NELL2

Summary

NELL2 (neural EGFL like 2, HGNC:7751) is a protein-coding gene on chromosome 12q12, encoding Protein kinase C-binding protein NELL2 (Q99435). Plays multiple roles in neural tissues, regulates neuronal proliferation, survival, differentiation, polarization, as well as axon guidance and synaptic functions.

The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis.

Source: NCBI Gene 4753 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 165 total
• MANE Select transcript: NM_001145108

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7751
Approved symbol	NELL2
Name	neural EGFL like 2
Location	12q12
Locus type	gene with protein product
Status	Approved
Aliases	NRP2
Ensembl gene	ENSG00000184613
Ensembl biotype	protein_coding
OMIM	602320
Entrez	4753

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 20 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000333837, ENST00000395487, ENST00000429094, ENST00000437801, ENST00000452445, ENST00000546415, ENST00000547172, ENST00000547636, ENST00000547751, ENST00000548531, ENST00000548826, ENST00000549027, ENST00000549668, ENST00000550139, ENST00000550313, ENST00000550462, ENST00000551601, ENST00000551949, ENST00000552993, ENST00000553120, ENST00000868481, ENST00000868482, ENST00000967237, ENST00000967238, ENST00000967239

RefSeq mRNA: 5 — MANE Select: NM_001145108 NM_001145107, NM_001145108, NM_001145109, NM_001145110, NM_006159

CCDS: CCDS44863, CCDS44864, CCDS53781, CCDS8746

Canonical transcript exons

ENST00000429094 — 20 exons

Exon	Start	End
ENSE00001290700	44520005	44520229
ENSE00001294497	44523291	44523484
ENSE00001311302	44522000	44522176
ENSE00001329516	44532581	44532721
ENSE00001741619	44875815	44876315
ENSE00002397663	44508278	44508984
ENSE00003464774	44779663	44779759
ENSE00003470401	44703726	44703854
ENSE00003517555	44777042	44777124
ENSE00003518917	44607169	44607264
ENSE00003537911	44610848	44610970
ENSE00003557315	44776022	44776150
ENSE00003605353	44714650	44714741
ENSE00003614673	44875225	44875353
ENSE00003626389	44777242	44777314
ENSE00003627346	44665484	44665609
ENSE00003668396	44774747	44774849
ENSE00003684123	44711292	44711394
ENSE00003784647	44779849	44780022
ENSE00003788063	44815986	44816136

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.86.

FANTOM5 (CAGE): breadth broad, TPM avg 17.6334 / max 932.4346, expressed in 586 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130533	12.5847	547
130531	1.0781	255
130532	0.6902	219
130529	0.5840	187
130527	0.5183	97
130534	0.4370	193
130530	0.4136	158
130523	0.1881	101
130521	0.1703	84
130528	0.1430	72

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.86	gold quality
cortical plate	UBERON:0005343	99.72	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.57	gold quality
pigmented layer of retina	UBERON:0001782	99.51	gold quality
orbitofrontal cortex	UBERON:0004167	99.25	gold quality
frontal pole	UBERON:0002795	99.16	gold quality
superior frontal gyrus	UBERON:0002661	98.76	gold quality
endothelial cell	CL:0000115	98.70	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.54	gold quality
germinal epithelium of ovary	UBERON:0001304	98.47	gold quality
postcentral gyrus	UBERON:0002581	98.38	gold quality
choroid plexus epithelium	UBERON:0003911	98.34	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.29	gold quality
parietal lobe	UBERON:0001872	98.26	gold quality
entorhinal cortex	UBERON:0002728	97.85	gold quality
ganglionic eminence	UBERON:0004023	97.77	gold quality
CA1 field of hippocampus	UBERON:0003881	97.75	gold quality
primary visual cortex	UBERON:0002436	97.43	gold quality
frontal cortex	UBERON:0001870	97.40	gold quality
prefrontal cortex	UBERON:0000451	97.38	gold quality
occipital lobe	UBERON:0002021	97.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.16	gold quality
cerebral cortex	UBERON:0000956	96.97	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.85	gold quality
neocortex	UBERON:0001950	96.78	gold quality
hair follicle	UBERON:0002073	96.64	gold quality
Ammon’s horn	UBERON:0001954	96.51	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.13	gold quality
right frontal lobe	UBERON:0002810	96.08	gold quality
right uterine tube	UBERON:0001302	96.03	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-70580	yes	1589.35
E-GEOD-93593	yes	860.99
E-HCAD-4	yes	114.30
E-HCAD-25	yes	94.53
E-HCAD-35	yes	89.12
E-HCAD-5	yes	59.95
E-MTAB-7606	no	376.33
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, ESR1, ESR2, HNF4A

miRNA regulators (miRDB)

58 targeting NELL2, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4437	99.52	65.29	1266

Literature-anchored findings (GeneRIF, showing 6)

• CpG islands in the NELL1 and NELL2 promoters are hypermethylated in renal cell carcinoma.NELL1 and NELL2 protein expression is downregulated in clear cell renal carcinoma. (PMID:25726761)
• CSF NELL2 is a potential diagnostic biomarker for TBM. (PMID:25760060)
• results suggest that Robo2 functions as a receptor for NELL1/2, particularly under circumstances where Robo2 undergoes proteolytic digestion (PMID:30700556)
• NELL2 modulates cell proliferation and apoptosis via ERK pathway in the development of benign prostatic hyperplasia. (PMID:34195782)
• Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2. (PMID:34238763)
• Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding. (PMID:35940226)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nell2b	ENSDARG00000062797
danio_rerio	nell2a	ENSDARG00000090690
mus_musculus	Nell2	ENSMUSG00000022454
rattus_norvegicus	Nell2	ENSRNOG00000006235

Paralogs (1): NELL1 (ENSG00000165973)

Protein

Protein identifiers

Protein kinase C-binding protein NELL2 — Q99435 (reviewed: Q99435)

Alternative names: NEL-like protein 2, Nel-related protein 2

All UniProt accessions (10): F8VRQ0, F8VVB6, F8VXR5, F8VZ72, F8W1A2, F8W1I8, H0YHY5, H0YI34, H0YIT4, Q99435

UniProt curated annotations — full annotation on UniProt →

Function. Plays multiple roles in neural tissues, regulates neuronal proliferation, survival, differentiation, polarization, as well as axon guidance and synaptic functions. Plays an important role in axon development during neuronal differentiation through the MAPK intracellular signaling pathway. Via binding to its receptor ROBO3, plays a role in axon guidance, functioning as a repulsive axon guidance cue that contributes to commissural axon guidance to the midline. Required for neuron survival through the modulation of MAPK signaling pathways too. Involved in the regulation of hypothalamic GNRH secretion and the control of puberty. Epididymal-secreted protein that signals through a ROS1-pathway to regulate the epididymal initial segment (IS) maturation, sperm maturation and male fertility.

Subunit / interactions. Homotrimer. Binds to PRKCB. Interacts with NICOL1; this interaction triggers epididymal differentiation. Interacts (via the EGF domains) with ROBO3 (via Fibronectin type-III 1 domain) with a 3:3 stoichiometry; this interaction promotes oligomerization of ROBO3 resulting in the repulsion of commissural axons in the midline.

Subcellular location. Secreted.

Isoforms (4)

UniProt ID	Names	Canonical?
Q99435-1	1	yes
Q99435-2	2
Q99435-3	3
Q99435-4	4

RefSeq proteins (5): NP_001138579, NP_001138580, NP_001138581, NP_001138582, NP_006150 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001007	VWF_dom	Domain
IPR001791	Laminin_G	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR024731	NELL2-like_EGF	Domain
IPR048287	TSPN-like_N	Domain
IPR049883	NOTCH1_EGF-like	Domain
IPR051586	PKC-binding_NELL	Family

Pfam: PF00093, PF02210, PF07645, PF12947

UniProt features (99 total): strand 22, binding site 18, disulfide bond 18, domain 10, mutagenesis site 9, glycosylation site 8, sequence conflict 4, splice variant 3, sequence variant 3, signal peptide 1, chain 1, helix 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6POG	X-RAY DIFFRACTION	2.75
10FT	ELECTRON MICROSCOPY	3.21
9PWQ	ELECTRON MICROSCOPY	4.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99435-F1	81.09	0.14

Functional residue map

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

Ligand- & substrate-binding residues (18): 440; 441; 443; 459; 460; 463; 555; 556; 558; 574; 575; 578 …

Disulfide bonds (18): 401–413, 407–422, 424–438, 444–457, 451–466, 468–480, 486–499, 493–508, 510–521, 525–535, 529–541, 543–552, 559–572, 566–581, 583–600, 606–619, 613–628, 630–636

Glycosylation sites (8): 53, 225, 293, 298, 517, 548, 615, 635

Mutagenesis-validated functional residues (9):

Position	Phenotype
448	diminished binding to robo3; when associated with a-450.
450	diminished binding to robo3; when associated with a-448.
452	diminished binding to robo3.
476	abolished binding to robo3.
477	abolished binding to robo3; when associated with a-478.
478	abolished binding to robo3; when associated with a-477.
498	abolished binding to robo3; when associated with a-500.
500	abolished binding to robo3; when associated with a-498.
509	diminished binding to robo3.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-428542	Regulation of commissural axon pathfinding by SLIT and ROBO
R-HSA-1266738	Developmental Biology
R-HSA-376176	Signaling by ROBO receptors
R-HSA-422475	Axon guidance
R-HSA-9675108	Nervous system development

MSigDB gene sets: 704 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_FOREBRAIN_NEURON_DEVELOPMENT, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, E2F_Q4, E2F_Q4_01, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_SIGNALING_PATHWAY, GOBP_OUTFLOW_TRACT_SEPTUM_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, E2F4DP1_01, MORF_MSH3, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_RESPONSE_TO_PEPTIDE

GO Biological Process (4): fertilization (GO:0009566), neuron cellular homeostasis (GO:0070050), commissural neuron axon guidance (GO:0071679), nervous system development (GO:0007399)

GO Molecular Function (5): protein kinase C binding (GO:0005080), calcium ion binding (GO:0005509), heparin binding (GO:0008201), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Signaling by ROBO receptors	1
Axon guidance	1
Nervous system development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
sexual reproduction	1
reproductive process	1
cellular homeostasis	1
axon guidance	1
system development	1
protein kinase binding	1
metal ion binding	1
glycosaminoglycan binding	1
sulfur compound binding	1
protein binding	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2355 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NELL2	ROBO3	Q96MS0	950
NELL2	ANO6	Q4KMQ2	912
NELL2	ANO5	Q75V66	845
NELL2	TMEM117	Q9H0C3	664
NELL2	ROBO2	Q9HCK4	659
NELL2	ANO1	Q5XXA6	577
NELL2	LAMA2	P24043	480
NELL2	SSPN	Q14714	479
NELL2	EEIG1	Q5T9C2	433
NELL2	NRIP3	Q9NQ35	429
NELL2	AGTR1	P30556	411
NELL2	CALB1	P05937	409
NELL2	CDH4	P55283	408
NELL2	NDUFAF6	Q330K2	395
NELL2	COL5A1	P20908	393

IntAct

36 interactions, top by confidence:

A	B	Type	Score
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
ZFP41	LRP4	psi-mi:“MI:0914”(association)	0.530
ZNF408	LRP4	psi-mi:“MI:0914”(association)	0.530
NELL2	HOXA1	psi-mi:“MI:0915”(physical association)	0.510
NELL2	MBD1	psi-mi:“MI:0915”(physical association)	0.510
NELL2	NUFIP2	psi-mi:“MI:0915”(physical association)	0.510
NELL2	SHANK3	psi-mi:“MI:0915”(physical association)	0.510
GFI1B	NELL2	psi-mi:“MI:0915”(physical association)	0.510
ST13	NELL2	psi-mi:“MI:0915”(physical association)	0.400
NELL2	ARX	psi-mi:“MI:0915”(physical association)	0.370
NELL2	ATXN7	psi-mi:“MI:0915”(physical association)	0.370
CACNA1A	NELL2	psi-mi:“MI:0915”(physical association)	0.370
PRKAR1A	NELL2	psi-mi:“MI:0915”(physical association)	0.370
	NELL2	psi-mi:“MI:0915”(physical association)	0.370
ZFP41	AGRN	psi-mi:“MI:0914”(association)	0.350
ZNF408		psi-mi:“MI:0914”(association)	0.350
NELL2	MATN2	psi-mi:“MI:0914”(association)	0.350
COLEC11	COL6A1	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
NELL1	MATN2	psi-mi:“MI:0914”(association)	0.350
DEFB136	MANBA	psi-mi:“MI:0914”(association)	0.350
SLURP1	MANBA	psi-mi:“MI:0914”(association)	0.350
COLEC11	PLOD3	psi-mi:“MI:0914”(association)	0.350
NELL2		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (87): NELL2 (Affinity Capture-MS), NELL2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), MATN2 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS), ZBTB9 (Affinity Capture-MS), POC1A (Affinity Capture-MS), PAX3 (Affinity Capture-MS), CEP44 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), C4orf48 (Affinity Capture-MS), POLRMT (Affinity Capture-MS), ZNF136 (Affinity Capture-MS), POC1B (Affinity Capture-MS)

ESM2 similar proteins: A0JM12, A1A5Y0, A2VCU8, A6BM72, A6QR11, E9QJQ6, O42182, O70534, O88281, P23142, P35555, P35953, P80370, P97607, P98133, P98155, P98156, P98165, P98166, Q08879, Q09163, Q28832, Q2VWQ2, Q5R3Z7, Q5VY43, Q61220, Q61554, Q61555, Q62918, Q62919, Q6DIB5, Q7ZXL5, Q80T14, Q80T91, Q80V70, Q86XX4, Q8C088, Q8R4Y4, Q8VIK5, Q90827

Diamond homologs: A1A5Y0, A2VCU8, A4IGL7, A5A8Y8, A6QR11, B5DFC9, O75095, O88322, P07996, P10493, P14585, P35441, P35448, P82279, P98118, Q14112, Q20911, Q24025, Q28178, Q2PC93, Q2VWQ2, Q3MHH9, Q5FW85, Q5R3Z7, Q61220, Q62918, Q62919, Q6AZ60, Q6GUQ1, Q6MG84, Q75N90, Q7T3Q2, Q7ZXL5, Q80T14, Q8AVH7, Q8AWW5, Q8VHS2, Q90827, Q90ZD5, Q91X17

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	137
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

6417 predictions. Top by Δscore:

Variant	Effect	Δscore
12:44520029:AGTG:A	donor_gain	1.0000
12:44523352:A:C	donor_gain	1.0000
12:44523481:ATAT:A	acceptor_gain	1.0000
12:44523482:TAT:T	acceptor_gain	1.0000
12:44523483:AT:A	acceptor_gain	1.0000
12:44523483:ATC:A	acceptor_loss	1.0000
12:44523484:TC:T	acceptor_loss	1.0000
12:44523485:C:CA	acceptor_loss	1.0000
12:44523485:C:CC	acceptor_gain	1.0000
12:44523486:T:A	acceptor_loss	1.0000
12:44523487:A:C	acceptor_gain	1.0000
12:44532576:CTGA:C	donor_loss	1.0000
12:44532577:TGA:T	donor_loss	1.0000
12:44532578:GA:G	donor_loss	1.0000
12:44532579:ACC:A	donor_loss	1.0000
12:44607167:AC:A	donor_gain	1.0000
12:44607168:CC:C	donor_gain	1.0000
12:44607262:ATG:A	acceptor_gain	1.0000
12:44607263:TG:T	acceptor_gain	1.0000
12:44607264:GCTAA:G	acceptor_loss	1.0000
12:44607265:C:CC	acceptor_gain	1.0000
12:44607265:CT:C	acceptor_loss	1.0000
12:44607266:T:C	acceptor_loss	1.0000
12:44610843:TTTA:T	donor_loss	1.0000
12:44610844:TTAC:T	donor_loss	1.0000
12:44610845:TA:T	donor_loss	1.0000
12:44610846:A:AG	donor_loss	1.0000
12:44610847:C:CG	donor_loss	1.0000
12:44610966:ATGTT:A	acceptor_gain	1.0000
12:44610967:TGTT:T	acceptor_gain	1.0000

AlphaMissense

5452 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:44777073:A:G	L244P	1.000
12:44523330:C:A	W653C	0.999
12:44523330:C:G	W653C	0.999
12:44532637:C:G	C583S	0.999
12:44532638:A:G	C583R	0.999
12:44532638:A:T	C583S	0.999
12:44532670:C:G	C572S	0.999
12:44532671:A:T	C572S	0.999
12:44532688:C:G	C566S	0.999
12:44532689:A:T	C566S	0.999
12:44532709:C:G	C559S	0.999
12:44532710:A:T	C559S	0.999
12:44607177:C:G	C552S	0.999
12:44607178:A:T	C552S	0.999
12:44777094:A:G	L237P	0.999
12:44777102:G:C	F234L	0.999
12:44777102:G:T	F234L	0.999
12:44777103:A:C	F234C	0.999
12:44777104:A:G	F234L	0.999
12:44777112:C:T	C231Y	0.999
12:44777122:A:G	C228R	0.999
12:44520009:C:G	C799S	0.998
12:44520010:A:T	C799S	0.998
12:44522076:C:G	C700S	0.998
12:44522077:A:T	C700S	0.998
12:44523302:A:G	C663R	0.998
12:44523432:G:C	C619W	0.998
12:44523434:A:G	C619R	0.998
12:44523472:C:G	C606S	0.998
12:44523473:A:T	C606S	0.998

dbSNP variants (sampled 300 via entrez): RS1000003235 (12:44797245 A>G), RS1000006198 (12:44589889 T>A), RS1000018460 (12:44564966 C>T), RS1000018909 (12:44887766 C>G), RS1000020888 (12:44536006 A>G), RS1000022207 (12:44670772 C>T), RS1000030550 (12:44670556 C>T), RS1000032790 (12:44630277 T>C), RS1000038376 (12:44540148 C>T), RS1000047433 (12:44714350 C>T), RS1000071553 (12:44602658 T>C), RS1000086473 (12:44919424 T>C), RS1000091774 (12:44922395 C>A), RS1000091806 (12:44539903 C>T), RS1000093382 (12:44890132 T>C)

Disease associations

OMIM: gene MIM:602320 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003602_9	Inflammatory bowel disease	6.000000e-06
GCST008151_60	Waist circumference	9.000000e-06
GCST008160_19	Waist circumference	9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	6
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, affects methylation	2
entinostat	decreases expression, affects cotreatment	2
belinostat	decreases expression, affects cotreatment	2
Vorinostat	affects cotreatment, decreases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Acetaminophen	increases expression	2
Tretinoin	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
triphenyl phosphate	affects expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
tobacco tar	decreases reaction, increases expression	1
benzo(e)pyrene	increases methylation	1
allyl sulfide	decreases reaction, increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases methylation	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Air Pollutants	decreases expression	1
Benzo(a)pyrene	increases methylation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1TS	Abcam U-87MG NRP2 KO	Cancer cell line	Male
CVCL_D1XW	Abcam A-549 NRP2 KO	Cancer cell line	Male
CVCL_D2C5	Abcam HCT 116 NRP2 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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