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Aliases for TMEM27 Gene

Aliases for TMEM27 Gene

  • Transmembrane Protein 27 2 3 4 5
  • Collectrin 2 3
  • Kidney-Specific Membrane Protein 3
  • 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. Among its related pathways are Metabolism of proteins and Peptide hormone metabolism. GO annotations related to this gene include metallopeptidase activity and peptidyl-dipeptidase activity. An important paralog of this gene is ACE2.

UniProtKB/Swiss-Prot for TMEM27 Gene

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

No data available for CIViC summary , 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 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
GH0XG015673 1.6 FANTOM5 ENCODE dbSUPER 33.5 -10.6 -10613 3.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 TMEM27 ENSG00000200620 AP1S2 PIGA ZRSR2 CA5BP1 CA5B
GH0XG015663 1 ENCODE dbSUPER 33 +0.3 348 2.0 HDAC1 TAL1 TCF12 ZNF766 GATA2 NCOR1 ZNF652 MTA2 RNF2 E2F5 TMEM27 LOC105373140
GH0XG015604 0.6 ENCODE 40 +58.8 58772 4.5 HIC1 ZNF316 PKNOX1 REST EMSY ZNF48 MAFK TMEM27 GS1-594A7.3 ENSG00000237539
GH0XG015596 0.8 ENCODE 27.9 +65.4 65438 6.7 SOX13 FOXA2 SAP130 JUN CEBPG RARA TEAD3 GATA3 CTBP1 NCOR1 TMEM27 PIR CA5BP1 CA5B ACE2
GH0XG015717 0.6 ENCODE 32.4 -53.7 -53689 1.5 FOSL1 L3MBTL2 SMAD5 POLR2A DPF2 ZNF652 TMEM27 CA5B CA5BP1 PIR ENSG00000200620 GC0XP015773
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for TMEM27 Gene

Other Protein References for TMEM27 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TMEM27

Protein Products

  • Abcam proteins for TMEM27

No data available for DME Specific Peptides for TMEM27 Gene

Domains & Families 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

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.

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

  • Taconic Biosciences Mouse Models for TMEM27

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 TMEM27 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 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:0016020 membrane IEA --
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 & Interactions for TMEM27 Gene

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

Pathways by source 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 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

Unigene Clusters for TMEM27 Gene

Transmembrane protein 27:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for TMEM27 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM27 Gene:

TMEM27

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.

Evidence on tissue expression from TISSUES for TMEM27 Gene

  • Kidney(4.8)
  • Intestine(4.2)
  • Bone marrow(4)
genes like me logo Genes that share expression patterns with TMEM27: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM27 Gene

Orthologs for TMEM27 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM27 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM27 34 35
  • 90.09 (n)
cow
(Bos Taurus)
Mammalia TMEM27 34 35
  • 88.74 (n)
-- 35
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tmem27 34 16 35
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Tmem27 34
  • 86.34 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM27 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM27 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM27 34 35
  • 67.12 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM27 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem27 34
  • 55.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68634 34
zebrafish
(Danio rerio)
Actinopterygii si:dkey-194e6.1 34
  • 53 (n)
TMEM27 35
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ance-2 35
  • 1 (a)
OneToMany
Ance-4 35
  • 1 (a)
OneToMany
Ance-5 35
  • 1 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acn-1 35
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 15 (a)
ManyToMany
Species where no ortholog for TMEM27 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)
  • 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
rs1000013860 -- 15,672,246(+) ATGGA(A/G)ACCAA intron-variant
rs1000036474 -- 15,669,492(+) GCACT(A/G)AGTCT intron-variant
rs1000122135 -- 15,662,898(+) CTCCT(C/G)TCTCT intron-variant
rs1000243344 -- 15,663,319(+) ACTAG(C/T)AGAGA intron-variant
rs1000364220 -- 15,631,516(+) ATCTC(A/G)CTTCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2758862 CNV loss 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 22 46 64
  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 22 64
  4. 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 22 64
  5. Collectrin and the kidney. (PMID: 17693757) Mount D.B. (Curr. Opin. Nephrol. Hypertens. 2007) 3 22 64

Products for TMEM27 Gene

Sources for TMEM27 Gene

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