BPIFC

Summary

BPIFC (BPI fold containing family C, HGNC:16503) is a protein-coding gene on chromosome 22q12.3, encoding BPI fold-containing family C protein (Q8NFQ6).

Predicted to enable lipopolysaccharide binding activity and phospholipid binding activity. Predicted to be involved in defense response to Gram-negative bacterium and innate immune response. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space.

Source: NCBI Gene 254240 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Gene–disease (curated): trichilemmal cyst (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 76 total
• GTEx eGene: eQTL in 5 tissues, sQTL in 3 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.25 (unconstrained)
• MANE Select transcript: NM_174932
• Notable: 76 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16503
Approved symbol	BPIFC
Name	BPI fold containing family C
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	dJ149A16.7
Ensembl gene	ENSG00000184459
Ensembl biotype	protein_coding
OMIM	614109
Entrez	254240

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000300399

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 5: 2

ENST00000300399, ENST00000397450, ENST00000397452, ENST00000534972, ENST00001134029

RefSeq mRNA: 1 — MANE Select: NM_174932 NM_174932

CCDS: CCDS13906

Canonical transcript exons

ENST00000300399 — 17 exons

Exon	Start	End
ENSE00001109430	32432373	32432543
ENSE00001109432	32419362	32419404
ENSE00001109433	32431347	32431414
ENSE00001308590	32417085	32417148
ENSE00001315950	32415915	32415991
ENSE00001324245	32433719	32433772
ENSE00001528718	32461574	32461661
ENSE00003497126	32445841	32445996
ENSE00003606192	32453383	32453503
ENSE00003688112	32445635	32445698
ENSE00003691364	32447212	32447340
ENSE00003716064	32442671	32442731
ENSE00003719159	32437760	32437851
ENSE00003721370	32435704	32435880
ENSE00003757955	32457263	32457386
ENSE00003938421	32464374	32464446
ENSE00004783874	32413845	32414425

Expression profiles

Bgee: expression breadth broad, 79 present calls, max score 95.14.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0668 / max 18.3021, expressed in 21 samples.

Highest expression (Bgee): upper leg skin, skin of abdomen, zone of skin, skin of leg, mammalian vulva.

Genetic regulation across tissues (GTEx eQTL / sQTL)

BPIFC is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 5 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

8 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	sqtl	4.3e-97	+1.12	22:32413011:C:T
Skin Not Sun Exposed Suprapubic	sqtl	6.4e-80	+1.44	22:32413011:C:T
Nerve Tibial	eqtl	1.1e-58	+0.92	22:32508663:G:A
Skin Sun Exposed Lower leg	eqtl	3.9e-05	+0.09	22:32442507:A:C
Skin Not Sun Exposed Suprapubic	eqtl	9.1e-05	-0.12	22:32442268:A:G
Esophagus Mucosa	eqtl	7.1e-04	-0.21	22:32462694:A:G
Testis	eqtl	1.8e-03	-0.25	22:32471347:A:AATCTTCT
Testis	sqtl	4.9e-02	+1.32	22:33203563:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
193748	0.0668	21

Top tissues by expression

showing 100 of 213 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	95.14	gold quality
skin of abdomen	UBERON:0001416	91.32	gold quality
zone of skin	UBERON:0000014	90.86	gold quality
skin of leg	UBERON:0001511	90.32	gold quality
mammalian vulva	UBERON:0000997	88.78	gold quality
skin of hip	UBERON:0001554	88.29	gold quality
gingival epithelium	UBERON:0001949	86.51	gold quality
gingiva	UBERON:0001828	86.42	gold quality
penis	UBERON:0000989	84.89	gold quality
sperm	CL:0000019	84.00	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.48	gold quality
nipple	UBERON:0002030	79.19	gold quality
islet of Langerhans	UBERON:0000006	78.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.91	gold quality
body of tongue	UBERON:0011876	63.77	silver quality
tongue	UBERON:0001723	59.16	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	58.88	gold quality
lateral globus pallidus	UBERON:0002476	57.46	gold quality
left testis	UBERON:0004533	55.94	gold quality
right testis	UBERON:0004534	55.84	gold quality
lateral nuclear group of thalamus	UBERON:0002736	55.42	gold quality
testis	UBERON:0000473	55.30	gold quality
substantia nigra pars reticulata	UBERON:0001966	54.89	gold quality
pharyngeal mucosa	UBERON:0000355	53.68	gold quality
superior surface of tongue	UBERON:0007371	53.63	gold quality
buccal mucosa cell	CL:0002336	53.51	gold quality
dorsal plus ventral thalamus	UBERON:0001897	53.04	gold quality
ventral tegmental area	UBERON:0002691	52.86	gold quality
subthalamic nucleus	UBERON:0001906	52.82	gold quality
layer of synovial tissue	UBERON:0007616	52.02	gold quality
saphenous vein	UBERON:0007318	51.97	gold quality
pericardium	UBERON:0002407	51.91	gold quality
inferior vagus X ganglion	UBERON:0005363	51.78	gold quality
dorsal root ganglion	UBERON:0000044	51.69	gold quality
synovial joint	UBERON:0002217	51.69	gold quality
trigeminal ganglion	UBERON:0001675	51.64	gold quality
thymus	UBERON:0002370	51.62	gold quality
pylorus	UBERON:0001166	51.47	gold quality
renal medulla	UBERON:0000362	51.46	gold quality
medulla oblongata	UBERON:0001896	51.29	gold quality
pons	UBERON:0000988	51.22	gold quality
superior vestibular nucleus	UBERON:0007227	51.21	gold quality
cardia of stomach	UBERON:0001162	51.18	gold quality
trachea	UBERON:0003126	51.01	gold quality
cerebellar vermis	UBERON:0004720	50.97	gold quality
vena cava	UBERON:0004087	50.82	gold quality
substantia nigra pars compacta	UBERON:0001965	50.78	gold quality
amniotic fluid	UBERON:0000173	49.64	gold quality
pancreas	UBERON:0001264	48.07	gold quality
biceps brachii	UBERON:0001507	47.48	gold quality
urethra	UBERON:0000057	47.27	gold quality
tonsil	UBERON:0002372	46.83	gold quality
deltoid	UBERON:0001476	46.69	gold quality
quadriceps femoris	UBERON:0001377	45.99	gold quality
vastus lateralis	UBERON:0001379	45.88	gold quality
globus pallidus	UBERON:0001875	45.85	gold quality
jejunum	UBERON:0002115	45.61	gold quality
bone marrow	UBERON:0002371	45.51	gold quality
skeletal muscle tissue	UBERON:0001134	43.77	gold quality
medial globus pallidus	UBERON:0002477	43.42	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
esophagus squamous epithelium	UBERON:0006920	42.94	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
epithelium of nasopharynx	UBERON:0001951	42.30	gold quality
muscle tissue	UBERON:0002385	41.99	gold quality
cortical plate	UBERON:0005343	41.86	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
parietal lobe	UBERON:0001872	41.12	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
myocardium	UBERON:0002349	40.45	gold quality
mammary duct	UBERON:0001765	40.44	gold quality
placenta	UBERON:0001987	40.41	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
bronchus	UBERON:0002185	40.15	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
colonic mucosa	UBERON:0000317	40.03	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
vagina	UBERON:0000996	39.99	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
entorhinal cortex	UBERON:0002728	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
heart right ventricle	UBERON:0002080	39.79	gold quality
trabecular bone tissue	UBERON:0002483	39.78	gold quality
endothelial cell	CL:0000115	39.75	gold quality
bronchial epithelial cell	CL:0002328	39.65	gold quality
decidua	UBERON:0002450	39.65	gold quality
tendon of biceps brachii	UBERON:0008188	39.60	gold quality
parietal pleura	UBERON:0002400	39.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	39.40	gold quality
visceral pleura	UBERON:0002401	39.23	gold quality
postcentral gyrus	UBERON:0002581	39.23	gold quality
nasal cavity epithelium	UBERON:0005384	39.04	gold quality
corpus epididymis	UBERON:0004359	38.98	gold quality
tibia	UBERON:0000979	38.93	gold quality
bone marrow cell	CL:0002092	38.81	gold quality
seminal vesicle	UBERON:0000998	38.75	gold quality
caput epididymis	UBERON:0004358	38.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.41

HPA expression

RNA tissue specificity: Tissue enriched

39 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Skin 1	tissue	42.9
Breast	tissue	2.2
Hippocampal formation	tissue	1.3
Testis	tissue	1.1
Cerebral cortex	tissue	1.1
Occipital cortex	tissue	1.1
Cerebellum	tissue	1.0
Prefrontal cortex	tissue	0.9
Pons	tissue	0.8
Motor cortex	tissue	0.8
Basal ganglia	tissue	0.8
Hypothalamus	tissue	0.8
Substantia nigra	tissue	0.8
Ventral forebrain	tissue	0.8
Septum	tissue	0.8
Somatosensory cortex	tissue	0.8
Retrosplenial cortex	tissue	0.8
Insular cortex	tissue	0.8
Amygdala	tissue	0.7
Thalamus	tissue	0.7
Spinal cord	tissue	0.7
Entorhinal cortex	tissue	0.7
Retrosplenial and cingulate cortex	tissue	0.7
Periaqueductal gray	tissue	0.7
Temporal cortex	tissue	0.7
Putamen	tissue	0.6
Midbrain	tissue	0.6
Medulla oblongata	tissue	0.6
Superior colliculi	tissue	0.6
Corpus callosum	tissue	0.6
Tonsil	tissue	0.6
Olfactory bulb	tissue	0.6
Vagina	tissue	0.4
Skeletal muscle	tissue	0.2
Thymus	tissue	0.2
Frontal cortex	tissue	0.1
Placenta	tissue	0.1
Locus coeruleus	tissue	0.1
Caudate putamen	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 50; highest nTPM — Subiculum (1.3), Dorsal hippocampus (0.8), Ventral hippocampus (0.8), Dorsal spinal cord (0.7), Ventral spinal cord (0.7).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

showing 30 of 41 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-4720-3P	98.50	68.88	988
HSA-MIR-499B-5P	98.35	68.39	988

Functional genomics

gnomAD constraint: pLI 5.35e-17, LOEUF 1.25, missense Z 0.653 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000300399 — one region, missense o/e 0.97.

Literature-anchored findings (GeneRIF, showing 3)

• BPIL2maps to Chr 22q13. AA sequence is reported. (PMID:12185532)
• BPIFC c.3G>C mutation segregates with hereditary trichilemmal cysts in a large Chinese family. (PMID:31033252)
• Transcriptomic Analyses and Experimental Validation Identified Immune-Related lncRNA-mRNA Pair MIR210HG-BPIFC Regulating the Progression of Hypertrophic Cardiomyopathy. (PMID:38474063)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cetp	ENSDARG00000030872
mus_musculus	Bpifc	ENSMUSG00000050108
rattus_norvegicus	Bpifc	ENSRNOG00000022937

Paralogs (12): BPIFB2 (ENSG00000078898), CETP (ENSG00000087237), PLTP (ENSG00000100979), BPI (ENSG00000101425), BPIFB1 (ENSG00000125999), LBP (ENSG00000129988), BPIFA2 (ENSG00000131050), BPIFA3 (ENSG00000131059), BPIFB6 (ENSG00000167104), BPIFB3 (ENSG00000186190), BPIFB4 (ENSG00000186191), BPIFA1 (ENSG00000198183)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:3026884) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal locomotor behavior	1
impaired glucose tolerance	1
increased aggression	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
Sebastes schlegelii	A0A481NSZ4	35.7%	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
RFPL3S	ncRNA	10737
RFPL3	protein-coding	10738
RTCB	protein-coding	51493
SYN3-AS1	ncRNA	105373004
FBXO7	protein-coding	25793
SYN3	protein-coding	8224
LINC01640	ncRNA	105373006
TIMP3	protein-coding	7078
LARGE1	protein-coding	9215

Protein

Protein identifiers

BPI fold-containing family C protein — Q8NFQ6 (reviewed: Q8NFQ6)

Alternative names: Bactericidal/permeability-increasing protein-like 2

All UniProt accessions (3): A0A8C8NLL8, Q8NFQ6, Q5TI88

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Detected in the basal layer of the epidermis from inflammatory skin from psoriasis patients, but not in normal skin.

Similarity. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NFQ6-1	1	yes
Q8NFQ6-2	2

RefSeq proteins (1): NP_777592* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001124	Lipid-bd_serum_glycop_C	Domain
IPR017942	Lipid-bd_serum_glycop_N	Domain
IPR017943	Bactericidal_perm-incr_a/b_dom	Homologous_superfamily
IPR017954	Lipid-bd_serum_glycop_CS	Conserved_site
IPR030675	BPI/LBP	Family
IPR032942	BPI/LBP/Plunc	Family

Pfam: PF01273, PF02886

UniProt features (19 total): glycosylation site 10, sequence variant 4, splice variant 2, signal peptide 1, chain 1, disulfide bond 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFQ6-F1	82.60	0.51

Human Protein Atlas

Protein class: Predicted secreted proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Functional residue map

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

Disulfide bonds (1)

Type	Positions
Disulfide bond	161–200

Glycosylation sites (10)

Type	Positions
N-linked (glcnac…) asparagine	372, 415, 79, 92, 113, 213, 225, 257, 301, 355

Function

Pathways and Gene Ontology

Reactome pathways

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

MSigDB gene sets: 37 (showing top): GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOMF_LIPOPOLYSACCHARIDE_BINDING, GOMF_LIPID_BINDING, GOMF_PHOSPHOLIPID_BINDING, MIKKELSEN_MCV6_LCP_WITH_H3K27ME3, CHYLA_CBFA2T3_TARGETS_UP, LHX9_TARGET_GENES, MIR570_3P, MIR5688, MIR495_3P, MIR4755_5P, MIR5006_3P, MIR513B_5P, MIR6783_3P

GO Biological Process (4): innate immune response (GO:0045087), immune system process (GO:0002376), defense response to bacterium (GO:0042742), defense response to Gram-negative bacterium (GO:0050829)

GO Molecular Function (3): lipopolysaccharide binding (GO:0001530), phospholipid binding (GO:0005543), lipid binding (GO:0008289)

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

GO top-level categories

10 GO namespaces:

Category	Terms
lipid binding	2
immune response	1
defense response to symbiont	1
biological_process	1
defense response	1
response to bacterium	1
defense response to bacterium	1
carbohydrate derivative binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 242 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BPIFC	DEFB115	Q30KQ5	565
BPIFC	WFDC12	Q8WWY7	525
BPIFC	DEFB128	Q7Z7B8	514
BPIFC	PGLYRP3	Q96LB9	486
BPIFC	TMEM239	Q8WW34	468
BPIFC	DRC10	Q96DY2	455
BPIFC	CST5	P28325	412
BPIFC	PLEKHA4	Q9H4M7	372
BPIFC	BPIFA1	Q9NP55	365
BPIFC	THEM5	Q8N1Q8	355
BPIFC	FLG2	Q5D862	352
BPIFC	BPIFA3	Q9BQP9	328
BPIFC	FHIP2B	Q86V87	327
BPIFC	HRNR	Q86YZ3	324
BPIFC	CALHM4	Q5JW98	323

IntAct

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

2 partners by confidence:

Partner	Interaction type	MIscore	Records
HSPA2	physical association	0.400	1
METTL21C	physical association	0.400	1

BioGRID (3 interactions; top human partners by supporting records): HSPA2 (Affinity Capture-MS), METTL21C (Affinity Capture-MS), PARP6 (Proximity Label-MS)

Disease & clinical

Genetic variants

Variant evidence for BPIFC: 76 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	3
Benign	3

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 34 predictions of 1,114):

Position(s)	Effect	Δscore	Sites
22:32417149–32417150	acceptor_loss	1.0000	5
22:32432549	acceptor_gain	1.0000
22:32432552	acceptor_gain	1.0000
22:32432556–32432557	acceptor_gain	1.0000	2
22:32437862	acceptor_gain	1.0000
22:32453504–32453505	acceptor_loss	1.0000	6
22:32417149	acceptor_loss	0.9900
22:32419360–32419361	donor_loss	0.9900	5
22:32419405–32419406	acceptor_loss	0.9900	6
22:32431415–32431416	acceptor_loss	0.9900	6

AlphaMissense

397 missense substitutions predicted likely pathogenic (of 3,333 scored), across 166 residues. Top 20 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
C200	7	0.821	0.914
C161	7	0.811	0.891
N441	7	0.697	0.856
F407	6	0.853	0.927
W118	6	0.829	0.919
F383	6	0.770	0.862
D230	6	0.603	0.668
F172	5	0.853	0.886
F183	5	0.812	0.863
F80	5	0.751	0.863
F424	5	0.750	0.814
F70	5	0.749	0.833
F97	5	0.700	0.752
P438	5	0.610	0.629
F295	4	0.862	0.922
F434	4	0.820	0.890
F356	4	0.802	0.821
F252	4	0.793	0.833
P347	4	0.792	0.895
E425	4	0.787	0.862

HPA cancer prognostics

RNA cancer specificity: Group enriched (Head and Neck Squamous Cell Carcinoma, Skin Cutaneous Melanoma)

Disease associations

OMIM: gene MIM:614109 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
trichilemmal cyst	Limited	Autosomal dominant

Mondo (1): trichilemmal cyst (MONDO:0012328)

GWAS associations

1 associations:

Study	Trait	p-value
GCST010002_381	Refractive error	6e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenate	decreases expression, increases abundance	1
hydroquinone	increases expression	1
abrine	increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Tetrachlorodibenzodioxin	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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