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Aliases for TMEM114 Gene

Aliases for TMEM114 Gene

  • Transmembrane Protein 114 2 3

External Ids for TMEM114 Gene

Summaries for TMEM114 Gene

Entrez Gene Summary for TMEM114 Gene

  • This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for TMEM114 Gene

TMEM114 (Transmembrane Protein 114) is a Protein Coding gene. An important paralog of this gene is TMEM235.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM114 Gene

Genomics for TMEM114 Gene

Genomic Location for TMEM114 Gene

Start:
8,537,605 bp from pter
End:
8,590,193 bp from pter
Size:
52,589 bases
Orientation:
Minus strand

Genomic View for TMEM114 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM114 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM114 Gene

Regulatory Elements for TMEM114 Gene

Proteins for TMEM114 Gene

  • Protein details for TMEM114 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B3SHH9-TM114_HUMAN
    Recommended name:
    Transmembrane protein 114
    Protein Accession:
    B3SHH9
    Secondary Accessions:

    Protein attributes for TMEM114 Gene

    Size:
    223 amino acids
    Molecular mass:
    24166 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM114 Gene

Proteomics data for TMEM114 Gene at MOPED

Post-translational modifications for TMEM114 Gene

Other Protein References for TMEM114 Gene

No data available for DME Specific Peptides for TMEM114 Gene

Domains for TMEM114 Gene

Protein Domains for TMEM114 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM114 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

B3SHH9

UniProtKB/Swiss-Prot:

TM114_HUMAN
Family:
  • Belongs to the PMP-22/EMP/MP20 family.:
    • B3SHH9
genes like me logo Genes that share domains with TMEM114: view

No data available for Gene Families for TMEM114 Gene

Function for TMEM114 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMEM114 Gene

Localization for TMEM114 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM114 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM114 Gene COMPARTMENTS Subcellular localization image for TMEM114 gene
Compartment Confidence
extracellular 2
plasma membrane 2
cytosol 1

Gene Ontology (GO) - Cellular Components for TMEM114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0016327 apicolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with TMEM114: view

Pathways for TMEM114 Gene

SuperPathways for TMEM114 Gene

No Data Available

Interacting Proteins for TMEM114 Gene

Gene Ontology (GO) - Biological Process for TMEM114 Gene

None

No data available for Pathways by source for TMEM114 Gene

Transcripts for TMEM114 Gene

Unigene Clusters for TMEM114 Gene

Transmembrane protein 114:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM114 Gene

No ASD Table

Relevant External Links for TMEM114 Gene

GeneLoc Exon Structure for
TMEM114
ECgene alternative splicing isoforms for
TMEM114

Expression for TMEM114 Gene

mRNA expression in normal human tissues for TMEM114 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM114 Gene

This gene is overexpressed in Brain - Hypothalamus (29.5) and Pituitary (6.2).

SOURCE GeneReport for Unigene cluster for TMEM114 Gene Hs.150849

genes like me logo Genes that share expressions with TMEM114: view

No data available for Protein expression and mRNA Expression by UniProt/SwissProt for TMEM114 Gene

Orthologs for TMEM114 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM114 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM114 35
  • 99.11 (n)
  • 98.67 (a)
TMEM114 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM114 35
  • 89.24 (n)
  • 87.44 (a)
TMEM114 36
  • 48 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM114 35
  • 90.98 (n)
  • 89.34 (a)
TMEM114 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cldn26 35
  • 81.98 (n)
  • 85.14 (a)
Cldn26 16
Cldn26 36
  • 48 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM114 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM114 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem114 35
  • 82.28 (n)
  • 82.88 (a)
chicken
(Gallus gallus)
Aves TMEM114 35
  • 67.3 (n)
  • 66.51 (a)
TMEM114 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM114 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem114 35
  • 62.5 (n)
  • 67.71 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100150208 35
  • 59.89 (n)
  • 58.29 (a)
TMEM114 36
  • 33 (a)
OneToOne
Species with no ortholog for TMEM114:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM114 Gene

ENSEMBL:
Gene Tree for TMEM114 (if available)
TreeFam:
Gene Tree for TMEM114 (if available)

Paralogs for TMEM114 Gene

Paralogs for TMEM114 Gene

Selected SIMAP similar genes for TMEM114 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TMEM114: view

Variants for TMEM114 Gene

Sequence variations from dbSNP and Humsavar for TMEM114 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1109083 -- 8,530,277(+) TGATC(A/G)AGTCA intron-variant
rs1528336 -- 8,531,922(-) AGGTT(C/T)CCTAT intron-variant
rs1528337 -- 8,531,797(-) ATTCA(A/G)TTTTC intron-variant
rs1881351 -- 8,570,481(-) GGTGG(C/T)GGGCA intron-variant
rs1881352 -- 8,570,469(-) CTGTA(G/T)TCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM114 Gene

Variant ID Type Subtype PubMed ID
dgv340n27 CNV Gain 19166990

Relevant External Links for TMEM114 Gene

HapMap Linkage Disequilibrium report
TMEM114
Human Gene Mutation Database (HGMD)
TMEM114
Locus Specific Mutation Databases (LSDB)
TMEM114

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM114 Gene

Disorders for TMEM114 Gene

UniProtKB/Swiss-Prot

TM114_HUMAN
  • Note=Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts. Translocation t(16;22) (p13.3;q11.2).

(1) University of Copenhagen DISEASES for TMEM114 Gene

genes like me logo Genes that share disorders with TMEM114: view

Publications for TMEM114 Gene

  1. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. (PMID: 17492639) Jamieson R.V. … Black G.C.M. (Hum. Mutat. 2007) 2 3 4
  2. The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. (PMID: 21689651) Maher G.J. … Manson F.D. (FEBS Lett. 2011) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type. (PMID: 22669729) Vanita V. … Singh D. (Mol. Cell. Biochem. 2012) 3
  5. The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway. (PMID: 23674605) 't Hart L.M. … Diamant M. (Diabetes 2013) 3

Products for TMEM114 Gene

Sources for TMEM114 Gene

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