S100A7

Summary

S100A7 (S100 calcium binding protein A7, HGNC:10497) is a protein-coding gene on chromosome 1q21.3, encoding Protein S100-A7 (P31151).

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities.

Source: NCBI Gene 6278 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_002963

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10497
Approved symbol	S100A7
Name	S100 calcium binding protein A7
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	S100A7c
Ensembl gene	ENSG00000143556
Ensembl biotype	protein_coding
OMIM	600353
Entrez	6278

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000368722, ENST00000368723, ENST00000948759

RefSeq mRNA: 1 — MANE Select: NM_002963 NM_002963

CCDS: CCDS1039

Canonical transcript exons

ENST00000368723 — 3 exons

Exon	Start	End
ENSE00001447844	153457744	153457970
ENSE00001447846	153460608	153460651
ENSE00001604429	153458873	153459030

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 92.14.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 9.4151 / max 9789.0322, expressed in 101 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14628	9.3271	101
14626	0.0431	4
14627	0.0291	2
14625	0.0157	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	92.14	gold quality
zone of skin	UBERON:0000014	91.52	gold quality
skin of leg	UBERON:0001511	91.01	gold quality
lower esophagus mucosa	UBERON:0035834	90.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.92	gold quality
esophagus mucosa	UBERON:0002469	87.33	gold quality
vagina	UBERON:0000996	83.08	gold quality
epithelium of bronchus	UBERON:0002031	78.76	silver quality
tonsil	UBERON:0002372	76.45	gold quality
thymus	UBERON:0002370	73.65	gold quality
esophagus	UBERON:0001043	72.02	gold quality
ectocervix	UBERON:0012249	71.66	gold quality
minor salivary gland	UBERON:0001830	69.69	gold quality
dorsal plus ventral thalamus	UBERON:0001897	68.76	gold quality
uterine cervix	UBERON:0000002	68.50	gold quality
trachea	UBERON:0003126	68.03	gold quality
saliva-secreting gland	UBERON:0001044	66.56	gold quality
cerebellar hemisphere	UBERON:0002245	64.81	gold quality
cerebellar cortex	UBERON:0002129	64.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	64.22	gold quality
cerebellum	UBERON:0002037	64.19	gold quality
layer of synovial tissue	UBERON:0007616	64.02	gold quality
endometrium epithelium	UBERON:0004811	64.01	gold quality
quadriceps femoris	UBERON:0001377	63.94	gold quality
right coronary artery	UBERON:0001625	62.65	gold quality
vastus lateralis	UBERON:0001379	61.30	gold quality
frontal pole	UBERON:0002795	61.28	gold quality
endocervix	UBERON:0000458	60.30	gold quality
tibial nerve	UBERON:0001323	59.43	gold quality
middle frontal gyrus	UBERON:0002702	59.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	28070.90
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1, MBD2, MYC, NFKB

Literature-anchored findings (GeneRIF, showing 40)

• S100A7 expression appears to stabilize epidermal fatty acid binding protein level in keratinocytes (PMID:12839573)
• Aberrant expression of psoriasin is commonly seen in human breast cancer and excessively high levels are correlated with the clinical outcomes. (PMID:15201992)
• Psoriasin present in the amniotic fluid might have consequential immunobiological effects during the fetal development. (PMID:15615860)
• These results support the hypothesis that the mouse S100A7 gene is structurally and functionally similar to human S100A7 and may offer a relevant model system for studying its normal biological function and putative role in tumor progression. (PMID:15717926)
• Correlated with degree of differentiation. Absent in undifferentiated basalioma and strongly expressed in carcinoma in situ, keratoacanthoma, and differentiated squamous cell carcinoma. Expressed in superficial, differentiated region of normal epithelium. (PMID:15740587)
• Psoriasin is a potent chemotactic factor and its down-regulation during inflammation might be of importance for the outcome of the disease. (PMID:16236163)
• Over-expression of psoriasin is associated with breast tumor progression (PMID:16357139)
• segment from -1513 to -988 contains up-regulatory elements for the transcription activity of the S100A7 gene in oral squamous cell carcinoma cell (PMID:16675044)
• Increased Psoriasin expression is associated with acne pathogenesis. (PMID:17033192)
• the up-regulation of psoriasin might play a role in the progression of skin cancer. The expression of psoriasin in human skin tumours seems to be independent from differentiation and inflammation. (PMID:17136347)
• Central region of S100A7, including only amino acids 35-80, is sufficient for full antibacterial activity. Reduced S100A7 association with bacteria is associated with reduced antibacterial activity. (PMID:17159909)
• S100A7 was identified and validated as being associated with lung squamous cell carcinoma metastasis to the brain. (PMID:17418446)
• These results are consistent with a role for S100A7 in modulating the immune response which may be a factor in early breast tumor progression. (PMID:17560571)
• psoriasin expression is transcriptionally suppressed by IFN-gamma; this effect is likely to be mediated by the activation of the STAT1 signaling pathway (PMID:17986321)
• the pathway including S100A7/psoriasin and beta-catenin signaling has a role in tumor progression of squamous cell carcinoma of oral cavity (PMID:18223693)
• bacterial flagellin is essential and sufficient for the induction of S100A7c expression in keratinocytes by E. coli. (PMID:18263703)
• Overexpression of S100A7 is associated with breast cancer (PMID:18320059)
• Suggest S100A7 polymorphisms are associated with allergic rhinitis in Swedish population. (PMID:18373864)
• Expression of S100A7 and S100A8 was significantly decreased in CRS with and without nasal polyps when compared with controls. (PMID:18588753)
• study defines RAGE (receptor for advanced glycation end products) as the hS100A7 receptor, whereas hS100A15 functions through a Gi protein-coupled receptor; hS100A7-RAGE binding, signaling, and chemotaxis are zinc-dependent in vitro (PMID:18606705)
• The results suggest a role for S100A7 in recurrent tonsillitis and allergic disease. (PMID:18625016)
• A psoriasin assay might be considered as a rapid, noninvasive, useful salivary biomarker for the detection of pulmonary involvement in systemic sclerosis. (PMID:18634149)
• the antimicrobial protein psoriasin (S100A7) is upregulated in atopic dermatitis and after experimental skin barrier disruption (PMID:18754038)
• Psoriasin(S100A7) may be the key to the resistance of the human tongue toward E. coli. (PMID:19079183)
• S100A7 may have a role in Alzheimer’s disease (PMID:19159013)
• Psoriasin exerts pore-forming activity at pH values below 6 demonstrating that disruption of microbial membranes is the basis of its antimicrobial activity at low pH. (PMID:19162067)
• Psoriasin is overexpressed in epidermal keratinocytes in the epidermis of acne inversa lesions. (PMID:19249126)
• mRNA levels in cholesteatoma significantly higher than in normal external auditory canal skin (PMID:19707901)
• data suggest a complex interaction between S100A7 and the much larger Jab1. These studies form the basis for the development of small molecule reporters and modifiers of S100A7 form and function (PMID:19810752)
• Presented is a detailed structural characterization of a triple mutant form of S100A73 lacking the ability to bind Jab1. (PMID:19844956)
• Inflammatory cytokines oncostatin-M and interleukin-6 can regulate S100A7 expression and that S100A7 may mediate some of their effects in breast cancer. (PMID:20101226)
• Down-regulation of ICAM-1 in mammary epithelial cells may contribute both to the high expression of psoriasin seen in some high-grade ductal carcinoma in situ and to the induction of MUC1. (PMID:20217214)
• S100A7 showed significantly decreased expression in patients with chronic rhinosinusitis (PMID:20226301)
• contributes to the innate immune response of the female genital tract (PMID:20571488)
• nuclear accumulation of S100A7 may serve as predictor of poor prognosis in HNSCC patients (PMID:20689826)
• The combination of an increased expression of the antimicrobial peptide DEFA-4, the oncogene S100-A7, epidermal growth factor, and tenascin-c, and a decreased Doc-1 expression in oral leukoplakia might characterize its potency of malignant transformation. (PMID:20727496)
• These data identify a novel interaction between Psor and beta6 and demonstrate that it is required for alphavbeta6-dependent invasion by carcinoma cells. (PMID:21132011)
• Changes in the expression pattern of S100A7 seem to be involved in the development of gingival irritation fibromas, whereas chronic inflammation might be of less importance. (PMID:21187770)
• rhamnolipids enable the induction of the antimicrobial protein psoriasin by flagellin in human skin without direct contact of bacteria and responding cells. (PMID:21283546)
• S100A7/psoriasin is found to be upregulated and enhances the epithelial barrier function of the lower respiratory tract upon microbial challenge especially in presence of S aureus. (PMID:21324122)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	s100s	ENSDARG00000036773
danio_rerio	s100a10a	ENSDARG00000037425
danio_rerio	s100t	ENSDARG00000055589

Paralogs (21): CRNN (ENSG00000143536), S100A8 (ENSG00000143546), S100B (ENSG00000160307), S100A1 (ENSG00000160678), S100A11 (ENSG00000163191), S100A9 (ENSG00000163220), S100A12 (ENSG00000163221), S100P (ENSG00000163993), S100G (ENSG00000169906), S100Z (ENSG00000171643), S100A7A (ENSG00000184330), S100A3 (ENSG00000188015), S100A16 (ENSG00000188643), SNTN (ENSG00000188817), S100A13 (ENSG00000189171), S100A14 (ENSG00000189334), S100A4 (ENSG00000196154), S100A5 (ENSG00000196420), S100A2 (ENSG00000196754), S100A10 (ENSG00000197747), S100A6 (ENSG00000197956)

Protein

Protein identifiers

Protein S100-A7 — P31151 (reviewed: P31151)

Alternative names: Psoriasin, S100 calcium-binding protein A7

All UniProt accessions (1): P31151

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with RANBP9.

Subcellular location. Cytoplasm. Secreted.

Tissue specificity. Fetal ear, skin, and tongue and human cell lines. Highly up-regulated in psoriatic epidermis. Also highly expressed in the urine of bladder squamous cell carcinoma (SCC) bearing patients.

Similarity. Belongs to the S-100 family.

RefSeq proteins (1): NP_002954* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001751	S100/CaBP7/8-like_CS	Conserved_site
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR013787	S100_Ca-bd_sub	Domain
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR034325	S-100_dom	Domain

Pfam: PF01023

UniProt features (24 total): binding site 9, helix 6, domain 2, initiator methionine 1, chain 1, modified residue 1, disulfide bond 1, sequence variant 1, strand 1, turn 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
1PSR	X-RAY DIFFRACTION	1.05
2WND	X-RAY DIFFRACTION	1.6
4AQJ	X-RAY DIFFRACTION	1.6
2WOR	X-RAY DIFFRACTION	1.7
2WOS	X-RAY DIFFRACTION	1.7
2PSR	X-RAY DIFFRACTION	2.05
9N7G	X-RAY DIFFRACTION	2.33
3PSR	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P31151-F1	95.75	0.95

Functional residue map

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

Ligand- & substrate-binding residues (9): 74; 87; 91; 18; 25; 63; 65; 67; 69

Post-translational modifications (1): 2

Disulfide bonds (1): 47–96

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-6799990	Metal sequestration by antimicrobial proteins
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-6803157	Antimicrobial peptides

MSigDB gene sets: 153 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_REGULATION_OF_T_CELL_CHEMOTAXIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, JAEGER_METASTASIS_DN, GOCC_SECRETORY_GRANULE, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, ONDER_CDH1_TARGETS_3_DN, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (11): response to reactive oxygen species (GO:0000302), angiogenesis (GO:0001525), epidermis development (GO:0008544), positive regulation of T cell chemotaxis (GO:0010820), keratinocyte differentiation (GO:0030216), response to lipopolysaccharide (GO:0032496), endothelial cell migration (GO:0043542), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), positive regulation of ERK1 and ERK2 cascade (GO:0070374), positive regulation of granulocyte chemotaxis (GO:0071624), positive regulation of monocyte chemotaxis (GO:0090026)

GO Molecular Function (8): calcium ion binding (GO:0005509), zinc ion binding (GO:0008270), calcium-dependent protein binding (GO:0048306), RAGE receptor binding (GO:0050786), zinc ion sequestering activity (GO:0140486), protein binding (GO:0005515), metal ion binding (GO:0046872), transition metal ion binding (GO:0046914)

GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), focal adhesion (GO:0005925), extracellular matrix (GO:0031012), azurophil granule lumen (GO:0035578)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Innate Immune System	2
Antimicrobial peptides	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
response to oxygen-containing compound	2
positive regulation of leukocyte chemotaxis	2
metal ion binding	2
intracellular membrane-bounded organelle	2
cytoplasm	2
response to oxidative stress	1
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
tissue development	1
T cell chemotaxis	1
regulation of T cell chemotaxis	1
positive regulation of lymphocyte chemotaxis	1
positive regulation of T cell migration	1
epidermal cell differentiation	1
skin development	1
response to molecule of bacterial origin	1
response to lipid	1
cell migration	1
antimicrobial humoral response	1
positive regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
granulocyte chemotaxis	1
regulation of granulocyte chemotaxis	1
monocyte chemotaxis	1
positive regulation of mononuclear cell migration	1
regulation of monocyte chemotaxis	1
transition metal ion binding	1
calcium ion binding	1
protein binding	1
signaling receptor binding	1
zinc ion binding	1
metal ion sequestering activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
endomembrane system	1
cell-substrate junction	1
external encapsulating structure	1

Protein interactions and networks

STRING

1190 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
S100A7	S100A12	P80511	931
S100A7	DEFB4A	O15263	889
S100A7	AGER	Q15109	876
S100A7	DEFB103A	P81534	849
S100A7	S100A1	P23297	808
S100A7	DEFB1	P60022	801
S100A7	IL22	Q9GZX6	799
S100A7	RNASE7	P80927	796
S100A7	ITGB6	P18564	774
S100A7	FABP5	Q01469	770
S100A7	KRT16	P08779	737
S100A7	CAMP	P49913	715
S100A7	S100A9	P06702	698
S100A7	GOT2	P00505	683
S100A7	IL22RA1	Q8N6P7	682

IntAct

165 interactions, top by confidence:

A	B	Type	Score
IFIT1	IFIT3	psi-mi:“MI:0914”(association)	0.920
EIF4E2	GIGYF1	psi-mi:“MI:0914”(association)	0.730
L3MBTL2	E2F6	psi-mi:“MI:0914”(association)	0.730
CFTR	XPO1	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
AEBP2	EED	psi-mi:“MI:0914”(association)	0.650
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
S100A7	S100A7L2	psi-mi:“MI:0915”(physical association)	0.630
S100A7L2	S100A7	psi-mi:“MI:0915”(physical association)	0.630
STK4	STRN	psi-mi:“MI:0914”(association)	0.610
S100A7	CLVS2	psi-mi:“MI:0915”(physical association)	0.560
LIN9	MYBL1	psi-mi:“MI:0914”(association)	0.530
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
CA8	IGLL5	psi-mi:“MI:0914”(association)	0.530
ZNF354C	IPO8	psi-mi:“MI:0914”(association)	0.530
AIRE	ALOX12B	psi-mi:“MI:0914”(association)	0.530
MRPL38	DUSP14	psi-mi:“MI:0914”(association)	0.530
ZIC1	CTSV	psi-mi:“MI:0914”(association)	0.530
ZNF354C	LRP4	psi-mi:“MI:0914”(association)	0.530
RNF25	IVL	psi-mi:“MI:0914”(association)	0.530

BioGRID (209): S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A7 (Affinity Capture-MS)

ESM2 similar proteins: A5PJN0, A7K6Y8, A7K6Y9, F1SSF9, O73763, O76038, O77791, P05109, P06702, P27005, P28318, P28782, P31151, P31725, P33763, P45961, P50115, P50116, P50117, P63083, P63084, P79105, P80511, Q01449, Q06A97, Q0VFG3, Q14ST5, Q28050, Q3MHP3, Q4R6C5, Q5E9G1, Q5SY68, Q5XJX1, Q63ZJ3, Q6AXZ3, Q6DJ05, Q6S5I3, Q75KU4, Q803V3, Q86SG5

Diamond homologs: A7K6Y8, A7K6Y9, O77791, P02632, P02633, P02634, P22793, P24480, P29377, P31151, P31725, P50116, P50117, P79105, P80511, P97816, Q14ST5, Q28050, Q503K9, Q6S5I3, Q865V3, Q86SG5, Q8WXG8, O77691, P05964, P06703, P14069, P28318, P30801, P62818, P62819, Q2EN75, P31949, Q5SY68, P02638, P02639, P04163, P04271, P04631, P05942

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

415 predictions. Top by Δscore:

Variant	Effect	Δscore
1:153457966:TTGTC:T	acceptor_gain	1.0000
1:153457967:TGTC:T	acceptor_gain	1.0000
1:153457968:GTC:G	acceptor_gain	1.0000
1:153457969:TC:T	acceptor_gain	1.0000
1:153457970:CC:C	acceptor_gain	1.0000
1:153457970:CCT:C	acceptor_loss	1.0000
1:153457971:C:CC	acceptor_gain	1.0000
1:153458871:A:AC	donor_gain	1.0000
1:153458872:C:CC	donor_gain	1.0000
1:153458872:CA:C	donor_gain	1.0000
1:153457973:G:C	acceptor_gain	0.9900
1:153457973:G:GC	acceptor_gain	0.9900
1:153457987:A:C	acceptor_gain	0.9900
1:153458866:GAC:G	donor_loss	0.9900
1:153458867:A:AC	donor_gain	0.9900
1:153458867:AC:A	donor_loss	0.9900
1:153458868:C:CC	donor_gain	0.9900
1:153458868:C:CG	donor_loss	0.9900
1:153458869:TCAC:T	donor_loss	0.9900
1:153458870:C:CG	donor_loss	0.9900
1:153458871:A:C	donor_loss	0.9900
1:153458872:C:CT	donor_loss	0.9900
1:153458872:CACAG:C	donor_gain	0.9900
1:153458901:T:A	donor_gain	0.9900
1:153458905:T:TA	donor_gain	0.9900
1:153457968:GTCC:G	acceptor_gain	0.9800
1:153457969:TCCTG:T	acceptor_gain	0.9800
1:153457970:CCTGT:C	acceptor_gain	0.9800
1:153457971:C:T	acceptor_gain	0.9800
1:153458872:CACA:C	donor_gain	0.9800

AlphaMissense

694 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:153458963:A:C	F17L	0.974
1:153458963:A:T	F17L	0.974
1:153458965:A:G	F17L	0.974
1:153457896:A:C	F72L	0.957
1:153457896:A:T	F72L	0.957
1:153457898:A:G	F72L	0.957
1:153457887:A:C	F75L	0.949
1:153457887:A:T	F75L	0.949
1:153457889:A:G	F75L	0.949
1:153458894:G:C	F40L	0.920
1:153458894:G:T	F40L	0.920
1:153458896:A:G	F40L	0.920
1:153457935:A:C	F59L	0.904
1:153457935:A:T	F59L	0.904
1:153457937:A:G	F59L	0.904
1:153457864:G:T	A83D	0.902
1:153458993:C:A	E7D	0.895
1:153458993:C:G	E7D	0.895
1:153458886:A:G	F43S	0.888
1:153457865:C:G	A83P	0.884
1:153458885:G:C	F43L	0.870
1:153458885:G:T	F43L	0.870
1:153458887:A:G	F43L	0.870
1:153457888:A:G	F75S	0.868
1:153457897:A:G	F72S	0.847
1:153457897:A:C	F72C	0.839
1:153458895:A:G	F40S	0.837
1:153458964:A:G	F17S	0.836
1:153458985:A:T	I10K	0.834
1:153458994:T:A	E7V	0.834

dbSNP variants (sampled 300 via entrez): RS1001244208 (1:153458159 G>A,C), RS1001303149 (1:153457685 T>C), RS1003063975 (1:153461278 G>T), RS1003126161 (1:153461059 G>A), RS1003407265 (1:153460395 A>G), RS1003460232 (1:153460120 G>A), RS1005131602 (1:153459264 A>C), RS1005411660 (1:153458410 C>T), RS1005490458 (1:153459425 G>A), RS1007506791 (1:153457415 A>G), RS1007880564 (1:153459617 G>A,T), RS1009885868 (1:153457658 G>A), RS1009995950 (1:153462206 G>A,T), RS1010045895 (1:153461951 TAC>T,TACAC), RS1011682893 (1:153461032 A>G)

Disease associations

OMIM: gene MIM:600353 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_28	Blood protein levels	2.000000e-114

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	decreases expression, decreases reaction, affects cotreatment, increases expression	4
sodium arsenite	decreases expression, increases expression	3
Tretinoin	increases expression	3
Particulate Matter	increases abundance, increases expression, affects expression	3
Air Pollutants	decreases expression, affects expression, increases abundance	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
4-oxoretinoic acid	increases expression	1
potassium persulfate	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
hydroquinone	increases expression	1
lewisite	increases expression	1
CGP 52608	affects binding, increases reaction	1
tofacitinib	increases expression, decreases reaction	1
Aripiprazole	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Alitretinoin	increases expression	1
Antimony Potassium Tartrate	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Vehicle Emissions	increases abundance, increases expression	1
Cadmium	affects binding	1
Calcitriol	increases expression	1
Cycloheximide	decreases expression, decreases reaction	1
Diazinon	increases methylation	1
Estradiol	affects cotreatment, decreases expression, increases expression	1
Latex	increases expression	1
Ozone	affects cotreatment, increases expression	1
Perfume	increases expression	1

Clinical trials (associated diseases)

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