TEF TEF transcription factor, PAR bZIP family member [Homo sapiens (human)] - Gene

Summary

Official Symbol: TEFprovided by HGNC
Official Full Name: TEF transcription factor, PAR bZIP family memberprovided by HGNC
Primary source: HGNC:HGNC:11722
See related: Ensembl:ENSG00000167074 MIM:188595; AllianceGenome:HGNC:11722
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
Summary: This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression: Ubiquitous expression in brain (RPKM 21.5), ovary (RPKM 19.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41367455..41399326)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (41846283..41878148)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41763459..41795330)

Chromosome 22 - NC_000022.11 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: 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?

Thyrotroph embryonic factor polymorphism predicts faster progression of Parkinson's disease in a longitudinal study.
Title: Thyrotroph embryonic factor polymorphism predicts faster progression of Parkinson's disease in a longitudinal study.
Evaluation of ASPM and TEF Gene Expressions as Potential Biomarkers for Bladder Cancer.
Title: Evaluation of ASPM and TEF Gene Expressions as Potential Biomarkers for Bladder Cancer.
Characterization of rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identified a novel TCF3/TEF gene fusion.
Title: Characterization of TCF3 rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identifies complex genomic rearrangements and a novel TCF3/TEF gene fusion.
TEF is downregulated in bladder cancer and correlates with poor patient survival.
Title: Thyrotroph embryonic factor is downregulated in bladder cancer and suppresses proliferation and tumorigenesis via the AKT/FOXOs signalling pathway.
Resequencing three candidate genes (HOMER1, SLC6A4, and TEF) discovers seven potentially deleterious variants susceptibility to major depressive disorder and suicide attempts in Chinese.
Title: Resequencing three candidate genes discovers seven potentially deleterious variants susceptibility to major depressive disorder and suicide attempts in Chinese.
findings show the polymorphisms of Cry1 rs2287161 and Tef rs738499 are associated to major depressive disorder in the Chinese population
Title: Cry1 and Tef gene polymorphisms are associated with major depressive disorder in the Chinese population.
The polymorphism of Tef rs738499 is associated with depression symptoms in parkinson disease.
Title: Association of Tef polymorphism with depression in Parkinson disease.
the TT genotype in Tef rs738499 is associated with sleep disturbances in Parkinson disease.
Title: Tef polymorphism is associated with sleep disturbances in patients with Parkinson's disease.
evidence of TEF regulation through a miR-125b-mediated pathway
Title: A novel pathway of TEF regulation mediated by microRNA-125b contributes to the control of actin distribution and cell shape in fibroblasts.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genotyping sleep disorders patients.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

RH93258 (e-PCR)
- UniSTS:87117

RH66783 (e-PCR)
- UniSTS:11345

D1S1423 (e-PCR)
- UniSTS:149619

WI-20437 (e-PCR)
- UniSTS:8834

RH11259 (e-PCR)
- UniSTS:91275

RH11229 (e-PCR)
- UniSTS:84621

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: thyrotroph embryonic factor

Names: TEF, PAR bZIP transcription factor; thyrotrophic embryonic factor

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_001145398.3 → NP_001138870.1 thyrotroph embryonic factor isoform 2

See identical proteins and their annotated locations for NP_001138870.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a shorter and different N-terminus, as compared to isoform 1.

Source sequence(s)

AL008582, AL035659, BX537848, DA243618, R38583

Consensus CDS

CCDS46716.1

UniProtKB/TrEMBL

B4DIH3

Related

ENSP00000385256.3, ENST00000406644.7

Conserved Domains (1) summary

cd14695
Location:202 → 260

bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain
NM_003216.4 → NP_003207.1 thyrotroph embryonic factor isoform 1

See identical proteins and their annotated locations for NP_003207.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL008582, AL035659, DA238847, R38583, U44059

Consensus CDS

CCDS14014.1

UniProtKB/Swiss-Prot

B0QYS8, B2RC22, Q10587, Q15729, Q7Z3J7, Q8IU94, Q96TG4

UniProtKB/TrEMBL

B4DIH3

Related

ENSP00000266304.4, ENST00000266304.9

Conserved Domains (1) summary

cd14695
Location:232 → 290

bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain