878
nsv509363 CNV insertion 20534489
nsv825530 CNV loss 20364138
nsv948151 CNV duplication 23825009

Variation tolerance for TM9SF3 Gene

Residual Variation Intolerance Score: 15.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TM9SF3 Gene

Human Gene Mutation Database (HGMD)
TM9SF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM9SF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM9SF3 Gene

Disorders for TM9SF3 Gene

Relevant External Links for TM9SF3

Genetic Association Database (GAD)
TM9SF3
Human Genome Epidemiology (HuGE) Navigator
TM9SF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TM9SF3

No disorders were found for TM9SF3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM9SF3 Gene

Publications for TM9SF3 Gene

  1. The iodocyanopindolol and SM-11044 binding protein belongs to the TM9SF multispanning membrane protein superfamily. (PMID: 11595169) Sugasawa T … Nahmias C (Gene 2001) 2 3 22 60
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for TM9SF3 Gene

Sources for TM9SF3 Gene

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