TMEM109 transmembrane protein 109 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM109provided by HGNC
Official Full Name: transmembrane protein 109provided by HGNC
Primary source: HGNC:HGNC:28771
See related: Ensembl:ENSG00000110108 MIM:619168; AllianceGenome:HGNC:28771
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: SND3; hSND3
Summary: Predicted to enable voltage-gated monoatomic cation channel activity. Acts upstream of or within cellular response to gamma radiation and negative regulation of programmed cell death. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 44.7), lung (RPKM 42.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (60914158..60923443)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (60865308..60874594)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (60681630..60690915)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MG23 plays a protective role against UVC by accumulating alphaBC in the close vicinity of the ER
Title: Protective role of the endoplasmic reticulum protein mitsugumin23 against ultraviolet C-induced cell death.
MG23 is an essential component of ER-generated lethal signals provoked upon DNA damage, specifying cell fate under pathophysiological conditions.
Title: Facilitation of DNA damage-induced apoptosis by endoplasmic reticulum protein mitsugumin23.

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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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Markers

RH11560 (e-PCR)
- UniSTS:77845

WI-12296 (e-PCR)
- UniSTS:309

D11S2248E (e-PCR)
- UniSTS:25399

D11S2290E (e-PCR)
- UniSTS:13487

RH121096 (e-PCR)
- UniSTS:134091

G30169 (e-PCR)
- UniSTS:16611

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic cation channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to gamma radiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in nuclear outer membrane	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: voltage-gated monoatomic cation channel TMEM109

Names: SRP-independent targeting 3 homolog; mg23; mitsugumin-23

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.