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Aliases for TM9SF3 Gene

Aliases for TM9SF3 Gene

  • Transmembrane 9 Superfamily Member 3 2 3 4 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. Diseases associated with TM9SF3 include Hypertension, Essential. 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

GeneHancer (GH) Regulatory Elements for TM9SF3 Gene

Promoters and enhancers for TM9SF3 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
GH10J096584 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.5 488 4.7 ZNF652 ZFX NKRF POLR2A MLLT1 ZNF121 ZNF687 ZSCAN21 JUND YY1 LOC105378443 TM9SF3 NPM1P26 MIR607 LCOR
GH10J097421 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 23 -838.2 -838231 7.4 SP1 ELF3 CTCF NKRF POLR2A MLLT1 ZNF384 ZNF687 AHR ZNF24 RRP12 PGAM1 GC10M097416 LOC644215 MMS19 EXOSC1 LCOR R3HCC1L TM9SF3 NPM1P26
GH10J097331 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 19.3 -746.2 -746189 4.9 HDGF SP1 ZNF652 ZFX ELF3 CTCF MNT SIX5 ZNF148 NKRF FRAT2 LOC105378448 ENSG00000225850 EXOSC1 NPM1P26 R3HCC1L RPL13AP5 ENSG00000230928 LOXL4 LCOR
GH10J096670 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -86.7 -86695 8.1 ZNF652 ELF3 NKRF RERE TFE3 SP1 HNF1A PPARG CREM PRDM1 PIK3AP1 NPM1P26 TCTN3 TM9SF3 RPL13AP5 CCNJ EXOSC1 LCOR GC10M096631
GH10J096128 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.2 +457.2 457151 4.2 ZNF652 SP1 ZFX ELF3 ZKSCAN8 MNT NKRF POLR2A MLLT1 ZNF121 ZNF518A GC10M096129 CCNJ NPM1P26 RPL13AP5 TCTN3 LCOR TM9SF3 PDLIM1 ENTPD1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TM9SF3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TM9SF3 gene promoter:
  • Bach2
  • Brachyury
  • Egr-4
  • FOXO4
  • GATA-1
  • HNF-1
  • HNF-1A
  • LUN-1
  • Max1
  • SRY

Genomic Locations for TM9SF3 Gene

Genomic Locations for TM9SF3 Gene
chr10:96,518,110-96,587,452
(GRCh38/hg38)
Size:
69,343 bases
Orientation:
Minus strand
chr10:98,277,866-98,347,209
(GRCh37/hg19)
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 isoforms=59 and posLast=210210
  • Glycosylation at isoforms=419 and isoforms=174
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TM9S3_HUMAN (1842)

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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TM9SF3 Gene

GenScript: Design optimal peptide antigens:
  • TM9SF3 protein (Q8WUB5_HUMAN)
  • cDNA FLJ14882 fis, clone PLACE1003537, weakly similar to ENDOSOMAL P24A PROTEIN (Q96JZ5_HUMAN)
  • SM-11044-binding protein (TM9S3_HUMAN)

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

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

Clone Products

  • Applied Biological Materials (abm): Clones for TM9SF3 - Now 50% OFF >
  • * TM9SF3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TM9SF3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM9SF3: view

Pathways & Interactions for TM9SF3 Gene

PathCards logo

SuperPathways for TM9SF3 Gene

No Data Available

Interacting Proteins for TM9SF3 Gene

Gene Ontology (GO) - Biological Process for TM9SF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072657 protein localization to membrane IBA 21873635
genes like me logo Genes that share ontologies with TM9SF3: view

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

mRNA/cDNA for TM9SF3 Gene

Unigene Clusters for TM9SF3 Gene

Transmembrane 9 superfamily member 3:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for TM9SF3 - Now 50% OFF >
  • * TM9SF3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TM9SF3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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, 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

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 35 34
  • 99.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TM9SF3 35 34
  • 95.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TM9SF3 35 34
  • 95.8 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TM9SF3 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM9SF3 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm9sf3 34
  • 92.67 (n)
mouse
(Mus musculus)
Mammalia Tm9sf3 17 35 34
  • 92.22 (n)
chicken
(Gallus gallus)
Aves TM9SF3 35 34
  • 86.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TM9SF3 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm9sf3 34
  • 83.45 (n)
Str.6006 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12856 34
zebrafish
(Danio rerio)
Actinopterygii tm9sf3 35 34
  • 80.4 (n)
OneToOne
Dr.26978 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004882 34
  • 67.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10590 35 34
  • 65.84 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y41D4A.4 35 34
  • 63.59 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 35
  • 25 (a)
ManyToMany
TMN2 35
  • 24 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TMN1 34
  • 60.57 (n)
soybean
(Glycine max)
eudicotyledons Gma.5446 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3627 34
rice
(Oryza sativa)
Liliopsida Os12g0175700 34
  • 60.18 (n)
corn
(Zea mays)
Liliopsida Zm.4030 34
barley
(Hordeum vulgare)
Liliopsida Hv.4691 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9350 35
  • 76 (a)
OneToOne
Cin.4192 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4192 34
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)
Aminode:
Evolutionary constrained regions (ECRs) for TM9SF3: view image

Paralogs for TM9SF3 Gene

Paralogs for TM9SF3 Gene

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

  • TM9S3_HUMAN
  • L8EB11_HUMAN
  • Q5TB53_HUMAN
  • Q8WUB5_HUMAN
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 Variation AA Info Type
rs1000087737 -- 96,571,422(-) T/C intron_variant
rs1000111854 -- 96,564,803(-) C/A intron_variant
rs1000167062 -- 96,577,335(-) A/G intron_variant
rs1000196670 -- 96,577,694(-) T/C intron_variant
rs1000213294 -- 96,587,622(-) C/T upstream_transcript_variant

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)

Additional Variant Information for TM9SF3 Gene

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

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

Disorders for TM9SF3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TM9SF3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TM9SF3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TM9SF3: view

No data available for 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 23 58
  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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. miR-1193 Suppresses the Proliferation and Invasion of Human T-Cell Leukemia Cells Through Directly Targeting the Transmembrane 9 Superfamily 3 (TM9SF3). (PMID: 28390114) Shen L … Mei S (Oncology research 2017) 3 58

Products for TM9SF3 Gene

Sources for TM9SF3 Gene

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