TM9SF4 transmembrane 9 superfamily member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TM9SF4provided by HGNC
Official Full Name: transmembrane 9 superfamily member 4provided by HGNC
Primary source: HGNC:HGNC:30797
See related: Ensembl:ENSG00000101337 MIM:617727; AllianceGenome:HGNC:30797
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: dJ836N17.2
Summary: Involved in several processes, including positive regulation of protein localization; regulation of intracellular pH; and vacuolar proton-transporting V-type ATPase complex assembly. Located in Golgi apparatus and early endosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta (RPKM 20.7), brain (RPKM 16.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (32109714..32167256)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (33834368..33891894)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (30697517..30755059)

Chromosome 20 - NC_000020.11 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?

TM9SF4 is an F-actin disassembly factor that promotes tumor progression and metastasis.
Title: TM9SF4 is an F-actin disassembly factor that promotes tumor progression and metastasis.
TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease.
Title: TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease.
results uncovered a novel role of TM9SF4 proteins in alleviating endoplasmic reticulum stress and protecting chemoresistant breast cancer cells from apoptotic/necrotic cell death
Title: Knockdown of TM9SF4 boosts ER stress to trigger cell death of chemoresistant breast cancer cells.
Results show that TM9SF4 controls the sorting of TMDs at the ER-Golgi interface. Remarkably, sorting of T-R1 in HCT116 cells was different from that in HEK cells: in HCT116 cells, a substantial fraction of T-R1 was localized to the Golgi complex, and it was relocated to the ER by genetic ablation of TM9SF4.
Title: TM9SF4 levels determine sorting of transmembrane domains in the early secretory pathway.
The TM9SF4 functions to facilitate mTOR inactivation, resulting in an enhanced autophagic flux, which serves to protect cells from apoptotic cell death.
Title: TM9SF4 is a novel factor promoting autophagic flux under amino acid starvation.
TM9SF4 is a direct target of HIF-1alpha, down-regulated in leukemic cells by hypoxia and involved in cell adhesion.
Title: Human TM9SF4 Is a New Gene Down-Regulated by Hypoxia and Involved in Cell Adhesion of Leukemic Cells.
Our study shows for the first time the important role of TM9SF4 in the aberrant constitutive activation of the V-ATPase, and the development of a malignant phenotype.
Title: TM9SF4 is a novel V-ATPase-interacting protein that modulates tumor pH alterations associated with drug resistance and invasiveness of colon cancer cells.
TM9SF4 is a new marker of malignancy, representing a potential new target for anti-tumour strategies with a specific role in tumour cannibalism and in the establishment of a metastatic phenotype.
Title: The human homologue of Dictyostelium discoideum phg1A is expressed by human metastatic melanoma cells.

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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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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

D20S1026 (e-PCR)
- UniSTS:59674

D20S874 (e-PCR), detects polymorphism
- UniSTS:51766

RH64163 (e-PCR)
- UniSTS:30207

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 cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein exit from endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of intracellular pH	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in vacuolar proton-transporting V-type ATPase complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transmembrane 9 superfamily member 4

Names: dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 4; transmembrane 9 superfamily protein member 4; tumor cannibalism associated protein 1

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_001363731.2 → NP_001350660.1 transmembrane 9 superfamily member 4 isoform 2

Status: VALIDATED

Source sequence(s)

AL049539, BC021107, BM976438, D87444, DC377969

Consensus CDS

CCDS86943.1

UniProtKB/TrEMBL

A0A0C4DFM1, B4DKC1

Related

ENSP00000217315.5, ENST00000217315.9

Conserved Domains (1) summary

pfam02990
Location:38 → 582

EMP70; Endomembrane protein 70
NM_014742.4 → NP_055557.2 transmembrane 9 superfamily member 4 isoform 1 precursor

See identical proteins and their annotated locations for NP_055557.2

Status: VALIDATED

Source sequence(s)

BC021107, BM976438, D87444, DC381660

Consensus CDS

CCDS13196.2

UniProtKB/Swiss-Prot

B0QYT7, Q92544, Q9NUA3

UniProtKB/TrEMBL

A0A024QYR3, B4DKC1

Related

ENSP00000381104.2, ENST00000398022.7

Conserved Domains (1) summary

pfam02990
Location:55 → 599

EMP70; Endomembrane protein 70

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

32109714..32167256

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017028155.2 → XP_016883644.1 transmembrane 9 superfamily member 4 isoform X2

UniProtKB/TrEMBL

B4DKC1

Conserved Domains (1) summary

pfam02990
Location:38 → 554

EMP70; Endomembrane protein 70
XM_017028154.2 → XP_016883643.1 transmembrane 9 superfamily member 4 isoform X1

UniProtKB/TrEMBL

B4DKC1

Conserved Domains (1) summary

pfam02990
Location:55 → 571

EMP70; Endomembrane protein 70
XM_017028156.2 → XP_016883645.1 transmembrane 9 superfamily member 4 isoform X3

UniProtKB/TrEMBL

B4DH88, B4DKC1

Conserved Domains (1) summary

pfam02990
Location:1 → 506

EMP70; Endomembrane protein 70

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

33834368..33891894

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324291.1 → XP_054180266.1 transmembrane 9 superfamily member 4 isoform X2
XM_054324290.1 → XP_054180265.1 transmembrane 9 superfamily member 4 isoform X1
XM_054324292.1 → XP_054180267.1 transmembrane 9 superfamily member 4 isoform X3

UniProtKB/TrEMBL

B4DH88