NUFIP2

Summary

NUFIP2 (nuclear FMR1 interacting protein 2, HGNC:17634) is a protein-coding gene on chromosome 17q11.2, encoding FMR1-interacting protein NUFIP2 (Q7Z417). Binds RNA.

Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome.

Source: NCBI Gene 57532 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 122 total
• MANE Select transcript: NM_020772

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17634
Approved symbol	NUFIP2
Name	nuclear FMR1 interacting protein 2
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP, NUFP2
Ensembl gene	ENSG00000108256
Ensembl biotype	protein_coding
OMIM	609356
Entrez	57532

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000225388, ENST00000579665, ENST00000934592, ENST00000934593

RefSeq mRNA: 1 — MANE Select: NM_020772 NM_020772

CCDS: CCDS32600

Canonical transcript exons

ENST00000225388 — 4 exons

Exon	Start	End
ENSE00000707489	29285992	29287716
ENSE00001053085	29255839	29264591
ENSE00001053086	29267498	29267530
ENSE00002684656	29293783	29294148

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 96.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 172.9303 / max 2368.7097, expressed in 1828 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165142	108.7001	1824
165143	64.0269	1823
165144	0.2033	98

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	96.69	gold quality
caput epididymis	UBERON:0004358	96.37	gold quality
corpus epididymis	UBERON:0004359	96.31	gold quality
cauda epididymis	UBERON:0004360	96.27	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.17	silver quality
secondary oocyte	CL:0000655	96.09	gold quality
tibialis anterior	UBERON:0001385	95.90	gold quality
trabecular bone tissue	UBERON:0002483	95.47	gold quality
epithelial cell of pancreas	CL:0000083	95.39	gold quality
ileal mucosa	UBERON:0000331	94.81	gold quality
deltoid	UBERON:0001476	94.74	gold quality
left ventricle myocardium	UBERON:0006566	94.25	gold quality
calcaneal tendon	UBERON:0003701	94.09	gold quality
adrenal tissue	UBERON:0018303	93.89	gold quality
placenta	UBERON:0001987	93.61	gold quality
endothelial cell	CL:0000115	93.59	gold quality
bone element	UBERON:0001474	93.39	gold quality
tibia	UBERON:0000979	93.10	gold quality
oviduct epithelium	UBERON:0004804	92.98	gold quality
sural nerve	UBERON:0015488	92.84	gold quality
upper arm skin	UBERON:0004263	92.81	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.75	gold quality
bone marrow	UBERON:0002371	92.70	gold quality
esophagus squamous epithelium	UBERON:0006920	92.59	gold quality
visceral pleura	UBERON:0002401	92.55	gold quality
oral cavity	UBERON:0000167	92.52	gold quality
thymus	UBERON:0002370	92.40	gold quality
superficial temporal artery	UBERON:0001614	92.29	gold quality
skin of hip	UBERON:0001554	92.25	gold quality
palpebral conjunctiva	UBERON:0001812	91.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.44
E-MTAB-7303	no	193.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

695 targeting NUFIP2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833

Literature-anchored findings (GeneRIF, showing 3)

• identification and characterization of FIP-82, a novel FMRP-interacting protein associated to polyribosomes as a component of mRNP complexes containing FMRP (PMID:12837692)
• Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA. (PMID:29352114)
• FMRP phosphorylation modulates neuronal translation through YTHDF1. (PMID:37949069)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Nufip2	ENSMUSG00000037857
rattus_norvegicus	Nufip2	ENSRNOG00000024964

Protein

Protein identifiers

FMR1-interacting protein NUFIP2 — Q7Z417 (reviewed: Q7Z417)

Alternative names: 82 kDa FMRP-interacting protein, Cell proliferation-inducing gene 1 protein, FMRP-interacting protein 2, Nuclear FMR1-interacting protein 2

All UniProt accessions (1): Q7Z417

UniProt curated annotations — full annotation on UniProt →

Function. Binds RNA.

Subunit / interactions. Interacts with FMR1 (via N-terminus). Interacts with DDX6.

Subcellular location. Nucleus. Cytoplasm. Stress granule.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z417-1	1	yes
Q7Z417-2	2

RefSeq proteins (1): NP_065823* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032747	NUFIP2	Family

Pfam: PF15293

UniProt features (44 total): modified residue 21, cross-link 10, compositionally biased region 6, region of interest 5, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z417-F1	48.26	0.04

Functional residue map

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

Post-translational modifications (31): 87, 112, 113, 212, 214, 218, 219, 220, 291, 304, 376, 571, 572, 592, 608, 629, 633, 637, 652, 655 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 437 (showing top): RNGTGGGC_UNKNOWN, E2F_Q4, GGTGTGT_MIR329, PAX4_01, E2F4DP1_01, CMYB_01, TGACCTY_ERR1_Q2, TAL1ALPHAE47_01, GGGTGGRR_PAX4_03, chr17q11, AACWWCAANK_UNKNOWN, CCANNAGRKGGC_UNKNOWN, GGGCATT_MIR365, NKX62_Q2, E2F1DP1_01

GO Biological Process (0):

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), cytoplasmic stress granule (GO:0010494), membrane (GO:0016020), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membraneless organelle	2
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
cytoplasmic ribonucleoprotein granule	1
nucleoplasm	1

Protein interactions and networks

STRING

1610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUFIP2	FMR1	Q06787	981
NUFIP2	NUFIP1	Q9UHK0	939
NUFIP2	FXR2	P51116	851
NUFIP2	FXR1	P51114	846
NUFIP2	CYFIP2	Q96F07	835
NUFIP2	CYFIP1	Q7L576	834
NUFIP2	FAM98A	Q8NCA5	647
NUFIP2	G3BP2	Q9UN86	616
NUFIP2	RC3H1	Q5TC82	604
NUFIP2	KCNG1	Q9UIX4	578
NUFIP2	LSM14B	Q9BX40	575
NUFIP2	G3BP1	Q13283	571
NUFIP2	KCNF1	Q9H3M0	554
NUFIP2	EDC4	Q6P2E9	503
NUFIP2	LSM14A	Q8ND56	503

IntAct

464 interactions, top by confidence:

A	B	Type	Score
NUFIP2	FBLN5	psi-mi:“MI:0915”(physical association)	0.800
GRN	NUFIP2	psi-mi:“MI:0915”(physical association)	0.780
EFEMP2	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	KRTAP4-12	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	KRTAP3-2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP5-6	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP4-11	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP4-2	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-9	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP4-12	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP9-2	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	EFEMP2	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (538): NUFIP2 (Two-hybrid), NUFIP2 (Two-hybrid), NUFIP2 (Two-hybrid), NUFIP2 (Two-hybrid), NUFIP2 (Two-hybrid), NUFIP2 (Two-hybrid), KRTAP4-12 (Two-hybrid), KRTAP3-2 (Two-hybrid), KRTAP9-2 (Two-hybrid), KRTAP9-4 (Two-hybrid), KRTAP4-2 (Two-hybrid), KRTAP3-3 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-5 (Two-hybrid)

ESM2 similar proteins: A7XYH5, B2RRE7, G5CEW6, O15014, O15265, Q01804, Q0JDM0, Q0P5K1, Q14966, Q3KR53, Q3UHI0, Q3UHK8, Q56A10, Q5F2E7, Q5R4E9, Q5R9C3, Q5ZM88, Q61464, Q6AI39, Q6IMN6, Q6NXH3, Q6NZP2, Q6ZQ03, Q76L83, Q7TPM1, Q7Z417, Q80WJ7, Q86UE4, Q86WP2, Q8BKI2, Q8BZ47, Q8IH18, Q8IZQ8, Q8N3X1, Q8NDV7, Q8SY33, Q93ZJ9, Q9C658, Q9D0P5, Q9ESC8

Diamond homologs: Q5F2E7, Q7Z417

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	30	25.7×	3e-33

GO biological processes:

GO term	Partners	Fold	FDR
hair cycle	5	75.5×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	93
Likely benign	17
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

711 predictions. Top by Δscore:

Variant	Effect	Δscore
17:29264416:AT:A	donor_gain	1.0000
17:29267493:CTTAC:C	donor_loss	1.0000
17:29267494:TTAC:T	donor_loss	1.0000
17:29267496:A:T	donor_loss	1.0000
17:29267497:C:CA	donor_loss	1.0000
17:29267528:TTT:T	acceptor_gain	1.0000
17:29267528:TTTCT:T	acceptor_loss	1.0000
17:29267529:TT:T	acceptor_gain	1.0000
17:29267530:TCTG:T	acceptor_loss	1.0000
17:29267531:C:CC	acceptor_gain	1.0000
17:29267531:C:T	acceptor_loss	1.0000
17:29287713:TAGC:T	acceptor_gain	1.0000
17:29287714:AGCCT:A	acceptor_loss	1.0000
17:29287715:GCC:G	acceptor_loss	1.0000
17:29287717:CTAGG:C	acceptor_loss	1.0000
17:29287718:T:G	acceptor_loss	1.0000
17:29264413:ATTAT:A	donor_gain	0.9900
17:29264417:T:TA	donor_gain	0.9900
17:29264433:A:AC	donor_gain	0.9900
17:29264434:T:C	donor_gain	0.9900
17:29267496:A:AC	donor_gain	0.9900
17:29267497:C:CC	donor_gain	0.9900
17:29267497:CCTTG:C	donor_gain	0.9900
17:29267526:CATTT:C	acceptor_gain	0.9900
17:29267527:ATTT:A	acceptor_gain	0.9900
17:29267532:T:A	acceptor_loss	0.9900
17:29287715:GC:G	acceptor_gain	0.9900
17:29287716:CC:C	acceptor_gain	0.9900
17:29287717:C:CC	acceptor_gain	0.9900
17:29293772:C:CA	donor_gain	0.9900

AlphaMissense

4597 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:29286468:A:G	L509S	1.000
17:29286473:C:A	W507C	1.000
17:29286473:C:G	W507C	1.000
17:29286475:A:G	W507R	1.000
17:29286475:A:T	W507R	1.000
17:29286905:C:A	K363N	1.000
17:29286905:C:G	K363N	1.000
17:29286909:A:T	V362D	1.000
17:29286911:T:A	K361N	1.000
17:29286911:T:G	K361N	1.000
17:29286913:T:C	K361E	1.000
17:29286914:G:C	S360R	1.000
17:29286914:G:T	S360R	1.000
17:29286916:T:G	S360R	1.000
17:29286921:T:C	Y358C	1.000
17:29286922:A:G	Y358H	1.000
17:29286923:A:C	S357R	1.000
17:29286923:A:T	S357R	1.000
17:29286925:T:G	S357R	1.000
17:29286927:A:C	I356R	1.000
17:29286927:A:T	I356K	1.000
17:29286945:G:T	A350D	1.000
17:29286950:G:C	S348R	1.000
17:29286950:G:T	S348R	1.000
17:29286952:T:G	S348R	1.000
17:29286963:G:T	P344Q	1.000
17:29286965:A:C	F343L	1.000
17:29286965:A:T	F343L	1.000
17:29286966:A:C	F343C	1.000
17:29286966:A:G	F343S	1.000

dbSNP variants (sampled 300 via entrez): RS1000085198 (17:29273705 G>T), RS1000165642 (17:29267797 C>T), RS1000375119 (17:29261589 T>C), RS1000398472 (17:29260729 A>G), RS1000496660 (17:29266368 T>C), RS1000582621 (17:29278335 C>A,T), RS1000680709 (17:29290910 A>C), RS1000709280 (17:29260469 G>A,C), RS1000723094 (17:29259540 ACTGT>A), RS1000861706 (17:29267207 C>A,G,T), RS1000883375 (17:29294530 T>C), RS1000970661 (17:29272519 C>A,T), RS1000972688 (17:29266001 G>A,T), RS1001038167 (17:29278171 T>C), RS1001129308 (17:29290614 A>G)

Disease associations

OMIM: gene MIM:609356 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST005337_16	Headache	4.000000e-09
GCST005839_44	Depression	9.000000e-09
GCST006979_811	Heel bone mineral density	1.000000e-11
GCST010243_239	Apolipoprotein B levels	6.000000e-10
GCST010796_913	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_914	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_915	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_916	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_917	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_918	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_919	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_920	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_921	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-10
GCST010796_922	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_923	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_924	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_925	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-10
GCST010796_926	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_927	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_928	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST90000050_74	Age at first birth	3.000000e-08
GCST90002407_127	White blood cell count	5.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004615	apolipoprotein B measurement
EFO:0004327	electrocardiography
EFO:0009101	age at first birth measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, decreases expression	7
sodium arsenite	increases abundance, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression, increases expression	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
tetrahydropalmatine	decreases expression	1
methylparaben	increases expression	1
benzo(e)pyrene	increases methylation	1
coumarin	decreases phosphorylation	1
nivalenol	increases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
PCI 5002	increases expression, affects cotreatment	1
bisphenol AF	increases expression	1
Acetaminophen	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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