CD5L

Summary

CD5L (CD5 molecule like, HGNC:1690) is a protein-coding gene on chromosome 1q23.1, encoding CD5 antigen-like (O43866). Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflamed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis.

Predicted to be involved in cellular defense response. Predicted to act upstream of or within positive regulation of complement-dependent cytotoxicity and regulation of complement activation. Located in cell surface.

Source: NCBI Gene 922 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_005894

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1690
Approved symbol	CD5L
Name	CD5 molecule like
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Aliases	Spalpha
Ensembl gene	ENSG00000073754
Ensembl biotype	protein_coding
OMIM	602592
Entrez	922

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000368174, ENST00000484609

RefSeq mRNA: 2 — MANE Select: NM_005894 NM_001347698, NM_005894

CCDS: CCDS1171

Canonical transcript exons

ENST00000368174 — 6 exons

Exon	Start	End
ENSE00000449137	157835835	157836155
ENSE00000449138	157834407	157834748
ENSE00000788881	157833192	157833512
ENSE00001446488	157830911	157831968
ENSE00001446489	157841674	157841808
ENSE00003545998	157839384	157839410

Expression profiles

Bgee: expression breadth ubiquitous, 102 present calls, max score 97.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8355 / max 764.0012, expressed in 29 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15291	0.3338	19
15290	0.1753	19
15288	0.1475	16
15293	0.1021	14
15289	0.0432	8
15292	0.0186	5
15286	0.0067	2
15294	0.0045	2
15287	0.0038	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
spleen	UBERON:0002106	97.61	gold quality
trabecular bone tissue	UBERON:0002483	82.62	silver quality
liver	UBERON:0002107	82.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.12	gold quality
right lobe of liver	UBERON:0001114	75.19	gold quality
buccal mucosa cell	CL:0002336	73.16	silver quality
lymph node	UBERON:0000029	71.76	gold quality
bone marrow	UBERON:0002371	67.48	gold quality
gingival epithelium	UBERON:0001949	61.73	gold quality
gluteal muscle	UBERON:0002000	61.58	gold quality
triceps brachii	UBERON:0001509	61.51	gold quality
superficial temporal artery	UBERON:0001614	60.00	gold quality
bone marrow cell	CL:0002092	59.80	gold quality
oocyte	CL:0000023	59.72	gold quality
placenta	UBERON:0001987	58.87	gold quality
gingiva	UBERON:0001828	58.80	gold quality
pancreatic ductal cell	CL:0002079	58.09	silver quality
parietal pleura	UBERON:0002400	57.49	gold quality
pleura	UBERON:0000977	57.33	gold quality
visceral pleura	UBERON:0002401	57.13	gold quality
vermiform appendix	UBERON:0001154	56.62	gold quality
mucosa of sigmoid colon	UBERON:0004993	56.36	gold quality
corpus epididymis	UBERON:0004359	56.05	gold quality
cauda epididymis	UBERON:0004360	55.76	gold quality
endometrium epithelium	UBERON:0004811	55.56	gold quality
caput epididymis	UBERON:0004358	55.44	gold quality
cartilage tissue	UBERON:0002418	55.15	gold quality
apex of heart	UBERON:0002098	54.54	gold quality
myocardium	UBERON:0002349	54.51	gold quality
quadriceps femoris	UBERON:0001377	54.35	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-7407	yes	2149.41
E-MTAB-10553	yes	2075.56
E-HCAD-9	yes	24.06
E-ANND-3	yes	4.89
E-ENAD-17	no	30.37

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MAFB, PPARG, SPIC, SREBF1

miRNA regulators (miRDB)

75 targeting CD5L, 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-6851-5P	100.00	65.63	1294
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 28)

• Spalpha is an active constituent of the innate immune response of the host (PMID:16030018)
• CD5L and ApoE were significantly up-regulated or down-regulated, respectively, in the plasma from AD patients compared with that from healthy donors. (PMID:19116453)
• Dysregulation of myeloid cell populations by extracellular transgene Api6 signaling leads to abnormal myelopoiesis and lung cancer in bitransgenic mice. (PMID:19155514)
• AIM is involved in the progression of MetS in both an advancing and inhibitory fashion. Regulation of AIM could therefore be therapeutically applicable for MetS. (PMID:21970839)
• N-glycosylation plays important roles in the secretion and lipolytic function of AIM (PMID:23236605)
• AIM contributes to key macrophage responses to M. tuberculosis (PMID:24223991)
• Our data represent the first evidence that human AIM is involved in macrophage survival, adhesion, and foam cell formation (PMID:24295828)
• Apoptosis inhibitor of macrophage levels were markedly higher in patients with advanced liver damage, regardless of disease type, and correlated significantly with multiple parameters representing liver function. (PMID:25302503)
• CD36 is involved in autophagy; the CD5L-CD36 axis has a role in the induction of macrophage autophagy (PMID:25713983)
• CD5L is a key protein in the control of immune homeostasis and inflammatory disease. (Review) (PMID:26048980)
• The present study provides the first evidence that apoptosis inhibitor of macrophages binds to IGFBP2, 3 and 4. (PMID:26135353)
• AIM enhances intratubular debris clearance and ameliorates acute kidney injury via interaction with KIM-1. (PMID:26726878)
• Low serum AIM levels in patients who have previously experienced peritoneal dialysis-related peritonitis. (PMID:28743989)
• CD5L is upregulated in hepatocellular carcinoma. CD5L promotes liver cancer cell proliferation and antiapoptotic responses by binding to HSPA5. (PMID:29465313)
• this study shows that CD5L promotes M2 macrophage polarization through autophagy-mediated upregulation of ID3 (PMID:29593730)
• Taken together with our results on the aberrant ex vivo production of CD5L, this study has provided new evidence for the potential immunopathological role of CD5L in the exacerbation of SLE disease, and circulating concentration of CD5L may act as a potential disease marker for the monitoring of disease severity and therapeutic effects in SLE patients. (PMID:30173083)
• The present study is the first to document that CD5L release occurs in methicillin-resistant S. aureus (MRSA) pneumonia. It is interesting that treatment with antibody against CD5L can protect against MRSA, which was associated with an improvement of bacterial clearance and a reduction of inflammatory response. (PMID:30959370)
• Our study identifies CD5L as a key pleiotropic inhibitor of chronic liver injury. (PMID:31076347)
• Crucial Role of AIM/CD5L in the Development of Glomerular Inflammation in IgA Nephropathy. (PMID:32611589)
• The Role of Renal Macrophage, AIM, and TGF-beta1 Expression in Renal Fibrosis Progression in IgAN Patients. (PMID:34194427)
• Circulating CD5L is associated with cardiovascular events and all-cause mortality in individuals with chronic kidney disease. (PMID:34629330)
• CD5L Secreted by Macrophage on Atherosclerosis Progression Based on Lipid Metabolism Induced Inflammatory Damage. (PMID:35249136)
• Reduced Plasma Extracellular Vesicle CD5L Content in Patients With Acute-On-Chronic Liver Failure: Interplay With Specialized Pro-Resolving Lipid Mediators. (PMID:35330909)
• The comprehensive role of apoptosis inhibitor of macrophage (AIM) in pathological conditions. (PMID:36427004)
• [CD5L is elevated in the serum of patients with candidemia and promotes disease progression in mouse models]. (PMID:37087580)
• CD5L aggravates rheumatoid arthritis progression via promoting synovial fibroblasts proliferation and activity. (PMID:37191481)
• Apoptosis inhibitor of macrophage (AIM)/CD5L is involved in the pathogenesis of COPD. (PMID:37592330)
• AIM/CD5L ameliorates autoimmune arthritis by promoting removal of inflammatory DAMPs at the lesions. (PMID:38006711)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-51a6.2	ENSDARG00000030967
danio_rerio	si:dkey-14d8.20	ENSDARG00000045837
danio_rerio	si:ch73-127m5.1	ENSDARG00000060680
mus_musculus	Cd5l	ENSMUSG00000015854
rattus_norvegicus	Cd5l	ENSRNOG00000081265
drosophila_melanogaster	Loxl2	FBGN0034660

Paralogs (15): CD6 (ENSG00000013725), LGALS3BP (ENSG00000108679), CD5 (ENSG00000110448), LOX (ENSG00000113083), LOXL3 (ENSG00000115318), LOXL1 (ENSG00000129038), LOXL2 (ENSG00000134013), LOXL4 (ENSG00000138131), SSC4D (ENSG00000146700), PRSS12 (ENSG00000164099), CD163 (ENSG00000177575), CD163L1 (ENSG00000177675), SSC5D (ENSG00000179954), DMBT1 (ENSG00000187908), SCART1 (ENSG00000214279)

Protein

Protein identifiers

CD5 antigen-like — O43866 (reviewed: O43866)

Alternative names: Apoptosis inhibitor expressed by macrophages, CT-2, IgM-associated peptide, SP-alpha

All UniProt accessions (1): O43866

UniProt curated annotations — full annotation on UniProt →

Function. Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflamed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis. Able to inhibit lipid droplet size in adipocytes. Following incorporation into mature adipocytes via CD36-mediated endocytosis, associates with cytosolic FASN, inhibiting fatty acid synthase activity and leading to lipolysis, the degradation of triacylglycerols into glycerol and free fatty acids (FFA). CD5L-induced lipolysis occurs with progression of obesity: participates in obesity-associated inflammation following recruitment of inflammatory macrophages into adipose tissues, a cause of insulin resistance and obesity-related metabolic disease. Regulation of intracellular lipids mediated by CD5L has a direct effect on transcription regulation mediated by nuclear receptors ROR-gamma (RORC). Acts as a key regulator of metabolic switch in T-helper Th17 cells. Regulates the expression of pro-inflammatory genes in Th17 cells by altering the lipid content and limiting synthesis of cholesterol ligand of RORC, the master transcription factor of Th17-cell differentiation. CD5L is mainly present in non-pathogenic Th17 cells, where it decreases the content of polyunsaturated fatty acyls (PUFA), affecting two metabolic proteins MSMO1 and CYP51A1, which synthesize ligands of RORC, limiting RORC activity and expression of pro-inflammatory genes. Participates in obesity-associated autoimmunity via its association with IgM, interfering with the binding of IgM to Fcalpha/mu receptor and enhancing the development of long-lived plasma cells that produce high-affinity IgG autoantibodies. Also acts as an inhibitor of apoptosis in macrophages: promotes macrophage survival from the apoptotic effects of oxidized lipids in case of atherosclerosis. Involved in early response to microbial infection against various pathogens by acting as a pattern recognition receptor and by promoting autophagy. Promotes recovery from acute kidney injury (AKI) by accumulating on necrotic cell debris within the kidney proximal tubules following AKI and interacting with HAVCR1 expressed on the surface of injured kidney tubular epithelial cells. This enhances HAVCR1-mediated phagocytosis of intraluminal necrotic debris and contributes to kidney tissue repair. Also enhances necrotic debris uptake by kidney macrophages in a HAVCR1-independent manner.

Subunit / interactions. Interacts with FASN; the interaction is direct. Interacts (via SRCR2 and SRCR3) with pentameric IgM (via Fc region); disulfide-linked. Interacts with HAVCR1/KIM-1; interaction with HAVCR1 expressed on the surface of injured kidney tubular epithelial cells promotes HAVCR1-mediated phagocytosis of intraluminal necrotic debris and contributes to kidney tissue repair.

Subcellular location. Secreted. Cytoplasm.

Tissue specificity. Expressed in spleen, lymph node, thymus, bone marrow, and fetal liver, but not in non-lymphoid tissues.

Post-translational modifications. Not N-glycosylated. Probably not O-glycosylated.

RefSeq proteins (2): NP_001334627, NP_005885* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001190	SRCR	Domain
IPR036772	SRCR-like_dom_sf	Homologous_superfamily

Pfam: PF00530

UniProt features (37 total): disulfide bond 12, strand 10, helix 5, domain 3, mutagenesis site 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8WYR	ELECTRON MICROSCOPY	3.39
8WYS	ELECTRON MICROSCOPY	3.41
8R83	ELECTRON MICROSCOPY	3.57
8R84	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43866-F1	85.81	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 (12): 176–238, 191, 208–218, 253–287, 269–335, 282–345, 315–325, 33–67, 49–114, 62–124, 96–106, 163–228

Mutagenesis-validated functional residues (2):

Position	Phenotype
123	no effect; when associated with 129-a–a-132.
129–132	no effect; when associated with a-123.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-3000471	Scavenging by Class B Receptors

MSigDB gene sets: 134 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_INFLAMMATORY_RESPONSE, MODULE_64, GOCC_CELL_SURFACE, WIELAND_UP_BY_HBV_INFECTION, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_75, GOBP_COMPLEMENT_ACTIVATION, GOBP_HUMORAL_IMMUNE_RESPONSE, COATES_MACROPHAGE_M1_VS_M2_DN, VDR_Q3, GOBP_IMMUNE_EFFECTOR_PROCESS, GOBP_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE, GOBP_CELLULAR_DEFENSE_RESPONSE

GO Biological Process (8): immune system process (GO:0002376), apoptotic process (GO:0006915), inflammatory response (GO:0006954), cellular defense response (GO:0006968), response to wounding (GO:0009611), regulation of complement activation (GO:0030449), positive regulation of phagocytosis, engulfment (GO:0060100), positive regulation of complement-dependent cytotoxicity (GO:1903661)

GO Molecular Function (0):

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), plasma membrane (GO:0005886), cell surface (GO:0009986), blood microparticle (GO:0072562), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Binding and Uptake of Ligands by Scavenger Receptors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
defense response	2
biological_process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
response to stress	1
regulation of immune effector process	1
regulation of humoral immune response	1
complement activation	1
phagocytosis, engulfment	1
positive regulation of phagocytosis	1
regulation of phagocytosis, engulfment	1
positive regulation of membrane invagination	1
positive regulation of cell killing	1
complement-dependent cytotoxicity	1
regulation of complement-dependent cytotoxicity	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
extracellular region	1

Protein interactions and networks

STRING

1246 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD5L	CD5	P06127	857
CD5L	HSPA5	P11021	770
CD5L	CD68	P34810	721
CD5L	UGT1A1	P22309	713
CD5L	UGT1A10	Q9HAW8	667
CD5L	UGT1A8	Q9HAW9	667
CD5L	UGT1A7	Q9HAW7	665
CD5L	UGT1A6	P19224	649
CD5L	UGT1A4	P22310	649
CD5L	CLEC4F	Q8N1N0	617
CD5L	SPTA1	P02549	617
CD5L	SPTAN1	Q13813	614
CD5L	SCARB2	Q14108	593
CD5L	SCARB1	Q8WTV0	591
CD5L	CD36	P16671	591

IntAct

15 interactions, top by confidence:

A	B	Type	Score
	CD5L	psi-mi:“MI:0915”(physical association)	0.490
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
EBNA2	CD5L	psi-mi:“MI:0915”(physical association)	0.370
		psi-mi:“MI:0914”(association)	0.350
acnA	CD5L	psi-mi:“MI:0915”(physical association)	0.000
CD5L		psi-mi:“MI:0915”(physical association)	0.000
CD5L	hemL1	psi-mi:“MI:0915”(physical association)	0.000
CD5L	ssuA	psi-mi:“MI:0915”(physical association)	0.000
CD5L	supX	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A1L0T3, A1L4H1, D3ZTE0, G3V801, O08762, O43866, O75636, O95428, O97507, P00748, P22457, P56730, P58215, P69525, P69526, P85521, P98140, Q02853, Q04756, Q04962, Q24K22, Q2VL90, Q2VLG4, Q2VLG6, Q2VLH6, Q499S5, Q4G0T1, Q5G265, Q5G268, Q5G269, Q5G270, Q5G271, Q5IJ48, Q6QNF4, Q70UZ7, Q769J6, Q76LX8, Q7Z410, Q80YA8, Q80YC5

Diamond homologs: A1L0T3, A1L1V4, A1L4H1, A5PJQ2, A6H737, A7E3W2, B4F6N6, B5DF27, B8A4W9, E1C3U7, F1QQC3, F1RD85, F7J220, G3V801, M9NDE3, O08762, O43866, O70513, P21757, P21758, P30203, P30204, P30205, P56730, P58022, P58215, P70117, P85521, Q05585, Q07797, Q08380, Q08B63, Q14DK5, Q24JV9, Q2VL90, Q2VLG4, Q2VLG6, Q2VLH6, Q4A3R3, Q4G0T1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

777 predictions. Top by Δscore:

Variant	Effect	Δscore
1:157835834:CT:C	donor_gain	1.0000
1:157835833:A:AC	donor_gain	0.9900
1:157835834:C:CC	donor_gain	0.9900
1:157835834:CTCT:C	donor_gain	0.9900
1:157833443:C:CA	donor_gain	0.9800
1:157833510:GAT:G	acceptor_gain	0.9800
1:157833513:C:CC	acceptor_gain	0.9800
1:157833520:A:C	acceptor_gain	0.9800
1:157833534:C:CT	acceptor_gain	0.9800
1:157833535:A:T	acceptor_gain	0.9800
1:157841669:CTCA:C	donor_loss	0.9800
1:157841670:TCACC:T	donor_loss	0.9800
1:157841671:CAC:C	donor_loss	0.9800
1:157833509:GGAT:G	acceptor_gain	0.9700
1:157833510:GATC:G	acceptor_loss	0.9700
1:157833512:TCT:T	acceptor_loss	0.9700
1:157833513:C:A	acceptor_loss	0.9700
1:157833514:T:C	acceptor_loss	0.9700
1:157839411:C:CC	acceptor_gain	0.9700
1:157841666:ATACT:A	donor_loss	0.9700
1:157841668:ACT:A	donor_loss	0.9700
1:157841672:A:AC	donor_gain	0.9700
1:157841673:C:CC	donor_gain	0.9700
1:157841673:CCA:C	donor_gain	0.9700
1:157841673:CCAA:C	donor_gain	0.9700
1:157833520:A:AC	acceptor_gain	0.9600
1:157833540:T:TC	acceptor_gain	0.9600
1:157841665:GATAC:G	donor_loss	0.9600
1:157841667:TACT:T	donor_loss	0.9600
1:157833187:CTCA:C	donor_loss	0.9500

AlphaMissense

2243 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:157836052:C:A	W53C	0.998
1:157836052:C:G	W53C	0.998
1:157834648:C:A	W159C	0.996
1:157834648:C:G	W159C	0.996
1:157835924:C:G	C96S	0.996
1:157835925:A:T	C96S	0.996
1:157833287:C:G	C315S	0.995
1:157833288:A:T	C315S	0.995
1:157833436:C:A	W265C	0.995
1:157833436:C:G	W265C	0.995
1:157836026:C:G	C62S	0.995
1:157836027:A:T	C62S	0.995
1:157833257:C:G	C325S	0.994
1:157833258:A:T	C325S	0.994
1:157833412:C:A	W273C	0.994
1:157833412:C:G	W273C	0.994
1:157834412:C:G	C238S	0.994
1:157834413:A:T	C238S	0.994
1:157834624:C:A	W167C	0.994
1:157834624:C:G	W167C	0.994
1:157835894:C:G	C106S	0.994
1:157835895:A:T	C106S	0.994
1:157833386:C:G	C282S	0.993
1:157833387:A:T	C282S	0.993
1:157833425:C:T	C269Y	0.993
1:157833428:A:T	V268D	0.993
1:157833241:C:A	W330C	0.992
1:157833241:C:G	W330C	0.992
1:157834598:C:G	C176S	0.992
1:157834599:A:T	C176S	0.992

dbSNP variants (sampled 300 via entrez): RS1000005270 (1:157835376 A>G), RS1000101741 (1:157835123 C>G), RS1000246376 (1:157841266 T>C), RS1000330077 (1:157830192 A>G), RS1000394000 (1:157828417 A>T), RS1000434167 (1:157836724 T>C), RS1000619646 (1:157841565 C>A,G,T), RS1001039610 (1:157836729 G>A), RS1001658853 (1:157833851 T>C), RS1001892570 (1:157839966 C>T), RS1002320380 (1:157839632 G>A), RS1002342977 (1:157833026 G>C), RS1002527034 (1:157837707 A>G,T), RS1002558182 (1:157837454 C>A), RS1002639616 (1:157838935 G>A)

Disease associations

OMIM: gene MIM:602592 | 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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
Allergens	decreases expression	1
Cadmium	increases abundance, decreases expression	1
Folic Acid	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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