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Aliases for TMEM165 Gene

Aliases for TMEM165 Gene

  • Transmembrane Protein 165 2 3 5
  • Transmembrane Protein TPARL 3 4
  • Transmembrane Protein PT27 3 4
  • TPA Regulated Locus 2 3
  • TPARL 3 4
  • TMPT27 3
  • CDG2K 3
  • FT27 3
  • GDT1 3

External Ids for TMEM165 Gene

Previous GeneCards Identifiers for TMEM165 Gene

  • GC04P055956
  • GC04P056262
  • GC04P052211

Summaries for TMEM165 Gene

Entrez Gene Summary for TMEM165 Gene

  • This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

GeneCards Summary for TMEM165 Gene

TMEM165 (Transmembrane Protein 165) is a Protein Coding gene. Diseases associated with TMEM165 include Congenital Disorder Of Glycosylation, Type Iik and Ovarian Lymphoma.

UniProtKB/Swiss-Prot for TMEM165 Gene

  • May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation.

Additional gene information for TMEM165 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM165 Gene

Genomics for TMEM165 Gene

Regulatory Elements for TMEM165 Gene

Enhancers for TMEM165 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
GH04H055386 1.3 ENCODE dbSUPER 33.6 -8.7 -8673 2 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ZNF143 ATF7 NFYC TMEM165 ENSG00000272969 NMU SRD5A3-AS1 ENSG00000273257 LOC105377659
GH04H055436 1.1 ENCODE dbSUPER 28.8 +42.4 42403 2 HDAC1 PKNOX1 ATF1 FOXA2 TBL1XR1 TCF12 GATA2 CREM ZBTB2 ZEB2 RN7SKP30 TMEM165 CLOCK SRD5A3-AS1 PIR52615 GC04M055433 ENSG00000238585 GC04M055502
GH04H055543 1.1 ENCODE 28.2 +150.5 150464 4 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 RN7SKP30 TMEM165 AASDH CEP135 SRP72 NMU EXOC1 CLOCK ENSG00000272969 SRD5A3
GH04H055394 1.4 ENCODE dbSUPER 17.8 +1.4 1378 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 CEP135 TMEM165 RN7SKP30 CLOCK AASDH SRD5A3 NMU ENSG00000272969 GC04P055398
GH04H055553 0.8 Ensembl ENCODE 28.2 +157.7 157688 1 LCORL SAP130 ARID4B NFYC HOMEZ TMEM165 NMU CLOCK PDCL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM165 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM165 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000168595 1387 3801 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1

Genomic Location for TMEM165 Gene

Chromosome:
4
Start:
55,395,913 bp from pter
End:
55,453,397 bp from pter
Size:
57,485 bases
Orientation:
Plus strand

Genomic View for TMEM165 Gene

Genes around TMEM165 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM165 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM165 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM165 Gene

Proteins for TMEM165 Gene

  • Protein details for TMEM165 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC07-TM165_HUMAN
    Recommended name:
    Transmembrane protein 165
    Protein Accession:
    Q9HC07
    Secondary Accessions:
    • A8K3P8
    • B4DHW1
    • Q9BTN9
    • Q9NZ34

    Protein attributes for TMEM165 Gene

    Size:
    324 amino acids
    Molecular mass:
    34906 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF67653.1; Type=Frameshift; Positions=2, 7; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM165 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM165 Gene

Post-translational modifications for TMEM165 Gene

  • Ubiquitination at posLast=208208
  • Glycosylation at posLast=7373
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM165 Gene

No data available for DME Specific Peptides for TMEM165 Gene

Domains & Families for TMEM165 Gene

Gene Families for TMEM165 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM165 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM165 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HC07

UniProtKB/Swiss-Prot:

TM165_HUMAN :
  • Belongs to the GDT1 family.
Family:
  • Belongs to the GDT1 family.
genes like me logo Genes that share domains with TMEM165: view

Function for TMEM165 Gene

Molecular function for TMEM165 Gene

UniProtKB/Swiss-Prot Function:
May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation.
genes like me logo Genes that share phenotypes with TMEM165: view

Human Phenotype Ontology for TMEM165 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM165 Gene

MGI Knock Outs for TMEM165:

Animal Model Products

CRISPR Products

miRNA for TMEM165 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM165
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TMEM165 Gene

Localization for TMEM165 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM165 Gene

Golgi apparatus membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane. Lysosome membrane. Early endosome membrane. Late endosome membrane.

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 TMEM165 gene
Compartment Confidence
lysosome 5
golgi apparatus 5
endosome 5
plasma membrane 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM165 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA,IEA 23575229
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA 22683087
GO:0010008 endosome membrane IDA 23575229
genes like me logo Genes that share ontologies with TMEM165: view

Pathways & Interactions for TMEM165 Gene

SuperPathways for TMEM165 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM165 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation IMP 22683087
GO:0006874 cellular calcium ion homeostasis IGI 23569283
GO:0032472 Golgi calcium ion transport IDA 23569283
GO:0035751 regulation of lysosomal lumen pH IMP 23569283
genes like me logo Genes that share ontologies with TMEM165: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM165 Gene

Drugs & Compounds for TMEM165 Gene

No Compound Related Data Available

Transcripts for TMEM165 Gene

Unigene Clusters for TMEM165 Gene

Transmembrane protein 165:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM165
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM165 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d
SP1: - - - - - - - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:
SP6: - - - - - - - - - - - - - - - -
SP7: - - - - -
SP8:
SP9: - -
SP10:

Relevant External Links for TMEM165 Gene

GeneLoc Exon Structure for
TMEM165
ECgene alternative splicing isoforms for
TMEM165

Expression for TMEM165 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM165 Gene

Protein differential expression in normal tissues from HIPED for TMEM165 Gene

This gene is overexpressed in Nasal epithelium (39.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM165 Gene



Protein tissue co-expression partners for TMEM165 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM165 Gene:

TMEM165

SOURCE GeneReport for Unigene cluster for TMEM165 Gene:

Hs.479766

mRNA Expression by UniProt/SwissProt for TMEM165 Gene:

Q9HC07-TM165_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for TMEM165 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM165 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • coagulation system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TMEM165: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMEM165 Gene

Orthologs for TMEM165 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM165 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM165 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia TMEM165 33 34
  • 92.53 (n)
dog
(Canis familiaris)
Mammalia TMEM165 33 34
  • 89.67 (n)
mouse
(Mus musculus)
Mammalia Tmem165 33 16 34
  • 86.79 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911646 33
  • 86.58 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM165 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM165 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM165 33 34
  • 80.49 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM165 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem165 33
  • 76.88 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem165 33 34
  • 68.27 (n)
Dr.2671 33
fruit fly
(Drosophila melanogaster)
Insecta CG42542 33 34
  • 59.41 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011962 33
  • 57.96 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54F10AL.1 33
  • 58.27 (n)
Y54F10AL.1 34
  • 48 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL257W 33
  • 50.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDT1 33 34 36
  • 50.83 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23761g 33
  • 50.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G36290 33
  • 49.48 (n)
rice
(Oryza sativa)
Liliopsida Os11g0472500 33
  • 53.17 (n)
Os.9476 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01990 33
  • 50.61 (n)
Species where no ortholog for TMEM165 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM165 Gene

ENSEMBL:
Gene Tree for TMEM165 (if available)
TreeFam:
Gene Tree for TMEM165 (if available)

Paralogs for TMEM165 Gene

No data available for Paralogs for TMEM165 Gene

Variants for TMEM165 Gene

Sequence variations from dbSNP and Humsavar for TMEM165 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs387907221 Pathogenic, Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727] 55,411,783(+) TAACC(A/G)CCTGA nc-transcript-variant, reference, missense
rs387907222 Pathogenic, Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727] 55,411,782(+) ATAAC(C/T)GCCTG nc-transcript-variant, reference, missense
VAR_068448 Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]
rs793888506 Pathogenic 55,418,167(+) CAGGT(A/G)AAATT intron-variant
rs886037631 Pathogenic 55,425,387(+) TCATA(A/G)GAGGC intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TMEM165 Gene

Variant ID Type Subtype PubMed ID
esv23054 CNV loss 19812545
esv2660719 CNV deletion 23128226
esv2667161 CNV deletion 23128226
esv3600549 CNV loss 21293372
nsv1131801 CNV deletion 24896259
nsv594204 CNV loss 21841781

Variation tolerance for TMEM165 Gene

Residual Variation Intolerance Score: 32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM165 Gene

Human Gene Mutation Database (HGMD)
TMEM165
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM165

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM165 Gene

Disorders for TMEM165 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMEM165 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TM165_HUMAN
  • Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]: An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:22683087, ECO:0000269 PubMed:23430531, ECO:0000269 PubMed:23575229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM165

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM165
genes like me logo Genes that share disorders with TMEM165: view

No data available for Genatlas for TMEM165 Gene

Publications for TMEM165 Gene

  1. Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. (PMID: 23575229) Rosnoblet C … Foulquier F (Human molecular genetics 2013) 2 3 4 60
  2. TMEM165 deficiency causes a congenital disorder of glycosylation. (PMID: 22683087) Foulquier F … Matthijs G (American journal of human genetics 2012) 2 3 4 60
  3. Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. (PMID: 23569283) Demaegd D … Morsomme P (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for TMEM165 Gene

Sources for TMEM165 Gene

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