TSPYL2 TSPY like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPYL2provided by HGNC
Official Full Name: TSPY like 2provided by HGNC
Primary source: HGNC:HGNC:24358
See related: Ensembl:ENSG00000184205 MIM:300564; AllianceGenome:HGNC:24358
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: CDA1; CTCL; NP79; TSPX; CINAP; DENTT; SE204; HRIHFB2216
Summary: This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009]
Expression: Broad expression in ovary (RPKM 45.2), testis (RPKM 42.8) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: Xp11.22

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (53082367..53088540)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (52368603..52374776)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (53111549..53117722)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRL2[APPBP2]-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence.
Title: CRL2(APPBP2)-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence.
A tumor-suppressing role of TSPYL2 in thyroid cancer: Through interacting with SIRT1 and repressing SIRT1/AKT pathway.
Title: A tumor-suppressing role of TSPYL2 in thyroid cancer: Through interacting with SIRT1 and repressing SIRT1/AKT pathway.
Sex specific regulation of TSPY-Like 2 in the DNA damage response of cancer cells.
Title: Sex specific regulation of TSPY-Like 2 in the DNA damage response of cancer cells.
TSPYL2 reduced gefitinib resistance and DNA damage repair via suppressing SIRT1-mediated FOXO3 deacetylation.
Title: TSPYL2 reduced gefitinib resistance and DNA damage repair via suppressing SIRT1-mediated FOXO3 deacetylation.
hCINAP serves a critical role in hypoxiainduced cardiomyocyte apoptosis via modulating lactate production and mitochondrialmediated apoptosis signaling.
Title: hCINAP serves a critical role in hypoxia‑induced cardiomyocyte apoptosis via modulating lactate production and mitochondrial‑mediated apoptosis signaling.
Here we identify the nucleosome assembly protein TSPY-Like 2 (TSPYL2, also known as TSPX, DENTT, and CDA1) as a novel regulator of SIRT1 and p300 function. We demonstrate that, upon DNA damage, TSPYL2 inhibits SIRT1, disrupting its association with target proteins, and promotes p300 acetylation and activation, finally stimulating p53 acetylation and p53-dependent cell death.
Title: TSPYL2 is a novel regulator of SIRT1 and p300 activity in response to DNA damage.
Genome-wide polysome profiling shows that hCINAP selectively modulates cancer-associated translatome to promote malignancy.
Title: The ATPase hCINAP regulates 18S rRNA processing and is essential for embryogenesis and tumour growth.
Aortic CDA1 expression was downregulated approximately 70% within biopsies from human abdominal aortic aneurysms.
Title: Diabetes Reduces Severity of Aortic Aneurysms Depending on the Presence of Cell Division Autoantigen 1 (CDA1).
TSPY and TSPX exert opposing effects on the transactivation functions of AR and AR-Vs important for various physiological and disease processes sensitive to male sex hormone actions, thereby not only affecting the pathogenesis of male-specific prostate cancer but also likely contributing to sex differences in the health and diseases of man.
Title: The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.
the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2, is reported.
Title: Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

DXS1008E (e-PCR)
- UniSTS:99636

DXS7563 (e-PCR)
- UniSTS:153986

RH99258 (e-PCR)
- UniSTS:86666

SE20-4_1202 (e-PCR)
- UniSTS:277692

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables rDNA binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleosome assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: testis-specific Y-encoded-like protein 2

Names: CASK-interacting nucleosome assembly protein; CTCL tumor antigen se20-4; CTCL-associated antigen se20-4; TSPY-like protein 2; cell division autoantigen 1; cutaneous T-cell lymphoma-associated antigen se20-4; cutaneous T-cell lymphoma-associated tumor antigen se20-4; differentially expressed nucleolar TGF-beta1 target; differentially-expressed nucleolar TGF-beta1 target protein; nuclear protein of 79 kDa; testis-specific protein Y encoded-like 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_013267.1 RefSeqGene

Range

5008..11181

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022117.4 → NP_071400.1 testis-specific Y-encoded-like protein 2

See identical proteins and their annotated locations for NP_071400.1

Status: REVIEWED

Source sequence(s)

BC024270, DA076199

Consensus CDS

CCDS14350.1

UniProtKB/Swiss-Prot

O94799, Q96DG7, Q9BZW6, Q9H2G4

UniProtKB/TrEMBL

A8K8U7

Related

ENSP00000364591.4, ENST00000375442.8

Conserved Domains (2) summary

pfam06957
Location:543 → 604

COPI_C; Coatomer (COPI) alpha subunit C-terminus

cl08298
Location:227 → 396

NAP; Nucleosome assembly protein (NAP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

53082367..53088540

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029727.2 → XP_016885216.1 testis-specific Y-encoded-like protein 2 isoform X2

UniProtKB/TrEMBL

A8K8U7
XM_017029726.2 → XP_016885215.1 testis-specific Y-encoded-like protein 2 isoform X1

UniProtKB/TrEMBL

A8K8U7

Conserved Domains (2) summary

NF000535
Location:486 → 660

MSCRAMM_SdrC; MSCRAMM family adhesin SdrC

cl08298
Location:227 → 440

NAP; Nucleosome assembly protein (NAP)
XM_006724592.5 → XP_006724655.1 testis-specific Y-encoded-like protein 2 isoform X3

UniProtKB/TrEMBL

A8K8U7

Conserved Domains (2) summary

pfam06957
Location:543 → 604

COPI_C; Coatomer (COPI) alpha subunit C-terminus

cl08298
Location:227 → 396

NAP; Nucleosome assembly protein (NAP)
XM_047442353.1 → XP_047298309.1 testis-specific Y-encoded-like protein 2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

52368603..52374776

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327567.1 → XP_054183542.1 testis-specific Y-encoded-like protein 2 isoform X2
XM_054327566.1 → XP_054183541.1 testis-specific Y-encoded-like protein 2 isoform X1
XM_054327568.1 → XP_054183543.1 testis-specific Y-encoded-like protein 2 isoform X3
XM_054327569.1 → XP_054183544.1 testis-specific Y-encoded-like protein 2 isoform X4