TPD52

Summary

TPD52 (tumor protein D52, HGNC:12005) is a protein-coding gene on chromosome 8q21.13, encoding Tumor protein D52 (P55327).

Enables calcium ion binding activity and protein homodimerization activity. Involved in B cell differentiation. Located in endoplasmic reticulum and perinuclear region of cytoplasm.

Source: NCBI Gene 7163 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_001025253

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12005
Approved symbol	TPD52
Name	tumor protein D52
Location	8q21.13
Locus type	gene with protein product
Status	Approved
Aliases	D52, hD52, N8L
Ensembl gene	ENSG00000076554
Ensembl biotype	protein_coding
OMIM	604068
Entrez	7163

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 12 protein_coding, 8 retained_intron, 8 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay

ENST00000379096, ENST00000379097, ENST00000448733, ENST00000517427, ENST00000517445, ENST00000517462, ENST00000518500, ENST00000518517, ENST00000518937, ENST00000519250, ENST00000519303, ENST00000520035, ENST00000520527, ENST00000520741, ENST00000520795, ENST00000520877, ENST00000521241, ENST00000521354, ENST00000521561, ENST00000521618, ENST00000522364, ENST00000523193, ENST00000523319, ENST00000523395, ENST00000523564, ENST00000523753, ENST00000523783, ENST00000524194, ENST00000602950, ENST00000861105, ENST00000861106, ENST00000861107, ENST00000925382

RefSeq mRNA: 10 — MANE Select: NM_001025253 NM_001025252, NM_001025253, NM_001287140, NM_001287142, NM_001287143, NM_001287144, NM_001387778, NM_001387779, NM_001387780, NM_005079

CCDS: CCDS34912, CCDS47879, CCDS55249, CCDS75757, CCDS75758, CCDS75759

Canonical transcript exons

ENST00000518937 — 8 exons

Exon	Start	End
ENSE00001479751	80034745	80038235
ENSE00002107427	80171425	80171564
ENSE00003523553	80050445	80050471
ENSE00003536431	80044167	80044208
ENSE00003612889	80042620	80042668
ENSE00003735216	80051527	80051628
ENSE00003750848	80053282	80053430
ENSE00003751876	80064478	80064593

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.9721 / max 770.4684, expressed in 1270 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93697	17.0233	1251
93696	2.3056	719
93691	1.1093	147
93700	0.3077	127
93685	0.1978	101
93695	0.1434	75
93694	0.1389	69
93689	0.1336	55
93688	0.1298	45
93687	0.1165	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.40	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.19	gold quality
secondary oocyte	CL:0000655	99.15	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.14	gold quality
colonic mucosa	UBERON:0000317	98.93	gold quality
endothelial cell	CL:0000115	98.78	gold quality
oocyte	CL:0000023	98.71	gold quality
islet of Langerhans	UBERON:0000006	98.58	gold quality
parotid gland	UBERON:0001831	98.56	gold quality
rectum	UBERON:0001052	98.54	gold quality
epithelium of nasopharynx	UBERON:0001951	98.50	gold quality
duodenum	UBERON:0002114	98.34	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.28	gold quality
pons	UBERON:0000988	98.21	gold quality
tonsil	UBERON:0002372	98.17	gold quality
pylorus	UBERON:0001166	98.14	gold quality
gingival epithelium	UBERON:0001949	98.14	gold quality
choroid plexus epithelium	UBERON:0003911	98.11	gold quality
palpebral conjunctiva	UBERON:0001812	98.07	gold quality
gingiva	UBERON:0001828	97.92	gold quality
substantia nigra pars compacta	UBERON:0001965	97.91	gold quality
esophagus squamous epithelium	UBERON:0006920	97.81	gold quality
middle temporal gyrus	UBERON:0002771	97.77	gold quality
subthalamic nucleus	UBERON:0001906	97.68	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.63	gold quality
trigeminal ganglion	UBERON:0001675	97.53	gold quality
squamous epithelium	UBERON:0006914	97.48	gold quality
tongue squamous epithelium	UBERON:0006919	97.33	gold quality
superior vestibular nucleus	UBERON:0007227	97.30	gold quality
epithelium of esophagus	UBERON:0001976	97.22	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	1073.95
E-MTAB-5061	yes	643.65
E-MTAB-9388	yes	270.86
E-CURD-88	yes	89.30
E-MTAB-9467	yes	49.82
E-HCAD-4	yes	48.91
E-CURD-122	yes	40.99
E-CURD-46	yes	35.56
E-MTAB-8410	yes	33.56
E-HCAD-1	yes	30.99
E-HCAD-11	yes	25.43
E-HCAD-10	yes	24.82
E-GEOD-125970	yes	20.67
E-GEOD-81547	yes	13.28
E-CURD-114	yes	11.85

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

131 targeting TPD52, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-589-3P	99.91	69.62	2088

Literature-anchored findings (GeneRIF, showing 40)

• TPD52 bound to annexin VI in a Ca(2+)-dependent manner suggesting that these molecules may act in concert to regulate secretory processes in plasma cells (PMID:15576473)
• tumor protein D52 represents a novel molecular marker in ovarian cancer, which is broadly expressed across the different histologic subtypes (PMID:15986428)
• While D52 transcript was detected in T-ALL and pre-B ALL at comparable frequencies, D52 was less frequently detected in ALL bone marrow with hyperdiploid karyotypes, compared with samples with normal karyotypes. (PMID:16620967)
• Additionally, the expression profile shows that hD55 is testis-specific, indicating a potential role for hD55 in testis development and spermatogenesis. (PMID:16631610)
• Thus, our studies not only provide molecular basis of PC-1 transcription regulation, but also define a new regulatory sequence that may be used to restrict expression of therapeutic genes to prostate cancer in the prostate cancer gene therapy. (PMID:17418805)
• PrLZ as a marker for prostate cancer progression and metastasis, and its pattern of expression is suggestive of a proto-oncogene (PMID:17947466)
• Tumor protein D52 was overexpressed in breast cancer tissue (PMID:18698023)
• CLIC1 and TPD52 were significantly (P<0.05) up-regulated in all cases of colorectal cancer investigated, irrespective of localization, pTNM stage and grade of colon cancer. (PMID:18710659)
• studies showed PrLZ expression might enhance the proliferation and invasion capability in vitro and also increase the tumorigenicity in situ prostate cancer animal model (PMID:18800346)
• TPD52 plays an important role in various molecular events, particularly in the morphological diversification and dissemination of prostate carcinoma cells (PMID:18959755)
• TPD52 was expressed in two-thirds of seminomas and embryonal carcinomas, and at intermediate frequencies in the more differentiated non-seminomas. (PMID:19041365)
• PrLZ may be involved in the invasion of prostate cancer. (PMID:19624875)
• Alternative splicing may contribute to abnormally enhanced PrLZ levels in prostate cancer, and interaction with 14-3-3 proteins may be a mechanism by which PrLZ promotes cell proliferation and survival during prostate cancer development and progression. (PMID:19732746)
• Implicate both D52 expression and Ca(2+)-dependent phosphorylation at serine 136 in lysosomal membrane trafficking to and from the plasma membrane providing a novel Ca(2+)-sensitive pathway modulating the lysosome-like secretory pathway. (PMID:20032513)
• PC-1 enhances c-myc gene expression in prostate cancer cells through the Wnt/beta-catenin pathway. (PMID:20423888)
• MAL2 overexpression was highest in clear cell carcinomas relative to other histological subtypes of ovarian cancer. (PMID:20846453)
• D52 phosphorylation plays an important role in the vesicle trafficking events that direct cell abscission. (PMID:20946871)
• TPD52 was frequently expressed in Ewing’s sarcoma family of tumors, but it’s overexpression did not provide any prognostic information (PMID:21338318)
• Data show that PrLZ elevated the phosphorylation of Akt and Stat3 and upregulated Bcl-2 expression. (PMID:21385902)
• Increased PrLZ-mediated androgen receptor transactivation promotes prostate cancer growth at castration-resistant stage. (PMID:23104178)
• TPD52 is a survival factor in ERBB2-amplified breast cancer. (PMID:23661506)
• TPD52 is a novel negative regulator of ATM protein levels, in turn, impacts ATM-mediated cellular responses to DNA damage. (PMID:23974097)
• TPD52 overexpression is associated with neoplasms. (PMID:24317684)
• PLP2 and RAB5C are binding partners of TPD52. (PMID:24604726)
• Data indicate that TPD52 and miR-224 expression are negatively correlated in clinical specimens. (PMID:24768995)
• highlight the potential value of genes such as TPD52, which are overexpressed in many cancer types, but have been relatively understudied [review] (PMID:24798974)
• low TPD52 expression was identified as a strong independent prognostic factor for both recurrence-free and overall disease-related survival in patients with insulinomas (PMID:24947143)
• these data firstly demonstrated that miR-218 directly regulates oncogenic TPD52 in PC3 cells and the miR-218-TPD52 axis can regulate growth of this prostate cancer cell line. (PMID:25511701)
• findings uncover a new isoform-specific role for TPD52 in promoting intracellular lipid storage, which might be relevant to TPD52 overexpression in cancer. (PMID:26183179)
• Findings suggested that TPD52 is a potential tumor suppressor in HCC. (PMID:26575170)
• High TPD52 expression is associated with breast cancer. (PMID:26678891)
• Treatment with IL-6 leads to a significant upregulation of PC-1 in LNCaP cells. Other TPD52 isoforms were not affected. PC-1 overexpression enhances the IL-6-mediated differentiation of LNCaP cells into a NE-like phenotype, with morphological changes and increased expression of NE markers, like chromogranin A, synaptophysin or beta-3 tubulin. PC-1 is also implicated in NE transdifferentiation. (PMID:26846108)
• High TPD52 expression is associated with cell migration and invasion in lung squamous cell carcinoma. (PMID:27633630)
• PC-1/PrLZ is a novel candidate involved in DNA double strand break repair and radioresistance, and targeting PC-1/PrLZ may offer promise for an effective method for enhancing the efficiency of radiation therapy for prostate cancer. (PMID:27694690)
• the present study demonstrated that TPD52 inhibited growth and metastasis of RCC, at least in part, by suppressing the PI3K/Akt signaling pathway. (PMID:27983909)
• Data suggest that TPD52 (tumor protein D52) and a TPD52 fragment (residues 78-280) along with TIA-1 (T-cell intracellular antigen-1) and TIAR (TIA-1-related protein) contribute to mRNA stability as cis-acting and trans-acting factors; 3prime-untranslated regions of TPD52, TPD53, and TPD54 regulate expression of their respective genes in a post-transcriptional manner by altering mRNA stability. (PMID:28298474)
• 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 (PMID:28339026)
• data reveal that TPD52 act through activation of JAK/STAT signaling pathway to undertake NB cells differentiation induced by All-Trans-Retinoic Acid. (PMID:28436114)
• TPD52 activates STAT3 through ascertaining a cross talk between the nuclear factor-kappaB and the STAT3 signaling systems. Collectively, these results reveal mechanism by which TPD52 is associated with prostate cancer progression and highlight the approach for therapeutic targeting of TPD52 in prostate cancer (PMID:28466782)
• data suggested that MAL2 and TPD52 might be potential biomarkers for clinical prognosis and might be a promising therapeutic target for CRC (PMID:28562687)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tpd52	ENSDARG00000061713
mus_musculus	Tpd52	ENSMUSG00000027506
rattus_norvegicus	Tpd52	ENSRNOG00000011441
drosophila_melanogaster	CG5174	FBGN0034345
caenorhabditis_elegans		WBGENE00008745

Paralogs (3): TPD52L2 (ENSG00000101150), TPD52L1 (ENSG00000111907), TPD52L3 (ENSG00000170777)

Protein

Protein identifiers

Tumor protein D52 — P55327 (reviewed: P55327)

Alternative names: Protein N8

All UniProt accessions (6): P55327, E5RFR7, E5RGI1, E5RJ27, E5RK35, H0YC44

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Forms a homodimer or heterodimer with other members of the family. All isoforms interact with several 14-3-3 proteins.

Tissue specificity. Isoform 2 is expressed in colon, breast, prostate, pancreas and kidney tumor cell lines. Isoform 2 is expressed at high levels in kidney, prostate, brain, small intestine and pancreas, at moderate levels in placenta and colon, at low levels in lung, liver and heart, and at very low levels in spleen, thymus, peripheral mononuclear blood cells, testis and ovary.

Miscellaneous. Interacts only with YWHAB and YWHAQ among 14-3-3 proteins.

Similarity. Belongs to the TPD52 family.

Isoforms (8)

UniProt ID	Names	Canonical?
P55327-1	1	yes
P55327-2	2
P55327-3	3, N8L
P55327-4	4
P55327-5	5, PrLZ-238
P55327-6	6, PrLZ-247
P55327-7	7, PrLZ-233
P55327-8	8, PrLZ-151

RefSeq proteins (10): NP_001020423, NP_001020424, NP_001274069, NP_001274071, NP_001274072, NP_001274073, NP_001374707, NP_001374708, NP_001374709, NP_005070 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007327	TPD52	Family

Pfam: PF04201

UniProt features (17 total): splice variant 6, modified residue 4, sequence conflict 2, chain 1, region of interest 1, sequence variant 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P55327-F1	69.11	0.19

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 36, 40, 176, 223

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-432722	Golgi Associated Vesicle Biogenesis

MSigDB gene sets: 372 (showing top): GOBP_B_CELL_ACTIVATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, REACTOME_MEMBRANE_TRAFFICKING, MORF_RAD51L3, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, ATGTTAA_MIR302C, PATIL_LIVER_CANCER, ONKEN_UVEAL_MELANOMA_UP, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_SECRETION

GO Biological Process (4): positive regulation of cell population proliferation (GO:0008284), anatomical structure morphogenesis (GO:0009653), B cell differentiation (GO:0030183), secretion (GO:0046903)

GO Molecular Function (3): calcium ion binding (GO:0005509), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), perinuclear region of cytoplasm (GO:0048471)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
trans-Golgi Network Vesicle Budding	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoplasm	2
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
developmental process	1
anatomical structure development	1
lymphocyte differentiation	1
B cell activation	1
transport	1
metal ion binding	1
identical protein binding	1
protein dimerization activity	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TPD52	MAL2	Q969L2	890
TPD52	PIGR	P01833	670
TPD52	CD59	P13987	609
TPD52	PAQR4	Q8N4S7	557
TPD52	MALL	Q13021	542
TPD52	RAB11A	P24410	497
TPD52	ANXA6	P08133	453
TPD52	RAB10	P61026	447
TPD52	RAB6A	P20340	446
TPD52	RAB5A	P20339	426
TPD52	ATAD2	Q6PL18	402
TPD52	A0A087WTN9	A0A087WTN9	402
TPD52	PLLP	Q9Y342	401
TPD52	VAMP2	P19065	392
TPD52	SLCO6A1	Q86UG4	388

IntAct

75 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MALSU1	NDUFAB1	psi-mi:“MI:0914”(association)	0.710
TPD52	TPD52L1	psi-mi:“MI:0915”(physical association)	0.660
TPD52L1	TPD52	psi-mi:“MI:0915”(physical association)	0.660
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
TPD52L3	TPD52L2	psi-mi:“MI:0914”(association)	0.530
TPD52L1	TPD52L2	psi-mi:“MI:0914”(association)	0.530
TPD52	TPD52L2	psi-mi:“MI:0914”(association)	0.530
TPD52	Tpd52	psi-mi:“MI:0915”(physical association)	0.530
TPD52	Tpd52	psi-mi:“MI:0407”(direct interaction)	0.530
	AP3D1	psi-mi:“MI:0914”(association)	0.460
TPD52	SRPK2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
YWHAZ	TPD52	psi-mi:“MI:0915”(physical association)	0.400
TPD52	E6	psi-mi:“MI:0915”(physical association)	0.370
TPD52	SOCS2	psi-mi:“MI:0915”(physical association)	0.370
TPD52	SENP2	psi-mi:“MI:0915”(physical association)	0.370
TPD52	TPD52	psi-mi:“MI:0915”(physical association)	0.370
TPD52	TPD52L2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (152): TPD52 (Affinity Capture-RNA), TPD52 (Affinity Capture-MS), CALU (Co-fractionation), CLIC4 (Co-fractionation), DUT (Co-fractionation), ENO2 (Co-fractionation), EZR (Co-fractionation), NACA2 (Co-fractionation), PAIP1 (Co-fractionation), PHB (Co-fractionation), PTGES3 (Co-fractionation), UCHL3 (Co-fractionation), TPD52 (Proximity Label-MS), TPD52 (Affinity Capture-MS), TPD52 (Affinity Capture-MS)

ESM2 similar proteins: A5D7H2, A6QPI6, E1BWM5, F1N5S9, F1QH17, O35094, O43399, O43615, O54818, O60941, O70585, P55327, P58405, P84060, Q13033, Q16890, Q4R3C7, Q5BJS4, Q5R812, Q5RCT1, Q5SRX1, Q5VWJ9, Q5XGW6, Q5ZHP5, Q5ZJB7, Q5ZMQ0, Q62393, Q6GL11, Q6PCT3, Q6ZVM7, Q75Q41, Q8CE50, Q8IVP5, Q8K1Z0, Q8WUX9, Q95212, Q96IK1, Q96RU3, Q9CPQ3, Q9CYZ2

Diamond homologs: O43399, O54818, P55326, P55327, Q16890, Q5RCT1, Q62393, Q6PCT3, Q95212, Q96J77, Q9CYZ2, Q9I8F4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CAMK2D	unknown	TPD52	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1534 predictions. Top by Δscore:

Variant	Effect	Δscore
8:80044222:T:TC	acceptor_gain	1.0000
8:80051525:A:AC	donor_gain	1.0000
8:80051526:C:CC	donor_gain	1.0000
8:80053280:A:AC	donor_gain	1.0000
8:80053281:C:CC	donor_gain	1.0000
8:80053281:CG:C	donor_gain	1.0000
8:80053303:TGCC:T	donor_gain	1.0000
8:80053427:CTAC:C	acceptor_gain	1.0000
8:80053429:ACCT:A	acceptor_loss	1.0000
8:80053430:CCTAT:C	acceptor_loss	1.0000
8:80053432:T:C	acceptor_loss	1.0000
8:80064472:CTTTA:C	donor_loss	1.0000
8:80064473:TTTAC:T	donor_loss	1.0000
8:80064474:TTA:T	donor_loss	1.0000
8:80064474:TTACC:T	donor_loss	1.0000
8:80064475:TAC:T	donor_loss	1.0000
8:80064475:TACC:T	donor_loss	1.0000
8:80064476:A:AC	donor_gain	1.0000
8:80064476:A:C	donor_loss	1.0000
8:80064477:C:CC	donor_gain	1.0000
8:80064477:C:CG	donor_loss	1.0000
8:80064477:C:CT	donor_loss	1.0000
8:80038064:TGG:T	donor_gain	0.9900
8:80038236:C:CC	acceptor_gain	0.9900
8:80038237:T:C	acceptor_gain	0.9900
8:80042666:TTT:T	acceptor_gain	0.9900
8:80042669:C:CC	acceptor_gain	0.9900
8:80044221:A:C	acceptor_gain	0.9900
8:80053285:G:C	donor_gain	0.9900
8:80053330:AGTT:A	donor_gain	0.9900

AlphaMissense

1330 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:80051551:A:T	I161N	0.999
8:80051563:A:T	V157D	0.999
8:80051575:G:T	A153D	0.999
8:80051584:G:T	A150D	0.998
8:80051596:G:T	A146D	0.998
8:80053387:T:A	K100I	0.998
8:80051551:A:C	I161S	0.997
8:80051585:C:G	A150P	0.997
8:80051627:A:C	Y136D	0.997
8:80051615:A:G	S140P	0.996
8:80051576:C:G	A153P	0.995
8:80051597:C:G	A146P	0.995
8:80051605:A:G	L143S	0.995
8:80053386:T:A	K100N	0.995
8:80053386:T:G	K100N	0.995
8:80053391:C:G	A99P	0.995
8:80051551:A:G	I161T	0.994
8:80053408:A:G	L93P	0.994
8:80042653:A:C	F174L	0.992
8:80042653:A:T	F174L	0.992
8:80042655:A:G	F174L	0.992
8:80053375:A:G	L104P	0.992
8:80042633:A:T	V181D	0.991
8:80051560:C:T	G158D	0.991
8:80051572:A:G	F154S	0.991
8:80064485:A:G	L83P	0.991
8:80042645:A:G	F177S	0.989
8:80053408:A:T	L93Q	0.988
8:80051530:A:T	V168E	0.987
8:80051627:A:T	Y136N	0.987

dbSNP variants (sampled 300 via entrez): RS1000049557 (8:80168908 T>C), RS1000128862 (8:80053889 C>T), RS1000130481 (8:80057843 A>T), RS1000149959 (8:80139877 T>C,G), RS1000192958 (8:80141357 A>T), RS1000211464 (8:80058560 G>A,T), RS1000298569 (8:80102711 T>A,C), RS1000315535 (8:80110525 T>A), RS1000349790 (8:80058680 C>A), RS1000363875 (8:80053981 G>A), RS1000369705 (8:80157911 A>G,T), RS1000373399 (8:80104841 C>T), RS1000393567 (8:80149679 G>A), RS1000397165 (8:80140180 G>A), RS1000473617 (8:80060455 T>A)

Disease associations

OMIM: gene MIM:604068 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST001823_13	Metabolite levels (HVA/MHPG ratio)	3.000000e-06
GCST002083_23	Self-reported allergy	8.000000e-08
GCST002118_23	Metabolite levels (Pyroglutamine)	2.000000e-07
GCST002318_158	Rheumatoid arthritis	7.000000e-09
GCST002318_34	Rheumatoid arthritis	2.000000e-08
GCST002918_1	Lapatinib-induced hepatotoxicity	5.000000e-08
GCST003987_14	Asthma	1.000000e-11
GCST003990_20	Allergy	1.000000e-09
GCST005212_33	Asthma	1.000000e-10
GCST006409_23	Allergic rhinitis	2.000000e-10
GCST006862_8	Asthma	2.000000e-08
GCST006959_117	Rheumatoid arthritis	6.000000e-07
GCST006959_39	Rheumatoid arthritis	1.000000e-07
GCST007993_23	Asthma (adult onset)	9.000000e-08
GCST007995_54	Asthma (childhood onset)	3.000000e-13
GCST008916_54	Asthma	2.000000e-24
GCST009720_45	Asthma	8.000000e-22
GCST009798_21	Asthma	6.000000e-22
GCST010796_4129	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST90013537_3	Kawasaki disease	8.000000e-08
GCST90014325_36	Asthma	2.000000e-23

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005131	HVA measurement
EFO:0005133	MHPG measurement
EFO:0005408	pyroglutamine measurement
EFO:1002011	adult onset asthma
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

69 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation, increases expression	5
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
nickel sulfate	increases expression	2
Arsenic Trioxide	increases expression	2
Vorinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases expression, decreases expression	1
arsenite	affects binding, increases reaction	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	decreases expression	1
2-nitrofluorene	decreases expression, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
candoxin	decreases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
enzalutamide	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D2MM	Abcam Raji TPD52 KO	Cancer cell line	Male
CVCL_WQ70	Abcam Jurkat TPD52 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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