NDFIP2

Summary

NDFIP2 (Nedd4 family interacting protein 2, HGNC:18537) is a protein-coding gene on chromosome 13q31.1, encoding NEDD4 family-interacting protein 2 (Q9NV92). Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets.

Enables WW domain binding activity. Involved in negative regulation of transport and regulation of macromolecule metabolic process. Located in several cellular components, including Golgi apparatus; mitochondrion; and perinuclear region of cytoplasm.

Source: NCBI Gene 54602 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_019080

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18537
Approved symbol	NDFIP2
Name	Nedd4 family interacting protein 2
Location	13q31.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1165, N4wbp5a
Ensembl gene	ENSG00000102471
Ensembl biotype	protein_coding
OMIM	610041
Entrez	54602

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 10 protein_coding, 10 nonsense_mediated_decay, 7 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000218652, ENST00000465762, ENST00000487865, ENST00000494647, ENST00000620924, ENST00000650134, ENST00000703119, ENST00000703120, ENST00000703121, ENST00000703122, ENST00000703123, ENST00000703124, ENST00000703125, ENST00000703126, ENST00000703145, ENST00000703146, ENST00000703147, ENST00000703149, ENST00000703150, ENST00000703151, ENST00000703152, ENST00000703153, ENST00000703154, ENST00000703155, ENST00000703156, ENST00000703157, ENST00000703158, ENST00000703159, ENST00000703160, ENST00000703161

RefSeq mRNA: 3 — MANE Select: NM_019080 NM_001161407, NM_001394685, NM_019080

CCDS: CCDS31998

Canonical transcript exons

ENST00000218652 — 8 exons

Exon	Start	End
ENSE00000684824	79520810	79520975
ENSE00000684826	79543558	79543682
ENSE00000802663	79533323	79533456
ENSE00000802664	79539682	79539775
ENSE00000923796	79481155	79481524
ENSE00001472817	79552516	79556077
ENSE00003470694	79548328	79548394
ENSE00003517916	79551017	79551122

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.9681 / max 394.2235, expressed in 1743 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
135546	17.0717	1683
135549	9.5657	1672
135550	6.6971	1559
135545	3.1577	1412
135547	3.0640	1202
135548	1.5193	915
135543	0.3870	158
135551	0.2838	111
135544	0.1573	66
135555	0.0226	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.90	gold quality
upper arm skin	UBERON:0004263	98.64	gold quality
sperm	CL:0000019	98.61	gold quality
epithelial cell of pancreas	CL:0000083	98.27	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.20	gold quality
ileal mucosa	UBERON:0000331	97.98	gold quality
upper leg skin	UBERON:0004262	97.92	gold quality
palpebral conjunctiva	UBERON:0001812	97.80	gold quality
jejunal mucosa	UBERON:0000399	97.64	gold quality
esophagus squamous epithelium	UBERON:0006920	97.50	gold quality
endothelial cell	CL:0000115	97.45	gold quality
pons	UBERON:0000988	97.45	gold quality
germinal epithelium of ovary	UBERON:0001304	97.15	gold quality
postcentral gyrus	UBERON:0002581	96.76	gold quality
skin of hip	UBERON:0001554	96.50	gold quality
parietal lobe	UBERON:0001872	96.48	gold quality
amniotic fluid	UBERON:0000173	96.22	gold quality
superior frontal gyrus	UBERON:0002661	96.12	gold quality
gingival epithelium	UBERON:0001949	95.94	gold quality
colonic mucosa	UBERON:0000317	95.81	gold quality
oocyte	CL:0000023	95.73	gold quality
gingiva	UBERON:0001828	95.69	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.67	gold quality
lateral globus pallidus	UBERON:0002476	95.64	gold quality
rectum	UBERON:0001052	95.50	gold quality
bronchial epithelial cell	CL:0002328	95.32	gold quality
oral cavity	UBERON:0000167	95.31	gold quality
penis	UBERON:0000989	95.26	gold quality
islet of Langerhans	UBERON:0000006	95.25	gold quality
entorhinal cortex	UBERON:0002728	95.25	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	118.82
E-HCAD-8	yes	45.54
E-MTAB-6142	no	268.97
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

214 targeting NDFIP2, 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-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548P	99.98	72.25	3784

Literature-anchored findings (GeneRIF, showing 6)

• role in regulating epithelial sodium channel (PMID:12050153)
• N4WBP5A may play a regulatory role in modulating Nedd4 activity at the level of the Golgi apparatus in T lymphocytes (PMID:12796489)
• N4WBP5A acts as an adaptor to recruit Nedd4 family ubiquitin-protein ligases to the protein trafficking machinery (PMID:15252135)
• Data show that the small PY-containing membrane proteins, NDFIP1 and NDFIP2 (NEDD4 family-interacting proteins), activate the catalytic activity of ITCH and of several other HECT ligases by binding to them. (PMID:19343052)
• PTEN/Akt and MAP kinase signaling pathways are regulated by the ubiquitin ligase activators Ndfip1 and Ndfip2 (PMID:20534535)
• Data show that membrane protein Ndfip1 recruits E3 ubiquitin (Ub) ligase Nedd4-2 to the Golgi to target ether-a-go-go-related gene (hERG) channel for degradation while membrane protein Ndfip2 also mediates Nedd4-2 interaction with hERG in the Golgi. (PMID:26363003)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndfip2	ENSDARG00000033928
mus_musculus	Ndfip2	ENSMUSG00000053253
rattus_norvegicus	Ndfip2	ENSRNOG00000024022
drosophila_melanogaster	Ndfip	FBGN0052177

Paralogs (1): NDFIP1 (ENSG00000131507)

Protein

Protein identifiers

NEDD4 family-interacting protein 2 — Q9NV92 (reviewed: Q9NV92)

Alternative names: NEDD4 WW domain-binding protein 5A, Putative MAPK-activating protein PM04/PM05/PM06/PM07, Putative NF-kappa-B-activating protein 413

All UniProt accessions (17): Q9NV92, A0A0C4DGW0, A0A3B3IRK3, A0A8V8TQ43, A0A8V8TQ57, A0A8V8TQ62, A0A8V8TQM3, A0A8V8TQN2, A0A8V8TQN7, A0A8V8TQP7, A0A8V8TQQ2, A0A8V8TR80, A0A8V8TRG3, A0A8V8TRH3, A0A8V8TRH4, B4DGY6, H7C5F7

UniProt curated annotations — full annotation on UniProt →

Function. Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus and multivesicular body where it mediates KCNH2 degradation. May modulate EGFR signaling. Together with NDFIP1, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination.

Subunit / interactions. Forms heterodimers with NDFIP1. Interacts with HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4. Interacts with NEDD4L. Interacts with PTEN. When phosphorylated at Tyr-167, interacts with SRC and LYN SH2 domain. May thus act as a scaffold that recruits SRC to NDFIP1, enhancing NDFIP1 phosphorylation. Interacts with SLC11A2/DMT1. May interact with phosphorylated EGFR. Interacts with KCNH2.

Subcellular location. Endosome membrane. Golgi apparatus membrane. Endosome. Multivesicular body membrane.

Tissue specificity. Expressed in brain, lung, heart, skeletal muscle, kidney, liver and placenta.

Post-translational modifications. Ubiquitinated by NEDD4 and ITCH. Also ubiquitinated by NEDD4L. Ubiquitination by NEDD4 or NEDD4L does not affect turnover. Undergoes transient tyrosine-phosphorylation following EGF stimulation, most probably catalyzed by SRC. Phosphorylation on Tyr-151, Tyr-171 and Tyr-177 are dependent on the phosphorylation on Tyr-167. Also phosphorylated by LYN and FYN.

Domain organisation. The PPxY motifs are required for E3 ubiquitin-protein ligase activation and for ubiquitination.

Induction. By T-cell activation.

RefSeq proteins (3): NP_001154879, NP_001381614, NP_061953* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019325	NEDD4/Bsd2	Family

Pfam: PF10176

UniProt features (27 total): topological domain 4, modified residue 4, mutagenesis site 4, region of interest 3, short sequence motif 3, transmembrane region 3, compositionally biased region 2, sequence variant 2, chain 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NV92-F1	57.15	0.07

Functional residue map

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

Catalytic / active sites (1): 186 (not phosphorylated by src)

Post-translational modifications (4): 151, 167, 171, 177

Mutagenesis-validated functional residues (4):

Position	Phenotype
150–151	loss of e3 ubiquitin-protein ligase activation; when associated with 175-p–g-177 and 184-p–g-186. greatly decreases ne
167	loss of ndfip2 phosphorylation by src.
176–177	loss of e3 ubiquitin-protein ligase activation; when associated with 149-p–g-151 and 184-p–g-186. greatly decreases ne
185–186	loss of e3 ubiquitin-protein ligase activation; when associated with 149-p–g-151 and 175-p–g-177. greatly decreases ne

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 222 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, AAGCCAT_MIR135A_MIR135B, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_VACUOLAR_TRANSPORT, CHANDRAN_METASTASIS_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, SANSOM_APC_TARGETS_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GCM_MAPK10

GO Biological Process (9): ubiquitin-dependent protein catabolic process (GO:0006511), vacuolar transport (GO:0007034), metal ion transport (GO:0030001), positive regulation of protein ubiquitination (GO:0031398), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of gene expression (GO:0010629), negative regulation of transporter activity (GO:0032410), negative regulation of protein transport (GO:0051224)

GO Molecular Function (2): WW domain binding (GO:0050699), protein binding (GO:0005515)

GO Cellular Component (10): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), multivesicular body membrane (GO:0032585), perinuclear region of cytoplasm (GO:0048471), endosome (GO:0005768), endosome membrane (GO:0010008), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
cellular anatomical structure	3
intracellular membrane-bounded organelle	3
endomembrane system	3
protein ubiquitination	2
negative regulation of transport	2
bounding membrane of organelle	2
modification-dependent protein catabolic process	1
intracellular transport	1
monoatomic cation transport	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	1
transporter activity	1
negative regulation of molecular function	1
protein transport	1
regulation of protein transport	1
negative regulation of protein localization	1
negative regulation of establishment of protein localization	1
protein domain specific binding	1
binding	1
Golgi apparatus	1
intracellular anatomical structure	1
multivesicular body	1
late endosome membrane	1
cytoplasmic vesicle	1
endosome	1
cytoplasmic vesicle membrane	1

Protein interactions and networks

STRING

857 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NDFIP2	NEDD4	P46934	988
NDFIP2	NEDD4L	Q96PU5	849
NDFIP2	WWP2	O00308	727
NDFIP2	WWP1	Q9H0M0	542
NDFIP2	PTEN	P60484	536
NDFIP2	BCAP29	Q9UHQ4	523
NDFIP2	SLC11A2	P49281	513
NDFIP2	TLE1	Q04724	503
NDFIP2	NFATC2	Q13469	496
NDFIP2	F2RL1	P55085	484
NDFIP2	TLE5	Q08117	476
NDFIP2	SLC11A1	P49279	471
NDFIP2	SMURF2	Q9HAU4	469
NDFIP2	CBL	P22681	463
NDFIP2	TLE3	Q04726	456

IntAct

41 interactions, top by confidence:

A	B	Type	Score
UQCRH	NDFIP2	psi-mi:“MI:0915”(physical association)	0.560
NDFIP2	SMN1	psi-mi:“MI:0915”(physical association)	0.560
TSPAN3	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.530
	UBXN8	psi-mi:“MI:0914”(association)	0.530
MFSD4A	HIP1R	psi-mi:“MI:0914”(association)	0.530
YAP1	NDFIP2	psi-mi:“MI:0407”(direct interaction)	0.440
MLH1	NDFIP2	psi-mi:“MI:0915”(physical association)	0.370
SDHA	HMGB3	psi-mi:“MI:0914”(association)	0.350
FAM8A1	SDCBP	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
KCNK18	TMEM223	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
WWP2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
FAM168A	CCDC85C	psi-mi:“MI:0914”(association)	0.350
DGCR2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
RNF149	CCDC85C	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
TBXA2R	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
EDAR	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
MARCHF1	STXBP3	psi-mi:“MI:0914”(association)	0.350
TMEM231	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
WWP1	TP73	psi-mi:“MI:0914”(association)	0.350
NDFIP2	NEDD4	psi-mi:“MI:0914”(association)	0.350

BioGRID (94): NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-MS), NDFIP2 (Affinity Capture-RNA), NDFIP2 (Two-hybrid), NDFIP2 (Affinity Capture-Western), NDFIP2 (Affinity Capture-RNA), NEDD4 (Reconstituted Complex), NEDD4 (Affinity Capture-Western), NDFIP2 (PCA)

ESM2 similar proteins: A0A482PJY4, A2AH22, A3KPW9, A4IH17, A5D9M6, A7X5R6, A8Y4B2, B3P4M4, B4HJA7, B4KCG1, B4N8G7, B4PVI7, B4QVV3, E7FAG6, O22197, O74757, P0CH30, P32628, P32828, P38428, P46379, Q09463, Q0II22, Q20798, Q3KPV4, Q68FU0, Q6DIP3, Q6FS98, Q6IRP0, Q6MG49, Q6P135, Q6PA26, Q6PC78, Q7T0Q3, Q8LPN7, Q91W67, Q91YL2, Q94AK4, Q96S82, Q9BV68

Diamond homologs: Q4V786, Q5U2S1, Q6DGP4, Q6GLN5, Q8R0W6, Q91ZP6, Q9BT67, Q9NV92

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NDFIP2	“down-regulates activity”	NEDD4	relocalization
NDFIP2	“up-regulates activity”	NEDD4	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1812 predictions. Top by Δscore:

Variant	Effect	Δscore
13:79506220:G:GG	donor_gain	1.0000
13:79520799:T:A	acceptor_gain	1.0000
13:79520804:TCTTA:T	acceptor_gain	1.0000
13:79520805:CTTA:C	acceptor_loss	1.0000
13:79520805:CTTAG:C	acceptor_gain	1.0000
13:79520806:TTAGC:T	acceptor_gain	1.0000
13:79520807:TAGCT:T	acceptor_gain	1.0000
13:79520808:A:AC	acceptor_loss	1.0000
13:79520808:A:AG	acceptor_gain	1.0000
13:79520808:AGC:A	acceptor_gain	1.0000
13:79520809:G:GA	acceptor_gain	1.0000
13:79520809:G:T	acceptor_gain	1.0000
13:79520809:GC:G	acceptor_gain	1.0000
13:79520809:GCT:G	acceptor_gain	1.0000
13:79520809:GCTT:G	acceptor_gain	1.0000
13:79520809:GCTTC:G	acceptor_gain	1.0000
13:79520955:TGG:T	donor_gain	1.0000
13:79520957:G:GT	donor_gain	1.0000
13:79520971:TTCAG:T	donor_loss	1.0000
13:79520972:TCAGG:T	donor_loss	1.0000
13:79520976:GT:G	donor_loss	1.0000
13:79520977:T:G	donor_loss	1.0000
13:79533319:TCAG:T	acceptor_loss	1.0000
13:79533320:CAG:C	acceptor_loss	1.0000
13:79533321:A:AG	acceptor_gain	1.0000
13:79533322:G:GA	acceptor_gain	1.0000
13:79533452:AAAGA:A	donor_gain	1.0000
13:79533453:AAGA:A	donor_gain	1.0000
13:79533454:AGA:A	donor_gain	1.0000
13:79533454:AGAGT:A	donor_loss	1.0000

AlphaMissense

2178 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:79543574:C:A	N244K	1.000
13:79543574:C:G	N244K	1.000
13:79543630:G:A	G263D	1.000
13:79543642:G:A	G267E	1.000
13:79543665:T:A	W275R	1.000
13:79543665:T:C	W275R	1.000
13:79533391:T:C	Y186H	0.999
13:79539743:G:A	G228E	0.999
13:79539757:T:C	F233L	0.999
13:79539758:T:C	F233S	0.999
13:79539759:C:A	F233L	0.999
13:79539759:C:G	F233L	0.999
13:79539769:T:C	F237L	0.999
13:79539771:T:A	F237L	0.999
13:79539771:T:G	F237L	0.999
13:79543575:T:A	W245R	0.999
13:79543575:T:C	W245R	0.999
13:79543581:G:A	G247R	0.999
13:79543581:G:C	G247R	0.999
13:79543582:G:A	G247E	0.999
13:79543585:T:C	F248S	0.999
13:79543587:T:C	C249R	0.999
13:79543612:C:T	T257I	0.999
13:79543618:C:A	A259D	0.999
13:79543629:G:C	G263R	0.999
13:79543629:G:T	G263C	0.999
13:79543630:G:T	G263V	0.999
13:79543638:T:C	C266R	0.999
13:79543639:G:A	C266Y	0.999
13:79543641:G:A	G267R	0.999

dbSNP variants (sampled 300 via entrez): RS1000005258 (13:79516486 G>A), RS1000009235 (13:79539568 A>C,G), RS1000011147 (13:79521394 A>T), RS1000015994 (13:79546749 T>C), RS1000051047 (13:79496415 T>C), RS1000070592 (13:79535882 A>G), RS1000129430 (13:79502086 A>C), RS1000179056 (13:79542881 T>C), RS1000210317 (13:79509904 C>G,T), RS1000231252 (13:79553953 T>C), RS1000260681 (13:79554242 G>A), RS1000297587 (13:79522736 C>T), RS1000304504 (13:79503245 T>C), RS1000318216 (13:79509273 G>C), RS1000421763 (13:79536249 G>A)

Disease associations

OMIM: gene MIM:610041 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000745_7	Pancreatic cancer	7.000000e-06
GCST001850_33	Major depressive disorder	2.000000e-06
GCST006858_3	Leisure-time exercise behaviour (age-stratified)	4.000000e-06
GCST007327_56	Smoking status (ever vs never smokers)	1.000000e-08
GCST009391_1048	Metabolite levels	2.000000e-06
GCST009391_1958	Metabolite levels	2.000000e-06
GCST011011_41	Youthful appearance (self-reported)	1.000000e-08
GCST011940_13	Bullous pemphigoid	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0000483	exercise
EFO:0004318	smoking behavior

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
trichostatin A	affects expression, increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Cisplatin	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
Temozolomide	decreases expression	1
Decitabine	affects expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression, decreases expression	1
Cadmium	increases abundance, increases expression	1
Clorgyline	increases expression	1
Dietary Carbohydrates	increases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D8R4	Ubigene HCT 116 NDFIP2 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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