NPIPB7

Summary

NPIPB7 (nuclear pore complex interacting protein family member B7, HGNC:33832) is a protein-coding gene on chromosome 16p12.1, encoding Nuclear pore complex-interacting protein family member B7 (O75200).

Predicted to be located in extracellular region.

Source: NCBI Gene 440350 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001396030

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33832
Approved symbol	NPIPB7
Name	nuclear pore complex interacting protein family member B7
Location	16p12.1
Locus type	gene with protein product
Status	Approved
Aliases	LOC440350
Ensembl gene	ENSG00000233232
Ensembl biotype	protein_coding
Entrez	440350

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000435324, ENST00000452313, ENST00000652214, ENST00000918541

RefSeq mRNA: 1 — MANE Select: NM_001396030 NM_001396030

CCDS: CCDS92130

Canonical transcript exons

ENST00000452313 — 7 exons

Exon	Start	End
ENSE00001603851	28462982	28463081
ENSE00001687749	28462674	28462869
ENSE00001698437	28466720	28466902
ENSE00001786474	28458531	28458591
ENSE00001804430	28458386	28458421
ENSE00003978347	28470373	28472336
ENSE00003978348	28456329	28457026

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.14.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	93.14	gold quality
right testis	UBERON:0004534	92.92	gold quality
testis	UBERON:0000473	92.39	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.33	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.88	gold quality
cerebellar hemisphere	UBERON:0002245	81.26	gold quality
cerebellar cortex	UBERON:0002129	81.24	gold quality
cerebellum	UBERON:0002037	81.21	gold quality
monocyte	CL:0000576	75.01	gold quality
left ovary	UBERON:0002119	74.38	gold quality
right ovary	UBERON:0002118	73.98	gold quality
ovary	UBERON:0000992	73.80	gold quality
colonic epithelium	UBERON:0000397	73.77	gold quality
right uterine tube	UBERON:0001302	73.38	gold quality
leukocyte	CL:0000738	73.26	gold quality
skin of leg	UBERON:0001511	72.97	gold quality
mucosa of transverse colon	UBERON:0004991	72.91	gold quality
granulocyte	CL:0000094	72.89	gold quality
skeletal muscle tissue	UBERON:0001134	72.42	gold quality
right frontal lobe	UBERON:0002810	72.31	gold quality
apex of heart	UBERON:0002098	72.29	gold quality
muscle layer of sigmoid colon	UBERON:0035805	72.18	gold quality
primary visual cortex	UBERON:0002436	72.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.02	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	72.01	gold quality
lower esophagus	UBERON:0013473	71.97	gold quality
zone of skin	UBERON:0000014	71.81	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.66	gold quality
transverse colon	UBERON:0001157	71.48	gold quality
stromal cell of endometrium	CL:0002255	71.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.86

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), NPIPA8 (ENSG00000214940), NPIPA7 (ENSG00000214967), NPIPA3 (ENSG00000224712), NPIPA9 (ENSG00000233024), NPIPB2 (ENSG00000234719), NPIPB5 (ENSG00000243716), NPIPB11 (ENSG00000254206), NPIPA2 (ENSG00000254852), NPIPB8 (ENSG00000255524)

Protein

Protein identifiers

Nuclear pore complex-interacting protein family member B7 — O75200 (reviewed: O75200)

Alternative names: Nuclear pore complex-interacting protein-like 1

All UniProt accessions (3): A0A494C1T1, I3L0I5, O75200

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the NPIP family.

RefSeq proteins (1): NP_001382959* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009443	NPIP	Family
IPR054697	NPIP_N	Domain

Pfam: PF06409

UniProt features (8 total): compositionally biased region 3, region of interest 2, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75200-F1	53.46	0.01

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 111

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): chr16p12, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

792 predictions. Top by Δscore:

Variant	Effect	Δscore
16:28458529:A:AC	donor_gain	1.0000
16:28458530:C:CC	donor_gain	1.0000
16:28462672:A:AC	donor_gain	1.0000
16:28462673:C:CC	donor_gain	1.0000
16:28462976:CCATA:C	donor_loss	1.0000
16:28462977:CATAC:C	donor_loss	1.0000
16:28462978:ATACC:A	donor_loss	1.0000
16:28462979:TA:T	donor_loss	1.0000
16:28462980:A:AT	donor_loss	1.0000
16:28462981:CCTTT:C	donor_gain	1.0000
16:28463079:CAC:C	acceptor_gain	1.0000
16:28463081:CCTA:C	acceptor_loss	1.0000
16:28463082:C:CA	acceptor_loss	1.0000
16:28466718:A:AC	donor_gain	1.0000
16:28466719:C:CC	donor_gain	1.0000
16:28466719:CA:C	donor_gain	1.0000
16:28462690:T:TA	donor_gain	0.9900
16:28462868:CCCT:C	acceptor_gain	0.9900
16:28462869:CCT:C	acceptor_gain	0.9900
16:28462871:T:C	acceptor_gain	0.9900
16:28463077:GACAC:G	acceptor_gain	0.9900
16:28463082:C:CC	acceptor_gain	0.9900
16:28466711:TATAC:T	donor_loss	0.9900
16:28466712:ATACT:A	donor_loss	0.9900
16:28466713:TAC:T	donor_loss	0.9900
16:28466714:AC:A	donor_loss	0.9900
16:28466715:CT:C	donor_loss	0.9900
16:28466716:T:TG	donor_loss	0.9900
16:28466718:AC:A	donor_loss	0.9900
16:28466719:CACA:C	donor_gain	0.9900

AlphaMissense

2698 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:28458582:A:C	F185L	0.966
16:28458582:A:T	F185L	0.966
16:28458584:A:G	F185L	0.966
16:28462823:A:C	F132L	0.952
16:28462823:A:T	F132L	0.952
16:28462825:A:G	F132L	0.952
16:28466768:A:C	F67L	0.950
16:28466768:A:T	F67L	0.950
16:28466770:A:G	F67L	0.950
16:28466858:A:C	F37L	0.939
16:28466858:A:T	F37L	0.939
16:28466860:A:G	F37L	0.939
16:28470394:A:C	F15L	0.926
16:28470394:A:T	F15L	0.926
16:28470396:A:G	F15L	0.926
16:28458420:A:G	I203T	0.886
16:28463058:G:C	F91L	0.868
16:28463058:G:T	F91L	0.868
16:28463060:A:G	F91L	0.868
16:28458565:A:G	L191S	0.867
16:28456949:T:A	K240N	0.853
16:28456949:T:G	K240N	0.853
16:28457018:C:A	M217I	0.847
16:28457018:C:G	M217I	0.847
16:28457018:C:T	M217I	0.847
16:28470424:A:C	F5L	0.831
16:28470424:A:T	F5L	0.831
16:28470426:A:G	F5L	0.831
16:28458559:C:G	R193P	0.830
16:28462841:C:A	K126N	0.830

dbSNP variants (sampled 300 via entrez): RS1000117741 (16:28462274 G>T), RS1000423842 (16:28463590 G>T), RS1002088630 (16:28472784 G>A,T), RS1002177966 (16:28460726 G>A), RS1002544742 (16:28473218 C>T), RS1003552009 (16:28472174 A>G), RS1003573874 (16:28471943 T>C), RS1004016453 (16:28463694 C>G,T), RS1004198065 (16:28462194 T>C,G), RS1004311097 (16:28465030 C>T), RS1005022108 (16:28459050 A>G,T), RS1005023583 (16:28472674 C>G), RS1005324889 (16:28460617 G>A,C,T), RS1005400686 (16:28472908 A>G), RS1005569273 (16:28474321 G>A)

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

13 associations (top):

Study	Trait	p-value
GCST004131_83	Inflammatory bowel disease	2.000000e-12
GCST004132_69	Crohn’s disease	3.000000e-10
GCST004863_75	Mosquito bite size	5.000000e-09
GCST009371_2	Bipolar disorder or body mass index	1.000000e-24
GCST010002_111	Refractive error	3.000000e-09
GCST010133_15	Lamb consumption	3.000000e-08
GCST010577_14	Crohn’s disease	2.000000e-06
GCST010703_152	Brain morphology (MOSTest)	3.000000e-09
GCST012020_147	Serum metabolite levels	2.000000e-51
GCST012020_152	Serum metabolite levels	1.000000e-45
GCST012020_153	Serum metabolite levels	9.000000e-73
GCST012021_77	Serum metabolite levels	1.000000e-45
GCST012021_78	Serum metabolite levels	9.000000e-73

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008378	mosquito bite reaction size measurement
EFO:0004340	body mass index
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

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
bisphenol F	affects cotreatment, decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Estradiol	affects expression	1
Formaldehyde	decreases expression	1
Indomethacin	decreases expression, affects cotreatment	1
1-Methyl-3-isobutylxanthine	decreases expression, affects cotreatment	1
S-Nitrosoglutathione	affects expression	1

Clinical trials (associated diseases)

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