PNMA8A

Summary

PNMA8A (PNMA family member 8A, HGNC:25578) is a protein-coding gene on chromosome 19q13.32, encoding Paraneoplastic antigen-like protein 8A (Q86V59).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_018215

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25578
Approved symbol	PNMA8A
Name	PNMA family member 8A
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1183L, FLJ10781
Ensembl gene	ENSG00000182013
Ensembl biotype	protein_coding
OMIM	620933
Entrez	55228

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000313683, ENST00000438932, ENST00000602246, ENST00000890887, ENST00000890888

RefSeq mRNA: 2 — MANE Select: NM_018215 NM_001103149, NM_018215

CCDS: CCDS33059, CCDS46124

Canonical transcript exons

ENST00000313683 — 3 exons

Exon	Start	End
ENSE00001232517	46469733	46471114
ENSE00001510078	46471337	46471563
ENSE00002278908	46466503	46468577

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3872 / max 200.9506, expressed in 1029 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181640	8.3754	957
181639	1.0118	416

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.83	gold quality
middle temporal gyrus	UBERON:0002771	98.82	gold quality
cerebellar vermis	UBERON:0004720	98.64	gold quality
pons	UBERON:0000988	98.40	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.35	gold quality
orbitofrontal cortex	UBERON:0004167	98.17	gold quality
superior frontal gyrus	UBERON:0002661	97.93	gold quality
parietal lobe	UBERON:0001872	97.87	gold quality
superior vestibular nucleus	UBERON:0007227	97.86	gold quality
postcentral gyrus	UBERON:0002581	97.82	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.79	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.09	gold quality
choroid plexus epithelium	UBERON:0003911	97.05	gold quality
entorhinal cortex	UBERON:0002728	97.01	gold quality
substantia nigra pars compacta	UBERON:0001965	96.88	gold quality
ventral tegmental area	UBERON:0002691	96.62	gold quality
prefrontal cortex	UBERON:0000451	96.25	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.99	gold quality
frontal cortex	UBERON:0001870	95.89	gold quality
frontal lobe	UBERON:0016525	95.89	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.87	gold quality
occipital lobe	UBERON:0002021	95.82	gold quality
germinal epithelium of ovary	UBERON:0001304	95.55	gold quality
neocortex	UBERON:0001950	95.39	gold quality
medulla oblongata	UBERON:0001896	95.37	gold quality
cerebral cortex	UBERON:0000956	95.29	gold quality
primary visual cortex	UBERON:0002436	95.25	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.24	gold quality
hypothalamus	UBERON:0001898	95.08	gold quality
blood vessel layer	UBERON:0004797	94.60	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-75140	no	91.57
E-GEOD-111727	no	57.23
E-ANND-3	no	2.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting PNMA8A, 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-8485	100.00	77.57	4731
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-6848-3P	99.64	66.49	885

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pnma8a	ENSMUSG00000041141
rattus_norvegicus	Pnma8a	ENSRNOG00000027944

Paralogs (13): MOAP1 (ENSG00000165943), ZCCHC18 (ENSG00000166707), CCDC8 (ENSG00000169515), ZCCHC12 (ENSG00000174460), PNMA1 (ENSG00000176903), PNMA3 (ENSG00000183837), PNMA5 (ENSG00000198883), PNMA8B (ENSG00000204851), PNMA6E (ENSG00000214897), PNMA6F (ENSG00000225110), PNMA6A (ENSG00000235961), PNMA2 (ENSG00000240694), PNMA8C (ENSG00000277531)

Protein

Protein identifiers

Paraneoplastic antigen-like protein 8A — Q86V59 (reviewed: Q86V59)

Alternative names: PNMA-like protein 1

All UniProt accessions (2): M0R388, Q86V59

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PNMA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86V59-1	1	yes
Q86V59-2	2

RefSeq proteins (2): NP_001096619, NP_060685* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026523	PNMA	Family
IPR048271	PNMA_N	Domain
IPR049131	PNM8A_C	Domain

Pfam: PF20846, PF20847

UniProt features (11 total): compositionally biased region 4, splice variant 2, sequence variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86V59-F1	59.99	0.16

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 84 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, CLAUS_PGR_POSITIVE_MENINGIOMA_UP, TGCGCANK_UNKNOWN, MODULE_255, MODULE_317, TGACCTY_ERR1_Q2, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, MODULE_171, GCM_CALM1, BIDUS_METASTASIS_UP, GCM_MAP1B, GOCC_NUCLEAR_BODY

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

1120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PNMA8A	ZCCHC18	P0CG32	431
PNMA8A	RTL6	Q6ICC9	422
PNMA8A	PGBD5	Q8N414	406
PNMA8A	SPRYD7	Q5W111	396
PNMA8A	ZACN	Q401N2	384
PNMA8A	RTL5	Q5HYW3	369
PNMA8A	AMZ2	Q86W34	368
PNMA8A	WFDC12	Q8WWY7	364
PNMA8A	METTL27	Q8N6F8	361
PNMA8A	ABITRAM	Q9NX38	360
PNMA8A	LONRF2	Q1L5Z9	359
PNMA8A	ZCCHC12	Q6PEW1	358
PNMA8A	HSDL1	Q3SXM5	348
PNMA8A	WDR86	Q86TI4	348
PNMA8A	VWDE	Q8N2E2	342

IntAct

22 interactions, top by confidence:

A	B	Type	Score
PNMA1	ACTB	psi-mi:“MI:0914”(association)	0.530
RARG	RARA	psi-mi:“MI:0914”(association)	0.530
MOAP1	PNMA8A	psi-mi:“MI:0914”(association)	0.530
PNMA1	PRKCI	psi-mi:“MI:0914”(association)	0.500
PNMA8A	CARS2	psi-mi:“MI:0915”(physical association)	0.400
RARG	RARA	psi-mi:“MI:0914”(association)	0.350
MOAP1	MYO9B	psi-mi:“MI:0914”(association)	0.350
PNMA2	TARS3	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
RPL15	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
AKR7L	KIF2A	psi-mi:“MI:0914”(association)	0.350
PNMA8A	AP3B1	psi-mi:“MI:0914”(association)	0.350
H2AJ	WDR46	psi-mi:“MI:0914”(association)	0.350
CFAP141	WDR46	psi-mi:“MI:0914”(association)	0.350
POLE3	ERI3	psi-mi:“MI:0914”(association)	0.350
CES2	SERPINF2	psi-mi:“MI:0914”(association)	0.350
PNMA6A	ZFTRAF1	psi-mi:“MI:0914”(association)	0.350
PNMA6A	PNMA6A	psi-mi:“MI:0914”(association)	0.350
KRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
PNMA8A	IKBKG	psi-mi:“MI:0407”(direct interaction)	0.000

BioGRID (129): PNMAL1 (Affinity Capture-MS), PNMAL1 (Affinity Capture-MS), PNMAL1 (Affinity Capture-MS), PNMAL1 (Affinity Capture-MS), PNMAL1 (Synthetic Lethality), CARS2 (Proximity Label-MS), PNMAL1 (Reconstituted Complex), PNMAL1 (Affinity Capture-MS), NCL (Affinity Capture-MS), RPLP0 (Affinity Capture-MS), NVL (Affinity Capture-MS), LRPPRC (Affinity Capture-MS), PNMAL1 (Affinity Capture-MS), RPLP2 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YX94, A0A0J9YXQ4, A0A0J9YY54, A0A494C1R9, A5D7L8, A6NDY0, A6NKD2, A7E321, E9PGG2, F6SZT2, O14771, O19110, O75807, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0CW24, P17564, P78358, Q01534, Q0P5N2, Q15735, Q2KI51, Q2M329, Q587J8, Q5DTT8, Q5R5G8, Q5R6R8, Q5SV97, Q60465, Q62881, Q69ZB3, Q6P752, Q86V59, Q8BSI6, Q8IWY8, Q8N3D4, Q8VD63

Diamond homologs: A0A0J9YX94, A0A0J9YXQ4, A0A1B0GUJ8, A6QLK5, A7E321, P0CG32, P0CW24, Q08DL1, Q2KIT6, Q5HZA3, Q5R6R8, Q6PEW1, Q80VM8, Q86V59, Q8JZW8, Q8ND90, Q8VD24, Q8VHZ4, Q9CZA5, Q9UL41, Q9ULN7, D3YZV8, P62521, Q5DTT8, Q5R486, Q8BHK0, Q8C1C8, Q95KI4, Q96BY2, Q96PV4, Q9ERH6, Q9GMU3, Q9H0W5, Q9UL42

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	80
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

519 predictions. Top by Δscore:

Variant	Effect	Δscore
19:46471330:GACTT:G	donor_loss	1.0000
19:46471331:ACTTA:A	donor_loss	1.0000
19:46471332:CTT:C	donor_loss	1.0000
19:46471333:TTA:T	donor_loss	1.0000
19:46471334:TA:T	donor_loss	1.0000
19:46471335:A:AC	donor_gain	1.0000
19:46471336:C:CC	donor_gain	1.0000
19:46471336:CT:C	donor_gain	1.0000
19:46471336:CTT:C	donor_gain	1.0000
19:46471336:CTTG:C	donor_gain	1.0000
19:46471336:CTTGG:C	donor_gain	1.0000
19:46468576:TT:T	acceptor_gain	0.9900
19:46468577:TC:T	acceptor_loss	0.9900
19:46468578:C:CC	acceptor_gain	0.9900
19:46468579:T:C	acceptor_loss	0.9900
19:46466768:T:C	acceptor_gain	0.9800
19:46466768:T:TC	acceptor_gain	0.9800
19:46468584:A:AC	acceptor_gain	0.9800
19:46468574:GATT:G	acceptor_gain	0.9600
19:46468517:T:TA	donor_gain	0.9500
19:46468588:A:AC	acceptor_gain	0.9500
19:46471113:TC:T	acceptor_gain	0.9500
19:46471114:CC:C	acceptor_gain	0.9500
19:46468187:C:CT	acceptor_gain	0.9400
19:46468584:A:C	acceptor_gain	0.9400
19:46471111:AATCC:A	acceptor_loss	0.9400
19:46471112:ATCC:A	acceptor_loss	0.9400
19:46471113:TCC:T	acceptor_loss	0.9400
19:46471115:CTGCA:C	acceptor_loss	0.9400
19:46471116:T:A	acceptor_loss	0.9400

AlphaMissense

2876 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:46470759:A:G	W93R	0.994
19:46470759:A:T	W93R	0.994
19:46470956:A:T	V27D	0.994
19:46470999:A:G	W13R	0.994
19:46470999:A:T	W13R	0.994
19:46470697:G:C	F113L	0.992
19:46470697:G:T	F113L	0.992
19:46470699:A:G	F113L	0.992
19:46470856:A:C	F60L	0.992
19:46470856:A:T	F60L	0.992
19:46470858:A:G	F60L	0.992
19:46470718:A:C	F106L	0.991
19:46470718:A:T	F106L	0.991
19:46470720:A:G	F106L	0.991
19:46470707:A:G	L110P	0.989
19:46470757:C:A	W93C	0.988
19:46470757:C:G	W93C	0.988
19:46470947:A:G	I30T	0.988
19:46470997:C:A	W13C	0.988
19:46470997:C:G	W13C	0.988
19:46470719:A:G	F106S	0.987
19:46470827:A:G	L70P	0.985
19:46470834:C:G	A68P	0.985
19:46470779:A:G	F86S	0.984
19:46470994:G:C	C14W	0.983
19:46471002:C:G	D12H	0.982
19:46470778:G:C	F86L	0.981
19:46470778:G:T	F86L	0.981
19:46470780:A:G	F86L	0.981
19:46470996:A:G	C14R	0.981

dbSNP variants (sampled 300 via entrez): RS1000414505 (19:46468419 C>T), RS1001792755 (19:46472943 T>A), RS1001874990 (19:46469329 T>C), RS1001927521 (19:46469024 T>C), RS1002576586 (19:46472025 G>A), RS1002804408 (19:46471628 G>A), RS1003405169 (19:46471370 C>T), RS1003684111 (19:46466535 G>A), RS1003928572 (19:46468764 G>A,C,T), RS1005519048 (19:46471608 G>A), RS1006207340 (19:46472648 C>G,T), RS1006279547 (19:46472878 A>G), RS1006311389 (19:46468469 T>C), RS1006384202 (19:46468180 A>C), RS1006600613 (19:46467633 G>C)

Disease associations

OMIM: gene MIM:620933 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002415_4	Colorectal cancer (diet interaction)	5.000000e-06
GCST003542_198	Night sleep phenotypes	3.000000e-06
GCST004132_48	Crohn’s disease	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment, decreases expression	5
trichostatin A	increases expression, affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Lead	affects expression, increases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
FR900359	affects phosphorylation	1
arsenite	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Air Pollutants	decreases expression, increases abundance	1
Benztropine	affects cotreatment, decreases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Progesterone	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Cyclosporine	decreases expression	1
Topotecan	affects response to substance	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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