PNMA8C

Summary

PNMA8C (PNMA family member 8C, HGNC:53427) is a protein-coding gene on chromosome 19q13.32, encoding Paraneoplastic antigen-like protein 8C (A0A1B0GUJ8).

At a glance

• MANE Select transcript: NM_001386793

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53427
Approved symbol	PNMA8C
Name	PNMA family member 8C
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000277531
Ensembl biotype	protein_coding
OMIM	620934
Entrez	110806277

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000617053

RefSeq mRNA: 1 — MANE Select: NM_001386793 NM_001386793

CCDS: CCDS92649

Canonical transcript exons

ENST00000617053 — 1 exons

Exon	Start	End
ENSE00003738555	46424697	46428936

Expression profiles

Bgee: expression breadth broad, 89 present calls, max score 94.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	94.20	gold quality
superior frontal gyrus	UBERON:0002661	89.48	gold quality
prefrontal cortex	UBERON:0000451	86.99	gold quality
primary visual cortex	UBERON:0002436	86.39	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.16	gold quality
frontal cortex	UBERON:0001870	85.09	gold quality
quadriceps femoris	UBERON:0001377	85.06	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.69	gold quality
hypothalamus	UBERON:0001898	83.68	gold quality
cerebral cortex	UBERON:0000956	83.67	gold quality
anterior cingulate cortex	UBERON:0009835	82.73	gold quality
right frontal lobe	UBERON:0002810	81.70	gold quality
thymus	UBERON:0002370	79.70	silver quality
cortical plate	UBERON:0005343	79.42	gold quality
Ammon’s horn	UBERON:0001954	79.02	gold quality
brain	UBERON:0000955	78.60	gold quality
temporal lobe	UBERON:0001871	77.98	gold quality
nucleus accumbens	UBERON:0001882	77.88	gold quality
amygdala	UBERON:0001876	77.82	gold quality
ventricular zone	UBERON:0003053	77.32	gold quality
pituitary gland	UBERON:0000007	75.43	gold quality
adenohypophysis	UBERON:0002196	75.21	gold quality
substantia nigra	UBERON:0002038	73.64	gold quality
cerebellum	UBERON:0002037	73.34	gold quality
cerebellar cortex	UBERON:0002129	73.25	gold quality
cerebellar hemisphere	UBERON:0002245	73.10	gold quality
spinal cord	UBERON:0002240	72.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.95	gold quality
right hemisphere of cerebellum	UBERON:0014890	72.39	gold quality
caudate nucleus	UBERON:0001873	72.19	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.93
E-GEOD-111727	no	54.25

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pnma8c	ENSMUSG00000108348
rattus_norvegicus	Pnma8c	ENSRNOG00000085936

Paralogs (13): MOAP1 (ENSG00000165943), ZCCHC18 (ENSG00000166707), CCDC8 (ENSG00000169515), ZCCHC12 (ENSG00000174460), PNMA1 (ENSG00000176903), PNMA8A (ENSG00000182013), PNMA3 (ENSG00000183837), PNMA5 (ENSG00000198883), PNMA8B (ENSG00000204851), PNMA6E (ENSG00000214897), PNMA6F (ENSG00000225110), PNMA6A (ENSG00000235961), PNMA2 (ENSG00000240694)

Protein

Protein identifiers

Paraneoplastic antigen-like protein 8C — A0A1B0GUJ8 (reviewed: A0A1B0GUJ8)

All UniProt accessions (1): A0A1B0GUJ8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PNMA family.

RefSeq proteins (1): NP_001373722* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026523	PNMA	Family
IPR048271	PNMA_N	Domain

Pfam: PF20846

UniProt features (3 total): chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUJ8-F1	79.55	0.60

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): SOX3_TARGET_GENES, chr19q13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PNMA8C	ZCCHC18	P0CG32	621
PNMA8C	ZCCHC12	Q6PEW1	475
PNMA8C	PNMA6E	A0A0J9YXQ4	308
PNMA8C	TRIM39	Q9HCM9	209
PNMA8C	PNMA6F	A0A0J9YX94	206
PNMA8C	RASSF6	Q6ZTQ3	198
PNMA8C	PNMA8B	Q9ULN7	189
PNMA8C	RTL6	Q6ICC9	184
PNMA8C	CCDC8	Q9H0W5	169
PNMA8C	ADAMDEC1	O15204	166
PNMA8C	MTCH2	Q9Y6C9	165
PNMA8C	NIPAL1	Q6NVV3	164
PNMA8C	PCCA	P05165	164
PNMA8C	ARHGAP26	Q9UNA1	161
PNMA8C	ABITRAM	Q9NX38	159

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUJ8, A1A5R7, A2CJ06, A7E3N2, B1H224, B8QB46, D3Z8Y2, D3ZSP7, O55036, P0CG32, P54274, P70371, Q14BQ3, Q29RJ0, Q2HJ46, Q2T9U5, Q3TTP0, Q4R8X0, Q4R9F7, Q4VA55, Q5DTT8, Q5RBH9, Q5TKR9, Q5U310, Q5ZIX8, Q6DJS0, Q6ZQF7, Q71M44, Q7Z2W4, Q7Z7J5, Q80VH0, Q80VM8, Q8BMD7, Q8BZ21, Q8CCG4, Q8CDN1, Q8JZW8, Q8ND61, Q8TE76, Q8VD24

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1327 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:46428277:A:G	I28T	0.993
19:46428080:A:G	W94R	0.992
19:46428080:A:T	W94R	0.992
19:46428268:A:G	I31T	0.992
19:46428198:G:C	F54L	0.990
19:46428198:G:T	F54L	0.990
19:46428200:A:G	F54L	0.990
19:46428277:A:C	I28S	0.990
19:46428078:C:A	W94C	0.989
19:46428078:C:G	W94C	0.989
19:46428145:A:T	I72N	0.988
19:46428039:G:C	F107L	0.987
19:46428039:G:T	F107L	0.987
19:46428041:A:G	F107L	0.987
19:46428151:G:T	A70D	0.987
19:46428328:A:G	L11S	0.987
19:46428019:A:G	F114S	0.985
19:46428145:A:C	I72S	0.985
19:46428018:A:C	F114L	0.984
19:46428018:A:T	F114L	0.984
19:46428020:A:G	F114L	0.984
19:46428109:G:T	P84H	0.983
19:46428145:A:G	I72T	0.983
19:46428268:A:C	I31S	0.983
19:46428277:A:T	I28N	0.983
19:46428152:C:G	A70P	0.982
19:46428280:A:G	M27T	0.982
19:46428040:A:G	F107S	0.981
19:46428217:A:T	L48H	0.981
19:46428148:A:C	I71S	0.977

dbSNP variants (sampled 300 via entrez): RS1000765817 (19:46425825 G>T), RS1000801502 (19:46425309 G>A), RS1000836047 (19:46424539 C>G,T), RS1001150422 (19:46425422 T>C), RS1001816820 (19:46429652 C>A), RS1001940082 (19:46425474 G>A,C), RS1002142509 (19:46430801 C>G), RS1002200755 (19:46429398 C>T), RS1002211831 (19:46429103 GAAT>G), RS1002790664 (19:46428620 G>A,T), RS1002822013 (19:46428410 T>C,G), RS1002876450 (19:46425912 C>G), RS1003201789 (19:46427871 G>A,C), RS1003879912 (19:46424414 T>C,G), RS1004098672 (19:46430562 T>C)

Disease associations

OMIM: gene MIM:620934 | 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)

Clinical trials (associated diseases)

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