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Aliases for TMEM27 Gene

Aliases for TMEM27 Gene

  • Transmembrane Protein 27 2 3 4
  • Collectrin 2 3
  • NX17 3 6
  • Kidney-Specific Membrane Protein 3
  • NX-17 3

External Ids for TMEM27 Gene

Previous GeneCards Identifiers for TMEM27 Gene

  • GC0XM015007
  • GC0XM015405
  • GC0XM015555
  • GC0XM013399

Summaries for TMEM27 Gene

Entrez Gene Summary for TMEM27 Gene

  • This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]

GeneCards Summary for TMEM27 Gene

TMEM27 (Transmembrane Protein 27) is a Protein Coding gene. Diseases associated with TMEM27 include hartnup disorder and aminoaciduria. GO annotations related to this gene include metallopeptidase activity and peptidyl-dipeptidase activity. An important paralog of this gene is ACE.

UniProtKB/Swiss-Prot for TMEM27 Gene

  • Regulator of SNARE complex function. Stimulator of beta cell replication.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM27 Gene

Genomics for TMEM27 Gene

Regulatory Elements for TMEM27 Gene

Genomic Location for TMEM27 Gene

15,627,316 bp from pter
15,665,031 bp from pter
37,716 bases
Minus strand

Genomic View for TMEM27 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM27 Gene

Proteins for TMEM27 Gene

  • Protein details for TMEM27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R9M1
    • Q6UW07

    Protein attributes for TMEM27 Gene

    222 amino acids
    Molecular mass:
    25235 Da
    Quaternary structure:
    • Homodimer (By similarity). Associates with SLC6A18 (By similarity). Interacts with SNAPIN.
    • Sequence=AAQ89419.1; Type=Frameshift; Positions=207; Evidence={ECO:0000305};

neXtProt entry for TMEM27 Gene

Proteomics data for TMEM27 Gene at MOPED

Post-translational modifications for TMEM27 Gene

Other Protein References for TMEM27 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TMEM27 Gene

Domains for TMEM27 Gene

Protein Domains for TMEM27 Gene


Suggested Antigen Peptide Sequences for TMEM27 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9HBJ8
  • Belongs to the TMEM27 family.
genes like me logo Genes that share domains with TMEM27: view

No data available for Gene Families for TMEM27 Gene

Function for TMEM27 Gene

Molecular function for TMEM27 Gene

UniProtKB/Swiss-Prot Function:
Regulator of SNARE complex function. Stimulator of beta cell replication.

Gene Ontology (GO) - Molecular Function for TMEM27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16330323
GO:0008237 metallopeptidase activity IEA --
GO:0008241 peptidyl-dipeptidase activity IEA --
genes like me logo Genes that share ontologies with TMEM27: view
genes like me logo Genes that share phenotypes with TMEM27: view

Animal Models for TMEM27 Gene

MGI Knock Outs for TMEM27:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM27

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for TMEM27 Gene

Localization for TMEM27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM27 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for TMEM27 Gene COMPARTMENTS Subcellular localization image for TMEM27 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TMEM27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16330323
GO:0016021 integral component of membrane IEA --
GO:0031526 brush border membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TMEM27: view

Pathways for TMEM27 Gene

SuperPathways for TMEM27 Gene

No Data Available

Interacting Proteins for TMEM27 Gene

Gene Ontology (GO) - Biological Process for TMEM27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0035543 positive regulation of SNARE complex assembly IDA 16330323
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IDA 16330323
GO:0045956 positive regulation of calcium ion-dependent exocytosis IDA 16330323
GO:0051957 positive regulation of amino acid transport IEA --
genes like me logo Genes that share ontologies with TMEM27: view

No data available for Pathways by source for TMEM27 Gene

Transcripts for TMEM27 Gene

mRNA/cDNA for TMEM27 Gene

(101) Selected AceView cDNA sequences:
(6) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM27 Gene

Transmembrane protein 27:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM27

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM27 Gene

No ASD Table

Relevant External Links for TMEM27 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMEM27 Gene

mRNA expression in normal human tissues for TMEM27 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM27 Gene

This gene is overexpressed in Kidney - Cortex (35.1) and Liver (4.9).

Protein differential expression in normal tissues for TMEM27 Gene

This gene is overexpressed in Urine (63.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TMEM27 Gene

SOURCE GeneReport for Unigene cluster for TMEM27 Gene Hs.129614

mRNA Expression by UniProt/SwissProt for TMEM27 Gene

Tissue specificity: Kidney; collecting ducts. Pancreas; beta cells of islets.
genes like me logo Genes that share expressions with TMEM27: view

Expression partners for TMEM27 Gene

In Situ Assay Products

Orthologs for TMEM27 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM27 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TMEM27 35
  • 88.74 (n)
  • 89.64 (a)
-- 36
  • 84 (a)
TMEM27 36
  • 89 (a)
(Canis familiaris)
Mammalia TMEM27 35
  • 90.09 (n)
  • 89.19 (a)
TMEM27 36
  • 89 (a)
(Mus musculus)
Mammalia Tmem27 35
  • 86.64 (n)
  • 84.68 (a)
Tmem27 16
Tmem27 36
  • 85 (a)
(Rattus norvegicus)
Mammalia Tmem27 35
  • 86.34 (n)
  • 84.68 (a)
(Monodelphis domestica)
Mammalia TMEM27 36
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia TMEM27 36
  • 61 (a)
(Pan troglodytes)
Mammalia TMEM27 36
  • 100 (a)
(Gallus gallus)
Aves TMEM27 35
  • 67.12 (n)
  • 61.26 (a)
TMEM27 36
  • 60 (a)
(Anolis carolinensis)
Reptilia TMEM27 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem27 35
  • 55.05 (n)
  • 45.25 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68634 35
(Danio rerio)
Actinopterygii si:dkey-194e6.1 35
  • 53 (n)
  • 41.94 (a)
TMEM27 36
  • 40 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ance-2 36
  • 1 (a)
Ance-4 36
  • 1 (a)
Ance-5 36
  • 1 (a)
(Caenorhabditis elegans)
Secernentea acn-1 36
  • 3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 15 (a)
Species with no ortholog for TMEM27:
  • 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)
  • 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 (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)

Evolution for TMEM27 Gene

Gene Tree for TMEM27 (if available)
Gene Tree for TMEM27 (if available)

Paralogs for TMEM27 Gene

Paralogs for TMEM27 Gene

Selected SIMAP similar genes for TMEM27 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMEM27: view

Variants for TMEM27 Gene

Sequence variations from dbSNP and Humsavar for TMEM27 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs723645 -- 15,641,026(-) TTTGG(A/T)CTAAA intron-variant
rs990432 -- 15,639,988(-) CAACA(A/G)TGGGG intron-variant
rs1055316 -- 15,627,428(-) ATTTT(C/T)TGAAT utr-variant-3-prime
rs1233070 -- 15,646,799(+) ACCCC(C/G)CCACC intron-variant
rs1515009 -- 15,631,329(-) ACAGG(C/T)TTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM27 Gene

Variant ID Type Subtype PubMed ID
dgv2439e1 CNV Complex 17122850

Relevant External Links for TMEM27 Gene

HapMap Linkage Disequilibrium report
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM27 Gene

Disorders for TMEM27 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for TMEM27 Gene in MalaCards »

(2) Diseases for TMEM27 Gene including...

(1) University of Copenhagen DISEASES for TMEM27 Gene

Relevant External Links for TMEM27

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TMEM27: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for TMEM27 Gene

Publications for TMEM27 Gene

  1. Collectrin, a collecting duct-specific transmembrane glycoprotein, is a novel homolog of ACE2 and is developmentally regulated in embryonic kidneys. (PMID: 11278314) Zhang H. … Makino H. (J. Biol. Chem. 2001) 2 3 4 23
  2. Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. (PMID: 19582483) Tosetto E. … Anglani F. (Pediatr. Nephrol. 2009) 3 23 48
  3. Not just angiotensinases: new roles for the angiotensin-converting enzymes. (PMID: 19763395) Lambert D.W. … Turner A.J. (Cell. Mol. Life Sci. 2010) 3 23
  4. Collectrin and the kidney. (PMID: 17693757) Mount D.B. (Curr. Opin. Nephrol. Hypertens. 2007) 3 23
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for TMEM27 Gene

Sources for TMEM27 Gene

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