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TMEM114 transmembrane protein 114 [ Homo sapiens (human) ]

Gene ID: 283953, updated on 1-Aug-2020

Summary

Official Symbol
TMEM114provided by HGNC
Official Full Name
transmembrane protein 114provided by HGNC
Primary source
HGNC:HGNC:33227
See related
Ensembl:ENSG00000232258 MIM:611579
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

Genomic context

See TMEM114 in Genome Data Viewer
Location:
16p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (8526549..8590511, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8619502..8622226, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371072 Neighboring gene ribosomal protein S14 pseudogene Neighboring gene methyltransferase like 22 Neighboring gene RNA, 7SL, cytoplasmic 743, pseudogene Neighboring gene 4-aminobutyrate aminotransferase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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
    5356..25694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146336.1NP_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)
    AI887966, AW135815, BC150511, EF424218
    Consensus CDS
    CCDS73825.1
    UniProtKB/Swiss-Prot
    B3SHH9
    Related
    ENSP00000484263.1, ENST00000620492.4
    Conserved Domains (1) summary
    cl21598
    Location:19208
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001290095.1NP_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)
    BE670838, BM670302, FO181539
    Consensus CDS
    CCDS76820.1
    UniProtKB/TrEMBL
    A0A096LNY9
    Related
    ENSP00000485294.1, ENST00000624696.1
    Conserved Domains (1) summary
    cl21598
    Location:19162
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_001290097.2NP_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:11127
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. NM_001290098.1NP_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:1987
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RNA

  1. NR_110736.1 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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    8526549..8590511 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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