Aliases for TMEM92 Gene

Aliases for TMEM92 Gene

  • Transmembrane Protein 92 2 3 4 5
  • FLJ33318 2
  • TMEM92 5

External Ids for TMEM92 Gene

Previous GeneCards Identifiers for TMEM92 Gene

  • GC17P045707
  • GC17P048352
  • GC17P043718

Summaries for TMEM92 Gene

GeneCards Summary for TMEM92 Gene

TMEM92 (Transmembrane Protein 92) is a Protein Coding gene. Diseases associated with TMEM92 include Hydrocephalus and Hydrocephalus, Congenital, 1.

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 TMEM92 Gene

Genomics for TMEM92 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM92 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM92 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM92

Top Transcription factor binding sites by QIAGEN in the TMEM92 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • E47
  • FOXO4
  • LyF-1
  • RFX1
  • Tal-1

Genomic Locations for TMEM92 Gene

Latest Assembly
chr17:50,271,406-50,281,485
(GRCh38/hg38)
Size:
10,080 bases
Orientation:
Plus strand

Previous Assembly
chr17:48,348,767-48,358,846
(GRCh37/hg19 by Entrez Gene)
Size:
10,080 bases
Orientation:
Plus strand

chr17:48,348,767-48,358,844
(GRCh37/hg19 by Ensembl)
Size:
10,078 bases
Orientation:
Plus strand

Genomic View for TMEM92 Gene

Genes around TMEM92 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM92 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM92 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM92 Gene

Proteins for TMEM92 Gene

  • Protein details for TMEM92 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXU6-TMM92_HUMAN
    Recommended name:
    Transmembrane protein 92
    Protein Accession:
    Q6UXU6
    Secondary Accessions:
    • Q8NBF0

    Protein attributes for TMEM92 Gene

    Size:
    159 amino acids
    Molecular mass:
    17229 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM92 Gene

Post-translational modifications for TMEM92 Gene

No Post-translational modifications

Other Protein References for TMEM92 Gene

No data available for DME Specific Peptides for TMEM92 Gene

Domains & Families for TMEM92 Gene

Gene Families for TMEM92 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM92 Gene

InterPro:

Suggested Antigen Peptide Sequences for TMEM92 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 92 (TMM92_HUMAN)
genes like me logo Genes that share domains with TMEM92: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM92 Gene

Function for TMEM92 Gene

Phenotypes From GWAS Catalog for TMEM92 Gene

Gene Ontology (GO) - Molecular Function for TMEM92 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with TMEM92: view
genes like me logo Genes that share phenotypes with TMEM92: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM92

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM92 Gene

Localization for TMEM92 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM92 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 TMEM92 gene
Compartment Confidence
nucleus 4
plasma membrane 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM92 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IBA,IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM92: view

Pathways & Interactions for TMEM92 Gene

PathCards logo

SuperPathways for TMEM92 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM92 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM92 Gene

Drugs & Compounds for TMEM92 Gene

No Compound Related Data Available

Transcripts for TMEM92 Gene

mRNA/cDNA for TMEM92 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 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 TMEM92

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM92 Gene

No ASD Table

Relevant External Links for TMEM92 Gene

GeneLoc Exon Structure for
TMEM92

Expression for TMEM92 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM92 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)
  • Stomach (Gastrointestinal Tract)

mRNA differential expression in normal tissues according to GTEx for TMEM92 Gene

This gene is overexpressed in Stomach (x13.6), Small Intestine - Terminal Ileum (x9.8), and Liver (x6.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM92

SOURCE GeneReport for Unigene cluster for TMEM92 Gene:

Hs.224630

Evidence on tissue expression from TISSUES for TMEM92 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with TMEM92: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM92 Gene

Orthologs for TMEM92 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TMEM92 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM92 30
  • 98 (a)
OneToOne
LOC747062 29
  • 96.99 (n)
Dog
(Canis familiaris)
Mammalia TMEM92 29 30
  • 76.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM92 30
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM92 30
  • 45 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem92 30
  • 41 (a)
OneToOne
Species where no ortholog for TMEM92 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TMEM92 Gene

ENSEMBL:
Gene Tree for TMEM92 (if available)
TreeFam:
Gene Tree for TMEM92 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM92: view image
Alliance of Genome Resources:
Additional Orthologs for TMEM92

Paralogs for TMEM92 Gene

Pseudogenes.org Pseudogenes for TMEM92 Gene

genes like me logo Genes that share paralogs with TMEM92: view

No data available for Paralogs for TMEM92 Gene

Variants for TMEM92 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM92 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs730882247 Likely Pathogenic: Hydrocephalus; Global developmental delay; Cerebellar atrophy; Bilateral squint 50,277,743(+) A/G
NM_153229.3(TMEM92):c.95+3A>G
INTRON
rs6504642 -- p.Ser90Thrp.Ser90Asn
rs9894445 -- p.Ala4Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM92 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 TMEM92 Gene

Variant ID Type Subtype PubMed ID
nsv509661 CNV insertion 20534489
nsv833475 CNV loss 17160897

Variation tolerance for TMEM92 Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM92 Gene

Human Gene Mutation Database (HGMD)
TMEM92
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM92
Leiden Open Variation Database (LOVD)
TMEM92

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM92 Gene

Disorders for TMEM92 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM92 Gene - From: CVR and GCD

Disorder Aliases PubMed IDs
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
hydrocephalus, congenital, 1
  • hyc1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM92

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 TMEM92: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM92 Gene

Publications for TMEM92 Gene

  1. 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) 2 3 4
  2. Unexpected diversity in Shisa-like proteins suggests the importance of their roles as transmembrane adaptors. (PMID: 22120523) Pei J … Grishin NV (Cellular signalling 2012) 2 3
  3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TMEM92 Gene

Sources for TMEM92 Gene