NRBP1

Summary

NRBP1 (nuclear receptor binding protein 1, HGNC:7993) is a protein-coding gene on chromosome 2p23.3, encoding Nuclear receptor-binding protein (Q9UHY1). Required for embryonic development. It is a common-essential gene (DepMap: required in 90.5% of cancer cell lines).

Predicted to enable protein homodimerization activity and protein serine/threonine kinase activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in endomembrane system.

Source: NCBI Gene 29959 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 54 total
• Cancer dependency (DepMap): dependent in 90.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_013392

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7993
Approved symbol	NRBP1
Name	nuclear receptor binding protein 1
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	BCON3, MUDPNP, MADM
Ensembl gene	ENSG00000115216
Ensembl biotype	protein_coding
OMIM	606010
Entrez	29959

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 25 protein_coding, 4 retained_intron

ENST00000233557, ENST00000356442, ENST00000379852, ENST00000379863, ENST00000419281, ENST00000460499, ENST00000486701, ENST00000493746, ENST00000493768, ENST00000857545, ENST00000857546, ENST00000857547, ENST00000857548, ENST00000857549, ENST00000857550, ENST00000857551, ENST00000857552, ENST00000857553, ENST00000923191, ENST00000923192, ENST00000923193, ENST00000923194, ENST00000923195, ENST00000923196, ENST00000955633, ENST00000955634, ENST00000955635, ENST00000955636, ENST00000955637

RefSeq mRNA: 7 — MANE Select: NM_013392 NM_001321357, NM_001321358, NM_001321359, NM_001321361, NM_001321362, NM_001321363, NM_013392

CCDS: CCDS1753, CCDS82433

Canonical transcript exons

ENST00000379852 — 18 exons

Exon	Start	End
ENSE00000809167	27433673	27433795
ENSE00000809168	27433989	27434090
ENSE00000809172	27436753	27436836
ENSE00001482741	27433254	27433483
ENSE00001482779	27441708	27442259
ENSE00001522018	27428631	27428731
ENSE00003476165	27439766	27439898
ENSE00003495919	27435133	27435227
ENSE00003513569	27437262	27437360
ENSE00003537124	27434471	27434560
ENSE00003544089	27440403	27440508
ENSE00003560293	27441567	27441622
ENSE00003560620	27441267	27441330
ENSE00003613044	27441127	27441180
ENSE00003655044	27437047	27437105
ENSE00003660216	27434722	27434762
ENSE00003663066	27440805	27440940
ENSE00003690541	27440652	27440702

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 97.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 87.4966 / max 3192.7991, expressed in 1826 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19368	59.9105	1826
19369	23.4392	1815
202126	3.9895	1622
19370	0.0845	27
202127	0.0730	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	97.91	gold quality
right testis	UBERON:0004534	97.28	gold quality
mucosa of stomach	UBERON:0001199	97.19	gold quality
left testis	UBERON:0004533	97.17	gold quality
body of uterus	UBERON:0009853	97.17	gold quality
ectocervix	UBERON:0012249	97.16	gold quality
endocervix	UBERON:0000458	97.08	gold quality
stromal cell of endometrium	CL:0002255	97.06	gold quality
granulocyte	CL:0000094	97.00	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.87	gold quality
right ovary	UBERON:0002118	96.86	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.86	gold quality
lower esophagus	UBERON:0013473	96.83	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.82	gold quality
left ovary	UBERON:0002119	96.81	gold quality
right coronary artery	UBERON:0001625	96.80	gold quality
popliteal artery	UBERON:0002250	96.80	gold quality
tibial artery	UBERON:0007610	96.80	gold quality
descending thoracic aorta	UBERON:0002345	96.77	gold quality
esophagus	UBERON:0001043	96.73	gold quality
thoracic aorta	UBERON:0001515	96.68	gold quality
aorta	UBERON:0000947	96.67	gold quality
left uterine tube	UBERON:0001303	96.66	gold quality
gastrocnemius	UBERON:0001388	96.66	gold quality
esophagus mucosa	UBERON:0002469	96.66	gold quality
ascending aorta	UBERON:0001496	96.64	gold quality
skin of leg	UBERON:0001511	96.52	gold quality
gall bladder	UBERON:0002110	96.51	gold quality
left coronary artery	UBERON:0001626	96.45	gold quality
skin of abdomen	UBERON:0001416	96.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting NRBP1, 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-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-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-6833-3P	100.00	70.63	3197
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 90.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 17)

• Interaction of the small GTPase Rac3 with NRBP: results suggest that NRBP functions in subcellular trafficking and may be directed to specific subcellular locations through interaction with small GTPases of the Rho family (PMID:11956649)
• mediates phosphorylation of the 14-3-3 binding site of myeloid leukemia factor 1 (PMID:12176995)
• NS3 protein of dengue virus type 2 interacted specifically with nuclear receptor binding protein, a host cellular protein that influences trafficking between the endoplasmic reticulum and Golgi, and that interacts with Rac3 (PMID:15084397)
• NRBP may be an important negative regulator of Jab1-mediated functions such as gene transcription and tumor progression. (PMID:17052710)
• High NRBP1 expression in prostate cancer is linked with poor clinical outcomes and increased cancer cell growth. (PMID:22473923)
• It was shown that NRBP1 is a tumour suppressor that plays a critical role in intestinal cell homoeostasis. NRBP1 levels are reduced in a wide variety of human tumours. Reduced NRBP1 levels in lung cancer correlates with a poor prognosis. (PMID:22510880)
• Targeting this we performed homology modeling and protein-protein docking study of NS3 with NRBP (Nuclear Receptor Binding Protein) of human as it has been proved that NS3 of DENV interacts with NRBP which causes cellular trafficking in human cell. (PMID:24372240)
• The present study deals with the molecular modeling of the viral protein (NS3 of DENV1-4), the host protein (NRBP) and their interactions through protein-protein docking study. (PMID:24910013)
• Study have identified a gout risk gene, NRBP1,and demonstrated that increased NRBP1 expression in gout patients may be regulated through methylation-dependent binding of TFAP2A to the B1 region, a 72 bp upstream of NRBP1 transcription start site. (PMID:28932319)
• Overexpression of NRBP1 triggers the activation of caspase-dependent intrinsic apoptosis, which promotes colorectal cancer cell apoptosis and inhibits cell proliferation and colony formation. High NRBP1 expression levels are associated with longer overall survival and disease-free survival. (PMID:29567997)
• THG-1 suppresses SALL4 degradation to induce stemness genes and tumorsphere formation through antagonizing NRBP1 in squamous cell carcinoma cells. (PMID:31864704)
• NRBP1-Containing CRL2/CRL4A Regulates Amyloid beta Production by Targeting BRI2 and BRI3 for Degradation. (PMID:32160551)
• Puerarin Inhibits the Progression of Bladder Cancer by Regulating circ_0020394/miR-328-3p/NRBP1 Axis. (PMID:33016781)
• CircLRP6 contributes to prostate cancer growth and metastasis by binding to miR-330-5p to up-regulate NRBP1. (PMID:34158077)
• The pseudokinase NRBP1 activates Rac1/Cdc42 via P-Rex1 to drive oncogenic signalling in triple-negative breast cancer. (PMID:36693952)
• The Circular RNA Circ_0085494 Regulates Prostate Cancer Progression Through NRBP1/miR-497-5p Axis. (PMID:36790665)
• NRBP1 promotes malignant phenotypes of glioblastoma by regulating PI3K/Akt activation. (PMID:39149873)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	nrbp1	ENSDARG00000056089
mus_musculus	Nrbp1	ENSMUSG00000029148
rattus_norvegicus	Nrbp1	ENSRNOG00000050570
drosophila_melanogaster	Madm	FBGN0027497
drosophila_melanogaster	Wnk	FBGN0037098
caenorhabditis_elegans		WBGENE00006941
caenorhabditis_elegans	hpo-11	WBGENE00010427

Paralogs (6): WNK1 (ENSG00000060237), WNK4 (ENSG00000126562), DSTYK (ENSG00000133059), WNK2 (ENSG00000165238), NRBP2 (ENSG00000185189), WNK3 (ENSG00000196632)

Protein

Protein identifiers

Nuclear receptor-binding protein — Q9UHY1 (reviewed: Q9UHY1)

All UniProt accessions (4): C9JDW7, C9JHZ6, Q9UHY1, F8W6G1

UniProt curated annotations — full annotation on UniProt →

Function. Required for embryonic development. Plays a role in intestinal epithelial cell fate and proliferation, thereby involved in the architectural development of the intestine potentially via the regulation of Wnt-responsive genes. May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication.

Subunit / interactions. Homodimer. Binds to MLF1, recruiting a serine kinase which phosphorylates both itself and MLF1. Phosphorylated MLF1 binds to YWHAZ and is retained in the cytoplasm. Interacts with ELOC/TCEB1, ELOB/TCEB2, TSC22D2 and TSC22D4. Interacts with the Elongin BC E3 ubiquitin ligase complex via its interaction with ELOB/TCEB2 and ELOC/TCEB1. Interacts with SALL4.

Subcellular location. Cytoplasm. Cell cortex. Endomembrane system. Cell projection. Lamellipodium.

Tissue specificity. Ubiquitously expressed in all tissues examined with high levels in the testis.

Domain organisation. The protein kinase domain is predicted to be catalytically inactive.

Miscellaneous. May act as a tumor suppressor to decrease tumor incidence and improve survival. Expression levels have also been found to be reduced in a range of tumor types, such as leukemia, lymphoma, colorectal, breast, brain, esophageal, renal cell, prostate and lung.

Similarity. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.

RefSeq proteins (7): NP_001308286, NP_001308287, NP_001308288, NP_001308290, NP_001308291, NP_001308292, NP_037524* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR050588	WNK_Ser-Thr_kinase	Family

Pfam: PF07714

UniProt features (19 total): modified residue 4, compositionally biased region 4, sequence variant 3, sequence conflict 3, region of interest 2, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHY1-F1	76.17	0.29

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 (4): 2, 431, 433, 2

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-383280	Nuclear Receptor transcription pathway
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 176 (showing top): GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, WANG_LMO4_TARGETS_DN, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOCC_LAMELLIPODIUM

GO Biological Process (3): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), DNA damage response (GO:0006974), protein phosphorylation (GO:0006468)

GO Molecular Function (5): protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein homodimerization activity (GO:0042803), protein kinase activity (GO:0004672), protein binding (GO:0005515)

GO Cellular Component (7): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cell cortex (GO:0005938), endomembrane system (GO:0012505), lamellipodium (GO:0030027), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Generic Transcription Pathway	1
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	2
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
cellular response to stress	1
phosphorylation	1
protein modification process	1
protein kinase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
identical protein binding	1
protein dimerization activity	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cell periphery	1
vacuole	1
plasma membrane	1
cell leading edge	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

706 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NRBP1	MLF1	P58340	661
NRBP1	CCDC121	Q6ZUS5	617
NRBP1	KRTCAP3	Q53RY4	587
NRBP1	ZNF512	Q96ME7	581
NRBP1	IFT172	Q9UG01	569
NRBP1	TSC22D2	O75157	549
NRBP1	FNDC4	Q9H6D8	512
NRBP1	ZNF513	Q8N8E2	477
NRBP1	SPATA31H1	Q68DN1	448
NRBP1	GTF3C2	Q8WUA4	446
NRBP1	FAM76A	Q8TAV0	442
NRBP1	PPM1G	O15355	436
NRBP1	EIF2B4	Q9UI10	417
NRBP1	AKT1	P31749	397
NRBP1	TSC22D1	Q15714	388

IntAct

96 interactions, top by confidence:

A	B	Type	Score
NRBP1	TSC22D4	psi-mi:“MI:0915”(physical association)	0.930
TSC22D4	NRBP1	psi-mi:“MI:0915”(physical association)	0.930
NRBP1	TSC22D2	psi-mi:“MI:0914”(association)	0.730
PSMD3	PSMD6	psi-mi:“MI:0914”(association)	0.670
CA10	WDHD1	psi-mi:“MI:0914”(association)	0.640
NME3	NME4	psi-mi:“MI:0914”(association)	0.640
TSC22D4	TSC22D2	psi-mi:“MI:0914”(association)	0.640
NRBP1	TSC22D4	psi-mi:“MI:0915”(physical association)	0.560
TSC22D4	NRBP1	psi-mi:“MI:0915”(physical association)	0.560
CIMIP5	NRBP1	psi-mi:“MI:0915”(physical association)	0.560
SNX31	NRBP1	psi-mi:“MI:0915”(physical association)	0.560
SORBS3	NRBP1	psi-mi:“MI:0915”(physical association)	0.560
NRBP1	RAC3	psi-mi:“MI:0915”(physical association)	0.560
RAC3	NRBP1	psi-mi:“MI:0915”(physical association)	0.560
NRBP1		psi-mi:“MI:0915”(physical association)	0.540
NRBP1		psi-mi:“MI:0403”(colocalization)	0.540
FAM117B	GAPDHS	psi-mi:“MI:0914”(association)	0.530
BPGM	FLYWCH2	psi-mi:“MI:0914”(association)	0.530

BioGRID (185): TSC22D4 (Two-hybrid), NRBP1 (Affinity Capture-MS), NRBP1 (Affinity Capture-MS), NRBP1 (Affinity Capture-MS), TSC22D4 (Two-hybrid), NRBP1 (Two-hybrid), NRBP1 (Co-fractionation), NRBP1 (Proximity Label-MS), TSC22D4 (Two-hybrid), NRBP1 (Two-hybrid), NRBP1 (Affinity Capture-MS), NRBP1 (Affinity Capture-MS), NRBP1 (Affinity Capture-MS), NRBP1 (Affinity Capture-MS), NRBP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUJ8, A1A5R7, A2CJ06, A7E3N2, B1H224, B8QB46, D3Z8Y2, D3ZSP7, O55036, P0CG32, P54274, P70371, Q14BQ3, Q29RJ0, Q2HJ46, Q2T9U5, Q3TTP0, Q4R8X0, Q4R9F7, Q4VA55, Q5DTT8, Q5RBH9, Q5TKR9, Q5U310, Q5ZIX8, Q6DJS0, Q6ZQF7, Q71M44, Q7Z2W4, Q7Z7J5, Q80VH0, Q80VM8, Q8BMD7, Q8BZ21, Q8CCG4, Q8CDN1, Q8JZW8, Q8ND61, Q8TE76, Q8VD24

Diamond homologs: A0A078CGE6, A2AQW0, A2QHV0, A2YMV6, A9RVK2, A9SY39, C4YRB7, D4A280, M9PGC5, O14305, O24527, O75914, O81472, O88643, P0CY23, P0CY24, P35465, P41892, P83741, Q01577, Q03497, Q08E52, Q0CL79, Q0D541, Q0D598, Q0D847, Q13153, Q13177, Q17850, Q21029, Q29502, Q297L2, Q2QXC6, Q2QYL8, Q2RA93, Q2RBE3, Q2ULU3, Q2V338, Q2VWQ3, Q39008

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 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
KEAP1-NFE2L2 pathway	5	12.3×	3e-03
Neddylation	6	5.8×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2316 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27433668:CTCAG:C	acceptor_loss	1.0000
2:27433669:TCAGG:T	acceptor_loss	1.0000
2:27433670:CAGGT:C	acceptor_loss	1.0000
2:27433671:A:AG	acceptor_gain	1.0000
2:27433671:AG:A	acceptor_gain	1.0000
2:27433671:AGGT:A	acceptor_gain	1.0000
2:27433672:G:GA	acceptor_gain	1.0000
2:27433672:GG:G	acceptor_gain	1.0000
2:27433672:GGT:G	acceptor_gain	1.0000
2:27433672:GGTG:G	acceptor_gain	1.0000
2:27433672:GGTGA:G	acceptor_gain	1.0000
2:27433792:GGAG:G	donor_gain	1.0000
2:27433793:GAGG:G	donor_gain	1.0000
2:27433795:GG:G	donor_loss	1.0000
2:27433796:G:GC	donor_loss	1.0000
2:27433797:T:A	donor_loss	1.0000
2:27433980:T:TA	acceptor_gain	1.0000
2:27433986:CAGG:C	acceptor_loss	1.0000
2:27433987:A:AG	acceptor_gain	1.0000
2:27433988:G:GA	acceptor_gain	1.0000
2:27433988:GGAAA:G	acceptor_gain	1.0000
2:27434088:AGGG:A	donor_loss	1.0000
2:27434089:GG:G	donor_gain	1.0000
2:27434089:GGGTA:G	donor_loss	1.0000
2:27434090:GG:G	donor_gain	1.0000
2:27434090:GGTA:G	donor_loss	1.0000
2:27434091:G:GG	donor_gain	1.0000
2:27434092:T:TC	donor_loss	1.0000
2:27434556:AAAAG:A	donor_loss	1.0000
2:27434559:AGGTA:A	donor_loss	1.0000

AlphaMissense

3500 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27433460:C:A	R63S	1.000
2:27433461:G:C	R63P	1.000
2:27433463:T:A	W64R	1.000
2:27433463:T:C	W64R	1.000
2:27433464:G:C	W64S	1.000
2:27433465:G:C	W64C	1.000
2:27433465:G:T	W64C	1.000
2:27433467:A:C	Q65P	1.000
2:27433469:A:G	K66E	1.000
2:27433471:G:C	K66N	1.000
2:27433471:G:T	K66N	1.000
2:27433473:G:C	R67T	1.000
2:27433473:G:T	R67M	1.000
2:27433474:G:C	R67S	1.000
2:27433474:G:T	R67S	1.000
2:27433713:T:C	L84P	1.000
2:27433715:G:A	A85T	1.000
2:27433715:G:C	A85P	1.000
2:27433716:C:A	A85D	1.000
2:27433716:C:T	A85V	1.000
2:27433719:T:A	M86K	1.000
2:27433719:T:C	M86T	1.000
2:27433719:T:G	M86R	1.000
2:27433720:G:A	M86I	1.000
2:27433720:G:C	M86I	1.000
2:27433720:G:T	M86I	1.000
2:27433721:G:C	D87H	1.000
2:27433721:G:T	D87Y	1.000
2:27433722:A:C	D87A	1.000
2:27433722:A:G	D87G	1.000

dbSNP variants (sampled 300 via entrez): RS1000116662 (2:27440521 G>A), RS1000286482 (2:27437021 AC>A), RS1000431434 (2:27432522 G>A), RS1000436881 (2:27426527 C>A), RS1001086084 (2:27439001 A>G), RS1001118626 (2:27438775 C>T), RS1001316919 (2:27431197 G>A), RS1001839049 (2:27429072 G>A,C), RS1001892880 (2:27429216 C>G), RS1002068729 (2:27437600 G>A,T), RS1002444891 (2:27429448 A>G), RS1002532716 (2:27442746 G>C), RS1002563888 (2:27442503 G>A,C,T), RS1002923104 (2:27428520 C>G,T), RS1003252519 (2:27435165 A>G)

Disease associations

OMIM: gene MIM:606010 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001905_4	Hypertriglyceridemia	2.000000e-13
GCST004131_72	Inflammatory bowel disease	1.000000e-07
GCST004132_64	Crohn’s disease	6.000000e-11
GCST006143_9	Bone mineral density (total hip)	5.000000e-06
GCST006575_57	Takayasu arteritis	8.000000e-06
GCST007877_1	Creatinine levels	2.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0007702	hip bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — NRBP family

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	3
Tobacco Smoke Pollution	affects expression, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
ochratoxin A	affects cotreatment, 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
bisphenol B	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
(+)-JQ1 compound	affects binding	1
bisphenol AF	increases expression	1
Decitabine	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Citrinin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Urethane	increases expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1
Genistein	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B5N7	MFUM-BrTNBC-1	Cancer cell line	Female
CVCL_TB04	HAP1 NRBP1 (-) 1	Cancer cell line	Male
CVCL_XR11	HAP1 NRBP1 (-) 2	Cancer cell line	Male
CVCL_XR12	HAP1 NRBP1 (-) 3	Cancer cell line	Male
CVCL_XR13	HAP1 NRBP1 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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