JPT2

Summary

JPT2 (Jupiter microtubule associated homolog 2, HGNC:14137) is a protein-coding gene on chromosome 16p13.3, encoding Jupiter microtubule associated homolog 2 (Q9H910). Nicotinic acid adenine dinucleotide phosphate (NAADP) binding protein required for NAADP-evoked intracellular calcium release.

Involved in endocytosis involved in viral entry into host cell and regulation of calcium-mediated signaling. Located in cytosol; nucleus; and plasma membrane.

Source: NCBI Gene 90861 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 49 total
• Druggable target: yes
• MANE Select transcript: NM_144570

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14137
Approved symbol	JPT2
Name	Jupiter microtubule associated homolog 2
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13092, L11, KIAA1426
Ensembl gene	ENSG00000206053
Ensembl biotype	protein_coding
OMIM	619241
Entrez	90861

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000248098, ENST00000382710, ENST00000382711, ENST00000561516, ENST00000562569, ENST00000562684, ENST00000565851, ENST00000566691, ENST00000566742, ENST00000566925, ENST00000567717, ENST00000568376, ENST00000569256, ENST00000569765, ENST00000906367, ENST00000932378, ENST00000932379

RefSeq mRNA: 3 — MANE Select: NM_144570 NM_001434665, NM_001434667, NM_144570

CCDS: CCDS10441

Canonical transcript exons

ENST00000248098 — 5 exons

Exon	Start	End
ENSE00001062168	1698811	1702086
ENSE00002580891	1678279	1678356
ENSE00003572238	1697812	1697860
ENSE00003613135	1691843	1691985
ENSE00003623369	1685439	1685587

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 97.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 80.9775 / max 440.1369, expressed in 1815 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152115	63.4134	1812
152116	16.7451	1708
152117	0.7909	400
152118	0.0281	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of bronchus	UBERON:0002031	97.31	gold quality
bronchial epithelial cell	CL:0002328	97.19	gold quality
bronchus	UBERON:0002185	97.11	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.10	gold quality
spinal cord	UBERON:0002240	96.59	gold quality
sperm	CL:0000019	96.43	gold quality
pancreatic ductal cell	CL:0002079	96.29	silver quality
amniotic fluid	UBERON:0000173	96.13	gold quality
cervix squamous epithelium	UBERON:0006922	96.11	silver quality
inferior vagus X ganglion	UBERON:0005363	96.04	gold quality
esophagus squamous epithelium	UBERON:0006920	95.87	gold quality
epithelium of nasopharynx	UBERON:0001951	95.77	gold quality
nasopharynx	UBERON:0001728	95.76	gold quality
squamous epithelium	UBERON:0006914	95.67	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.50	gold quality
inferior olivary complex	UBERON:0002127	95.48	gold quality
tongue squamous epithelium	UBERON:0006919	95.36	gold quality
epithelium of esophagus	UBERON:0001976	95.32	gold quality
nasal cavity epithelium	UBERON:0005384	95.28	gold quality
oviduct epithelium	UBERON:0004804	95.27	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.19	gold quality
male germ cell	CL:0000015	95.17	gold quality
hair follicle	UBERON:0002073	95.10	gold quality
right uterine tube	UBERON:0001302	95.09	gold quality
ventricular zone	UBERON:0003053	95.03	gold quality
embryo	UBERON:0000922	95.01	gold quality
islet of Langerhans	UBERON:0000006	94.59	gold quality
endometrium	UBERON:0001295	94.53	gold quality
ganglionic eminence	UBERON:0004023	94.43	gold quality
gingival epithelium	UBERON:0001949	94.30	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	6.55
E-ANND-3	yes	6.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

94 targeting JPT2, 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-126-5P	100.00	72.71	3180
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909

Literature-anchored findings (GeneRIF, showing 11)

• The positive correlation of HN1L expression and Ki67 level in a large NSCLC samples further suggested the key role of HN1L in the regulation of cell growth. Further study showed that knockdown of HN1L resulted in dramatic cell cycle arrest by interfering with MAPK pathway via interacting with RASA4 protein. (PMID:29053395)
• reveal that breast cancer stem cell (BCSC) in triple-negative breast cancer depend on the transcription regulator HN1L for the sustained activation of the LEPR-STAT3 pathway, which makes it a potentially important target for both prognosis and BCSC therapy. (PMID:29249663)
• HN1L-mediated transcriptional axis AP-2gamma/METTL13/TCF3-ZEB1 drives tumor growth and metastasis in hepatocellular carcinoma. (PMID:30778199)
• HN1L promotes migration and invasion of breast cancer by up-regulating the expression of HMGB1. (PMID:33191617)
• HN1L promotes invasion and metastasis of the esophagogastric junction adenocarcinoma. (PMID:33471419)
• Essential requirement for JPT2 in NAADP-evoked Ca(2+) signaling. (PMID:33758061)
• HN1L/JPT2: A signaling protein that connects NAADP generation to Ca(2+) microdomain formation. (PMID:33758062)
• HN1L promotes stem cell-like properties by regulating TGF-beta signaling pathway through targeting FOXP2 in prostate cancer. (PMID:34519127)
• HN1L/AP-2gamma/PLK1 signaling drives tumor progression and chemotherapy resistance in esophageal squamous cell carcinoma. (PMID:36476988)
• Convergent activation of two-pore channels mediated by the NAADP-binding proteins JPT2 and LSM12. (PMID:37607218)
• JPT2 Affects Trophoblast Functions and Macrophage Polarization and Metabolism, and Acts as a Potential Therapeutic Target for Recurrent Spontaneous Abortion. (PMID:38417123)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	jpt2	ENSDARG00000034427
mus_musculus	Jpt2	ENSMUSG00000024165
mus_musculus	1700049L16Rik	ENSMUSG00000043859
rattus_norvegicus	Jpt2l1	ENSRNOG00000071584

Protein

Protein identifiers

Jupiter microtubule associated homolog 2 — Q9H910 (reviewed: Q9H910)

Alternative names: Hematological and neurological expressed 1-like protein

All UniProt accessions (9): Q9H910, A6NGP5, B4E1P3, H3BMM8, H3BMT0, H3BMV3, H3BS08, H3BTV5, H3BU16

UniProt curated annotations — full annotation on UniProt →

Function. Nicotinic acid adenine dinucleotide phosphate (NAADP) binding protein required for NAADP-evoked intracellular calcium release. Confers NAADP-sensitivity to the two pore channels (TPCs) complex. Enables NAADP to activate Ca(2+) release from the endoplasmic reticulum through ryanodine receptors. (Microbial infection) Involved in the endolysosomal trafficking of human coronavirus SARS-CoV-2.

Subunit / interactions. Monomer. Dimer. Interacts with TPCN1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in liver, kidney, prostate, testis and uterus.

Induction. Up-regulated in squamous cell carcinoma (SCC) adenocarcinoma (AC), adenosquamous cell carcinoma (ASCC), bronchioalveolar carcinoma (BAC), breast and uterus tumors.

Similarity. Belongs to the JUPITER family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H910-1	1, HN1LA	yes
Q9H910-2	2, HN1LB, HN1LC
Q9H910-3	3

RefSeq proteins (3): NP_001421594, NP_001421596, NP_653171* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033335	JUPITER	Family

Pfam: PF17054

UniProt features (15 total): modified residue 8, compositionally biased region 3, splice variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H910-F1	60.42	0.00

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 (8): 97, 132, 144, 1, 30, 35, 45, 69

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (2): regulation of calcium-mediated signaling (GO:0050848), endocytosis involved in viral entry into host cell (GO:0075509)

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

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
calcium-mediated signaling	1
regulation of intracellular signal transduction	1
symbiont entry into host cell	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

516 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JPT2	JPT1	Q9UK76	718
JPT2	LSM12	Q3MHD2	620
JPT2	TPCN2	Q8NHX9	582
JPT2	CRAMP1	Q96RY5	560
JPT2	TPCN1	Q9ULQ1	512
JPT2	ASPDH	A6ND91	475
JPT2	ARSG	Q96EG1	463
JPT2	RNPEPL1	Q9HAU8	452
JPT2	METTL13	Q8N6R0	447
JPT2	GPR82	Q96P67	447
JPT2	MTREX	P42285	429
JPT2	RYR1	P21817	412
JPT2	CORIN	Q9Y5Q5	382
JPT2	CHFR	Q96EP1	366
JPT2	DNASE2	O00115	360

IntAct

23 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
JPT2	RPL30	psi-mi:“MI:0915”(physical association)	0.400
JPT2	FIGNL1	psi-mi:“MI:0915”(physical association)	0.400
JPT2	CARM1	psi-mi:“MI:0915”(physical association)	0.400
EGR2	JPT2	psi-mi:“MI:0915”(physical association)	0.370
TFAP2C	JPT2	psi-mi:“MI:0915”(physical association)	0.370
OTUB1	EPM2A	psi-mi:“MI:0914”(association)	0.350
UBA5	P4HA1	psi-mi:“MI:0914”(association)	0.350
Tubg1	ZC3H18	psi-mi:“MI:0914”(association)	0.350
TP53	HGS	psi-mi:“MI:0914”(association)	0.350
CCP110	A2ML1	psi-mi:“MI:0914”(association)	0.350
CCP110	KIF2A	psi-mi:“MI:0914”(association)	0.350
SAR1B	UBA6	psi-mi:“MI:0914”(association)	0.350
SWSAP1	NACA	psi-mi:“MI:2364”(proximity)	0.270
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270
JPT2	XRCC6	psi-mi:“MI:0915”(physical association)	0.000
RASA4	JPT2	psi-mi:“MI:0915”(physical association)	0.000
SLC25A20	JPT2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (69): HN1L (Co-fractionation), HN1L (Co-fractionation), HN1L (Affinity Capture-MS), HN1L (Affinity Capture-MS), HN1L (Affinity Capture-MS), HN1L (Proximity Label-MS), FIGNL1 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), HN1L (Affinity Capture-MS), HN1L (Affinity Capture-MS), HN1L (Proximity Label-MS), HN1L (Affinity Capture-MS), HN1L (Proximity Label-MS), HN1L (Proximity Label-MS), HN1L (Proximity Label-MS)

ESM2 similar proteins: A1A5R9, A2RSX4, A5WUY6, A6QQ60, A8MTA8, A8MYP8, B1AR13, H3BNL1, O94888, P21580, P54277, Q08BC4, Q13542, Q14161, Q14CM0, Q2TBS4, Q3KQ80, Q3UGM2, Q4KLY8, Q4R8V9, Q4R8W3, Q5BK20, Q5M8M2, Q5RDJ2, Q5RDU9, Q5REY7, Q5TH74, Q5ZLS2, Q60769, Q658L1, Q6IE70, Q6KAU4, Q6P5G6, Q6PGH2, Q6ZWH5, Q8BGF7, Q8BQB6, Q8C8J0, Q8IWR0, Q8K2D3

Diamond homologs: B3M0Y8, B3P4I7, B4GMI7, B4HI06, B4JUG8, B4KBL1, B4M5L0, B4N8G6, B4PU44, B4QU20, P97825, Q6AXU6, Q9H910, Q9I7K0, Q9UK76, Q6PGH2, Q5BK20

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 25 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ub-specific processing proteases	5	12.1×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

907 predictions. Top by Δscore:

Variant	Effect	Δscore
16:1685430:T:TA	acceptor_gain	1.0000
16:1685433:TTGTA:T	acceptor_loss	1.0000
16:1685434:TGTA:T	acceptor_loss	1.0000
16:1685436:TA:T	acceptor_loss	1.0000
16:1685437:A:AC	acceptor_loss	1.0000
16:1685437:A:AG	acceptor_gain	1.0000
16:1685437:AG:A	acceptor_gain	1.0000
16:1685437:AGG:A	acceptor_gain	1.0000
16:1685438:G:GT	acceptor_gain	1.0000
16:1685438:GG:G	acceptor_gain	1.0000
16:1685438:GGG:G	acceptor_gain	1.0000
16:1685438:GGGC:G	acceptor_gain	1.0000
16:1685438:GGGCC:G	acceptor_gain	1.0000
16:1685586:AGG:A	donor_loss	1.0000
16:1685587:GGTAT:G	donor_loss	1.0000
16:1685588:G:T	donor_loss	1.0000
16:1685589:T:G	donor_loss	1.0000
16:1691841:AGGG:A	acceptor_gain	1.0000
16:1691842:GGGG:G	acceptor_gain	1.0000
16:1697857:AAAG:A	donor_loss	1.0000
16:1697861:G:GA	donor_loss	1.0000
16:1697862:T:A	donor_loss	1.0000
16:1698810:GCT:G	acceptor_gain	1.0000
16:1678353:CCAG:C	donor_loss	0.9900
16:1678354:CAGG:C	donor_loss	0.9900
16:1678355:AG:A	donor_loss	0.9900
16:1678356:GGT:G	donor_loss	0.9900
16:1678357:G:T	donor_loss	0.9900
16:1678358:T:A	donor_loss	0.9900
16:1685436:TAGGG:T	acceptor_gain	0.9900

AlphaMissense

1239 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:1685536:T:C	F48L	0.987
16:1685538:T:A	F48L	0.987
16:1685538:T:G	F48L	0.987
16:1691861:T:C	I71T	0.984
16:1691863:T:C	F72L	0.982
16:1691865:T:A	F72L	0.982
16:1691865:T:G	F72L	0.982
16:1698953:G:C	K176N	0.982
16:1698953:G:T	K176N	0.982
16:1698981:A:C	S186R	0.982
16:1698983:C:A	S186R	0.982
16:1698983:C:G	S186R	0.982
16:1691932:T:C	F95L	0.981
16:1691934:T:A	F95L	0.981
16:1691934:T:G	F95L	0.981
16:1691923:A:C	S92R	0.979
16:1691925:C:A	S92R	0.979
16:1691925:C:G	S92R	0.979
16:1698939:C:A	R172S	0.979
16:1698970:G:A	G182E	0.979
16:1698973:G:A	G183D	0.979
16:1691930:T:C	I94T	0.977
16:1691854:A:C	S69R	0.976
16:1691856:T:A	S69R	0.976
16:1691856:T:G	S69R	0.976
16:1698950:C:A	N175K	0.976
16:1698950:C:G	N175K	0.976
16:1698991:T:C	F189S	0.973
16:1691861:T:G	I71S	0.971
16:1698927:G:A	G168R	0.971

dbSNP variants (sampled 300 via entrez): RS1000181694 (16:1696015 G>C), RS1000247915 (16:1689977 G>A), RS1000339537 (16:1702369 A>T), RS1000392638 (16:1676682 G>A,C), RS1000484758 (16:1695602 G>A), RS1000499987 (16:1679308 G>C,T), RS1000517055 (16:1691607 G>C,T), RS1000575281 (16:1697812 G>A), RS1000614955 (16:1681390 C>A), RS1000713241 (16:1686096 G>C), RS1001043222 (16:1679536 A>G), RS1001099690 (16:1690128 T>G), RS1001157200 (16:1687175 C>G,T), RS1001430864 (16:1696927 A>G), RS1001664871 (16:1677448 T>A)

Disease associations

OMIM: gene MIM:619241 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002949_19	Epilepsy and lamotrigine-induced maculopapular eruptions	3.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001253	maculopapular eruption

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295946 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
Valproic Acid	affects cotreatment, decreases expression, affects expression	3
bisphenol A	decreases expression, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
quercitrin	increases expression	1
tetrahydropalmatine	decreases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
torcetrapib	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Benztropine	affects cotreatment, increases expression	1
Carbamazepine	affects expression	1
Copper	affects binding, decreases expression	1
Cuprizone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	affects binding, increases reaction	1
Furaldehyde	affects cotreatment, affects localization, decreases expression	1
Ivermectin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118979	Binding	Binding affinity to HN1L in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1ZG	HAP1 HN1L (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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