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Aliases for TMEM5 Gene

Aliases for TMEM5 Gene

  • Transmembrane Protein 5 2 3
  • MDDGA10 3 6
  • Type II Membrane Protein 3
  • HP10481 3

External Ids for TMEM5 Gene

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 is a Protein Coding gene. Diseases associated with TMEM5 include muscular dystrophy-dystroglycanopathy , type a, 10 and walker-warburg syndrome.

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

Genomic Location for TMEM5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM5 Gene

Regulatory Elements 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

Proteomics data for TMEM5 Gene at MOPED

Post-translational modifications for TMEM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM5 Gene

No data available for DME Specific Peptides for TMEM5 Gene

Domains for TMEM5 Gene

Protein Domains for TMEM5 Gene

ProtoNet:

UniProtKB/Swiss-Prot:

TMEM5_HUMAN
Family:
  • Belongs to the TMEM5 family.:
    • Q9Y2B1
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.

miRNA for TMEM5 Gene

miRTarBase miRNAs that target TMEM5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting 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
plasma membrane 4
golgi apparatus 3
cytosol 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 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 IDA 25279699
GO:0005887 integral component of plasma membrane TAS 10072769
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with TMEM5: view

Pathways for TMEM5 Gene

SuperPathways for TMEM5 Gene

No Data Available

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: ENSP00000261234 for TMEM5 Gene via STRING

Symbol External ID(s) Details
GPR3

Gene Ontology (GO) - Biological Process for TMEM5 Gene

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

No data available for Pathways by source for TMEM5 Gene

Transcripts for TMEM5 Gene

Unigene Clusters for TMEM5 Gene

Transmembrane protein 5:
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TMEM5 Gene

SOURCE GeneReport for Unigene cluster for TMEM5 Gene Hs.216386

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

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 36
  • 99.7 (n)
  • 99.55 (a)
TMEM5 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM5 36
  • 88.26 (n)
  • 85.78 (a)
TMEM5 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM5 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem5 36
  • 85.67 (n)
  • 83.48 (a)
Tmem5 16
Tmem5 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM5 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem5 36
  • 85.82 (n)
  • 85.07 (a)
chicken
(Gallus gallus)
Aves TMEM5 36
  • 73.17 (n)
  • 69.72 (a)
TMEM5 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM5 37
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29709 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15588 36
tmem5 36
  • 61.27 (n)
  • 58.1 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem5 36
  • 56.52 (n)
  • 56.44 (a)
tmem5 37
  • 55 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToOne
Species with no ortholog for TMEM5:
  • 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 MAF
rs870799 -- 63,797,616(-) ACCAT(A/G)ATCTG intron-variant
rs949955 -- 63,794,848(-) ATTCT(A/G)CTACA intron-variant
rs949956 -- 63,794,670(-) CGGTC(A/G)AAAGG intron-variant
rs1876465 -- 63,809,110(+) GCTAA(C/G)ATGTG utr-variant-3-prime
rs2135946 -- 63,792,219(+) TCTAA(A/G)AACTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv517e1 CNV Complex 17122850
nsv899171 CNV Loss 21882294
esv2751110 CNV Gain 17911159
nsv832441 CNV Loss 17160897
nsv746 CNV Loss 18451855

Relevant External Links for TMEM5 Gene

HapMap Linkage Disequilibrium report
TMEM5
Human Gene Mutation Database (HGMD)
TMEM5

Disorders for TMEM5 Gene

(1) OMIM Diseases for TMEM5 Gene (605862)

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.

(1) University of Copenhagen DISEASES for TMEM5 Gene

Relevant External Links for TMEM5

Genetic Association Database (GAD)
TMEM5
Human Genome Epidemiology (HuGE) Navigator
TMEM5
genes like me logo Genes that share disorders with TMEM5: view

Publications for TMEM5 Gene

  1. Selection of cDNAs encoding putative type II membrane proteins on the cell surface from a human full-length cDNA bank. (PMID: 10072769) Yokoyama-Kobayashi M. … Kato S. (Gene 1999) 2 3 4
  2. 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
  3. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. (PMID: 23519211) Jae L.T. … Brummelkamp T.R. (Science 2013) 3 4
  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
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TMEM5 Gene

Sources for TMEM5 Gene

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