TFF1 trefoil factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TFF1provided by HGNC
Official Full Name: trefoil factor 1provided by HGNC
Primary source: HGNC:HGNC:11755
See related: Ensembl:ENSG00000160182 MIM:113710; AllianceGenome:HGNC:11755
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
Also known as: pS2; BCEI; HPS2; HP1.A; pNR-2; D21S21
Summary: Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward stomach (RPKM 2677.9) See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (42362282..42366535, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (40751729..40755982, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (43782391..43786644, complement)

Chromosome 21 - NC_000021.9 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?

The Transcription Factor RUNX1 Aggravates Hypoxia-Induced Human Retinal Microvascular Endothelial Cell Dysfunction by Negatively Regulating TFF1 Promoter.
Title: The Transcription Factor RUNX1 Aggravates Hypoxia-Induced Human Retinal Microvascular Endothelial Cell Dysfunction by Negatively Regulating TFF1 Promoter.
Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
Title: Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
IFNgamma-dependent silencing of TFF1 during Helicobacter pylori infection.
Title: IFNγ-dependent silencing of TFF1 during Helicobacter pylori infection.
TFF1 gene single nucleotide polymorphism (rs3761376) and colorectal cancer risk.
Title: TFF1 gene single nucleotide polymorphism (rs3761376) and colorectal cancer risk.
Association of functional genetic variants in TFF1 and nephrolithiasis risk in a Chinese population.
Title: Association of functional genetic variants in TFF1 and nephrolithiasis risk in a Chinese population.
Trefoil factor 1 inhibits the development of esophageal adenocarcinoma from Barrett's epithelium.
Title: Trefoil factor 1 inhibits the development of esophageal adenocarcinoma from Barrett's epithelium.
The trefoil factor family 1 (TFF-1) and 3 (TFF-3) are upregulated in the saliva, gingival crevicular fluid and serum of periodontitis patients.
Title: The trefoil factor family 1 (TFF-1) and 3 (TFF-3) are upregulated in the saliva, gingival crevicular fluid and serum of periodontitis patients.
Association between Promotor hypomethylation of TFF1 and Crohn's Disease.
Title: Association between Promotor hypomethylation of TFF1 and Crohn's Disease.
Circulating trefoil factors in relation to lung cancer, age and lung function: a cross-sectional study in patients referred for suspected lung cancer.
Title: Circulating trefoil factors in relation to lung cancer, age and lung function: a cross-sectional study in patients referred for suspected lung cancer.
Circ-TFF1 Facilitates Breast Cancer Development via Regulation of miR-338-3p/FGFR1 Axis.
Title: Circ-TFF1 Facilitates Breast Cancer Development via Regulation of miR-338-3p/FGFR1 Axis.

Submit: New GeneRIF Correction See all GeneRIFs (139)

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 identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. 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

GDB:185151 (e-PCR)
- UniSTS:155409

SHGC-35308 (e-PCR)
- UniSTS:26661

GDB:192309 (e-PCR)
- UniSTS:155707

PMC350567P1 (e-PCR)
- UniSTS:273241

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in maintenance of gastrointestinal epithelium	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in response to immobilization stress	IEA Inferred from Electronic Annotation more info
involved_in response to iron ion	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: trefoil factor 1

Names: breast cancer estrogen-inducible protein; breast cancer estrogen-inducible sequence; gastrointestinal trefoil protein pS2; polypeptide P1.A; protein pS2

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.