CRISPLD2

Summary

CRISPLD2 (cysteine rich secretory protein LCCL domain containing 2, HGNC:25248) is a protein-coding gene on chromosome 16q24.1, encoding Cysteine-rich secretory protein LCCL domain-containing 2 (Q9H0B8). Promotes matrix assembly.

Predicted to enable glycosaminoglycan binding activity. Involved in face morphogenesis. Located in transport vesicle.

Source: NCBI Gene 83716 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 186 total — 1 pathogenic
• MANE Select transcript: NM_031476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25248
Approved symbol	CRISPLD2
Name	cysteine rich secretory protein LCCL domain containing 2
Location	16q24.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434B044, LGL1
Ensembl gene	ENSG00000103196
Ensembl biotype	protein_coding
OMIM	612434
Entrez	83716

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000262424, ENST00000563066, ENST00000564567, ENST00000565561, ENST00000566151, ENST00000566165, ENST00000566431, ENST00000566789, ENST00000567845, ENST00000569090, ENST00000569262, ENST00000904767, ENST00000941701, ENST00000941702, ENST00000941703

RefSeq mRNA: 1 — MANE Select: NM_031476 NM_031476

CCDS: CCDS10949

Canonical transcript exons

ENST00000262424 — 15 exons

Exon	Start	End
ENSE00001190484	84906588	84909508
ENSE00001712790	84872992	84873122
ENSE00001713046	84880509	84880584
ENSE00001756079	84873920	84873963
ENSE00001789997	84889230	84889363
ENSE00001796236	84877438	84877510
ENSE00002609311	84819985	84820133
ENSE00003461046	84866897	84867040
ENSE00003481278	84854729	84854829
ENSE00003494565	84868851	84868911
ENSE00003564720	84849385	84849517
ENSE00003590158	84838422	84838735
ENSE00003603579	84850568	84850683
ENSE00003643936	84845786	84845904
ENSE00003667043	84872442	84872508

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 99.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.2618 / max 2386.8499, expressed in 1341 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155350	35.9103	1330
155351	0.2945	169
207988	0.0570	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	99.74	gold quality
tibia	UBERON:0000979	99.38	gold quality
pericardium	UBERON:0002407	99.30	gold quality
left uterine tube	UBERON:0001303	98.89	gold quality
mucosa of stomach	UBERON:0001199	98.00	gold quality
mucosa of urinary bladder	UBERON:0001259	97.96	gold quality
tendon of biceps brachii	UBERON:0008188	97.88	gold quality
endocervix	UBERON:0000458	97.39	gold quality
skin of hip	UBERON:0001554	97.35	gold quality
gall bladder	UBERON:0002110	97.35	gold quality
urethra	UBERON:0000057	97.19	gold quality
cauda epididymis	UBERON:0004360	97.19	gold quality
prostate gland	UBERON:0002367	97.09	gold quality
urinary bladder	UBERON:0001255	96.81	gold quality
vena cava	UBERON:0004087	96.59	gold quality
placenta	UBERON:0001987	96.50	gold quality
myometrium	UBERON:0001296	96.47	gold quality
colonic epithelium	UBERON:0000397	96.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.06	gold quality
lower lobe of lung	UBERON:0008949	96.00	gold quality
lower esophagus	UBERON:0013473	96.00	gold quality
cardia of stomach	UBERON:0001162	95.83	gold quality
saphenous vein	UBERON:0007318	95.80	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.29	gold quality
body of uterus	UBERON:0009853	95.27	gold quality
superficial temporal artery	UBERON:0001614	95.26	gold quality
pylorus	UBERON:0001166	95.01	gold quality
dorsal root ganglion	UBERON:0000044	94.84	gold quality
right lung	UBERON:0002167	94.81	gold quality
upper lobe of lung	UBERON:0008948	94.75	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-GEOD-124858	yes	2347.55
E-CURD-126	yes	1121.96
E-GEOD-81547	yes	1064.12
E-ENAD-27	yes	706.29
E-MTAB-8142	yes	119.09
E-MTAB-8410	yes	54.96
E-GEOD-134144	yes	38.78
E-MTAB-6701	yes	38.60
E-GEOD-135922	yes	36.06
E-MTAB-6678	yes	28.48
E-CURD-46	yes	25.87
E-MTAB-9543	yes	14.10
E-MTAB-5061	yes	11.31
E-GEOD-130148	yes	5.84
E-HCAD-30	no	1592.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

99 targeting CRISPLD2, 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-3120-5P	100.00	65.56	965
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-370-5P	99.78	66.81	706

Literature-anchored findings (GeneRIF, showing 20)

• CRISPLD2 is expressed in the mandible, palate and nasopharynx regions during craniofacial development at E13.5-E17.5, respectively. Altogether, these data suggest that genetic variation in CRISPLD2 has a role in the etiology of NSCLP. (PMID:17616516)
• present work introduces mammal CRISPLD2 as a major serum protein that acts as a natural LPS antagonist and promises to be of considerable preventative value against endotoxic shock. (PMID:19864597)
• three SNPs in northern Chinese population found an association between these polymorphisms and NSCLP in both single-marker and haplotype analyses. data further strengthen the conclusion that altered CRISPLD2 is associated with NSCLP susceptibility. (PMID:20662919)
• results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P). (PMID:20815724)
• the present investigation did not support the hypothesis of the involvement of CRISPLD2 in nonsyndromic cleft lip and palate (PMID:21244519)
• These novel findings suggest that CRISPLD1 plays a role in Nonsyndromic cleft lip and palate (NSCLP) through the interaction with CRISPLD2 and folate pathway genes. (PMID:21254358)
• CRISPLD2 gene contributes to the etiology of NSCLP in the Northwestern Chinese population. SNP rs1546124 is significantly related to NSCLP, associated with both CL/P and CPO groups, and SNP rs4783099 is significantly associated with CPO. (PMID:21800413)
• There is a decreased expression of CRISPLD2 in septic shock and it is association with procalcitonin in sepsis. (PMID:23799041)
• Both LCCL-domains of human CRISPLD2 have high affinity for lipid A. (PMID:24090571)
• CRISPLD2 is a target of progesterone receptor and its expression is decreased in women with endometriosis. (PMID:24955763)
• findings define a role for LGL1 in fibroblast expansion and migration, epithelial cell migration, and mesenchymal-epithelial signaling, key processes in fetal lung development. (PMID:25480331)
• Results demonstrate genetic polymorphism of CRISPLD2 gene is associated with an increased risk of non-syndromic cleft lip with or without cleft palate. (PMID:25496823)
• Our data suggest that CRISPLD2 may have a unique anti-HMGB1 effect via miRNA155 and play an important role in immune balance. (PMID:26624800)
• Our results suggest that CRISPLD2 rs4783099 may represent a risk factor for NSCPO (non-syndromic oral clefts). (PMID:27328068)
• Data suggest that suppression of CRISPLD2 increases the risk of lung inflammation in early life and adulthood. (PMID:27597766)
• CRISPLD2 rs4783099 was associated with cleft lip and/or palate (CL/P) statistically (OR = 3.18, P < .01). Compared to genotype TT, genotypes CC and CT were correlated significantly (OR = 2.04, P = .04) with CL/P. No evidence showed an association between genetic variation at the CRISPLD2 locus and cleft palate only (CP). (PMID:29437515)
• we demonstrated that knockdown of Crispld2 in zebrafish alters neural crest cell migration patterns resulting in abnormal jaw and palate development. In this study, we performed RNA profiling in zebrafish embryos and identified 249 differentially expressed genes following knockdown of Crispld2. (PMID:29899370)
• Our findings suggest that using specific asthma characteristics, such as airway hyperresponsiveness, can help identify more genetically homogeneous asthma subgroups with genotype-phenotype associations that may not be observed in all children with asthma. CRISPLD2 also may be important for baseline lung function in individuals with asthma who also may have airway hyperresponsiveness. (PMID:31557467)
• Identification of Rac guanine nucleotide exchange factors promoting Lgl1 phosphorylation in glioblastoma. (PMID:34624316)
• Decreased CRISPLD2 expression impairs osteogenic differentiation of human mesenchymal stem cells during in vitro expansion. (PMID:37021796)

Cross-species orthologs

47 orthologs

Organism	Symbol	Gene ID
danio_rerio	crispld2	ENSDARG00000088595
mus_musculus	Crispld2	ENSMUSG00000031825
rattus_norvegicus	Crispld2	ENSRNOG00000016752
drosophila_melanogaster	Ag5r	FBGN0015010
drosophila_melanogaster	Ag5r2	FBGN0020508
drosophila_melanogaster	CG9400	FBGN0030562
drosophila_melanogaster	CG10651	FBGN0032853
drosophila_melanogaster	CG9822	FBGN0034623
drosophila_melanogaster	CG17974	FBGN0034624
drosophila_melanogaster	CG3640	FBGN0035042
drosophila_melanogaster	CG8072	FBGN0036070
drosophila_melanogaster	CG6628	FBGN0036072
drosophila_melanogaster	scpr-C	FBGN0037879
drosophila_melanogaster	scpr-B	FBGN0037888
drosophila_melanogaster	scpr-A	FBGN0037889
drosophila_melanogaster	CG8483	FBGN0038126
drosophila_melanogaster	CG30486	FBGN0050486
drosophila_melanogaster	antr	FBGN0050488
drosophila_melanogaster	CG31286	FBGN0051286
drosophila_melanogaster	CG32313	FBGN0052313
drosophila_melanogaster	CG32679	FBGN0052679
drosophila_melanogaster	CG34002	FBGN0054002
drosophila_melanogaster	CG17575	FBGN0250842
drosophila_melanogaster	CG42564	FBGN0260766
drosophila_melanogaster	CG42780	FBGN0261848
drosophila_melanogaster	CG43775	FBGN0264297
drosophila_melanogaster	CG43776	FBGN0264298
drosophila_melanogaster	CG43777	FBGN0264299
caenorhabditis_elegans		WBGENE00004742
caenorhabditis_elegans		WBGENE00007397
caenorhabditis_elegans		WBGENE00008027
caenorhabditis_elegans		WBGENE00008028
caenorhabditis_elegans		WBGENE00008029
caenorhabditis_elegans		WBGENE00008030
caenorhabditis_elegans		WBGENE00008625
caenorhabditis_elegans		WBGENE00009891
caenorhabditis_elegans		WBGENE00009895
caenorhabditis_elegans		WBGENE00009896
caenorhabditis_elegans		WBGENE00012816
caenorhabditis_elegans		WBGENE00013971
caenorhabditis_elegans		WBGENE00013972
caenorhabditis_elegans		WBGENE00015246
caenorhabditis_elegans		WBGENE00017055
caenorhabditis_elegans		WBGENE00017183
caenorhabditis_elegans		WBGENE00019178
caenorhabditis_elegans		WBGENE00019179
caenorhabditis_elegans		WBGENE00021780

Paralogs (13): CRISP3 (ENSG00000096006), R3HDML (ENSG00000101074), CRISPLD1 (ENSG00000121005), GLIPR2 (ENSG00000122694), CRISP2 (ENSG00000124490), CRISP1 (ENSG00000124812), PI15 (ENSG00000137558), GLIPR1 (ENSG00000139278), CLEC18B (ENSG00000140839), CLEC18A (ENSG00000157322), CLEC18C (ENSG00000157335), GLIPR1L1 (ENSG00000173401), GLIPR1L2 (ENSG00000180481)

Protein

Protein identifiers

Cysteine-rich secretory protein LCCL domain-containing 2 — Q9H0B8 (reviewed: Q9H0B8)

Alternative names: Cysteine-rich secretory protein 11, LCCL domain-containing cysteine-rich secretory protein 2

All UniProt accessions (7): Q9H0B8, A0A140VK80, H3BS62, H3BSZ9, H3BTI0, H3BTP0, J3QKP2

UniProt curated annotations — full annotation on UniProt →

Function. Promotes matrix assembly.

Subunit / interactions. Binds to heparin, dermatan sulfate and chondroitin sulfate.

Subcellular location. Secreted.

Similarity. Belongs to the CRISP family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9H0B8-1	1	yes
Q9H0B8-2	2
Q9H0B8-3	3
Q9H0B8-4	4
Q9H0B8-5	5

RefSeq proteins (1): NP_113664* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001283	CRISP-related	Family
IPR004043	LCCL	Domain
IPR014044	CAP_dom	Domain
IPR018244	Allrgn_V5/Tpx1_CS	Conserved_site
IPR035940	CAP_sf	Homologous_superfamily
IPR036609	LCCL_sf	Homologous_superfamily
IPR051957	CRISP-LCCL_domain	Family

Pfam: PF00188, PF03815

UniProt features (19 total): splice variant 6, disulfide bond 4, sequence variant 3, domain 3, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H0B8-F1	80.67	0.54

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 (4): 290–308, 312–332, 391–413, 417–440

Glycosylation sites (1): 27

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 202 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_BODY_MORPHOGENESIS, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, PEREZ_TP63_TARGETS, TGACCTY_ERR1_Q2, CHANDRAN_METASTASIS_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, WONG_ENDMETRIUM_CANCER_DN, GOBP_FACE_DEVELOPMENT, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOZGIT_ESR1_TARGETS_UP, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_HEAD_DEVELOPMENT

GO Biological Process (3): extracellular matrix organization (GO:0030198), lung development (GO:0030324), face morphogenesis (GO:0060325)

GO Molecular Function (2): glycosaminoglycan binding (GO:0005539), heparin binding (GO:0008201)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), transport vesicle (GO:0030133), extracellular matrix (GO:0031012), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular structure organization	1
external encapsulating structure organization	1
respiratory tube development	1
animal organ development	1
respiratory system development	1
anatomical structure morphogenesis	1
head morphogenesis	1
face development	1
carbohydrate derivative binding	1
glycosaminoglycan binding	1
sulfur compound binding	1
cellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
external encapsulating structure	1
secretory granule	1
cytoplasmic vesicle lumen	1
extracellular vesicle	1
intracellular organelle lumen	1
ficolin-1-rich granule	1

Protein interactions and networks

STRING

908 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CRISPLD2	IRF6	O14896	517
CRISPLD2	FOXE1	O00358	464
CRISPLD2	TULP2	O00295	424
CRISPLD2	MSX1	P28360	419
CRISPLD2	CRISP1	P54107	400
CRISPLD2	FOLR2	P14207	398
CRISPLD2	VAX1	Q5SQQ9	381
CRISPLD2	FAM185A	Q8N0U4	370
CRISPLD2	FOLR1	P15328	363
CRISPLD2	CRISP2	P16562	360
CRISPLD2	ANKRD63	C9JTQ0	357
CRISPLD2	CRISP3	P54108	356
CRISPLD2	KIAA0513	O60268	350
CRISPLD2	ABCA4	P78363	346
CRISPLD2	CCDC88B	A6NC98	333
CRISPLD2	AVPI1	Q5T686	333

IntAct

2 interactions, top by confidence:

A	B	Type	Score
IQCB1	PCP4L1	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): HSP90AB1 (Affinity Capture-MS), CRISPLD2 (Affinity Capture-MS)

ESM2 similar proteins: A4IIT5, A6QLZ7, D3YXF5, G5ECS8, G5EFD9, O01635, O18738, O73683, O75339, O80977, O93279, P00734, P00735, P05067, P08592, P10731, P12023, P18292, P19021, P19221, P53601, P79307, P90850, P93026, P97467, Q06481, Q09566, Q14118, Q17298, Q19AZ8, Q28056, Q28685, Q29243, Q3SZI1, Q4V9Y5, Q56ZQ3, Q5IS80, Q5R537, Q5RCB9, Q60495

Diamond homologs: A0A182GL09, A0A1S4EWW7, A0A218QX58, A9YME1, B9URJ1, C0ITL3, C8YJ99, D4P2Y4, O43692, P0DMB9, P0DPU0, P0DPU1, P0DPU2, P0DPU5, P0DPV2, P0DSI3, P10736, P10737, P35759, P35760, P35778, P35779, P35780, P35781, P35782, P35784, P35785, P35786, P35787, P81656, P81657, P83377, P85840, P86686, P86870, Q05108, Q05109, Q2L6Z1, Q32LB5, Q3KPV7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	125
Likely benign	20
Benign	12

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	Pathogenic

SpliceAI

2397 predictions. Top by Δscore:

Variant	Effect	Δscore
16:84820130:GGAG:G	donor_gain	1.0000
16:84820131:GAG:G	donor_gain	1.0000
16:84820131:GAGG:G	donor_gain	1.0000
16:84820133:GGT:G	donor_loss	1.0000
16:84820134:G:GG	donor_gain	1.0000
16:84845902:CAGGT:C	donor_loss	1.0000
16:84845903:AGGT:A	donor_loss	1.0000
16:84845904:GGTA:G	donor_loss	1.0000
16:84845905:G:GC	donor_loss	1.0000
16:84845906:T:A	donor_loss	1.0000
16:84849380:TGCA:T	acceptor_loss	1.0000
16:84849381:GCA:G	acceptor_loss	1.0000
16:84849382:CAGGT:C	acceptor_loss	1.0000
16:84849383:A:AT	acceptor_loss	1.0000
16:84849384:G:GC	acceptor_loss	1.0000
16:84849514:ACAG:A	donor_loss	1.0000
16:84849515:CAG:C	donor_loss	1.0000
16:84849516:AGGTA:A	donor_loss	1.0000
16:84849518:GTAA:G	donor_loss	1.0000
16:84850567:GATA:G	acceptor_gain	1.0000
16:84850682:AA:A	donor_gain	1.0000
16:84850684:G:GG	donor_gain	1.0000
16:84866888:A:AG	acceptor_gain	1.0000
16:84866888:AAT:A	acceptor_gain	1.0000
16:84866889:A:G	acceptor_gain	1.0000
16:84867039:GA:G	donor_gain	1.0000
16:84867041:G:GG	donor_gain	1.0000
16:84872439:CA:C	acceptor_loss	1.0000
16:84872440:A:AC	acceptor_loss	1.0000
16:84872507:GC:G	donor_gain	1.0000

AlphaMissense

3279 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:84845791:G:C	W82C	1.000
16:84845791:G:T	W82C	1.000
16:84845842:G:C	W99C	1.000
16:84845842:G:T	W99C	1.000
16:84849418:G:C	W131C	1.000
16:84849418:G:T	W131C	1.000
16:84850574:T:A	W167R	1.000
16:84850574:T:C	W167R	1.000
16:84850576:G:C	W167C	1.000
16:84850576:G:T	W167C	1.000
16:84845789:T:A	W82R	0.999
16:84845789:T:C	W82R	0.999
16:84845824:G:C	W93C	0.999
16:84845824:G:T	W93C	0.999
16:84845880:A:C	Q112P	0.999
16:84845881:G:C	Q112H	0.999
16:84845881:G:T	Q112H	0.999
16:84845884:C:A	N113K	0.999
16:84845884:C:G	N113K	0.999
16:84849416:T:A	W131R	0.999
16:84849416:T:C	W131R	0.999
16:84849461:T:A	C146S	0.999
16:84849462:G:C	C146S	0.999
16:84849485:T:A	C154S	0.999
16:84849486:G:C	C154S	0.999
16:84849500:T:A	C159S	0.999
16:84849500:T:C	C159R	0.999
16:84849501:G:A	C159Y	0.999
16:84849501:G:C	C159S	0.999
16:84849502:C:G	C159W	0.999

dbSNP variants (sampled 300 via entrez): RS1000014450 (16:84885181 G>A), RS1000023179 (16:84894926 C>A,T), RS1000040452 (16:84835264 A>G), RS1000043981 (16:84865992 A>C,G), RS1000070121 (16:84892669 AT>A), RS1000117458 (16:84887864 G>A), RS1000129619 (16:84848023 T>C), RS1000195387 (16:84824891 G>A,C), RS1000230269 (16:84870320 TG>T), RS1000233011 (16:84908800 T>C), RS1000259088 (16:84884951 C>G,T), RS1000274169 (16:84859101 G>A), RS1000314688 (16:84858974 G>A), RS1000328745 (16:84840877 T>C), RS1000342327 (16:84878117 G>A)

Disease associations

OMIM: gene MIM:612434 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000175_24	Height	8.000000e-07
GCST003817_13	Mortality in sepsis	6.000000e-06
GCST003832_13	Asthma (childhood onset)	9.000000e-06
GCST006479_122	Diverticular disease	2.000000e-10
GCST006585_1322	Blood protein levels	2.000000e-18
GCST008163_490	Height	1.000000e-06
GCST008839_84	Height	6.000000e-08
GCST011496_8	Abdominal aortic aneurysm	3.000000e-08
GCST012226_388	Waist circumference adjusted for body mass index	4.000000e-08
GCST90000025_103	Appendicular lean mass	2.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004352	mortality
EFO:0009959	diverticular disease
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	6
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
(+)-JQ1 compound	increases expression	3
Estradiol	decreases expression, affects expression, increases reaction, increases expression, affects cotreatment	3
Progesterone	affects cotreatment, increases expression	3
trichostatin A	affects expression, increases expression	2
Arsenic	decreases expression, increases abundance, affects cotreatment	2
Benzo(a)pyrene	decreases expression, affects methylation	2
Copper	decreases expression, increases expression, affects binding	2
Silicon Dioxide	decreases expression, increases expression	2
Cadmium Chloride	increases expression	2
Particulate Matter	affects cotreatment, increases abundance, increases expression	2
aristolochic acid I	decreases expression, increases expression	1
mivebresib	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	increases abundance, decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
didecyldimethylammonium	decreases expression	1
potassium chromate(VI)	decreases expression	1
hydroquinone	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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