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TMEM14A transmembrane protein 14A [ Homo sapiens (human) ]

Gene ID: 28978, updated on 27-Nov-2024

Summary

Official Symbol
TMEM14Aprovided by HGNC
Official Full Name
transmembrane protein 14Aprovided by HGNC
Primary source
HGNC:HGNC:21076
See related
Ensembl:ENSG00000096092 MIM:616870; AllianceGenome:HGNC:21076
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTD011; C6orf73
Summary
Involved in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 28.6), adrenal (RPKM 23.3) and 25 other tissues See more
Orthologs
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Genomic context

See TMEM14A in Genome Data Viewer
Location:
6p12.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (52671113..52686588)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (52509853..52525372)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (52535911..52551386)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SH3 domain binding glutamate rich protein like 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24687 Neighboring gene Sharpr-MPRA regulatory region 5928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24688 Neighboring gene uncharacterized LOC730101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:52535127-52535627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24689 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:52540056-52540616 Neighboring gene SREK1IP1 pseudogene 2 Neighboring gene glutathione S-transferase alpha 8, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:52577613-52578812 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:52587241-52587355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17286 Neighboring gene glutathione S-transferase alpha 7, pseudogene

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

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.

mRNA and Protein(s)

  1. NM_014051.4NP_054770.1  transmembrane protein 14A

    See identical proteins and their annotated locations for NP_054770.1

    Status: VALIDATED

    Source sequence(s)
    AF239771, BC019328, CB117714
    Consensus CDS
    CCDS4943.1
    UniProtKB/Swiss-Prot
    B2R552, Q9Y6G1
    Related
    ENSP00000211314.4, ENST00000211314.5
    Conserved Domains (1) summary
    pfam03647
    Location:487
    Tmemb_14; Transmembrane proteins 14C

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    52671113..52686588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    52509853..52525372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)