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Aliases for TMEM5 Gene

Aliases for TMEM5 Gene

  • Transmembrane Protein 5 2 3 5
  • Type II Membrane Protein 3
  • HP10481 3
  • MDDGA10 3

External Ids for TMEM5 Gene

Previous GeneCards Identifiers for TMEM5 Gene

  • GC12P064228
  • GC12P062459
  • GC12P064173
  • GC12P061224

Summaries for TMEM5 Gene

Entrez Gene Summary for TMEM5 Gene

  • This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

GeneCards Summary for TMEM5 Gene

TMEM5 (Transmembrane Protein 5) is a Protein Coding gene. Diseases associated with TMEM5 include Muscular Dystrophy-Dystroglycanopathy , Type A, 10 and Muscular Dystrophy-Dystroglycanopathy , Type A, 1. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism.

UniProtKB/Swiss-Prot for TMEM5 Gene

  • Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM5 Gene

Genomics for TMEM5 Gene

Regulatory Elements for TMEM5 Gene

Enhancers for TMEM5 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
GH12F064699 1.1 Ensembl ENCODE 10.6 +920.9 920899 2.4 CTCF ZFP64 ZNF140 MAX ZNF266 ZNF101 ZNF316 ZNF354C ZNF547 ZNF433 LEMD3 TBK1 LOC100420899 LOC105369804 RASSF3 PABPC1P4 TMEM5 GNS ENSG00000280320 ENSG00000280181
GH12F062933 0.5 ENCODE 10.6 -845.3 -845271 2.9 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 TMEM5 PPM1H GC12M062851 RNU1-83P
GH12F064403 0.8 ENCODE 10.5 +625.0 624982 3.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF548 TBK1 LOC100420899 LEMD3 TMEM5 ENSG00000250280 C12orf56 XPOT
GH12F063779 0.4 ENCODE 5.5 +0.4 379 1.9 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 KLF13 SP3 PABPC1P4 TMEM5 ENSG00000249753
GH12F063814 1 Ensembl ENCODE 5 +35.0 35029 1.1 IKZF1 JUNB RELA TMEM5 PABPC1P4 ENSG00000249753
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM5 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089089 398 2000 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 KLF13 SP3

Genomic Location for TMEM5 Gene

Chromosome:
12
Start:
63,779,803 bp from pter
End:
63,809,558 bp from pter
Size:
29,756 bases
Orientation:
Plus strand

Genomic View for TMEM5 Gene

Genes around TMEM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM5 Gene

Proteins for TMEM5 Gene

  • Protein details for TMEM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2B1-TMEM5_HUMAN
    Recommended name:
    Transmembrane protein 5
    Protein Accession:
    Q9Y2B1
    Secondary Accessions:
    • A8K017
    • Q6PKD6

    Protein attributes for TMEM5 Gene

    Size:
    443 amino acids
    Molecular mass:
    51146 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH02596.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for TMEM5 Gene

Post-translational modifications for TMEM5 Gene

  • Glycosylation at Ser 91
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM5 Gene

No data available for DME Specific Peptides for TMEM5 Gene

Domains & Families for TMEM5 Gene

Protein Domains for TMEM5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2B1

UniProtKB/Swiss-Prot:

TMEM5_HUMAN :
  • Belongs to the TMEM5 family.
Family:
  • Belongs to the TMEM5 family.
genes like me logo Genes that share domains with TMEM5: view

No data available for Gene Families for TMEM5 Gene

Function for TMEM5 Gene

Molecular function for TMEM5 Gene

UniProtKB/Swiss-Prot Function:
Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.
genes like me logo Genes that share phenotypes with TMEM5: view

Human Phenotype Ontology for TMEM5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM5

miRNA for TMEM5 Gene

miRTarBase miRNAs that target TMEM5

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM5 Gene

Localization for TMEM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM5 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM5 Gene COMPARTMENTS Subcellular localization image for TMEM5 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
nucleus 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TMEM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA,IDA 25279699
GO:0005887 integral component of plasma membrane TAS 10072769
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM5: view

Pathways & Interactions for TMEM5 Gene

genes like me logo Genes that share pathways with TMEM5: view

Pathways by source for TMEM5 Gene

UniProtKB/Swiss-Prot Q9Y2B1-TMEM5_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for TMEM5 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261234%0d%0a9606.ENSP00000363136%0d%0a
Selected Interacting proteins: Q9Y2B1-TMEM5_HUMAN ENSP00000261234 for TMEM5 Gene via IID STRING

Gene Ontology (GO) - Biological Process for TMEM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0035269 protein O-linked mannosylation IMP 25279699
genes like me logo Genes that share ontologies with TMEM5: view

No data available for SIGNOR curated interactions for TMEM5 Gene

Transcripts for TMEM5 Gene

Unigene Clusters for TMEM5 Gene

Transmembrane protein 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: - - -
SP2: -
SP3:
SP4:

Relevant External Links for TMEM5 Gene

GeneLoc Exon Structure for
TMEM5
ECgene alternative splicing isoforms for
TMEM5

Expression for TMEM5 Gene

mRNA expression in normal human tissues for TMEM5 Gene

Protein differential expression in normal tissues from HIPED for TMEM5 Gene

This gene is overexpressed in Prostate (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM5 Gene



Protein tissue co-expression partners for TMEM5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM5 Gene:

TMEM5

SOURCE GeneReport for Unigene cluster for TMEM5 Gene:

Hs.216386
genes like me logo Genes that share expression patterns with TMEM5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM5 Gene

Orthologs for TMEM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM5 34 35
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia TMEM5 34 35
  • 88.26 (n)
rat
(Rattus norvegicus)
Mammalia Tmem5 34
  • 85.82 (n)
mouse
(Mus musculus)
Mammalia Tmem5 34 16 35
  • 85.67 (n)
dog
(Canis familiaris)
Mammalia TMEM5 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM5 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM5 34 35
  • 73.17 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM5 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem5 34
  • 61.27 (n)
Str.15588 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.29709 34
zebrafish
(Danio rerio)
Actinopterygii tmem5 34 35
  • 56.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for TMEM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for TMEM5 Gene

ENSEMBL:
Gene Tree for TMEM5 (if available)
TreeFam:
Gene Tree for TMEM5 (if available)

Paralogs for TMEM5 Gene

No data available for Paralogs for TMEM5 Gene

Variants for TMEM5 Gene

Sequence variations from dbSNP and Humsavar for TMEM5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs150736997 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041], Pathogenic 63,808,776(+) ATGCT(A/G)TCGAA nc-transcript-variant, downstream-variant-500B, reference, missense
rs397514544 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]
rs397514543 Pathogenic 63,805,285(+) GATGA(-/G)AGGCC nc-transcript-variant, reference, frameshift-variant
rs397514545 Pathogenic 63,808,824(+) GGAAG(-/ACGTGATGACAGCTGGCAACTGTGGGAA)TACAT nc-transcript-variant, reference, frameshift-variant
rs397514546 Pathogenic 63,781,128(+) ACGAA(-/A)GGAAA nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM5 Gene

Variant ID Type Subtype PubMed ID
esv2751110 CNV gain 17911159
esv2759905 CNV gain 17122850
esv3629762 CNV loss 21293372
nsv1046836 CNV gain 25217958
nsv746 CNV deletion 18451855
nsv832441 CNV loss 17160897

Variation tolerance for TMEM5 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.61; 65.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM5 Gene

Human Gene Mutation Database (HGMD)
TMEM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM5 Gene

Disorders for TMEM5 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TMEM5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TMEM5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TMEM5_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:23217329, ECO:0000269 PubMed:23519211}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM5

Genetic Association Database (GAD)
TMEM5
Human Genome Epidemiology (HuGE) Navigator
TMEM5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM5
genes like me logo Genes that share disorders with TMEM5: view

No data available for Genatlas for TMEM5 Gene

Publications for TMEM5 Gene

  1. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (PMID: 23217329) Vuillaumier-Barrot S. … Seta N. (Am. J. Hum. Genet. 2012) 2 3 4 64
  2. The functional O-mannose glycan on I+-dystroglycan contains a phospho-ribitol primed for matriglycan addition. (PMID: 27130732) Praissman J.L. … Wells L. (Elife 2016) 2 3 64
  3. The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol I^1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. (PMID: 27733679) Manya H. … Endo T. (J. Biol. Chem. 2016) 2 3 64
  4. The glucuronyltransferase B4GAT1 is required for initiation of LARGE- mediated alpha-dystroglycan functional glycosylation. (PMID: 25279699) Willer T. … Campbell K.P. (Elife 2014) 3 4 64
  5. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. (PMID: 23519211) Jae L.T. … Brummelkamp T.R. (Science 2013) 3 4 64

Products for TMEM5 Gene

Sources for TMEM5 Gene

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