TARDBPP3 TARDBP pseudogene 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TARDBPP3provided by HGNC
Official Full Name: TARDBP pseudogene 3provided by HGNC
Primary source: HGNC:HGNC:55122
See related: AllianceGenome:HGNC:55122
Gene type: pseudo
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

Location:: 2q37.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (238231686..238234345)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (238721428..238724087)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (239140327..239142986)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

tdp-43 deposits have been associated with neujrodegenerative diseases--{review}
Title: [Parkinson disease and amyotrophic lateral sclerosis. Tauopathies, TDP-43 and SOD mutations].
several mutations of the TDP-43 gene were identified as the causative gene of autosomal-dominant familial ALS (review)
Title: [Recent progress in ALS research: ALS and TDP-43].
TDP-43-positive inclusions within neurons and oligodendroglia were found in brains from patients with Alzheimer's disease (AD) and dementia with Lewy bodies (DLB)
Title: Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies.
Motor neuron disease and frontotemporal lobar degeneration reveal identical inclusions of TDP-43.
Title: Motor neuron disease and frontotemporal lobar degeneration: a tale of two disorders linked to TDP-43.
TDP-43 is the newest member of the growing list of neurodegenerative proteinopathies, but unique in that it lacks features of brain amyloidosis.
Title: TDP-43: a novel neurodegenerative proteinopathy.
TDP-43 may not necessarily be the key disease protein in ALS and indicate that the major target(s) of ubiquitination remain to be identified.
Title: Evidence that TDP-43 is not the major ubiquitinated target within the pathological inclusions of amyotrophic lateral sclerosis.
The presence of TDP-43 inclusions in PiD suggests that TDP-43 accumulation may be an important component of many neurodegenerative diseases, and that its presence in only some cases of PiD may indicate different pathways of disease development.
Title: TAR-DNA binding protein 43 in Pick disease.
distinct TDP-43 profiles may affect clinical phenotypes differentially in patients with frontotemporal lobar degeneration with ubiquitin-positive inclusions
Title: TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions.
TDP-43 proteinopathies are distiinct from most other neurodegenerative disorders--REVIEW
Title: TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: protein misfolding diseases without amyloidosis.
These findings indicate that the histological and molecular pathology of SALS can occur as a phenotype of familial amyotrophic lateral sclerosis without SOD1 mutation.
Title: TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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General gene information

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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.