Aliases for TMEM9 Gene

Aliases for TMEM9 Gene

  • Transmembrane Protein 9 2 3 4 5
  • TMEM9A 2 3 4
  • Proton-Transporting V-Type ATPase Complex Assembly Regulator TMEM9 3 4
  • V-ATPase Assembly Regulator TMEM9 3 4
  • Dermal Papilla-Derived Protein 4 3 4
  • Protein TMEM9 4
  • DERM4 3
  • TMEM9 5
  • DERP4 4

External Ids for TMEM9 Gene

Previous GeneCards Identifiers for TMEM9 Gene

  • GC00U991238
  • GC01M196562
  • GC01M197570
  • GC01M198392
  • GC01M197835
  • GC01M199370
  • GC01M201103
  • GC01M172270

Summaries for TMEM9 Gene

GeneCards Summary for TMEM9 Gene

TMEM9 (Transmembrane Protein 9) is a Protein Coding gene. Diseases associated with TMEM9 include Snail Allergy. An important paralog of this gene is TMEM9B.

UniProtKB/Swiss-Prot Summary for TMEM9 Gene

  • Transmembrane protein that binds to and facilitates the assembly of lysosomal proton-transporting V-type ATPase (v-ATPase), resulting in enhanced lysosomal acidification and trafficking (PubMed:30374053). By bringing the v-ATPase accessory protein ATP6AP2 and the v-ATPase subunit ATP6V0D1 together, allows v-ATPase complex formation and activation (PubMed:30374053). TMEM9-controlled vesicular acidification induces hyperactivation of Wnt/beta-catenin signaling, involved in development, tissue homeostasis and tissue regeneration, through lysosomal degradation of adenomatous polyposis coli/APC (PubMed:30374053, PubMed:32380568). In the liver, involved in hepatic regeneration (PubMed:32380568).

Gene Wiki entry for TMEM9 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM9 Gene

Genomics for TMEM9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM9 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
GH01J201153 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 307.4 +17.3 17292 1.9 TBP SP1 CEBPA IKZF1 MBD2 ZNF217 ZBTB7B ZEB1 CEBPB ARNT TMEM9 DDX59 RNPEP ELF3-AS1 IGFN1 ASCL5 CACNA1S IPO9-AS1 ENSG00000229821 HSALNG0009622
GH01J201169 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 255.7 +0.3 280 4 TBP ZBTB10 MXD4 FEZF1 CEBPA ZNF217 FOXA1 MNT DEK SMAD5 TMEM9 HSALNG0009622 ENSG00000229821 IGFN1 IPO9-AS1 IPO9 ASCL5 lnc-ASCL5-1
GH01J201173 Enhancer 0.5 ENCODE 250.7 -1.9 -1863 0.2 CEBPA CEBPB RARA OSR2 CREB1 HSALNG0009622 TMEM9 lnc-TMEM9-3 IGFN1
GH01J201265 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 15.3 -96.3 -96302 5.7 ARID3A DEK CEBPB MAX MAFF EP300 RAD21 SMC3 STAT3 TBP TMEM9 ENSG00000229821 LAD1 IGFN1 PKP1 ASCL5 RNPEP INAVA HSALNG0009630 HSALNG0009631
GH01J201126 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 9.9 +44.0 43971 2.2 FOXA1 IKZF1 ZNF217 CTCF ZIC2 ZNF623 FOXA2 SAP130 RXRA RARA ASCL5 HSALNG0009621 lnc-ASCL5-1 TMEM9 HSALNG0009622
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM9

Top Transcription factor binding sites by QIAGEN in the TMEM9 gene promoter:
  • AML1a
  • FAC1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • FOXO4
  • Lmo2
  • Spz1
  • Tal-1

Genomic Locations for TMEM9 Gene

Latest Assembly
chr1:201,134,772-201,171,625
(GRCh38/hg38)
Size:
36,854 bases
Orientation:
Minus strand

Previous Assembly
chr1:201,103,900-201,140,686
(GRCh37/hg19 by Entrez Gene)
Size:
36,787 bases
Orientation:
Minus strand

chr1:201,103,900-201,140,702
(GRCh37/hg19 by Ensembl)
Size:
36,803 bases
Orientation:
Minus strand

Genomic View for TMEM9 Gene

Genes around TMEM9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM9 Gene

Proteins for TMEM9 Gene

  • Protein details for TMEM9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0T7-TMEM9_HUMAN
    Recommended name:
    Proton-transporting V-type ATPase complex assembly regulator TMEM9
    Protein Accession:
    Q9P0T7
    Secondary Accessions:
    • B1ALM6
    • Q96NQ9
    • Q9BQF5

    Protein attributes for TMEM9 Gene

    Size:
    183 amino acids
    Molecular mass:
    20574 Da
    Quaternary structure:
    • Interacts with the v-ATPase accessory protein ATP6AP2 and with the v-ATPase complex subunit ATP6V0D1; these interactions lead to the assembly of the v-ATPase complex.

neXtProt entry for TMEM9 Gene

Post-translational modifications for TMEM9 Gene

  • N-glycosylated.
  • Glycosylation at Asn21, Asn38, and Asn47
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TMEM9_HUMAN (1857)

No data available for DME Specific Peptides for TMEM9 Gene

Domains & Families for TMEM9 Gene

Gene Families for TMEM9 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM9 Gene

InterPro:
Blocks:
  • TMEM9
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM9 Gene

GenScript: Design optimal peptide antigens:
  • TMEM9 protein (Q6FIF9_HUMAN)
  • TMEM9 protein (Q6IAJ3_HUMAN)
  • Dermal papilla-derived protein 4 (TMEM9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P0T7

UniProtKB/Swiss-Prot:

TMEM9_HUMAN :
  • The transmembrane domain (TMD) is essential for the interaction with ATP6AP2.
  • Belongs to the TMEM9 family.
Domain:
  • The transmembrane domain (TMD) is essential for the interaction with ATP6AP2.
Family:
  • Belongs to the TMEM9 family.
genes like me logo Genes that share domains with TMEM9: view

Function for TMEM9 Gene

Molecular function for TMEM9 Gene

UniProtKB/Swiss-Prot Function:
Transmembrane protein that binds to and facilitates the assembly of lysosomal proton-transporting V-type ATPase (v-ATPase), resulting in enhanced lysosomal acidification and trafficking (PubMed:30374053). By bringing the v-ATPase accessory protein ATP6AP2 and the v-ATPase subunit ATP6V0D1 together, allows v-ATPase complex formation and activation (PubMed:30374053). TMEM9-controlled vesicular acidification induces hyperactivation of Wnt/beta-catenin signaling, involved in development, tissue homeostasis and tissue regeneration, through lysosomal degradation of adenomatous polyposis coli/APC (PubMed:30374053, PubMed:32380568). In the liver, involved in hepatic regeneration (PubMed:32380568).

Phenotypes From GWAS Catalog for TMEM9 Gene

Gene Ontology (GO) - Molecular Function for TMEM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 30374053
genes like me logo Genes that share ontologies with TMEM9: view
genes like me logo Genes that share phenotypes with TMEM9: view

Animal Models for TMEM9 Gene

MGI Knock Outs for TMEM9:
  • Tmem9 Tmem9<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM9

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM9 Gene

Localization for TMEM9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM9 Gene

Lysosome membrane. Single-pass type I membrane protein. Late endosome membrane. Single-pass type I membrane protein. Endosome, multivesicular body 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 TMEM9 gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 2
extracellular 2
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
  • Cytokinetic bridge (1)
  • Microtubules (1)
  • Mitotic spindle (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 12359240
GO:0005765 lysosomal membrane IEA,IDA 30374053
GO:0005768 endosome IEA --
GO:0005770 late endosome IDA 12359240
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with TMEM9: view

Pathways & Interactions for TMEM9 Gene

PathCards logo

SuperPathways for TMEM9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007042 lysosomal lumen acidification IDA 30374053
GO:0015031 protein transport IEA --
GO:0042176 regulation of protein catabolic process ISS --
GO:0048388 endosomal lumen acidification IDA 30374053
GO:0070070 proton-transporting V-type ATPase complex assembly IDA 30374053
genes like me logo Genes that share ontologies with TMEM9: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM9 Gene

Drugs & Compounds for TMEM9 Gene

No Compound Related Data Available

Transcripts for TMEM9 Gene

mRNA/cDNA for TMEM9 Gene

9 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
11 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 TMEM9

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM9 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - -
SP9: - - -
SP10:

Relevant External Links for TMEM9 Gene

GeneLoc Exon Structure for
TMEM9

Expression for TMEM9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM9 Gene

This gene is overexpressed in Testis (13.0), Frontal cortex (10.5), and Fetal Liver (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM9 Gene



Protein tissue co-expression partners for TMEM9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM9

SOURCE GeneReport for Unigene cluster for TMEM9 Gene:

Hs.181444

mRNA Expression by UniProt/SwissProt for TMEM9 Gene:

Q9P0T7-TMEM9_HUMAN
Tissue specificity: Highly expressed in adrenal gland, thyroid gland, testis, ovary and prostate (PubMed:12359240). Moderate expression in trachea, spinal cord, stomach, colon, small intestine and spleen (PubMed:12359240, PubMed:30374053). Low expression in bone marrow, lymph node, thymus and peripheral blood lymphocytes (PubMed:12359240). Expression is detected in hematopoietic cell lines including those of myeloid, erythroid, B- and T-cell origin (PubMed:12359240).

Evidence on tissue expression from TISSUES for TMEM9 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Skin(4.3)
  • Blood(4.3)
  • Lung(3.2)
  • Eye(2.9)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with TMEM9: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM9 Gene

Orthologs for TMEM9 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM9 Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM9 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 96 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
TMEM9 30
  • 91.76 (n)
Chimpanzee
(Pan troglodytes)
Mammalia TMEM9 30 31
  • 95.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem9 30 17 31
  • 90.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem9 30
  • 90.16 (n)
Cow
(Bos Taurus)
Mammalia TMEM9 30 31
  • 87.48 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM9 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM9 30 31
  • 80.6 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM9 31
  • 67 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii tmem9 30 31
  • 75.58 (n)
OneToOne
wufi33g11 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9265 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007259 30
  • 52.81 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1161 30
  • 47.07 (n)
Worm
(Caenorhabditis elegans)
Secernentea R12C12.6 30 31
  • 46.63 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
Species where no ortholog for TMEM9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for TMEM9 Gene

ENSEMBL:
Gene Tree for TMEM9 (if available)
TreeFam:
Gene Tree for TMEM9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM9: view image

Paralogs for TMEM9 Gene

Paralogs for TMEM9 Gene

(1) SIMAP similar genes for TMEM9 Gene using alignment to 8 proteins:

  • TMEM9_HUMAN
  • B1ALM4_HUMAN
  • B1ALM5_HUMAN
  • B1ALM7_HUMAN
  • B1ALM8_HUMAN
  • F2Z389_HUMAN
  • Q6FIF9_HUMAN
  • Q6IAJ3_HUMAN
genes like me logo Genes that share paralogs with TMEM9: view

Variants for TMEM9 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM9 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 TMEM9 Gene

Variant ID Type Subtype PubMed ID
nsv428301 CNV gain 18775914

Variation tolerance for TMEM9 Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM9 Gene

Human Gene Mutation Database (HGMD)
TMEM9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM9

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 TMEM9 Gene

Disorders for TMEM9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM9 Gene - From: COP

Disorder Aliases PubMed IDs
snail allergy
- elite association - COSMIC cancer census association via MalaCards
Search TMEM9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMEM9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TMEM9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM9 Gene

Publications for TMEM9 Gene

  1. TMEM9 promotes intestinal tumorigenesis through vacuolar-ATPase-activated Wnt/β-catenin signalling. (PMID: 30374053) Jung YS … Park JI (Nature cell biology 2018) 2 3 4
  2. TMEM9 mediates IL-6 and IL-1β secretion and is modulated by the Wnt pathway. (PMID: 30119033) Wei W … Su Q (International immunopharmacology 2018) 2 3
  3. 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 41
  4. The lysosomal transmembrane protein 9B regulates the activity of inflammatory signaling pathways. (PMID: 18541524) Dodeller F … Cenni B (The Journal of biological chemistry 2008) 2 3
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4

Products for TMEM9 Gene

Sources for TMEM9 Gene