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    TMEM114 transmembrane protein 114 [ Homo sapiens (human) ]

    Gene ID: 283953, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM114provided by HGNC
    Official Full Name
    transmembrane protein 114provided by HGNC
    Primary source
    HGNC:HGNC:33227
    See related
    Ensembl:ENSG00000232258 MIM:611579; AllianceGenome:HGNC:33227
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM114 in Genome Data Viewer
    Location:
    16p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (8526552..8590511, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (8559018..8623032, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8576554..8622226, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371072 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:8543873-8544434 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:8555315-8555834 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:8555835-8556353 Neighboring gene ribosomal protein S14 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:8566588-8567787 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:8602648-8603380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8733020-8733520 Neighboring gene methyltransferase 22, Kin17 lysine Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8767471-8767972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8767973-8768472 Neighboring gene RNA, 7SL, cytoplasmic 743, pseudogene Neighboring gene 4-aminobutyrate aminotransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract. Gai D, et al. Am J Med Genet A, 2014 Mar. PMID 24357539
    2. The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway. 't Hart LM, et al. Diabetes, 2013 Sep. PMID 23674605, Free PMC Article
    3. Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Mihelec M, et al. Twin Res Hum Genet, 2008 Aug. PMID 18637741
    4. 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. Jamieson RV, et al. Hum Mutat, 2007 Oct. PMID 17492639
    5. A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type. Vanita V, et al. Mol Cell Biochem, 2012 Sep. PMID 22669729

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data demonstrate that TMEM114, and the closely related TMEM235, are closely related to members of the voltage dependent calcium channel gamma subunit family.
      Title: The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.
    2. TMEM114 has a role in mammalian cataract formation
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 114

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041767.1 RefSeqGene

      Range
      4683..25694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146336.2 → NP_001139808.1  transmembrane protein 114 isoform a

      See identical proteins and their annotated locations for NP_001139808.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). The extent of the 5' terminal exon of this variant is supported by orthologous transcript alignments and data in PMID:17492639.
      Source sequence(s)
      AC074052, AC137777, FO181539
      Consensus CDS
      CCDS73825.1
      UniProtKB/Swiss-Prot
      B3SHH9
      Related
      ENSP00000484263.1, ENST00000620492.5
      Conserved Domains (1) summary
      cl21598
      Location:19 → 208
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001290095.2 → NP_001277024.1  transmembrane protein 114 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. The extent of the 5' terminal exon of this variant is supported by orthologous transcript alignments and data in PMID:17492639.
      Source sequence(s)
      AC074052, FO181539
      Consensus CDS
      CCDS76820.1
      UniProtKB/TrEMBL
      A0A096LNY9
      Related
      ENSP00000485294.1, ENST00000624696.1
      Conserved Domains (1) summary
      cl21598
      Location:19 → 162
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    3. NM_001290097.2 → NP_001277026.1  transmembrane protein 114 isoform c

      See identical proteins and their annotated locations for NP_001277026.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      BM670302, BM712244, FO181539
      Consensus CDS
      CCDS76819.1
      UniProtKB/TrEMBL
      H3BM71
      Related
      ENSP00000454261.2, ENST00000568335.3
      Conserved Domains (1) summary
      cl21598
      Location:11 → 127
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    4. NM_001290098.1 → NP_001277027.1  transmembrane protein 114 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains lacks an exon in the central coding region and also contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a. The extent of the 5' terminal exon of this variant is supported by orthologous transcript alignments and data in PMID:17492639.
      Source sequence(s)
      AI733247, BG197899, FO181539
      Conserved Domains (1) summary
      cl21598
      Location:19 → 87
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RNA

    1. NR_110736.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for non-stop mRNA decay (NSD). The extent of the 5' terminal exon of this variant is supported by orthologous transcript alignments and data in PMID:17492639.
      Source sequence(s)
      AC074052, AI350262, BG201995, FO181539

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      8526552..8590511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      8559018..8623032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B3SHH9.2 GenPept UniProtKB/Swiss-Prot:B3SHH9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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