TP53TG5

Summary

TP53TG5 (TP53 target 5, HGNC:15856) is a protein-coding gene on chromosome 20q13.12, encoding TP53-target gene 5 protein (Q9Y2B4). May play a significant role in p53/TP53-mediating signaling pathway.

Predicted to be involved in intracellular signal transduction and negative regulation of cell growth. Located in chromosome and nucleolus.

Source: NCBI Gene 27296 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_014477

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15856
Approved symbol	TP53TG5
Name	TP53 target 5
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	CLG01, dJ453C12.5
Ensembl gene	ENSG00000124251
Ensembl biotype	protein_coding
OMIM	617316
Entrez	27296

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000372726, ENST00000468375, ENST00000488588, ENST00000494455

RefSeq mRNA: 1 — MANE Select: NM_014477 NM_014477

CCDS: CCDS13352

Canonical transcript exons

ENST00000372726 — 5 exons

Exon	Start	End
ENSE00000844981	45375039	45375552
ENSE00001458465	45372557	45374011
ENSE00003476723	45378189	45378325
ENSE00003592119	45377212	45377342
ENSE00003663784	45377539	45377613

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 92.63.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.3299 / max 379.9191, expressed in 129 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187442	1.9771	123
187444	0.1982	58
187443	0.0687	30
187438	0.0637	10
209138	0.0146	9
187439	0.0075	3

Top tissues by expression

272 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	92.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.59	silver quality
spinal cord	UBERON:0002240	90.47	gold quality
sperm	CL:0000019	89.92	gold quality
male germ cell	CL:0000015	89.91	gold quality
triceps brachii	UBERON:0001509	85.59	gold quality
type B pancreatic cell	CL:0000169	84.77	gold quality
olfactory bulb	UBERON:0002264	84.38	gold quality
substantia nigra	UBERON:0002038	84.08	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	83.86	gold quality
putamen	UBERON:0001874	83.16	gold quality
midbrain	UBERON:0001891	83.00	gold quality
amygdala	UBERON:0001876	82.64	gold quality
gluteal muscle	UBERON:0002000	81.97	gold quality
corpus callosum	UBERON:0002336	81.91	gold quality
nasal cavity epithelium	UBERON:0005384	81.81	gold quality
left testis	UBERON:0004533	81.27	gold quality
tongue squamous epithelium	UBERON:0006919	81.26	gold quality
Ammon’s horn	UBERON:0001954	81.14	gold quality
right testis	UBERON:0004534	80.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.46	gold quality
cervix squamous epithelium	UBERON:0006922	79.87	gold quality
right frontal lobe	UBERON:0002810	79.82	gold quality
testis	UBERON:0000473	79.54	gold quality
caudate nucleus	UBERON:0001873	79.22	gold quality
cerebellar vermis	UBERON:0004720	79.14	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	79.00	gold quality
parotid gland	UBERON:0001831	78.83	gold quality
vena cava	UBERON:0004087	78.80	silver quality
tendon of biceps brachii	UBERON:0008188	78.65	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.75

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Trp53tg5	ENSMUSG00000017720
rattus_norvegicus	Tp53tg5	ENSRNOG00000026215

Protein

Protein identifiers

TP53-target gene 5 protein — Q9Y2B4 (reviewed: Q9Y2B4)

Alternative names: TP53-inducible gene 5 protein

All UniProt accessions (1): Q9Y2B4

UniProt curated annotations — full annotation on UniProt →

Function. May play a significant role in p53/TP53-mediating signaling pathway.

Subunit / interactions. Interacts with p53/TP53.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Highly expressed in heart, brain and small intestine. Less abundant in skeletal muscle, spleen, prostate, ovary and colon. A smaller transcript is expressed specifically in the testis.

Induction. By p53/TP53, UV irradiation, by hydrogen peroxide treatment or by treatment with a DNA-damaging reagent.

RefSeq proteins (1): NP_055292* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029290	TP53TG5	Family

Pfam: PF15331

UniProt features (14 total): sequence variant 7, compositionally biased region 4, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2B4-F1	50.72	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 48 (showing top): GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_GROWTH, BLALOCK_ALZHEIMERS_DISEASE_UP, ATF3_Q6, GOBP_CELL_GROWTH, SHEN_SMARCA2_TARGETS_DN, GOBP_REGULATION_OF_GROWTH, GOCC_NUCLEOLUS, NIKOLSKY_BREAST_CANCER_20Q12_Q13_AMPLICON, MARTENS_TRETINOIN_RESPONSE_UP, BRCA1_DN.V1_UP, PDGF_UP.V1_DN, RBM34_TARGET_GENES, ZNF2_TARGET_GENES, ZNF423_TARGET_GENES

GO Biological Process (2): negative regulation of cell growth (GO:0030308), intracellular signal transduction (GO:0035556)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), chromosome (GO:0005694), nucleolus (GO:0005730), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	2
intracellular membraneless organelle	2
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
negative regulation of cellular process	1
signal transduction	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

276 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TP53TG5	SYS1	Q8N2H4	511
TP53TG5	TP53I11	O14683	492
TP53TG5	C16orf90	A8MZG2	447
TP53TG5	WFDC6	Q9BQY6	446
TP53TG5	AEBP1	Q8IUX7	434
TP53TG5	TP53I13	Q8NBR0	433
TP53TG5	MADD	Q8WXG6	429
TP53TG5	TP53RK	Q96S44	414
TP53TG5	LONRF1	Q17RB8	410
TP53TG5	SPINT4	Q6UDR6	399
TP53TG5	DTNBP1	Q96EV8	393
TP53TG5	FHIP2A	Q5W0V3	370
TP53TG5	PROCA1	Q8NCQ7	354
TP53TG5	TP53TG3	Q9ULZ0	352
TP53TG5	SYDE2	Q5VT97	348

IntAct

10 interactions, top by confidence:

A	B	Type	Score
TP53TG5	GRN	psi-mi:“MI:0915”(physical association)	0.560
TP53TG5	NEFL	psi-mi:“MI:0915”(physical association)	0.560
TP53TG5	FNTB	psi-mi:“MI:0914”(association)	0.530
TP53TG5	FNTA	psi-mi:“MI:0914”(association)	0.350
TP53TG5	HSP90AA4P	psi-mi:“MI:0914”(association)	0.350
TP53TG5	HAL	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): TP53TG5 (Reconstituted Complex), FNTB (Affinity Capture-MS), FAM192A (Affinity Capture-MS), PSME3 (Affinity Capture-MS), VPRBP (Affinity Capture-MS), TP53TG5 (Positive Genetic), FAM192A (Affinity Capture-MS), PSME3 (Affinity Capture-MS), FNTA (Affinity Capture-MS), FNTB (Affinity Capture-MS), VPRBP (Affinity Capture-MS), HSP90AA4P (Affinity Capture-MS), TP53TG5 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)

ESM2 similar proteins: A0A182BSS5, A0A6G7KUU3, A2RUT3, A4IFR0, A6NJ64, O55779, P03124, P03331, P03424, P0C0U0, P0C5A5, P0C5V9, P0DO60, P17384, P17758, P18452, P18455, P19564, P26035, P35948, P61572, P61573, P61574, P61575, P61576, P61579, P69614, P69615, P89905, Q00794, Q03339, Q08II4, Q0A3Q0, Q0A428, Q17RA5, Q1A246, Q1PUD0, Q2HBN2, Q2RF97, Q30NP2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1004 predictions. Top by Δscore:

Variant	Effect	Δscore
20:45377210:AC:A	donor_gain	1.0000
20:45377211:CC:C	donor_gain	1.0000
20:45377340:CAC:C	acceptor_gain	1.0000
20:45377341:ACC:A	acceptor_loss	1.0000
20:45377344:T:C	acceptor_loss	1.0000
20:45377533:TCTCA:T	donor_loss	1.0000
20:45377534:CTCAC:C	donor_loss	1.0000
20:45377535:TCAC:T	donor_loss	1.0000
20:45377536:CACCG:C	donor_loss	1.0000
20:45377537:A:AC	donor_gain	1.0000
20:45377537:A:AG	donor_loss	1.0000
20:45377538:C:CC	donor_gain	1.0000
20:45377538:CCGTT:C	donor_gain	1.0000
20:45377612:AT:A	acceptor_gain	1.0000
20:45377613:TC:T	acceptor_loss	1.0000
20:45377614:C:CC	acceptor_gain	1.0000
20:45375549:TTCC:T	acceptor_gain	0.9900
20:45375551:CC:C	acceptor_gain	0.9900
20:45375552:CC:C	acceptor_gain	0.9900
20:45375552:CCTGG:C	acceptor_loss	0.9900
20:45375553:C:CA	acceptor_loss	0.9900
20:45375553:C:CC	acceptor_gain	0.9900
20:45375554:T:A	acceptor_loss	0.9900
20:45377205:AGCTT:A	donor_loss	0.9900
20:45377206:GCTTA:G	donor_loss	0.9900
20:45377207:CTT:C	donor_loss	0.9900
20:45377208:TTA:T	donor_loss	0.9900
20:45377209:TACCC:T	donor_loss	0.9900
20:45377210:A:AC	donor_gain	0.9900
20:45377210:ACCC:A	donor_loss	0.9900

AlphaMissense

1896 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:45375174:A:C	F211L	0.965
20:45375174:A:T	F211L	0.965
20:45375176:A:G	F211L	0.965
20:45377269:G:T	A66D	0.959
20:45375128:A:G	C227R	0.954
20:45377329:A:G	L46S	0.946
20:45375092:A:G	C239R	0.945
20:45375163:G:T	P215H	0.944
20:45375127:C:G	C227S	0.941
20:45375128:A:T	C227S	0.941
20:45375080:A:G	C243R	0.935
20:45377270:C:G	A66P	0.931
20:45375179:A:G	W210R	0.930
20:45375179:A:T	W210R	0.930
20:45375126:G:C	C227W	0.928
20:45377320:A:G	L49S	0.925
20:45375090:G:C	C239W	0.924
20:45375154:A:G	I218T	0.924
20:45375164:G:A	P215S	0.924
20:45377281:A:G	L62P	0.924
20:45375091:C:G	C239S	0.922
20:45375092:A:T	C239S	0.922
20:45375078:G:C	C243W	0.920
20:45375157:C:G	R217P	0.919
20:45375164:G:T	P215T	0.919
20:45375166:A:G	L214P	0.913
20:45375079:C:G	C243S	0.912
20:45375079:C:T	C243Y	0.912
20:45375080:A:T	C243S	0.912
20:45375110:G:T	R233S	0.912

dbSNP variants (sampled 300 via entrez): RS1000252888 (20:45372757 T>C), RS1000369573 (20:45372279 C>G), RS1000440573 (20:45379031 C>A), RS1000473221 (20:45379512 T>G), RS1000603368 (20:45372500 G>A), RS1000809785 (20:45377704 G>A,T), RS1001763464 (20:45373082 C>T), RS1001963141 (20:45378619 C>T), RS1002265921 (20:45378176 T>G), RS1002294930 (20:45379231 T>C), RS1002351153 (20:45372353 A>C), RS1002372418 (20:45372975 A>T), RS1002424761 (20:45372689 A>G), RS1002515434 (20:45375203 G>A,C), RS1002761592 (20:45374447 T>A,C,G)

Disease associations

OMIM: gene MIM:617316 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (1): complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010725_40	Malaria	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
sodium arsenite	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

2 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder