NPIPA8

Summary

NPIPA8 (nuclear pore complex interacting protein family member A8, HGNC:41983) is a protein-coding gene on chromosome 16p12.3, encoding Nuclear pore complex-interacting protein family member A8 (P0DM63).

At a glance

• GWAS associations: 2
• MANE Select transcript: NM_001282511

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:41983
Approved symbol	NPIPA8
Name	nuclear pore complex interacting protein family member A8
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Aliases	LCR16a9
Ensembl gene	ENSG00000214940
Ensembl biotype	protein_coding
Entrez	101059953

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000525596, ENST00000541810, ENST00000545050

RefSeq mRNA: 1 — MANE Select: NM_001282511 NM_001282511

CCDS: CCDS61865

Canonical transcript exons

ENST00000525596 — 10 exons

Exon	Start	End
ENSE00002159500	18336634	18336736
ENSE00002177936	18332600	18332731
ENSE00002180400	18319940	18320000
ENSE00002195377	18321017	18321124
ENSE00002237021	18334711	18334967
ENSE00003570303	18319795	18319830
ENSE00003619785	18324091	18324235
ENSE00003622732	18328114	18328242
ENSE00003644022	18324399	18324498
ENSE00003978310	18317919	18318435

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 90.76.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	90.76	gold quality
sural nerve	UBERON:0015488	87.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.58	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.29	gold quality
superior frontal gyrus	UBERON:0002661	82.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.09	gold quality
cerebellum	UBERON:0002037	79.29	gold quality
cerebellar cortex	UBERON:0002129	79.21	gold quality
cerebellar hemisphere	UBERON:0002245	78.85	gold quality
stromal cell of endometrium	CL:0002255	78.64	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	77.39	gold quality
right adrenal gland cortex	UBERON:0035827	77.34	gold quality
left uterine tube	UBERON:0001303	76.52	gold quality
right ovary	UBERON:0002118	75.77	gold quality
ganglionic eminence	UBERON:0004023	75.44	gold quality
endocervix	UBERON:0000458	73.75	gold quality
adenohypophysis	UBERON:0002196	73.49	gold quality
right adrenal gland	UBERON:0001233	73.34	gold quality
cortical plate	UBERON:0005343	73.20	gold quality
lower esophagus	UBERON:0013473	72.00	gold quality
lower esophagus mucosa	UBERON:0035834	72.00	gold quality
lower esophagus muscularis layer	UBERON:0035833	71.76	gold quality
tibial artery	UBERON:0007610	71.21	gold quality
popliteal artery	UBERON:0002250	71.09	gold quality
ventricular zone	UBERON:0003053	70.99	gold quality
primary visual cortex	UBERON:0002436	70.87	gold quality
muscle layer of sigmoid colon	UBERON:0035805	70.50	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	70.44	gold quality
skeletal muscle tissue	UBERON:0001134	70.41	gold quality
fallopian tube	UBERON:0003889	70.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.85

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (19): NPIPB12 (ENSG00000169203), NPIPB3 (ENSG00000169246), NPIPA1 (ENSG00000183426), NPIPA5 (ENSG00000183793), NPIPA6 (ENSG00000183889), NPIPB4 (ENSG00000185864), NPIPB15 (ENSG00000196436), NPIPB9 (ENSG00000196993), NPIPB13 (ENSG00000198064), NPIPB6 (ENSG00000198156), NPIPA7 (ENSG00000214967), NPIPA3 (ENSG00000224712), NPIPA9 (ENSG00000233024), NPIPB7 (ENSG00000233232), NPIPB2 (ENSG00000234719), NPIPB5 (ENSG00000243716), NPIPB11 (ENSG00000254206), NPIPA2 (ENSG00000254852), NPIPB8 (ENSG00000255524)

Protein

Protein identifiers

Nuclear pore complex-interacting protein family member A8 — P0DM63 (reviewed: P0DM63)

All UniProt accessions (2): P0DM63, H0YFN8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the NPIP family.

RefSeq proteins (1): NP_001269440* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009443	NPIP	Family
IPR054697	NPIP_N	Domain

Pfam: PF06409

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DM63-F1	51.78	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): chr16p12, HE_LIM_SUN_FETAL_LUNG_C3_OMD_POS_ENDOTHELIAL_CELL

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

BioGRID (1): NPIPA7 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0B4J1W7, A0A7H0DN35, A4QN01, A6NHN6, A6NJ64, A8MQ11, E9PIF3, E9PJ23, E9PJI5, E9PKD4, E9PQR5, F5HGC2, F8W1W9, F8WFD2, O75200, O83374, P05913, P06486, P07396, P0C7Q2, P0CK47, P0CK48, P0DM63, P0DXC3, P15489, P16765, P16802, P20969, P36443, P38900, P47003, P68341, P68454, P68455, P87191, P92537, P92561, Q03418, Q32M92, Q4ZGE2

Diamond homologs: A0A0B4J1W7, A6NHN6, A6NJ64, A6NJU9, A8MRT5, C9JG80, E5RHQ5, E9PIF3, E9PJ23, E9PJI5, E9PKD4, E9PQR5, F8W0I5, F8W1W9, F8WFD2, O75200, P0DM63, P0DXC3, Q92617, Q9UND3, O70490, Q08AH1, Q08AH3, Q3UNX5, Q53FZ2, Q5REV5, Q68CK6, Q6AYT9, Q6NUN0, Q6SKG1, Q8BGA8, Q8K0L3, Q91VA0, Q9BEA2

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

2399 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:18319991:A:C	F185L	0.964
16:18319991:A:T	F185L	0.964
16:18319993:A:G	F185L	0.964
16:18328198:A:C	F36L	0.950
16:18328198:A:T	F36L	0.950
16:18328200:A:G	F36L	0.950
16:18328162:A:C	F48L	0.943
16:18328162:A:T	F48L	0.943
16:18328164:A:G	F48L	0.943
16:18324207:A:C	F107L	0.929
16:18324207:A:T	F107L	0.929
16:18324209:A:G	F107L	0.929
16:18324490:G:C	F67L	0.925
16:18324490:G:T	F67L	0.925
16:18324492:A:G	F67L	0.925
16:18321029:A:G	I178T	0.903
16:18328144:A:C	F54L	0.881
16:18328144:A:T	F54L	0.881
16:18328146:A:G	F54L	0.881
16:18328185:A:G	W41R	0.871
16:18328185:A:T	W41R	0.871
16:18319829:A:G	I203T	0.867
16:18319940:T:A	K202N	0.855
16:18319940:T:G	K202N	0.855
16:18318427:C:A	M217I	0.849
16:18318427:C:G	M217I	0.849
16:18318427:C:T	M217I	0.849
16:18324108:C:A	R140S	0.831
16:18324108:C:G	R140S	0.831
16:18328123:A:C	S61R	0.830

dbSNP variants (sampled 300 via entrez): RS1000007371 (16:15032331 A>G), RS1000038947 (16:15107822 A>C), RS1000043521 (16:15125949 G>A,T), RS1000050810 (16:15087395 C>A,G), RS1000100096 (16:15051935 T>C), RS1000108886 (16:15129349 G>A), RS1000161706 (16:14924744 T>C), RS1000205622 (16:15122165 AAAACAAAC>A,AAAAC,AAAACAAACAAAC), RS1000220188 (16:15036096 G>C), RS1000263531 (16:15126039 ATT>A,AT,ATTT,ATTTT), RS1000287147 (16:15046029 T>C), RS1000289128 (16:15129222 A>T), RS1000302561 (16:18323862 C>A,G,T), RS1000315977 (16:15111947 CT>C), RS1000321322 (16:15082206 T>C)

Disease associations

OMIM: gene `` | 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
GCST007327_198	Smoking status (ever vs never smokers)	3.000000e-11
GCST011703_23	Smoking initiation	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0005670	smoking initiation

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
chromium hexavalent ion	increases expression	1
ortho-topolin riboside	affects cotreatment, increases expression	1
Cadmium	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Melatonin	affects cotreatment, increases expression	1
Tretinoin	decreases expression	1
Aflatoxin M1	increases expression	1
Cadmium Chloride	increases abundance, decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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