PTTG1IP2

Summary

PTTG1IP2 (PTTG1IP family member 2, HGNC:55318) is a protein-coding gene on chromosome 7q21.13, encoding PTTG1IP family member 2 (P0DTF9).

Predicted to be located in membrane.

Source: NCBI Gene 102723899 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001365443

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55318
Approved symbol	PTTG1IP2
Name	PTTG1IP family member 2
Location	7q21.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000251154
Ensembl biotype	protein_coding
Entrez	102723899

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000509356

RefSeq mRNA: 1 — MANE Select: NM_001365443 NM_001365443

CCDS: CCDS94140

Canonical transcript exons

ENST00000509356 — 7 exons

Exon	Start	End
ENSE00002027845	90469639	90469931
ENSE00003466277	90479228	90479274
ENSE00003603443	90487327	90487420
ENSE00003693997	90488871	90488964
ENSE00003905266	90513278	90513397
ENSE00003906849	90492239	90492309
ENSE00003909617	90494367	90494430

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 89.84.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0340 / max 43.7552, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79458	0.0200	3
79459	0.0140	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.84	gold quality
right testis	UBERON:0004534	79.76	gold quality
left testis	UBERON:0004533	79.55	gold quality
testis	UBERON:0000473	79.25	gold quality
sural nerve	UBERON:0015488	43.79	gold quality
bone marrow cell	CL:0002092	38.78	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
skeletal muscle tissue	UBERON:0001134	35.58	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	33.08	gold quality
muscle tissue	UBERON:0002385	32.67	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
tonsil	UBERON:0002372	31.23	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
left uterine tube	UBERON:0001303	29.72	silver quality
prefrontal cortex	UBERON:0000451	29.23	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
urinary bladder	UBERON:0001255	26.89	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	25.74	gold quality
leukocyte	CL:0000738	25.54	gold quality
monocyte	CL:0000576	25.33	gold quality
gastrocnemius	UBERON:0001388	24.71	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.25

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pttg1ip2	ENSMUSG00000079666
rattus_norvegicus	Pttg1ip2	ENSRNOG00000051419

Paralogs (1): PTTG1IP (ENSG00000183255)

Protein

Protein identifiers

PTTG1IP family member 2 — P0DTF9 (reviewed: P0DTF9)

All UniProt accessions (1): P0DTF9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001352372* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR052304	PTTG1IP	Family

UniProt features (5 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DTF9-F1	61.62	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): ZNF274_TARGET_GENES, chr7q21

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GSZ0, A2APA5, A2BDG0, A2BDG5, A2BDG9, A6NGZ8, C1J5M5, C1J5M7, P01286, P04640, P09916, P0CE40, P0DTF9, P16043, P40147, P40148, P54615, P56529, P58239, P58844, P80957, P86045, P86546, P86547, Q0H293, Q14CH0, Q16655, Q1JPW9, Q2KIK3, Q498C7, Q58CU5, Q5CZ51, Q5HZE8, Q5RD34, Q5VUB5, Q60549, Q6DJ00, Q6P995, Q6UWW9, Q7TNI2

Diamond homologs: D3YUK8, P0DTF9

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

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000041921 (7:90497878 G>T), RS1000140432 (7:90482373 T>G), RS1000180946 (7:90478490 A>G), RS1000235840 (7:90501161 GA>G), RS1000263680 (7:90476963 A>G), RS1000286559 (7:90500807 G>A), RS1000309922 (7:90484930 C>A), RS1000322630 (7:90470472 A>G), RS1000447789 (7:90503792 T>C), RS1000536943 (7:90507974 C>A), RS1000692299 (7:90508286 G>A,T), RS1000703082 (7:90478165 C>A,T), RS1000777041 (7:90509376 G>T), RS1000786981 (7:90471626 T>C), RS1000874270 (7:90483367 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression	1

Clinical trials (associated diseases)

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