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Aliases for TMEM114 Gene

Aliases for TMEM114 Gene

  • Transmembrane Protein 114 2 3 5

External Ids for TMEM114 Gene

Previous GeneCards Identifiers for TMEM114 Gene

  • GC16U900672
  • GC16M008560
  • GC16M008620

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. Diseases associated with TMEM114 include Cataract. An important paralog of this gene is TMEM235.

Additional gene information for TMEM114 Gene

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

Genomics for TMEM114 Gene

GeneHancer (GH) Regulatory Elements for TMEM114 Gene

Promoters and enhancers for TMEM114 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
GH16I008631 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -42.6 -42567 2 CTCF TCF12 CREB1 FOS HOMEZ GABPA C16orf72 METTL22 TMEM114 USP7 GC16M008655
GH16I008635 Enhancer 0.9 ENCODE dbSUPER 11 -45.3 -45346 0.2 ELF3 CTCF ATF1 RB1 BACH1 CEBPG ZNF2 RAD21 ZNF316 ZNF143 TMEM114 METTL22 GC16M008655
GH16I008537 Enhancer 0.8 ENCODE 11.3 +52.4 52418 1.3 ELF3 FOXA2 RARA YY1 CREM MIXL1 RXRA REST NFIL3 SSRP1 TMEM114 ENSG00000261066 GC16P008558
GH16I008698 Enhancer 0.6 ENCODE 10.4 -107.9 -107916 0.1 SOX5 SOX13 GATAD2A SAP130 ZNF384 CEBPG RAD21 ZGPAT RCOR2 HNF4A GC16M008686 TMEM114 GC16M008705 ABAT
GH16I008536 Enhancer 0.3 ENCODE 10.8 +53.3 53319 0.2 RCOR2 TMEM114 METTL22 ENSG00000261066 GC16P008558
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM114 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM114 gene promoter:

Genomic Locations for TMEM114 Gene

Genomic Locations for TMEM114 Gene
chr16:8,526,549-8,590,193
(GRCh38/hg38)
Size:
63,645 bases
Orientation:
Minus strand
chr16:8,619,502-8,622,304
(GRCh37/hg19)

Genomic View for TMEM114 Gene

Genes around TMEM114 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM114 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM114 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    Protein attributes for TMEM114 Gene

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

neXtProt entry for TMEM114 Gene

Post-translational modifications for TMEM114 Gene

  • Glycosylation at isoforms=55 and isoforms=89

Other Protein References for TMEM114 Gene

No data available for DME Specific Peptides for TMEM114 Gene

Domains & Families for TMEM114 Gene

Gene Families for TMEM114 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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

Function for TMEM114 Gene

Phenotypes for TMEM114 Gene

MGI mutant phenotypes for TMEM114:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with TMEM114: view

Animal Models for TMEM114 Gene

MGI Knock Outs for TMEM114:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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
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 TMEM114 gene
Compartment Confidence
plasma membrane 4
extracellular 2

Gene Ontology (GO) - Cellular Components for TMEM114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM114 Gene

Pathways & Interactions 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 and SIGNOR curated interactions for TMEM114 Gene

Drugs & Compounds for TMEM114 Gene

No Compound Related Data Available

Transcripts for TMEM114 Gene

Unigene Clusters for TMEM114 Gene

Transmembrane protein 114:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x29.5) and Pituitary (x6.2).

NURSA nuclear receptor signaling pathways regulating expression of TMEM114 Gene:

TMEM114

SOURCE GeneReport for Unigene cluster for TMEM114 Gene:

Hs.150849

Evidence on tissue expression from TISSUES for TMEM114 Gene

  • Eye(4.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with TMEM114: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia TMEM114 33 34
  • 90.98 (n)
cow
(Bos Taurus)
Mammalia TMEM114 33 34
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Tmem114 33
  • 82.28 (n)
mouse
(Mus musculus)
Mammalia Cldn26 33 34
  • 81.98 (n)
Tmem114 16
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM114 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM114 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM114 33 34
  • 67.3 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM114 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem114 33
  • 62.5 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100150208 33
  • 59.89 (n)
TMEM114 34
  • 33 (a)
OneToOne
Species where no ortholog for TMEM114 was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs1000006730 -- 8,547,523(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000058528 -- 8,549,275(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000157724 -- 8,550,573(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000234139 -- 8,581,143(-) A/G intron_variant
rs1000239569 -- 8,536,438(-) T/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv329e201 CNV deletion 23290073
dgv340n27 CNV gain 19166990
dgv4901n54 CNV gain 21841781
dgv790e212 CNV loss 25503493
esv1544132 CNV deletion 17803354
esv1941984 CNV deletion 18987734
esv22976 CNV gain 19812545
esv25283 CNV loss 19812545
esv2713927 CNV deletion 23290073
esv2713928 CNV deletion 23290073
esv2713929 CNV deletion 23290073
esv2713931 CNV deletion 23290073
esv2713932 CNV deletion 23290073
esv2713933 CNV deletion 23290073
esv2713934 CNV deletion 23290073
esv2713936 CNV deletion 23290073
esv2713938 CNV deletion 23290073
esv2713939 CNV deletion 23290073
esv2743197 CNV deletion 23290073
esv2762132 CNV loss 21179565
esv3582002 CNV loss 25503493
esv3637835 CNV loss 21293372
esv3637836 CNV gain 21293372
esv3892785 CNV loss 25118596
nsv1047172 CNV gain 25217958
nsv1054779 CNV gain 25217958
nsv1070742 CNV deletion 25765185
nsv1076418 CNV duplication 25765185
nsv1110263 CNV duplication 24896259
nsv1115903 CNV deletion 24896259
nsv1116112 CNV deletion 24896259
nsv1116113 CNV deletion 24896259
nsv1133222 CNV tandem duplication 24896259
nsv1138411 CNV deletion 24896259
nsv1148227 CNV duplication 26484159
nsv1149179 CNV deletion 26484159
nsv476382 CNV novel sequence insertion 20440878
nsv518113 CNV gain 19592680
nsv958197 CNV deletion 24416366

Additional Variant Information for TMEM114 Gene

Human Gene Mutation Database (HGMD)
TMEM114
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM114

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

Disorders for TMEM114 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM114 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cataract
  • cataracts
- elite association - COSMIC cancer census association via MalaCards

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). {ECO:0000269 PubMed:17492639}.

Additional Disease Information for TMEM114

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

No data available for Genatlas for TMEM114 Gene

Publications for TMEM114 Gene

  1. The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. (PMID: 21689651) Maher GJ … Manson FD (FEBS letters 2011) 2 3 4 58
  2. 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 RV … Black GC (Human mutation 2007) 2 3 4 58
  3. 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 58
  4. Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract. (PMID: 24357539) Gai D … Yu S (American journal of medical genetics. Part A 2014) 3 58
  5. The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway. (PMID: 23674605) 't Hart LM … Diamant M (Diabetes 2013) 3 58

Products for TMEM114 Gene

Sources for TMEM114 Gene

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