CSN2

Summary

CSN2 (casein beta, HGNC:2447) is a protein-coding gene on chromosome 4q13.3, encoding Beta-casein (P05814). Important role in determination of the surface properties of the casein micelles.

This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. In addition, the C-terminal 14 aa of the protein has antimicrobial activity, especially in preterm milk, displaying antibacterial activity against S. aureus and Y. enterocolitica. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 1447 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 45 total
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.17 (unconstrained)
• MANE Select transcript: NM_001891

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2447
Approved symbol	CSN2
Name	casein beta
Location	4q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000135222
Ensembl biotype	protein_coding
OMIM	115460
Entrez	1447

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

MANE Select: ENST00000353151

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1

ENST00000353151

RefSeq mRNA: 3 — MANE Select: NM_001891 NM_001302770, NM_001385731, NM_001891

CCDS: CCDS3532

Canonical transcript exons

ENST00000353151 — 8 exons

Exon	Start	End
ENSE00000865215	69958909	69958953
ENSE00001024573	69960945	69961007
ENSE00001024574	69960053	69960079
ENSE00001024575	69959049	69959069
ENSE00001024576	69957274	69957804
ENSE00001076574	69956314	69956355
ENSE00001395695	69955256	69955592
ENSE00003935595	69965681	69965728

Expression profiles

Bgee: expression breadth broad, 42 present calls, max score 98.48.

Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, tonsil, saliva-secreting gland, minor salivary gland, olfactory segment of nasal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CSN2 is not an eGene in any GTEx v10 tissue: no tissue shows a variant significantly associated with its expression or splicing (q < 0.05).

Top tissues by expression

showing 100 of 112 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	98.48	gold quality
tonsil	UBERON:0002372	48.77	gold quality
saliva-secreting gland	UBERON:0001044	46.44	gold quality
minor salivary gland	UBERON:0001830	43.70	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	42.08	gold quality
sural nerve	UBERON:0015488	38.02	gold quality
islet of Langerhans	UBERON:0000006	37.34	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
smooth muscle tissue	UBERON:0001135	34.85	gold quality
placenta	UBERON:0001987	33.81	silver quality
muscle tissue	UBERON:0002385	33.72	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
urinary bladder	UBERON:0001255	30.10	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
pancreas	UBERON:0001264	28.45	gold quality
monocyte	CL:0000576	28.16	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	28.11	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
muscle of leg	UBERON:0001383	27.00	silver quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gastrocnemius	UBERON:0001388	26.25	silver quality
muscle layer of sigmoid colon	UBERON:0035805	26.04	silver quality
gall bladder	UBERON:0002110	25.98	gold quality
thoracic mammary gland	UBERON:0005200	25.95	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
frontal cortex	UBERON:0001870	24.27	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
Ammon’s horn	UBERON:0001954	24.02	silver quality
kidney	UBERON:0002113	23.93	gold quality
cortex of kidney	UBERON:0001225	23.81	gold quality
stomach	UBERON:0000945	23.29	silver quality
endometrium	UBERON:0001295	23.24	gold quality
left uterine tube	UBERON:0001303	23.14	silver quality
calcaneal tendon	UBERON:0003701	23.08	gold quality
body of stomach	UBERON:0001161	22.85	silver quality
heart left ventricle	UBERON:0002084	22.77	silver quality
rectum	UBERON:0001052	22.68	gold quality
body of pancreas	UBERON:0001150	22.60	silver quality
heart	UBERON:0000948	22.57	silver quality
hypothalamus	UBERON:0001898	22.52	gold quality
right lobe of liver	UBERON:0001114	22.36	gold quality
multicellular organism	UBERON:0000468	22.28	gold quality
lower esophagus mucosa	UBERON:0035834	22.15	gold quality
tibial artery	UBERON:0007610	22.08	gold quality
popliteal artery	UBERON:0002250	22.07	gold quality
small intestine	UBERON:0002108	22.05	silver quality
right adrenal gland cortex	UBERON:0035827	22.04	gold quality
myometrium	UBERON:0001296	21.65	gold quality
adenohypophysis	UBERON:0002196	21.65	gold quality
adrenal tissue	UBERON:0018303	21.63	gold quality
right atrium auricular region	UBERON:0006631	21.61	silver quality
fundus of stomach	UBERON:0001160	21.52	gold quality
adult mammalian kidney	UBERON:0000082	21.10	gold quality
lower esophagus	UBERON:0013473	20.99	gold quality
brain	UBERON:0000955	20.97	gold quality
lower esophagus muscularis layer	UBERON:0035833	20.92	gold quality
ascending aorta	UBERON:0001496	20.88	silver quality
temporal lobe	UBERON:0001871	20.84	silver quality
thoracic aorta	UBERON:0001515	20.70	silver quality
amygdala	UBERON:0001876	20.65	silver quality
granulocyte	CL:0000094	20.63	gold quality
left adrenal gland cortex	UBERON:0035825	20.43	silver quality
testis	UBERON:0000473	20.38	gold quality
body of uterus	UBERON:0009853	20.35	silver quality
substantia nigra	UBERON:0002038	20.34	gold quality
small intestine Peyer’s patch	UBERON:0003454	20.29	silver quality
apex of heart	UBERON:0002098	20.28	gold quality
anterior cingulate cortex	UBERON:0009835	20.26	silver quality
ectocervix	UBERON:0012249	20.18	gold quality
right adrenal gland	UBERON:0001233	20.16	gold quality
pituitary gland	UBERON:0000007	20.00	gold quality
mucosa of transverse colon	UBERON:0004991	19.91	gold quality
right lobe of thyroid gland	UBERON:0001119	19.64	gold quality
omental fat pad	UBERON:0010414	19.62	silver quality
skin of abdomen	UBERON:0001416	19.61	gold quality
Brodmann (1909) area 9	UBERON:0013540	19.53	gold quality
zone of skin	UBERON:0000014	19.50	gold quality
thyroid gland	UBERON:0002046	19.41	gold quality
corpus callosum	UBERON:0002336	19.39	gold quality
right coronary artery	UBERON:0001625	19.38	gold quality
skin of leg	UBERON:0001511	19.13	gold quality
left coronary artery	UBERON:0001626	19.00	gold quality
cerebellum	UBERON:0002037	18.97	gold quality
putamen	UBERON:0001874	18.92	gold quality
right testis	UBERON:0004534	18.87	gold quality
nucleus accumbens	UBERON:0001882	18.85	gold quality
cerebellar cortex	UBERON:0002129	18.85	gold quality
spleen	UBERON:0002106	18.64	gold quality
cerebellar hemisphere	UBERON:0002245	18.60	gold quality
prostate gland	UBERON:0002367	18.53	gold quality
right ovary	UBERON:0002118	18.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-10855	yes	109800.98
E-MTAB-10885	yes	94569.26
E-MTAB-9841	yes	75448.36
E-ANND-3	no	2.29

HPA expression

RNA tissue specificity: Tissue enriched

6 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Breast	tissue	538.2	low
Thymus	tissue	5.2
Salivary gland	tissue	2.5	not detected
Seminal vesicle	tissue	0.4	not detected
Smooth muscle	tissue	0.1	not detected
Lactating breast	tissue	-1.0	high

Brain sub-regions (HPA Brain Atlas): detected in 102; highest nTPM — Corpus callosum, splenium (white matter) (80.5), Corpus callosum, genu (white matter) (79.8), Cerebellar white matter (75.7), Lateral funiculus (white matter) (75.6), Anterior funiculus (white matter) (71.0).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BCL6, CEBPA, CEBPB, CEBPG, DDIT3, ESR1, ESR2, FOS, HNF4A, ID4, MYC, NCOA1, NFKB1, NFKB, NR0B2, NR3C1, NR3C2, NRG1, PGR, POU2F1, POU2F2, PPARA, PPARG, RELA, RUNX2, SMAD2, SMAD3, SMAD4, STAT1, STAT3, STAT5A, STAT5B, STAT6, TP53, TP63, TSC22D3, YY1, ZNF335

miRNA regulators (miRDB)

Targeting CSN2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 48 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-190A-5P	99.54	71.45	933

Functional genomics

gnomAD constraint: pLI 0.00146, LOEUF 1.17, missense Z -1.06 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000353151 — one region, missense o/e 1.26.

Literature-anchored findings (GeneRIF, showing 9)

• New functions of lactoferrin and beta-casein in mammalian milk as cysteine protease inhibitors. They might play a role in antiseptic and antiinfectious functions due to cysteine protease inhibition of bacteria and viruses. (PMID:12788072)
• The RCM-kappa does form concentration-dependent micelles. Also, beta-CN phosphorylation level influences micelle formation. Complexes were low-temperature reversible and RCM-kappa fibrils were seen. (PMID:16947075)
• a negative cross talk between PR and Stat5a/GR may contribute to the physiological role of progesterone to repress lactogenic hormone induction of the beta-casein gene (PMID:16973758)
• derivatives of peptide fragment (54-59) exhibit immunosuppressant activity (PMID:19463972)
• Milk congestion gives rise to higher levels of beta-casomorphin-8 in milk and plasma than in lactating women without problems. (PMID:24189037)
• The acidic fragment of human Abeta (Abeta1-11) and a phosphorylated fragment of beta-Casein induced tau fibrillization in vitro. (PMID:24364857)
• Exogenous 5-HT decreased beta-casein expression in MCF-12A human mammary epithelial cells and was responsible for inhibiting phosphorylation of STAT5, resulting in a decline in lactational function. (PMID:25087955)
• Data suggest that neurogenesis in neuronal stem cells is differentially affected by human and bovine beta-casein-derived opioid peptides BCM7 and BCM9; such neurogenic changes are accompanied by changes in glutathione/glutathione disulfide ratio and in S-adenosylmethionine/S-adenosylhomocysteine ratio, indicative of changes in redox and methylation states (including DNA methylation). (PMID:27611101)
• The PDC213 peptide derived from CSN2 displays antimicrobial activity against S. aureus and Y. enterocolitica. (PMID:28093229)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Csn2	ENSMUSG00000063157
rattus_norvegicus	Csn2	ENSRNOG00000039326

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:88541) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
maternal effect	1
abnormal milk composition	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Ovis aries	P11839	99.1%	Diamond
Capra hircus	P33048	99.1%	Diamond
Bos taurus	P02666	97.3%	Diamond
Bubalus bubalis	Q9TSI0	97.3%	Diamond
Equus asinus	P86273	84.5%	Diamond
Equus caballus	Q9GKK3	84.5%	Diamond
Camelus dromedarius	Q9TVD0	71.9%	Diamond
Sus scrofa	P39037	55.1%	Diamond
Oryctolagus cuniculus	P09116	53.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CSN1S1	protein-coding	1446
HTN3	protein-coding	3347
STATH	protein-coding	6779
SULT1B1	protein-coding	27284
SULT1E1	protein-coding	6783
HTN1	protein-coding	3346

Protein

Protein identifiers

Beta-casein — P05814 (reviewed: P05814)

All UniProt accessions (2): P05814, W5RWE1

UniProt curated annotations — full annotation on UniProt →

Function. Important role in determination of the surface properties of the casein micelles.

Subcellular location. Secreted.

Tissue specificity. Mammary gland specific. Secreted in milk.

Post-translational modifications. Form 1-P is phosphorylated once; half of the molecules are phosphorylated on Ser-24, half on Ser-25. (Microbial infection) Proteolytically cleaved by H.pylori HtrA.

Similarity. Belongs to the beta-casein family.

RefSeq proteins (3): NP_001289699, NP_001372660, NP_001882* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001588	Casein	Family
IPR016345	Casein_beta	Family
IPR031305	Casein_CS	Conserved_site

Pfam: PF00363

UniProt features (19 total): sequence conflict 12, modified residue 5, signal peptide 1, chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05814-F1	60.09	0.04

Human Protein Atlas

Protein class: Predicted secreted proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH supported

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 (5)

Type	Positions
Phosphothreonine	18
Phosphoserine	21, 23, 24, 25

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 5; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

5 pathways:

ID	Pathway	Evidence
R-HSA-9927426	Developmental Lineage of Mammary Gland Alveolar Cells	curated
R-HSA-1251985	Nuclear signaling by ERBB4	curated
R-HSA-162582	Signal Transduction	—
R-HSA-1236394	Signaling by ERBB4	—
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	—

MSigDB gene sets: 109 (showing top): PID_REG_GR_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, chr4q13, CATTTCA_MIR203, WTGAAAT_UNKNOWN, GOBP_SECRETION, GOBP_MAMMARY_GLAND_DEVELOPMENT, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOBP_BODY_FLUID_SECRETION, GATA4_Q3, GOBP_REGULATION_OF_BODY_FLUID_LEVELS, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, GOBP_LACTATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, GOMF_PEPTIDASE_REGULATOR_ACTIVITY

GO Biological Process (2): calcium ion transport (GO:0006816), lactation (GO:0007595)

GO Molecular Function (4): enzyme inhibitor activity (GO:0004857), cysteine-type endopeptidase inhibitor activity (GO:0004869), calcium ion binding (GO:0005509), protein binding (GO:0005515)

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

Reactome top-level categories

4 top-level categories:

Category	Pathways
Signaling by ERBB4	1
Developmental Lineages of the Mammary Gland	1
Signaling by Receptor Tyrosine Kinases	1
Signal Transduction	1

GO top-level categories

12 GO namespaces:

Category	Terms
metal ion transport	1
body fluid secretion	1
mammary gland development	1
milk ejection reflex	1
catalytic activity	1
enzyme regulator activity	1
molecular function inhibitor activity	1
cysteine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
metal ion binding	1
binding	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
lactation	BP	direct assay
cysteine-type endopeptidase inhibitor activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 752 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CSN2	CSN1S1	P47710	982
CSN2	CSN3	P07498	972
CSN2	LALBA	P00709	902
CSN2	PRL	P01236	881
CSN2	PRLR	P16471	784
CSN2	LTF	P02788	718
CSN2	BICD2	Q8TD16	694
CSN2	NEK9	Q8TD19	674
CSN2	BTN1A1	Q13410	671
CSN2	NEK6	Q9HC98	660
CSN2	STAT5A	P42229	654
CSN2	HTRA1	Q92743	654
CSN2	NEK7	Q8TDX7	652
CSN2	INS	P01308	644
CSN2	TPH1	P17752	623

IntAct

Human interaction partners of CSN2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

11 partners by confidence:

Partner	Interaction type	MIscore	Records
FHL2	physical association	0.670	4
UBQLN2	physical association	0.560	6
CRYBB3	association	0.530	2
PPP3CC	association	0.530	1
ACE2	protein cleavage	0.440	1
FAM20C	phosphorylation reaction	0.440	1
CDC42	physical association	0.000	1
GRB2	physical association	0.000	1
NFYC	physical association	0.000	1
RAC1	physical association	0.000	1
TOLLIP	physical association	0.000	1

BioGRID (41 interactions; top human partners by supporting records): PLK1 (Biochemical Activity; 3 records), CORO2A (Affinity Capture-MS; 2 records), CSNK2A1 (Biochemical Activity; 2 records), FHL2 (Two-hybrid; 2 records), HTRA2 (Biochemical Activity; 2 records), PPP3CC (Affinity Capture-MS; 2 records), ARHGAP36 (Affinity Capture-MS), ARRB1 (Affinity Capture-MS), ARRB2 (Affinity Capture-MS), AURKA (Biochemical Activity), CDC42 (Two-hybrid), CDK1 (Biochemical Activity), CHPF (Affinity Capture-MS), COPS7A (Affinity Capture-MS), CRYBB3 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for CSN2: 45 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	8
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 18 predictions of 510):

Position(s)	Effect	Δscore	Sites
4:69958894	donor_gain	1.0000
4:69960947	donor_gain	0.9900
4:69965679–69965680	donor_loss	0.9900	4
4:69956497	acceptor_gain	0.9700
4:69957638	donor_gain	0.9700
4:69957651	donor_gain	0.9700
4:69958907–69958908	donor_loss	0.9700	6
4:69961016	acceptor_gain	0.9700
4:69956499	acceptor_gain	0.9600
4:69958906	donor_loss	0.9600

AlphaMissense

47 missense substitutions predicted likely pathogenic (of 1,463 scored), across 19 residues. Top 19 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
K2	4	0.718	0.770
C8	3	0.871	0.981
A15	3	0.801	0.832
I5	3	0.798	0.827
L6	3	0.786	0.819
F68	3	0.773	0.773
L12	3	0.761	0.880
L9	3	0.728	0.876
L4	3	0.712	0.730
M115	3	0.587	0.587
F76	3	0.572	0.572
A13	2	0.837	0.840
A11	2	0.825	0.895
A7	2	0.804	0.900
E17	2	0.664	0.716
N80	2	0.579	0.579
V10	1	0.839	0.839
L14	1	0.803	0.803
V3	1	0.682	0.682

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Breast Invasive Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	8.53e-08
Kidney Renal Clear Cell Carcinoma (validation)	favorable	4.81e-05
Pancreatic Adenocarcinoma (TCGA)	unfavorable	0.000435

Disease associations

OMIM: gene MIM:115460 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
linalool	increases expression	1
Rosiglitazone	increases expression	1
Benzo(a)pyrene	affects methylation	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.