LACRT

Summary

LACRT (lacritin, HGNC:16430) is a protein-coding gene on chromosome 12q13.2, encoding Extracellular glycoprotein lacritin (Q9GZZ8). Modulates secretion by lacrimal acinar cells.

The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium.

Source: NCBI Gene 90070 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_033277

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16430
Approved symbol	LACRT
Name	lacritin
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	LACRITIN
Ensembl gene	ENSG00000135413
Ensembl biotype	protein_coding
OMIM	607360
Entrez	90070

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000257867, ENST00000546721, ENST00000547511, ENST00000549816

RefSeq mRNA: 1 — MANE Select: NM_033277 NM_033277

CCDS: CCDS8883

Canonical transcript exons

ENST00000257867 — 5 exons

Exon	Start	End
ENSE00000920067	54631738	54631839
ENSE00000920068	54632241	54632381
ENSE00002417308	54634784	54634895
ENSE00003597761	54630811	54630953
ENSE00003616675	54633180	54633233

Expression profiles

Bgee: expression breadth broad, 24 present calls, max score 87.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5455 / max 757.1096, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131372	0.5455	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lacrimal gland	UBERON:0001817	87.50	gold quality
nasal cavity mucosa	UBERON:0001826	70.31	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	68.17	gold quality
buccal mucosa cell	CL:0002336	62.98	gold quality
parotid gland	UBERON:0001831	58.34	gold quality
heart right ventricle	UBERON:0002080	55.80	gold quality
nasal cavity epithelium	UBERON:0005384	51.72	gold quality
sperm	CL:0000019	49.69	gold quality
amniotic fluid	UBERON:0000173	48.59	gold quality
tonsil	UBERON:0002372	47.87	gold quality
tendon of biceps brachii	UBERON:0008188	47.87	gold quality
body of tongue	UBERON:0011876	46.64	gold quality
quadriceps femoris	UBERON:0001377	45.97	gold quality
vastus lateralis	UBERON:0001379	45.75	gold quality
skin of leg	UBERON:0001511	45.19	gold quality
sural nerve	UBERON:0015488	45.00	gold quality
stromal cell of endometrium	CL:0002255	44.60	gold quality
tongue	UBERON:0001723	44.01	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
oocyte	CL:0000023	43.15	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	42.71	gold quality
skeletal muscle tissue	UBERON:0001134	42.63	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
pharyngeal mucosa	UBERON:0000355	42.55	gold quality
myocardium	UBERON:0002349	42.04	gold quality
epithelium of nasopharynx	UBERON:0001951	42.03	gold quality
mammary duct	UBERON:0001765	41.65	gold quality
substantia nigra pars compacta	UBERON:0001965	41.61	gold quality
Brodmann (1909) area 23	UBERON:0013554	41.61	gold quality
cartilage tissue	UBERON:0002418	41.57	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

Literature-anchored findings (GeneRIF, showing 40)

• Lacritin binds several basment membrane components (collagen IV, nidogen, fibronectin, laminin-1). Also vitronectin, but not collagen I or heparin. Yet it is secreted apically and possibly may form non-covalent complexes with tear fibronectin. (PMID:11419941)
• Lacritin is detected in human tears and promotes tear secretion in vitro when added to rat lacrimal acinar cells via a pathway apparently independent of the M3 receptor. It is mitogenic at low ng/ml levels for salivary ductal cells. (PMID:11419941)
• Tissue microarray of seventy-five different human tissues, including mammary gland, detected expression only in lacrimal acinar and salivary ductal cells. Thyroid immunostaining was equivocal. These data agree with Clonetech RNA dot blot analysis. (PMID:11419941)
• Lacritin gene maps near but not within triple A syndome region. Alacrimia in triple a syndrome not due to mutation in lacritin gene. (PMID:12613904)
• expressed in human breast tumors, breast cancer cell lines, and normal breast (PMID:14574570)
• Lacritin is the sixth most common transcript in the human lacrimal gland based on EST sequencing, and is one of twenty-nine ’lacrimal preferred’ genes. (PMID:15851553)
• Lacritin is one of nine tear proteins downregulated in patients suffering from blepharitis, or inflammation of the eyelid often associated with dry eye. (PMID:15952718)
• Lacritin is detected by MS in meibomian gland secretions. (PMID:16488965)
• Lacritin is detected in human tears by mass spectometry from patients with pterygium. (PMID:16865190)
• Lacritin calcium signaling is inhibited by pertussis toxin, U73122 and Go 6976. (PMID:16923831)
• Lacritin displays restricted cell target specificity in a screen of 17 different cell types. It targets rat lacrimal acinar, human corneal epithelial (HCE-T), human salivary ductal (HSG) and human embryonal kidney cells (HEK293). (PMID:16923831)
• Lacritin signaling drives the formation of a Golgi PKCalpha/PLD1/PLCgamma2 complex. (PMID:16923831)
• Lacritin’s C-terminus is required for mitogenesis. C-10 is fully active, C-15 has approximately half the activity and C-20 is inactive. (PMID:16923831)
• Lacritin’s signaling and mitogenic responses are biphasic (1- 10 nM dose optimum). Its biphasic signaling includes rapid PKCalpha dephosphorylation, and PLD1, calcineurin and NFATC1 activation. (PMID:16923831)
• Lacritin-dependent mitogenesis is abrogated by siRNA depletion of NFATC1, mTOR and STIM1, but not TRPC1. Also cyclosporin and rapamycin inhibit. This same pattern is observed in affect on lacritin-stimulated COX2 mRNA expression. (PMID:16923831)
• Heparanase cleavage of SDC1 heparan sulfate chains is required for lacritin binding. This mechanism therefore forms a novel off/on switch for lacritin-dependent mitogenesis. (PMID:16982797)
• Lacritin binds a form of SDC1 that lacks or contains short heparan sulfate chains, as revealed by gel filtration of chemically cleaved chains. Also by binding studies with FGF2 purified SDC1 with or without heparitinase digestion. (PMID:16982797)
• Lacritin binds human SDC1, but not human SDC2 or SDC4. Lacritin C-5, C-10, N-15, N-24, but not C-25 binds SDC1. C-15 weakly binds. Thus the C-terminal mitogenic and SDC1 binding domains appear to be the same. (PMID:16982797)
• Lacritin mitogenesis and COX2 expression is abrogated when SDC1 (but not SDC2) is depleted by siRNA. Similarly siRNA depletion of HPSE1 (but not HPSE2) knocks out lacritin mitogenesis and can be rescued by exogenous HPSE1. (PMID:16982797)
• Lacritin was detected in monkey tear fluid. Among monkey ocular tissues, lacritin mRNA is highly expressed highly in lacrimal gland, somewhat less so in conjunctiva and meibomian gland, and slightly in corneal epithelium. (PMID:17850790)
• Lacritin from tears is deposited on all contact lenses tested, and one of 19 tear proteins identified. (PMID:18334948)
• In tears of patients with climatic droplet keratopathy, N-linked glycosylation of lacritin is decreased, although the quantity of lacritin is unaltered. (PMID:19714880)
• Lacritin was found to be decreased in tears of patients with contact lens related dry eye. (PMID:19770725)
• Monkey lacrimal acinar cells release lacritin upon carbachol stimulation. Pro-secretory signaling involves PKC and calcium, but not MAPK. (PMID:20375347)
• iTRAQ analysis suggests that lacritin is selectively deficient in tears of patients with aqueous deficient dry eye. (PMID:22736608)
• Horse lacritin is 45% identical to human, and shares a predicted amphipathic alpha helix important for cell targeting. (PMID:22871838)
• A direct ELISA was established to estimate lacritin levels in tears. An ELISA estimate of 4.2 ng lacritin per 100 ng total tear protein did not vary significantly among individuals of different ages (18 - 52 years), or gender. (PMID:22918641)
• Lacritin mRNA is the 24st most abundant in the lacrimal gland of Wolfring. Lacritin protein is detected by immunofluorescence. (PMID:22956620)
• Study involving 129 dry eye disease patients and 73 healthy controls, revealing significantly less tear lacritin in 95% of patients. Lacritin was one of seven proteins downregulated (PMID:23272196)
• Lacritin is 10-fold less in tears from individuals suffering from fungal keratitis, and is barely detectable in the initial stage of infection by Fusarium solani. Fungal keratitis accounts for half of all corneal ulcers in Africa and India. (PMID:23308132)
• Lacritin protein yields were improved primarily by hydrophobic or salt bridge mutagenesis and less so by elimination of rare codons. (PMID:23422824)
• Tissue transglutaminase promotes crosslinking of lacritin between K82 or K85 and Q106 - the latter residing in the SDC1 binding domain of lacritin necessary for cell targeting, thus inactivating lacritin. Tissue transglutaminase is thought to be upregulated in dry eye, the most common eye disease. (PMID:23425695)
• Lacritin stimulates tear protein secretion from lacrimal acinar cells stressed with inflammatory cytokines, however under the same conditions carbachol is completely ineffective. Inflammatory cytokines are elevated in dry eye, the most common eye disease. The implication is that topical lacritin might be an effective therapeutic for dry eye. (PMID:23482462)
• Targeting of heparanase-modified syndecan-1 by prosecretory mitogen lacritin requires conserved core GAGAL plus heparan and chondroitin sulfate as a novel hybrid binding site that enhances selectivity. (PMID:23504321)
• Lacritin rapidly and transiently accelerates autophagy to rid stressed cells of aggregated proteins. Lacritin also restores oxidative phosphorylation. LC3-II, in the absence of autophagic inhibitor, decreases as a consequence of rapidly increased flux. (PMID:23640897)
• Lacritin is a component of vampire bat saliva, as detected by mass spectrometry. (PMID:23748026)
• Genomic analysis expands the number of predicted lacritin orthologs, and suggests that secondary structure may be largely conserved. All currently known tear proteins predicted to be extracellular by GEO are assembled, and functions summarized. (PMID:23769845)
• the C terminus of lacritin is multifunctional by dose and proteolytic processing and appears to play a key role in the innate protection of the eye (PMID:24942736)
• cytoprotective effect of lacritin is mediated through Cyclooxygenase-2 (COX-2). (PMID:26670139)
• Data show increased levels of lysozyme C (LYZ), lacritin (LACRT) and zinc-alpha-2 glycoprotein 1 (AZGP1) in pooled tear fluid sample from Graves’ disease (GD) patients with moderate-to-severe Graves’ orbitopathy (GO) compared with GD patients without clinical signs of GO. (PMID:28419103)

Cross-species orthologs

0 orthologs

Paralogs (1): DCD (ENSG00000161634)

Protein

Protein identifiers

Extracellular glycoprotein lacritin — Q9GZZ8 (reviewed: Q9GZZ8)

All UniProt accessions (3): F8W0V3, Q9GZZ8, H0YI00

UniProt curated annotations — full annotation on UniProt →

Function. Modulates secretion by lacrimal acinar cells.

Subcellular location. Secreted.

Tissue specificity. Expressed in secretory granules of many acinar cells in lacrimal gland and in scattered acinar cells of salivary glands.

RefSeq proteins (1): NP_150593* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR043557	Dermcidin/Lacritin	Family

UniProt features (5 total): signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZZ8-F1	56.98	0.00

Functional residue map

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

Glycosylation sites (1): 119

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_SECRETORY_GRANULE, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MACROAUTOPHAGY, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_WOUND_HEALING

GO Biological Process (17): positive regulation of cell population proliferation (GO:0008284), epithelial structure maintenance (GO:0010669), positive regulation of macroautophagy (GO:0016239), calcium-mediated signaling (GO:0019722), negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665), calcineurin-NFAT signaling cascade (GO:0033173), protein localization to Golgi apparatus (GO:0034067), defense response to bacterium (GO:0042742), negative regulation of apoptotic process (GO:0043066), positive regulation of epithelial cell proliferation (GO:0050679), positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731), positive regulation of calcium-mediated signaling (GO:0050850), positive regulation of secretion (GO:0051047), positive regulation of release of sequestered calcium ion into cytosol (GO:0051281), positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054), tear secretion (GO:0070075), positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)

GO Molecular Function (4): collagen binding (GO:0005518), growth factor activity (GO:0008083), laminin-1 binding (GO:0043237), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), secretory granule (GO:0030141)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
tissue homeostasis	1
positive regulation of autophagy	1
macroautophagy	1
regulation of macroautophagy	1
intracellular signaling cassette	1
negative regulation of response to biotic stimulus	1
negative regulation of signal transduction	1
lipopolysaccharide-mediated signaling pathway	1
regulation of lipopolysaccharide-mediated signaling pathway	1
negative regulation of response to external stimulus	1
calcineurin-mediated signaling	1
protein localization to organelle	1
defense response	1
response to bacterium	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
positive regulation of cell population proliferation	1
epithelial cell proliferation	1
regulation of epithelial cell proliferation	1
positive regulation of protein phosphorylation	1
peptidyl-tyrosine phosphorylation	1
regulation of peptidyl-tyrosine phosphorylation	1
calcium-mediated signaling	1
regulation of calcium-mediated signaling	1
positive regulation of intracellular signal transduction	1
secretion	1
regulation of secretion	1
positive regulation of transport	1
release of sequestered calcium ion into cytosol	1
regulation of release of sequestered calcium ion into cytosol	1
positive regulation of calcium ion transmembrane transport	1
wound healing	1
positive regulation of epithelial cell proliferation	1
body fluid secretion	1
secretion by tissue	1
calcineurin-NFAT signaling cascade	1

Protein interactions and networks

STRING

388 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LACRT	CSPG5	O95196	911
LACRT	LCN1	P31025	851
LACRT	FBLN2	P98095	785
LACRT	SDC1	P18827	752
LACRT	LTF	P02788	744
LACRT	NID1	P14543	730
LACRT	PRR4	Q16378	665
LACRT	VTN	P01141	638
LACRT	LYZL1	Q6UWQ5	621
LACRT	SCGB1D1	O95968	620
LACRT	DCD	P58461	576
LACRT	LYZ	P00695	573
LACRT	OPRPN	P85047	571
LACRT	PIP	P12273	570
LACRT	ALS2CL	Q60I27	528

IntAct

95 interactions, top by confidence:

A	B	Type	Score
AEBP2	EED	psi-mi:“MI:0914”(association)	0.650
RPL10A	RRP8	psi-mi:“MI:0914”(association)	0.640
RAD23A	LACRT	psi-mi:“MI:0915”(physical association)	0.560
DDX31	IGLL5	psi-mi:“MI:0914”(association)	0.530
LACRT	PLXNA2	psi-mi:“MI:0914”(association)	0.530
HBM	SCGB2A1	psi-mi:“MI:0914”(association)	0.530
PPP1R3C	STBD1	psi-mi:“MI:0914”(association)	0.530
NEUROD1	TCF4	psi-mi:“MI:0914”(association)	0.530
CASP5	CASP4	psi-mi:“MI:0914”(association)	0.530
THUMPD2	SPDL1	psi-mi:“MI:0914”(association)	0.530
KATNA1	CCT7	psi-mi:“MI:0914”(association)	0.530
PCK2	IGHA1	psi-mi:“MI:0914”(association)	0.530
FN3KRP	LTF	psi-mi:“MI:0914”(association)	0.530
PRAP1	CD48	psi-mi:“MI:0914”(association)	0.530
RSPO1	C1QBP	psi-mi:“MI:0914”(association)	0.530
CASP5	ARHGAP44	psi-mi:“MI:0914”(association)	0.530
C22orf31	HDAC2	psi-mi:“MI:0914”(association)	0.530
EGFL8	MPO	psi-mi:“MI:0914”(association)	0.530
CIMIP2B	LACRT	psi-mi:“MI:0915”(physical association)	0.400
KSR1	DDX39A	psi-mi:“MI:0914”(association)	0.350
DND1	RPSA2	psi-mi:“MI:0914”(association)	0.350
POC5	DSC2	psi-mi:“MI:0914”(association)	0.350
SNX27	IGLL5	psi-mi:“MI:0914”(association)	0.350
POLL	SULT1C2	psi-mi:“MI:0914”(association)	0.350

BioGRID (130): LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), LACRT (Affinity Capture-MS), SDC1 (Affinity Capture-Western), TGM2 (Reconstituted Complex), LACRT (Affinity Capture-MS)

ESM2 similar proteins: A0A0D1CVX2, A0A0D1E6R6, A0A1D1V3Z0, A5HBE1, B5YWI0, B6KEU8, B6KJ32, B7UM99, C6UYL8, D1FQ14, D3QW22, G5EHI7, K9N4Q4, O00834, O00933, O46203, O75956, O84462, P03093, P03095, P05686, P06651, P0C9Z8, P0DJ90, P0DJ91, P0DJ92, P0DOJ1, P0DOJ2, P0DOJ3, P20290, P23117, P23118, P24608, P35939, P90661, Q06428, Q27002, Q27003, Q2KEJ2, Q3L6L8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

464 predictions. Top by Δscore:

Variant	Effect	Δscore
12:54633191:T:TA	donor_gain	1.0000
12:54630951:CATCT:C	acceptor_loss	0.9900
12:54630953:TC:T	acceptor_loss	0.9900
12:54630954:C:CC	acceptor_gain	0.9900
12:54630954:CTAG:C	acceptor_loss	0.9900
12:54630955:T:A	acceptor_loss	0.9900
12:54631736:A:AC	donor_gain	0.9900
12:54631737:C:CC	donor_gain	0.9900
12:54631840:C:CC	acceptor_gain	0.9900
12:54631867:A:T	acceptor_gain	0.9900
12:54632239:A:AC	donor_gain	0.9900
12:54632240:C:CC	donor_gain	0.9900
12:54632240:CT:C	donor_gain	0.9900
12:54632255:T:TA	donor_gain	0.9900
12:54632377:CTTAG:C	acceptor_gain	0.9900
12:54632378:TTAG:T	acceptor_gain	0.9900
12:54632379:TAG:T	acceptor_gain	0.9900
12:54632380:AGCTG:A	acceptor_loss	0.9900
12:54632381:GCTG:G	acceptor_loss	0.9900
12:54632382:C:CC	acceptor_gain	0.9900
12:54632383:T:A	acceptor_loss	0.9900
12:54633178:A:AC	donor_gain	0.9900
12:54633179:C:CC	donor_gain	0.9900
12:54633179:CAGGT:C	donor_gain	0.9900
12:54633231:CTT:C	acceptor_gain	0.9900
12:54633234:C:CC	acceptor_gain	0.9900
12:54633239:A:AC	acceptor_gain	0.9900
12:54633239:A:C	acceptor_gain	0.9900
12:54634780:TCACC:T	donor_loss	0.9900
12:54634781:CAC:C	donor_loss	0.9900

AlphaMissense

872 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:54634810:G:T	A11D	0.990
12:54634813:G:T	A10E	0.982
12:54631820:A:C	S91R	0.981
12:54631820:A:T	S91R	0.981
12:54631822:T:G	S91R	0.981
12:54634802:C:G	G14R	0.981
12:54634802:C:T	G14R	0.981
12:54634801:C:T	G14E	0.972
12:54634804:G:T	A13E	0.966
12:54634811:C:G	A11P	0.963
12:54634792:A:T	V17D	0.956
12:54634802:C:A	G14W	0.950
12:54631801:C:G	A98P	0.941
12:54634807:A:T	V12E	0.935
12:54634822:A:T	L7H	0.933
12:54634805:C:G	A13P	0.930
12:54634795:A:G	L16P	0.929
12:54634814:C:G	A10P	0.928
12:54634798:G:T	A15D	0.924
12:54634822:A:C	L7R	0.922
12:54634833:A:C	F3L	0.905
12:54634833:A:T	F3L	0.905
12:54634835:A:G	F3L	0.905
12:54631812:A:G	L94P	0.894
12:54634799:C:G	A15P	0.894
12:54631824:T:A	K90I	0.891
12:54634825:A:T	L6H	0.891
12:54631830:A:T	V88E	0.890
12:54630916:G:C	F131L	0.889
12:54630916:G:T	F131L	0.889

dbSNP variants (sampled 300 via entrez): RS1000594022 (12:54633766 G>A), RS1000951181 (12:54632674 A>G), RS1001132320 (12:54633987 A>T), RS1001278679 (12:54636514 T>C), RS1001429595 (12:54630774 C>T), RS1001565050 (12:54631009 C>A,T), RS1001599399 (12:54633052 C>T), RS1001813321 (12:54636734 G>A), RS1002401259 (12:54635550 T>C), RS1002672194 (12:54635183 G>A), RS1003237263 (12:54632244 G>A), RS1003515466 (12:54632009 T>C), RS1003876400 (12:54631929 C>A), RS1003919766 (12:54630885 C>T), RS1004025783 (12:54630347 A>C,G)

Disease associations

OMIM: gene MIM:607360 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
potassium persulfate	increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation	1

Clinical trials (associated diseases)

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