PNMA8B

Summary

PNMA8B (PNMA family member 8B, HGNC:29206) is a protein-coding gene on chromosome 19q13.32, encoding Paraneoplastic antigen-like protein 8B (Q9ULN7).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 98 total
• MANE Select transcript: NM_020709

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29206
Approved symbol	PNMA8B
Name	PNMA family member 8B
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1183
Ensembl gene	ENSG00000204851
Ensembl biotype	protein_coding
OMIM	620159
Entrez	57469

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000594749, ENST00000599531

RefSeq mRNA: 1 — MANE Select: NM_020709 NM_020709

CCDS: CCDS59400

Canonical transcript exons

ENST00000599531 — 1 exons

Exon	Start	End
ENSE00003173619	46491191	46495867

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 93.79.

FANTOM5 (CAGE): breadth broad, TPM avg 3.8703 / max 174.2202, expressed in 466 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181646	1.8070	296
181647	1.6129	342
181644	0.1369	61
181645	0.1039	53
181648	0.0982	55
181642	0.0601	37
181643	0.0512	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	93.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.47	gold quality
right frontal lobe	UBERON:0002810	92.63	gold quality
frontal cortex	UBERON:0001870	92.41	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.10	gold quality
middle temporal gyrus	UBERON:0002771	91.80	gold quality
neocortex	UBERON:0001950	91.32	gold quality
hypothalamus	UBERON:0001898	91.20	gold quality
superior frontal gyrus	UBERON:0002661	91.06	gold quality
anterior cingulate cortex	UBERON:0009835	90.49	gold quality
cerebral cortex	UBERON:0000956	89.99	gold quality
primary visual cortex	UBERON:0002436	89.66	gold quality
postcentral gyrus	UBERON:0002581	88.97	gold quality
parietal lobe	UBERON:0001872	87.90	gold quality
Brodmann (1909) area 23	UBERON:0013554	87.67	gold quality
entorhinal cortex	UBERON:0002728	87.59	gold quality
amygdala	UBERON:0001876	87.37	gold quality
temporal lobe	UBERON:0001871	87.03	gold quality
Ammon’s horn	UBERON:0001954	86.66	gold quality
occipital lobe	UBERON:0002021	86.66	gold quality
forebrain	UBERON:0001890	86.24	gold quality
Brodmann (1909) area 46	UBERON:0006483	85.84	gold quality
right adrenal gland cortex	UBERON:0035827	84.85	gold quality
brain	UBERON:0000955	84.69	gold quality
nucleus accumbens	UBERON:0001882	84.53	gold quality
right adrenal gland	UBERON:0001233	84.13	gold quality
left adrenal gland	UBERON:0001234	83.53	gold quality
left adrenal gland cortex	UBERON:0035825	83.31	gold quality
caudate nucleus	UBERON:0001873	83.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.92

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting PNMA8B, 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-5193	100.00	67.26	1744
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-2392	99.43	67.50	708
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4763-3P	99.10	67.83	2649

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pnma8b	ENSMUSG00000070802
rattus_norvegicus	Pnma8b	ENSRNOG00000016863

Paralogs (13): MOAP1 (ENSG00000165943), ZCCHC18 (ENSG00000166707), CCDC8 (ENSG00000169515), ZCCHC12 (ENSG00000174460), PNMA1 (ENSG00000176903), PNMA8A (ENSG00000182013), PNMA3 (ENSG00000183837), PNMA5 (ENSG00000198883), PNMA6E (ENSG00000214897), PNMA6F (ENSG00000225110), PNMA6A (ENSG00000235961), PNMA2 (ENSG00000240694), PNMA8C (ENSG00000277531)

Protein

Protein identifiers

Paraneoplastic antigen-like protein 8B — Q9ULN7 (reviewed: Q9ULN7)

Alternative names: PNMA-like protein 2

All UniProt accessions (1): Q9ULN7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PNMA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9ULN7-5	2	yes
Q9ULN7-1	1

RefSeq proteins (1): NP_065760* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026523	PNMA	Family
IPR048271	PNMA_N	Domain

Pfam: PF20846

UniProt features (18 total): compositionally biased region 9, region of interest 3, sequence conflict 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULN7-F1	50.25	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 30 (showing top): LEE_BMP2_TARGETS_UP, MIR6764_5P, MIR1915_3P, MIR7113_5P, MIR223_5P, MIR6837_5P, MIR6776_5P, MIR4685_5P, MIR6745, MIR4726_3P, GSE14308_TH2_VS_INDUCED_TREG_DN, MANNO_MIDBRAIN_NEUROTYPES_HDA, MANNO_MIDBRAIN_NEUROTYPES_HNBGABA, MANNO_MIDBRAIN_NEUROTYPES_HGABA, MANNO_MIDBRAIN_NEUROTYPES_HSERT

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

5011 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PNMA8B	PNMA6E	A0A0J9YXQ4	596
PNMA8B	RLF	Q13129	473
PNMA8B	ZCCHC18	P0CG32	464
PNMA8B	GML	Q99445	438
PNMA8B	PLEKHA4	Q9H4M7	372
PNMA8B	ALDH18A1	P54886	353
PNMA8B	VARS1	P26640	353
PNMA8B	GART	P22102	353
PNMA8B	H6PD	O95479	353
PNMA8B	YARS1	P54577	352
PNMA8B	EEF1G	P26641	351
PNMA8B	CYB5R4	Q7L1T6	348
PNMA8B	MARS1	P56192	347
PNMA8B	CES4A	Q5XG92	346
PNMA8B	GOLM2	Q6P4E1	338
PNMA8B	ARSJ	Q5FYB0	338

IntAct

0 interactions, top by confidence:

BioGRID (2): PNMAL2 (Biochemical Activity), PNMAL2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RQG5, A1L429, A6NDE8, A6NER3, A6NGK3, E1AZ71, O08664, O60829, O75459, O76087, P0C2W7, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P52651, P62521, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q17QW4, Q28181, Q2T9P9, Q32PA2, Q4V321, Q4V326, Q5JQC4, Q5U2Y8, Q62100, Q63803, Q64256, Q6NT46, Q6X7S9, Q7Z2X7

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

21 predictions. Top by Δscore:

Variant	Effect	Δscore
19:46493699:T:TA	donor_gain	0.6500
19:46493692:T:TA	donor_gain	0.6400
19:46495456:T:A	acceptor_gain	0.5300
19:46495455:C:A	acceptor_gain	0.4900
19:46493872:T:TA	donor_gain	0.4800
19:46495453:GGCTC:G	acceptor_gain	0.4200
19:46495846:G:A	donor_gain	0.3600
19:46495454:GC:G	acceptor_gain	0.3500
19:46493682:C:A	donor_gain	0.3400
19:46495452:AGGCT:A	acceptor_gain	0.3300
19:46495462:C:T	acceptor_gain	0.2900
19:46493335:T:A	donor_gain	0.2700
19:46493602:T:TA	donor_gain	0.2700
19:46495251:T:TA	donor_gain	0.2700
19:46495468:TG:T	acceptor_gain	0.2700
19:46495560:C:A	acceptor_gain	0.2600
19:46493354:T:TA	donor_gain	0.2300
19:46493603:C:A	donor_gain	0.2200
19:46495466:G:GA	acceptor_gain	0.2000
19:46495771:TCGG:T	donor_gain	0.2000
19:46495772:CGGC:C	donor_gain	0.2000

AlphaMissense

4105 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:46494470:G:C	F332L	0.997
19:46494470:G:T	F332L	0.997
19:46494472:A:G	F332L	0.997
19:46494465:G:T	A334D	0.995
19:46494471:A:G	F332S	0.993
19:46494466:C:G	A334P	0.992
19:46494707:G:C	F253L	0.992
19:46494707:G:T	F253L	0.992
19:46494709:A:G	F253L	0.992
19:46494471:A:C	F332C	0.991
19:46495398:A:T	V23D	0.991
19:46494708:A:G	F253S	0.990
19:46494462:A:T	I335N	0.988
19:46494591:A:G	L292S	0.988
19:46494699:A:G	L256P	0.988
19:46494585:G:T	A294D	0.987
19:46494696:A:T	V257D	0.987
19:46494702:G:T	A255D	0.987
19:46494582:A:G	L295P	0.986
19:46494582:A:T	L295Q	0.986
19:46494411:T:A	K352I	0.985
19:46494586:C:G	A294P	0.985
19:46495389:A:G	I26T	0.984
19:46494270:G:T	A399D	0.983
19:46494271:C:G	A399P	0.983
19:46494775:C:G	A231P	0.983
19:46495319:G:C	F49L	0.983
19:46495319:G:T	F49L	0.983
19:46495321:A:G	F49L	0.983
19:46493858:C:A	K536N	0.982

dbSNP variants (sampled 300 via entrez): RS1000265498 (19:46493401 G>A), RS1000269308 (19:46494078 A>C,G), RS1000465880 (19:46494900 G>A), RS1000861251 (19:46490694 C>A,T), RS1000975204 (19:46490934 C>T), RS1001131101 (19:46492653 C>A), RS1001275024 (19:46492498 C>T), RS1002611427 (19:46495805 G>C), RS1002989164 (19:46493372 G>A,C), RS1003691281 (19:46496502 C>A,T), RS1004900910 (19:46493692 TC>T), RS1005093143 (19:46495262 C>A,T), RS1005303869 (19:46491630 G>A,C), RS1005679306 (19:46494222 A>G), RS1006014466 (19:46495767 T>A)

Disease associations

OMIM: gene MIM:620159 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003542_198	Night sleep phenotypes	3.000000e-06
GCST004132_48	Crohn’s disease	4.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
ferrous chloride	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Lead	affects expression	1
Silicon Dioxide	increases expression	1
Gold Compounds	increases expression	1
Acrylamide	decreases expression	1
Magnetite Nanoparticles	decreases methylation	1

Clinical trials (associated diseases)

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