TPD52L2 TPD52 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPD52L2provided by HGNC
Official Full Name: TPD52 like 2provided by HGNC
Primary source: HGNC:HGNC:12007
See related: Ensembl:ENSG00000101150 MIM:603747; AllianceGenome:HGNC:12007
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: D54; TPD54
Summary: This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in esophagus (RPKM 35.6), bone marrow (RPKM 34.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63865270..63891538)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65685113..65711383)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62496623..62522891)

Chromosome 20 - NC_000020.11 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?

Investigation of Transcript Variant 6 of TPD52L2 as a Prognostic and Predictive Biomarker in Basal-Like MDA-MB-231 and MDA-MB-453 Cell Lines for Breast Cancer.
Title: Investigation of Transcript Variant 6 of TPD52L2 as a Prognostic and Predictive Biomarker in Basal-Like MDA-MB-231 and MDA-MB-453 Cell Lines for Breast Cancer.
Intracellular wetting mediates contacts between liquid compartments and membrane-bound organelles.
Title: Intracellular wetting mediates contacts between liquid compartments and membrane-bound organelles.
TPD52L2 is an important biomarker influencing glioblastoma prognosis
Title: TPD52L2 impacts proliferation, invasiveness and apoptosis of glioblastoma cells via modulation of wnt/β-catenin/snail signaling.
these results suggest a critical role of miR-217 in suppressing proliferation, migration and invasion of pancreatic adenocarcinoma (HPAC)cell by targeting Tpd52l2. Targeting the miR-217/Tpd52l2 axis may be a new therapeutic application with which to treat patients with HPAC in the future.
Title: MicroRNA-217 inhibits cell proliferation, invasion and migration by targeting Tpd52l2 in human pancreatic adenocarcinoma.
the important roles of TPD52 and TPD54, which work oppositely, in the terminal differentiation of chondrocytes during endochondral ossification.
Title: Tumor Proteins D52 and D54 Have Opposite Effects on the Terminal Differentiation of Chondrocytes.
tpd54 overexpression in SAS cells significantly decreased colony formation in an anchorage-independent manner. Additionally, knock-down of tpd54 enhanced the number of colonies formed and overexpression of tpd52 in tpd54 knock-down cells increased the size of the colonies formed. The chemotaxis assay showed that tpd54 overexpression decreased cell migration
Title: Opposite effects of tumor protein D (TPD) 52 and TPD54 on oral squamous cell carcinoma cells.
TPD54 may serve as a novel biomarker for oral squamous cell carcinoma.
Title: Tumor protein D54 is a negative regulator of extracellular matrix-dependent migration and attachment in oral squamous cell carcinoma-derived cell lines.
hABCF3 positively regulates cell proliferation, at least partially through the interaction with a tumor protein D52 protein family member: TPD52L2.
Title: hABCF3, a TPD52L2 interacting partner, enhances the proliferation of human liver cancer cell lines in vitro.
The results indicate that tumor protein D52-like 2 genes are not ubiquitously expressed in leukemic bone marrow in children, and that RNA sample parameters may influence measures of gene expression more than commonly appreciated.
Title: Expression of tumor protein D52-like genes in childhood leukemia at diagnosis: clinical and sample considerations.

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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
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 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

ha2919 (e-PCR)
- UniSTS:515610

RH74935 (e-PCR)
- UniSTS:92997

RH91387 (e-PCR)
- UniSTS:84417

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed

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

General protein information

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Preferred Names: tumor protein D54

Names: HCCR-binding protein 2; tumor protein D52 like 2

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.

Genomic

NG_029863.1 RefSeqGene

Range

5043..31311

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001243891.2 → NP_001230820.1 tumor protein D54 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses an alternate splice site and lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (g) is shorter than isoform a.

Source sequence(s)

AL118506, DA871584, DC428780

UniProtKB/TrEMBL

Q53GA0

Conserved Domains (1) summary

pfam04201
Location:29 → 172

TPD52; Tumour protein D52 family
NM_001243892.2 → NP_001230821.1 tumor protein D54 isoform h

See identical proteins and their annotated locations for NP_001230821.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) uses an alternate splice site and lacks three exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (h) is shorter than isoform a.

Source sequence(s)

AL118506, DC362382

Consensus CDS

CCDS58785.1

UniProtKB/TrEMBL

B4DDV4

Related

ENSP00000358943.2, ENST00000369927.8

Conserved Domains (1) summary

pfam04201
Location:32 → 154

TPD52; Tumour protein D52 family
NM_001243894.2 → NP_001230823.1 tumor protein D54 isoform i

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks four consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (i) is shorter than isoform a.

Source sequence(s)

AL118506, DA689198, DA871584

Consensus CDS

CCDS74753.1

UniProtKB/TrEMBL

A0A087WZ51

Related

ENSP00000482370.1, ENST00000611972.4

Conserved Domains (1) summary

pfam04201
Location:55 → 143

TPD52; Tumour protein D52 family
NM_001243895.2 → NP_001230824.1 tumor protein D54 isoform j

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks three consecutive exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (j) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AL118506, DA547106, DA871584

Consensus CDS

CCDS74752.1

UniProtKB/TrEMBL

A0A087WYR3

Related

ENSP00000482024.1, ENST00000615907.4

Conserved Domains (1) summary

pfam04201
Location:55 → 158

TPD52; Tumour protein D52 family
NM_003288.4 → NP_003279.2 tumor protein D54 isoform e

See identical proteins and their annotated locations for NP_003279.2

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a.

Source sequence(s)

AL118506, BC006804, DA871584

Consensus CDS

CCDS13540.1

UniProtKB/Swiss-Prot

B4DPJ6, E1P5G7, O43398, O43399, Q5JWU5, Q5JWU6, Q5JWU8, Q5U0E0, Q9H3Z6

UniProtKB/TrEMBL

Q53GA0, Q6FGS1

Related

ENSP00000343547.4, ENST00000346249.9

Conserved Domains (1) summary

pfam04201
Location:55 → 197

TPD52; tumor protein D52 family
NM_199359.3 → NP_955391.1 tumor protein D54 isoform f

See identical proteins and their annotated locations for NP_955391.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks three exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (f) is shorter than isoform a.

Source sequence(s)

AK297064, AL118506, DA871584

Consensus CDS

CCDS13541.1

UniProtKB/TrEMBL

Q53GA0, Q68E05

Related

ENSP00000343554.5, ENST00000348257.9

Conserved Domains (1) summary

pfam04201
Location:55 → 177

TPD52; Tumour protein D52 family
NM_199360.3 → NP_955392.1 tumor protein D54 isoform a

See identical proteins and their annotated locations for NP_955392.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AL118506, BI667351, DA871584

Consensus CDS

CCDS13542.1

UniProtKB/TrEMBL

Q53GA0

Related

ENSP00000217121.5, ENST00000217121.9

Conserved Domains (1) summary

pfam04201
Location:55 → 220

TPD52; Tumour protein D52 family
NM_199361.3 → NP_955393.1 tumor protein D54 isoform b

See identical proteins and their annotated locations for NP_955393.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AL118506, BP347669, DA871584

Consensus CDS

CCDS13543.1

UniProtKB/TrEMBL

Q53GA0

Related

ENSP00000340006.4, ENST00000351424.8

Conserved Domains (1) summary

pfam04201
Location:55 → 200

TPD52; Tumour protein D52 family
NM_199362.3 → NP_955394.1 tumor protein D54 isoform c

See identical proteins and their annotated locations for NP_955394.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AL118506, BT019631, DA871584

Consensus CDS

CCDS13544.1

UniProtKB/TrEMBL

Q53GA0

Related

ENSP00000344647.4, ENST00000352482.8

Conserved Domains (1) summary

pfam04201
Location:55 → 211

TPD52; Tumour protein D52 family
NM_199363.3 → NP_955395.1 tumor protein D54 isoform d

See identical proteins and their annotated locations for NP_955395.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AK055068, AL118506

Consensus CDS

CCDS13545.1

UniProtKB/TrEMBL

Q53GA0

Related

ENSP00000351350.4, ENST00000358548.4

Conserved Domains (1) summary

pfam04201
Location:55 → 191

TPD52; Tumour protein D52 family

RNA

NR_045090.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (11) uses an alternate splice site and lacks two consecutive exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL118506, BQ948007, DA871584