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Aliases for TMEM27 Gene

Aliases for TMEM27 Gene

  • Transmembrane Protein 27 2 3 4 5
  • Kidney-Specific Membrane Protein 3
  • Collectrin 2
  • NX-17 3
  • NX17 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

Enhancers for TMEM27 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMEM27 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM27 Gene

Chromosome:
X
Start:
15,627,316 bp from pter
End:
15,665,031 bp from pter
Size:
37,716 bases
Orientation:
Minus strand

Genomic View for TMEM27 Gene

Genes around TMEM27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q9HBJ8-TMM27_HUMAN
    Recommended name:
    Collectrin
    Protein Accession:
    Q9HBJ8
    Secondary Accessions:
    • B2R9M1
    • Q6UW07

    Protein attributes for TMEM27 Gene

    Size:
    222 amino acids
    Molecular mass:
    25235 Da
    Quaternary structure:
    • Homodimer (By similarity). Associates with SLC6A18 (By similarity). Interacts with SNAPIN.
    SequenceCaution:
    • 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 & Families for TMEM27 Gene

Protein Domains for TMEM27 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM27 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HBJ8

UniProtKB/Swiss-Prot:

TMM27_HUMAN :
  • Belongs to the TMEM27 family.
Family:
  • 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.
genes like me logo Genes that share phenotypes with TMEM27: view

Animal Models for TMEM27 Gene

MGI Knock Outs for TMEM27:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM27

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for TMEM27 Gene COMPARTMENTS Subcellular localization image for TMEM27 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 1
lysosome 1
vacuole 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 --
genes like me logo Genes that share ontologies with TMEM27: view

Pathways & Interactions 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: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
genes like me logo Genes that share ontologies with TMEM27: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM27 Gene

Drugs & Compounds for TMEM27 Gene

No Compound Related Data Available

Transcripts for TMEM27 Gene

mRNA/cDNA for TMEM27 Gene

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

Unigene Clusters for TMEM27 Gene

Transmembrane protein 27:
Representative Sequences:

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

No ASD Table

Relevant External Links for TMEM27 Gene

GeneLoc Exon Structure for
TMEM27
ECgene alternative splicing isoforms for
TMEM27

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 (x35.1) and Liver (x4.9).

Protein differential expression in normal tissues from HIPED for TMEM27 Gene

This gene is overexpressed in Urine (63.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q9HBJ8-TMM27_HUMAN
Tissue specificity: Kidney; collecting ducts. Pancreas; beta cells of islets.
genes like me logo Genes that share expression patterns with TMEM27: view

Protein tissue co-expression partners for TMEM27 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia TMEM27 35
  • 88.74 (n)
  • 89.64 (a)
-- 36
  • 84 (a)
OneToMany
TMEM27 36
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TMEM27 35
  • 90.09 (n)
  • 89.19 (a)
TMEM27 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem27 35
  • 86.64 (n)
  • 84.68 (a)
Tmem27 16
Tmem27 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem27 35
  • 86.34 (n)
  • 84.68 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM27 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM27 36
  • 61 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM27 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM27 35
  • 67.12 (n)
  • 61.26 (a)
TMEM27 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM27 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem27 35
  • 55.05 (n)
  • 45.25 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68634 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-194e6.1 35
  • 53 (n)
  • 41.94 (a)
TMEM27 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ance-2 36
  • 1 (a)
OneToMany
Ance-4 36
  • 1 (a)
OneToMany
Ance-5 36
  • 1 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acn-1 36
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 15 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for TMEM27 (if available)
TreeFam:
Gene Tree for TMEM27 (if available)

Paralogs for TMEM27 Gene

Paralogs for TMEM27 Gene

(1) 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
rs747686599 -- 15,630,368(+) AGAAG(-/GAAGG)AAGGA intron-variant
rs747764661 -- 15,653,080(+) CATCT(A/C)AAAAA intron-variant
rs747804231 -- 15,640,206(+) CATGG(-/C)CAACA intron-variant
rs747821573 -- 15,632,994(+) AATTA(C/T)CGGGG intron-variant
rs747835906 -- 15,660,963(+) TTCAT(C/T)TGATA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2439e1 CNV Complex 17122850

Variation tolerance for TMEM27 Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM27 Gene

HapMap Linkage Disequilibrium report
TMEM27

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

Disorders for TMEM27 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM27 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hartnup disorder
  • hartnup disease
aminoaciduria
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM27

Genetic Association Database (GAD)
TMEM27
Human Genome Epidemiology (HuGE) Navigator
TMEM27
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM27
genes like me logo Genes that share disorders with TMEM27: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. 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
  3. The role of transmembrane protein 27 (TMEM27) in islet physiology and its potential use as a beta cell mass biomarker. (PMID: 20386877) Altirriba J. … Gomis R. (Diabetologia 2010) 3 23
  4. 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
  5. Collectrin and the kidney. (PMID: 17693757) Mount D.B. (Curr. Opin. Nephrol. Hypertens. 2007) 3 23

Products for TMEM27 Gene

Sources for TMEM27 Gene

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