TMEM100 transmembrane protein 100 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM100provided by HGNC
Official Full Name: transmembrane protein 100provided by HGNC
Primary source: HGNC:HGNC:25607
See related: Ensembl:ENSG00000166292 MIM:616334; AllianceGenome:HGNC:25607
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
Summary: Involved in BMP signaling pathway. Located in several cellular components, including endoplasmic reticulum; perikaryon; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in lung (RPKM 28.4), fat (RPKM 14.1) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (55719627..55732081, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (56595735..56608191, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (53796988..53809442, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of TMEM100 in mechanically insensitive nociceptor un-silencing.
Title: Role of TMEM100 in mechanically insensitive nociceptor un-silencing.
Upregulation of DRG protein TMEM100 facilitates dry-skin-induced pruritus by enhancing TRPA1 channel function.
Title: Upregulation of DRG protein TMEM100 facilitates dry-skin-induced pruritus by enhancing TRPA1 channel function.
Histone deacetylase 6-mediated downregulation of TMEM100 expedites the development and progression of non-small cell lung cancer.
Title: Histone deacetylase 6-mediated downregulation of TMEM100 expedites the development and progression of non-small cell lung cancer.
Functional expression of TRPA1 channel, TRPV1 channel and TMEM100 in human odontoblasts.
Title: Functional expression of TRPA1 channel, TRPV1 channel and TMEM100 in human odontoblasts.
TMEM100 induces cell death in nonsmall cell lung cancer via the activation of autophagy and apoptosis.
Title: TMEM100 induces cell death in non‑small cell lung cancer via the activation of autophagy and apoptosis.
TMEM100 negatively regulated by microRNA106b facilitates cellular apoptosis by suppressing survivin expression in NSCLC.
Title: TMEM100 negatively regulated by microRNA‑106b facilitates cellular apoptosis by suppressing survivin expression in NSCLC.
TMEM100 expression suppresses metastasis and enhances sensitivity to chemotherapy in gastric cancer.
Title: TMEM100 expression suppresses metastasis and enhances sensitivity to chemotherapy in gastric cancer.
TMEM100 is critical for inflammatory cytokines secretion and is regulated by MAPK (ERK/JNK) signaling pathway in hepatic stellate cells.
Title: TMEM100 mediates inflammatory cytokines secretion in hepatic stellate cells and its mechanism research.
experiments using another type of ER stress inducer demonstrated that calcium signaling was more important than ER stress in the regulation of TMEM100 expression
Title: The expression of Transmembrane Protein 100 is regulated by alterations in calcium signaling rather than endoplasmic reticulum stress.
The current findings suggest that TMEM100 functions as a tumor suppressor in hepatocellular carcinoma metastasis and proliferation.
Title: Novel roles of TMEM100: inhibition metastasis and proliferation of hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D17S1607 (e-PCR)
- UniSTS:25795

RH47271 (e-PCR)
- UniSTS:34043

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in arterial endothelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to BMP stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endothelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in regulation of sensory perception of pain	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of sensory perception of pain	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane protein 100

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)

NM_001099640.2 → NP_001093110.1 transmembrane protein 100

See identical proteins and their annotated locations for NP_001093110.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

BC010128, BQ027747, CB152959, DA579336

Consensus CDS

CCDS11587.1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87

Related

ENSP00000465638.1, ENST00000575734.5

Conserved Domains (1) summary

pfam16311
Location:2 → 131

TMEM100; Transmembrane protein 100
NM_018286.3 → NP_060756.2 transmembrane protein 100

See identical proteins and their annotated locations for NP_060756.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

BC010128, BQ027747, DA896013

Consensus CDS

CCDS11587.1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87

Related

ENSP00000395328.2, ENST00000424486.3

Conserved Domains (1) summary

pfam16311
Location:2 → 131

TMEM100; Transmembrane protein 100

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

55719627..55732081 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436342.1 → XP_047292298.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87
XM_047436341.1 → XP_047292297.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87
XM_047436343.1 → XP_047292299.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87
XM_017024815.2 → XP_016880304.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87

Conserved Domains (1) summary

pfam16311
Location:2 → 131

TMEM100; Transmembrane protein 100
XM_017024816.2 → XP_016880305.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87

Conserved Domains (1) summary

pfam16311
Location:2 → 131

TMEM100; Transmembrane protein 100

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

56595735..56608191 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316602.1 → XP_054172577.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87
XM_054316601.1 → XP_054172576.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87
XM_054316603.1 → XP_054172578.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87
XM_054316604.1 → XP_054172579.1 transmembrane protein 100 isoform X1

UniProtKB/Swiss-Prot

D3DTY7, I3L214, Q96FZ0, Q9NV29

UniProtKB/TrEMBL

B3KT87