TMEM114 Gene (Protein Coding)

Transmembrane Protein 114

GC16M008537
GIFtS:
28
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] See more...

Aliases for TMEM114 Gene

Aliases for TMEM114 Gene

  • Transmembrane Protein 114 2 3 4 5
  • TMEM114 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 Galactosemia Ii and Cataract 6, Multiple Types. An important paralog of this gene is TMEM235.

Additional gene information for TMEM114 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM114 Gene

Genomics for TMEM114 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH16J008589 Enhancer 0.2 Ensembl 250.7 +0.3 334 1 TMEM114 HSALNG0109400
GH16J008591 Enhancer 0.2 Ensembl 250.7 +1.2 1210 0.2 TMEM114 HSALNG0109400
GH16J008631 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -42.2 -42249 2 HOMEZ GABPA RBM22 JUND SPI1 TCF12 FOS CREB1 CTCF C16orf72 METTL22 TMEM114 USP7 HSALNG0109409 lnc-ABAT-8 ABAT
GH16J008655 Enhancer 1 Ensembl ENCODE 11.7 -64.9 -64890 0.8 BCL11A CTCF IRF4 SAP130 EBF1 RAD21 RARA SMC3 CBFB SPI1 TMEM114 RNU7-63P HSALNG0109413 piR-38352-211 ABAT METTL22
GH16J008635 Enhancer 0.9 ENCODE dbSUPER 11 -45.0 -45028 0.2 CTCF HOMEZ REST ZNF316 RAD21 NFE2 ZNF2 MLLT1 MAFG ZNF384 HSALNG0109409 TMEM114 HSALNG0109411 METTL22 ABAT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM114 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM114

Top Transcription factor binding sites by QIAGEN in the TMEM114 gene promoter:
  • CREB
  • deltaCREB
  • E47
  • ER-alpha
  • GATA-1
  • LyF-1
  • RFX1
  • RREB-1
  • YY1
  • Zic1

Genomic Locations for TMEM114 Gene

Latest Assembly
chr16:8,526,552-8,590,511
(GRCh38/hg38)
Size:
63,960 bases
Orientation:
Minus strand

Previous Assembly
chr16:8,576,554-8,622,224
(GRCh37/hg19 by Entrez Gene)
Size:
45,671 bases
Orientation:
Minus strand

chr16:8,619,502-8,622,304
(GRCh37/hg19 by Ensembl)
Size:
2,803 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for TMEM114 Gene

Proteins for TMEM114 Gene

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  • 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 Asn55 and Asn89
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM114 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
  • Transmembrane protein 114 (TM114_HUMAN)

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

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  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for TMEM114 Gene

Gene Ontology (GO) - Molecular Function for TMEM114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with TMEM114: view

Phenotypes for TMEM114 Gene

MGI mutant phenotypes for TMEM114:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with TMEM114: view

Animal Models for TMEM114 Gene

MGI Knock Outs for TMEM114:

Animal Models for research

  • Taconic Biosciences Mouse Models for TMEM114

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM114

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 1
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TMEM114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA,IBA 21873635
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

PathCards logo

SuperPathways for TMEM114 Gene

No Data Available

Interacting Proteins for TMEM114 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: B3SHH9-TM114_HUMAN ENSP00000484263 for TMEM114 Gene via UniProtKB STRING

GPS-Prot Interaction Network for TMEM114

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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TMEM114 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for TMEM114 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM114

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

No ASD Table

Relevant External Links for TMEM114 Gene

GeneLoc Exon Structure for
TMEM114

Expression for TMEM114 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM114 Gene

mRNA expression in normal human tissues for TMEM114 Gene
mRNA expression by BioGPS for TMEM114 GenemRNA expression by GTEx 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM114

SOURCE GeneReport for Unigene cluster for TMEM114 Gene:

Hs.150849

Evidence on tissue expression from TISSUES for TMEM114 Gene

  • Eye(4.3)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with TMEM114: view

Primer products for research

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 30 31
  • 99.11 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TMEM114 30 31
  • 90.98 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TMEM114 30 31
  • 89.24 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tmem114 30
  • 82.28 (n)
Mouse
(Mus musculus)
 Mammalia Cldn26 30 31
  • 81.98 (n)
 OneToOne
Tmem114 17
Platypus
(Ornithorhynchus anatinus)
 Mammalia TMEM114 31
  • 57 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TMEM114 31
  • 46 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TMEM114 30 31
  • 67.3 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TMEM114 31
  • 36 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tmem114 30
  • 62.5 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100150208 30
  • 59.89 (n)
TMEM114 31
  • 33 (a)
 OneToOne
Species where no ortholog for TMEM114 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM114: view image

Paralogs for TMEM114 Gene

Paralogs for TMEM114 Gene

(1) SIMAP similar genes for TMEM114 Gene using alignment to 2 proteins:

  • TM114_HUMAN
  • H3BM71_HUMAN
genes like me logo Genes that share paralogs with TMEM114: view

Variants for TMEM114 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM114 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs1048548807 - p.Ile35Thr
rs141472774 - p.Ala147Val
VAR_058709 - p.Phe206Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM114 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

(8) MalaCards diseases for TMEM114 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
galactosemia ii
  • galac2
cataract 6, multiple types
  • ctrct6
cataract 32, multiple types
  • ctrct32
cataract
  • cataracts
cataract 16, multiple types
  • ctrct16
- 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

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. 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

ExternalLinks

View latest publications for TMEM114 gene in Mastermind

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