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TMEM114 transmembrane protein 114 [ Homo sapiens (human) ]

Gene ID: 283953, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (8526552..8590511, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (8559018..8623032, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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