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Aliases for CLTRN Gene

Aliases for CLTRN Gene

  • Collectrin, Amino Acid Transport Regulator 2 3
  • Transmembrane Protein 27 2 3 4 5
  • TMEM27 3 4 5
  • Collectrin 2 3
  • Kidney-Specific Membrane Protein 3
  • NX-17 3
  • NX17 3

External Ids for CLTRN Gene

Previous HGNC Symbols for CLTRN Gene

  • TMEM27

Summaries for CLTRN Gene

Entrez Gene Summary for CLTRN 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 CLTRN Gene

CLTRN (Collectrin, Amino Acid Transport Regulator) is a Protein Coding gene. Diseases associated with CLTRN include Aminoaciduria and Polycystic Kidney Disease 4 With Or Without Hepatic Disease. Among its related pathways are Peptide hormone metabolism and Metabolism of proteins. An important paralog of this gene is ACE2.

UniProtKB/Swiss-Prot for CLTRN Gene

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

Additional gene information for CLTRN Gene

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

Genomics for CLTRN Gene

GeneHancer (GH) Regulatory Elements for CLTRN Gene

Promoters and enhancers for CLTRN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI015663 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 583 +0.3 347 2 CLTRN LOC105373140
GH0XI015673 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 33.5 -10.6 -10613 3.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CA5BP1 CLTRN ENSG00000200620 AP1S2 PIGA ZRSR2 CA5B
GH0XI015596 Promoter/Enhancer 1.2 EPDnew ENCODE 27.9 +65.4 65437 6.7 SOX13 FOXA2 SAP130 JUN CEBPG RARA TEAD3 GATA3 NR2F6 HOMEZ ACE2 CLTRN PIR CA5BP1 CA5B GS1-594A7.3
GH0XI015737 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 13.4 -73.3 -73266 2.2 HDGF PKNOX1 SIN3A YY1 GLIS2 ZNF143 KLF13 SP3 NCOA1 ZNF518A CA5B CLTRN CA5BP1 ENSG00000200620 VEGFD GC0XP015773
GH0XI015604 Enhancer 0.5 ENCODE 40 +58.8 58772 4.5 HIC1 PKNOX1 ZNF316 MAFK EMSY ZNF48 CLTRN GS1-594A7.3 ENSG00000237539
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLTRN on UCSC Golden Path with GeneCards custom track

Genomic Locations for CLTRN Gene

Genomic Locations for CLTRN Gene
chrX:15,627,316-15,665,031
(GRCh38/hg38)
Size:
37,716 bases
Orientation:
Minus strand
chrX:15,645,441-15,683,154
(GRCh37/hg19)

Genomic View for CLTRN Gene

Genes around CLTRN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CLTRN Gene

Proteins for CLTRN Gene

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

    Protein Symbol:
    Q9HBJ8-TMM27_HUMAN
    Recommended name:
    Collectrin
    Protein Accession:
    Q9HBJ8
    Secondary Accessions:
    • B2R9M1
    • Q6UW07

    Protein attributes for CLTRN 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 CLTRN Gene

Post-translational modifications for CLTRN Gene

Other Protein References for CLTRN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLTRN Gene

Domains & Families for CLTRN Gene

Gene Families for CLTRN Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for CLTRN Gene

Suggested Antigen Peptide Sequences for CLTRN 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 CLTRN: view

Function for CLTRN Gene

Molecular function for CLTRN Gene

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

Gene Ontology (GO) - Molecular Function for CLTRN 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 CLTRN: view
genes like me logo Genes that share phenotypes with CLTRN: view

Animal Models for CLTRN Gene

MGI Knock Outs for CLTRN:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CLTRN Gene

Localization for CLTRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLTRN 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 CLTRN gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLTRN 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,HDA 19056867
genes like me logo Genes that share ontologies with CLTRN: view

Pathways & Interactions for CLTRN Gene

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

Pathways by source for CLTRN Gene

Gene Ontology (GO) - Biological Process for CLTRN 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 CLTRN: view

No data available for SIGNOR curated interactions for CLTRN Gene

Drugs & Compounds for CLTRN Gene

No Compound Related Data Available

Transcripts for CLTRN Gene

mRNA/cDNA for CLTRN Gene

Clone Products

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

No ASD Table

Relevant External Links for CLTRN Gene

GeneLoc Exon Structure for
CLTRN
ECgene alternative splicing isoforms for
CLTRN

Expression for CLTRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CLTRN Gene:

CLTRN

mRNA Expression by UniProt/SwissProt for CLTRN Gene:

Q9HBJ8-TMM27_HUMAN
Tissue specificity: Kidney; collecting ducts. Pancreas; beta cells of islets.

Evidence on tissue expression from TISSUES for CLTRN Gene

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

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLTRN Gene

Orthologs for CLTRN Gene

This gene was present in the common ancestor of animals.

Orthologs for CLTRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM27 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM27 34 33
  • 90.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM27 33 34
  • 88.74 (n)
-- 34
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tmem27 34 16 33
  • 86.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem27 33
  • 86.34 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM27 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM27 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM27 34 33
  • 67.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM27 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem27 33
  • 55.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68634 33
zebrafish
(Danio rerio)
Actinopterygii si:dkey-194e6.1 33
  • 53 (n)
TMEM27 34
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ance-2 34
  • 1 (a)
OneToMany
Ance-4 34
  • 1 (a)
OneToMany
Ance-5 34
  • 1 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acn-1 34
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 15 (a)
ManyToMany
Species where no ortholog for CLTRN 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 CLTRN Gene

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

Paralogs for CLTRN Gene

Paralogs for CLTRN Gene

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

Variants for CLTRN Gene

Sequence variations from dbSNP and Humsavar for CLTRN Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000013860 -- 15,672,246(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000036474 -- 15,669,492(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000122135 -- 15,662,898(-) C/G intron_variant
rs1000243344 -- 15,663,319(-) T/C intron_variant
rs1000364220 -- 15,631,516(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv2758862 CNV loss 17122850

Variation tolerance for CLTRN 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)

Additional Variant Information for CLTRN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLTRN

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

Disorders for CLTRN Gene

MalaCards: The human disease database

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

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

Additional Disease Information for CLTRN

genes like me logo Genes that share disorders with CLTRN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLTRN Gene

Publications for CLTRN 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 (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. 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 58
  3. Not just angiotensinases: new roles for the angiotensin-converting enzymes. (PMID: 19763395) Lambert DW … Turner AJ (Cellular and molecular life sciences : CMLS 2010) 3 22 58
  4. Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. (PMID: 19582483) Tosetto E … Anglani F (Pediatric nephrology (Berlin, Germany) 2009) 3 22 58
  5. Collectrin and the kidney. (PMID: 17693757) Mount DB (Current opinion in nephrology and hypertension 2007) 3 22 58

Products for CLTRN Gene

Sources for CLTRN Gene

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