ANXA9

Summary

ANXA9 (annexin A9, HGNC:547) is a protein-coding gene on chromosome 1q21.3, encoding Annexin A9 (O76027). Plays a role in epidermal differentiation.

The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact.

Source: NCBI Gene 8416 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 69 total — 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_003568

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:547
Approved symbol	ANXA9
Name	annexin A9
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000143412
Ensembl biotype	protein_coding
OMIM	603319
Entrez	8416

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 23 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000368947, ENST00000474997, ENST00000887887, ENST00000887888, ENST00000887889, ENST00000887890, ENST00000887891, ENST00000887892, ENST00000887893, ENST00000887894, ENST00000887895, ENST00000887896, ENST00000887897, ENST00000887898, ENST00000887899, ENST00000887900, ENST00000887901, ENST00000887902, ENST00000887903, ENST00000887904, ENST00000887905, ENST00000887906, ENST00000926294, ENST00000926295

RefSeq mRNA: 1 — MANE Select: NM_003568 NM_003568

CCDS: CCDS975

Canonical transcript exons

ENST00000368947 — 14 exons

Exon	Start	End
ENSE00000959866	150984281	150984394
ENSE00000959867	150984586	150984676
ENSE00000959869	150986602	150986661
ENSE00000959870	150987872	150987956
ENSE00000959871	150988091	150988186
ENSE00000959872	150988283	150988341
ENSE00001044720	150982292	150982379
ENSE00001044725	150982487	150982583
ENSE00001072072	150994577	150994699
ENSE00001072077	150995260	150995634
ENSE00001150650	150986336	150986415
ENSE00001150706	150983090	150983180
ENSE00003501124	150983338	150983434
ENSE00003594813	150983975	150984069

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 94.15.

FANTOM5 (CAGE): breadth broad, TPM avg 5.4483 / max 136.0265, expressed in 518 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5170	3.8028	487
5168	1.2565	151
5166	0.1591	98
5169	0.1328	84
5167	0.0651	45
5165	0.0321	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	94.15	gold quality
body of pancreas	UBERON:0001150	90.96	gold quality
endometrium epithelium	UBERON:0004811	90.96	gold quality
right lobe of liver	UBERON:0001114	89.69	gold quality
skin of leg	UBERON:0001511	89.34	gold quality
skin of abdomen	UBERON:0001416	88.00	gold quality
pancreas	UBERON:0001264	87.72	gold quality
pancreatic ductal cell	CL:0002079	86.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.66	gold quality
zone of skin	UBERON:0000014	86.60	gold quality
amniotic fluid	UBERON:0000173	86.10	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.86	gold quality
metanephros cortex	UBERON:0010533	85.76	gold quality
left lobe of thyroid gland	UBERON:0001120	85.48	gold quality
right lobe of thyroid gland	UBERON:0001119	85.23	gold quality
thyroid gland	UBERON:0002046	84.95	gold quality
liver	UBERON:0002107	84.89	gold quality
esophagus mucosa	UBERON:0002469	84.88	gold quality
islet of Langerhans	UBERON:0000006	84.79	gold quality
adult mammalian kidney	UBERON:0000082	84.52	gold quality
oral cavity	UBERON:0000167	84.45	gold quality
cervix squamous epithelium	UBERON:0006922	83.93	gold quality
pharyngeal mucosa	UBERON:0000355	83.83	gold quality
penis	UBERON:0000989	83.15	gold quality
monocyte	CL:0000576	83.14	gold quality
buccal mucosa cell	CL:0002336	82.99	gold quality
mononuclear cell	CL:0000842	82.84	gold quality
leukocyte	CL:0000738	82.44	gold quality
epithelium of esophagus	UBERON:0001976	82.06	gold quality
tibial nerve	UBERON:0001323	81.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting ANXA9, 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-186-5P	99.99	70.83	3707
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-5094	98.63	67.11	1062
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-6757-5P	98.08	65.50	724
HSA-MIR-192-3P	97.52	67.66	1001
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-6892-5P	97.27	68.60	847
HSA-MIR-6849-3P	97.25	64.57	1371
HSA-MIR-5194	96.77	63.91	1021
HSA-MIR-3907	96.76	65.04	662
HSA-MIR-105-3P	89.64	64.48	52

Literature-anchored findings (GeneRIF, showing 40)

• Drosophila RhoA regulates the cytoskeleton and cell-cell adhesion in the developing epidermis. (PMID:12070092)
• While Rho1 protein is present throughout the cell, it accumulates apically, particularly at sites of cadherin-based adherens junctions. (PMID:12135916)
• Moesin functions antagonistically to the Rho pathway to maintain epithelial integrity (PMID:12511959)
• RhoA and Sb-sbd act in a common pathway during leg morphogenesis (PMID:14668391)
• role for Rho1 in regulating signaling events governing proper patterning during development (PMID:15649467)
• Taken together, these findings suggest that RhoGEF4 may participate in cytoskeleton-related cellular events by specifically activating RhoA in neuronal morphogenesis. (PMID:17011730)
• Reducing activity of Rho1 from somatic support cells suppressed the germ cell enclosure defects of the conditional Spitz allele. (PMID:17629483)
• In parallel to regulation of crb RNA and protein, Rho1 activity also signals through Rho-kinase (Rok) to induce apical constriction and cell shape change during invagination of salivary gland. (PMID:18585373)
• Results identify a cell-autonomous role for Dpp signaling in promoting and maintaining the elongated columnar shape of wing disc cells and suggest that Dpp signaling acts by regulating Rho1 and MRLC. (PMID:19366729)
• Results demonstrate that Rho1 is required to maintain adherens junction integrity independent of its role in sustaining apical cell tension. (PMID:19506041)
• in addition to its interaction with Mwh Rho1 has functions in wing planar polarity that are parallel to and upstream of fz. (PMID:19576201)
• Results establish Wash and Rho as regulators of both linear- and branched-actin networks, and suggest an Arp2/3-mediated mechanism for how cells might coordinately regulate these structures. (PMID:19633175)
• analysis of second-site noncomplementation screen for modifiers of Rho1 signaling during imaginal disc morphogenesis in Drosophila (PMID:19862331)
• disruption of Rho1 suppresses apical constriction and invagination in Adenomatous polyposis coli null cells (PMID:20102708)
• Results suggest that Crossveinless-c contributes to sprouting and subsequent growth of the anterior-posterior-oriented branches through negative regulation of Rho1. (PMID:20384791)
• Results suggest that Rho1 functions at the cell cortex to regulate JNK activity and implicate Rho1 and moesin in epithelial cell survival. (PMID:20404112)
• Continuous autophagy was required for integrin-mediated hemocyte spreading and Rho1-induced cell protrusions. (PMID:20498061)
• removal of a single copy of rho1 can suppress the pak phenotype (PMID:21098722)
• This study revealed a novel mechanism for controlling salivary gland lumen size, namely through Rho1-dependent actin polymerization and distribution and downregulation of apical phosphorylated moesin. (PMID:22071107)
• The RhoA fails to form a compact ring in late cytokinesis after Sti depletion, and this function requires Sti kinase activity. (PMID:22084308)
• Moesin interacts with an unusual RhoGAP, Conundrum (Conu), and recruits it to the cell cortex to negatively regulate RhoA activity. (PMID:23468526)
• Galpha73B is a downstream effector of JAK/STAT signaling and a regulator of Rho1 in Drosophila hematopoiesis. (PMID:24163435)
• As tension in the epithelial layer increases, Rho kinase signaling activates myosin assembly and contraction in the developing Drosophila egg chamber. (PMID:24943847)
• This work identifies spatially distinct functions for Rho1 in the regulation of DE-cadherin-containing vesicular trafficking during adherens junctions remodeling in live epithelia. (PMID:25079692)
• impaired Hippo signaling induces JNK activation through Rho1. (PMID:25583514)
• Developmental hemocyte migration requires the interaction of Rho1 with its downstream effector Wash, a Wiskott-Aldrich syndrome family protein. (PMID:25739458)
• Study identified circadian rhythms in Rho1 GTPase activity in s-LNv axons that are regulated by rhythmic transcription of Pura, a Rho1 GEF. Pura activates Rho1 to retract s-LNv axons, decrease active zone numbers and reduce s-LNvs’ influence on the clock network. Thus, study links transcription, plasticity, network hierarchy and behavior. (PMID:26234154)
• Modular activation of Rho1 by GPCR signalling imparts polarized myosin II activation during morphogenesis (PMID:26780298)
• Recruitment of active Rho1 to the fused vesicle triggers activation of the formin Diaphanous and actin nucleation. (PMID:29496739)
• Microtubule plus-end-associated centralspindlin recruits a cortical pool of Drosophila melanogaster ECT2 upon physical contact to activate RhoA and to trigger localized contractility. (PMID:30758285)
• Rho1 activation recapitulates early gastrulation events in the ventral, but not dorsal, epithelium of Drosophila embryos. (PMID:33200987)
• The Pebble/Rho1/Anillin pathway controls polyploidization and axonal wrapping activity in the glial cells of the Drosophila eye. (PMID:33581137)
• Combinatorial patterns of graded RhoA activation and uniform F-actin depletion promote tissue curvature. (PMID:34124762)
• Septins regulate border cell surface geometry, shape, and motility downstream of Rho in Drosophila. (PMID:37329886)
• PFTK1 kinase regulates axogenesis during development via RhoA activation. (PMID:37907898)
• examination of atypical properties (PMID:12832069)
• Annexin A9 and periplakin co-localise in the epidermis and annexin A9 is up-regulated in differentiating keratinocytes, but the epidermal annexin A9 expression does not require periplakin. (PMID:22841549)
• inhibiting ANXA9 in HCT116 cells, the activity and metastatic and invasion capacity of cells decreased significantly, and expression levels of ADAM metallopeptidase domain 17 and matrix metallopeptidase 9 were significantly downregulated, while the expression levels of tissue inhibitors of metalloproteinases1 and Ecadherin were upregulated (P<0.05). (PMID:29393380)
• Hsa-miR-105-1 Regulates Cisplatin-Resistance in Ovarian Carcinoma Cells by Targeting ANXA9. (PMID:33680718)
• High Expression of Annexin A9 Promotes Cell Proliferation and Migration in Gastric Cancer via the TGF-beta Signaling Pathway. (PMID:34587407)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	anxa13l	ENSDARG00000013613
danio_rerio	anxa13	ENSDARG00000013976
danio_rerio	anxa14	ENSDARG00000100104
mus_musculus	Anxa9	ENSMUSG00000015702
rattus_norvegicus	Anxa9	ENSRNOG00000021134
drosophila_melanogaster	AnxB9	FBGN0000083
drosophila_melanogaster	AnxB11	FBGN0030749

Paralogs (12): ANXA13 (ENSG00000104537), ANXA10 (ENSG00000109511), ANXA11 (ENSG00000122359), ANXA1 (ENSG00000135046), ANXA7 (ENSG00000138279), ANXA3 (ENSG00000138772), ANXA5 (ENSG00000164111), ANXA2 (ENSG00000182718), ANXA4 (ENSG00000196975), ANXA6 (ENSG00000197043), ANXA8L1 (ENSG00000264230), ANXA8 (ENSG00000265190)

Protein

Protein identifiers

Annexin A9 — O76027 (reviewed: O76027)

Alternative names: Annexin XXXI, Annexin-31, Annexin-9, Pemphaxin

All UniProt accessions (1): O76027

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in epidermal differentiation. Can bind acetylcholine.

Subunit / interactions. Homodimer. Interacts with PPL; could play a role in epidermal differentiation.

Subcellular location. Lateral cell membrane.

Tissue specificity. Expressed in the stratified squamous skin epithelium, but not in epithelia of other types (at protein level).

Miscellaneous. Targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes.

Similarity. Belongs to the annexin family.

RefSeq proteins (1): NP_003559* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001464	Annexin	Family
IPR009116	ANX9	Family
IPR018252	Annexin_repeat_CS	Conserved_site
IPR018502	Annexin_repeat	Repeat
IPR037104	Annexin_sf	Homologous_superfamily

Pfam: PF00191

UniProt features (11 total): sequence variant 6, repeat 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76027-F1	90.51	0.83

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 149 (showing top): MODULE_418, GOBP_SYNAPTIC_TRANSMISSION_CHOLINERGIC, GOCC_CELL_SURFACE, TGACCTY_ERR1_Q2, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, DOANE_RESPONSE_TO_ANDROGEN_DN, SMID_BREAST_CANCER_LUMINAL_B_UP, ENGELMANN_CANCER_PROGENITORS_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_SYNAPTIC_SIGNALING, LYF1_01, CCCNNGGGAR_OLF1_01

GO Biological Process (3): cell adhesion (GO:0007155), cell-cell adhesion (GO:0098609), synaptic transmission, cholinergic (GO:0007271)

GO Molecular Function (6): phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), phospholipid binding (GO:0005543), calcium-dependent phospholipid binding (GO:0005544), acetylcholine receptor activity (GO:0015464), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), cell surface (GO:0009986), vesicle membrane (GO:0012506), lateral plasma membrane (GO:0016328), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
phospholipid binding	2
cellular process	1
cell adhesion	1
chemical synaptic transmission	1
anion binding	1
modified amino acid binding	1
metal ion binding	1
lipid binding	1
transmembrane signaling receptor activity	1
synaptic transmission, cholinergic	1
acetylcholine binding	1
postsynaptic neurotransmitter receptor activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
organelle membrane	1
vesicle	1
plasma membrane	1
cell junction	1

Protein interactions and networks

STRING

830 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANXA9	TMEM60	Q9H2L4	480
ANXA9	DSG3	P32926	447
ANXA9	DSG1	Q02413	447
ANXA9	DSG4	Q86SJ6	447
ANXA9	S100A10	P08206	431
ANXA9	C6orf132	Q5T0Z8	419
ANXA9	PPL	O60437	416
ANXA9	DSC3	Q14574	413
ANXA9	SLC27A3	Q5K4L6	386
ANXA9	EGFR	P00533	381
ANXA9	PRR15	Q8IV56	377
ANXA9	IGSF9	Q9P2J2	372
ANXA9	GAPDH	P00354	368
ANXA9	BCL2	P10415	368
ANXA9	APOBEC2	Q9Y235	353

IntAct

18 interactions, top by confidence:

A	B	Type	Score
ANXA9	PPL	psi-mi:“MI:0914”(association)	0.660
ANXA9	PPL	psi-mi:“MI:0915”(physical association)	0.660
PPL	ANXA9	psi-mi:“MI:0915”(physical association)	0.660
ANXA9	PPL	psi-mi:“MI:0403”(colocalization)	0.660
PPL	ANXA9	psi-mi:“MI:0403”(colocalization)	0.660
ANXA9	TRIM69	psi-mi:“MI:0915”(physical association)	0.400
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
C18orf21	A2ML1	psi-mi:“MI:0914”(association)	0.350
SMPD2	A2ML1	psi-mi:“MI:0914”(association)	0.350
NDUFA4L2	ANXA9	psi-mi:“MI:0915”(physical association)	0.000
ARHGEF10L	ANXA9	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (42): TRIM69 (Affinity Capture-MS), ANXA9 (Synthetic Lethality), ANXA9 (Two-hybrid), ANXA9 (Affinity Capture-MS), TRIM69 (Affinity Capture-MS), LYG2 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), HIST2H3PS2 (Affinity Capture-MS), ARL8B (Affinity Capture-MS), DNASE1L2 (Affinity Capture-MS), ACPP (Affinity Capture-MS), CRYAB (Affinity Capture-MS), ANXA9 (Affinity Capture-MS), CLMN (Affinity Capture-MS), TRIM29 (Affinity Capture-MS)

ESM2 similar proteins: A0A4X1T4U3, A2SW69, A5A6L7, A6H603, A6NMY6, C1L7Y4, O35640, O76027, O97529, P04272, P07355, P07356, P13928, P14950, P17785, P19620, P21671, P24551, P24801, P27006, P51074, P51901, P58107, P93157, Q07936, Q2Q1M6, Q3ZBE0, Q3ZC08, Q5R5A0, Q5VT79, Q66KB7, Q6NVG1, Q6TEQ7, Q86U10, Q86VI3, Q8MIR4, Q8R0W0, Q8SPR7, Q92040, Q92108

Diamond homologs: A2SW69, A5A6L7, A5A6M2, A6NMY6, C0HJG9, C1L7Y4, C4QH88, O35639, O35640, O76027, O97529, P04083, P04272, P07150, P07355, P07356, P08132, P08133, P08758, P09525, P10107, P12429, P13214, P13928, P14087, P14668, P14669, P14824, P14950, P17153, P17785, P19619, P19620, P20072, P20073, P22464, P22465, P24551, P24639, P24801

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	52
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	Likely pathogenic

SpliceAI

1754 predictions. Top by Δscore:

Variant	Effect	Δscore
1:150982375:TCTGA:T	donor_gain	1.0000
1:150982378:GA:G	donor_gain	1.0000
1:150982379:AG:A	donor_loss	1.0000
1:150982380:G:GG	donor_gain	1.0000
1:150982381:T:A	donor_loss	1.0000
1:150983085:CCCA:C	acceptor_loss	1.0000
1:150983086:CCA:C	acceptor_loss	1.0000
1:150983087:CAG:C	acceptor_loss	1.0000
1:150983088:A:AG	acceptor_gain	1.0000
1:150983088:A:T	acceptor_loss	1.0000
1:150983088:AG:A	acceptor_gain	1.0000
1:150983088:AGG:A	acceptor_gain	1.0000
1:150983089:G:GA	acceptor_gain	1.0000
1:150983089:GG:G	acceptor_gain	1.0000
1:150983089:GGG:G	acceptor_gain	1.0000
1:150983089:GGGC:G	acceptor_gain	1.0000
1:150983089:GGGCA:G	acceptor_gain	1.0000
1:150983176:GCAAG:G	donor_gain	1.0000
1:150983177:CAAG:C	donor_loss	1.0000
1:150983178:AAGGT:A	donor_loss	1.0000
1:150983179:AGGTA:A	donor_loss	1.0000
1:150983181:GTAG:G	donor_loss	1.0000
1:150983182:T:A	donor_loss	1.0000
1:150983333:CACA:C	acceptor_loss	1.0000
1:150983335:CA:C	acceptor_loss	1.0000
1:150983336:A:AG	acceptor_gain	1.0000
1:150983336:A:C	acceptor_loss	1.0000
1:150983337:G:GA	acceptor_gain	1.0000
1:150983337:GACT:G	acceptor_gain	1.0000
1:150983431:CAAGG:C	donor_loss	1.0000

AlphaMissense

2237 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:150994658:T:C	F312L	0.984
1:150994660:C:A	F312L	0.984
1:150994660:C:G	F312L	0.984
1:150994623:G:C	R300P	0.969
1:150988325:T:C	L279P	0.968
1:150995302:T:C	C340R	0.968
1:150995314:G:C	D344H	0.966
1:150984014:G:C	R71P	0.965
1:150988315:G:C	A276P	0.965
1:150983383:T:C	F41L	0.964
1:150983385:C:A	F41L	0.964
1:150983385:C:G	F41L	0.964
1:150984030:G:C	R76S	0.964
1:150984030:G:T	R76S	0.964
1:150984049:T:C	F83L	0.964
1:150984051:C:A	F83L	0.964
1:150984051:C:G	F83L	0.964
1:150988316:C:A	A276D	0.964
1:150994638:T:C	L305P	0.964
1:150994651:A:C	R309S	0.960
1:150994651:A:T	R309S	0.960
1:150995304:C:G	C340W	0.955
1:150994683:T:A	L320H	0.954
1:150983360:G:A	G33D	0.953
1:150987948:T:C	L230P	0.953
1:150986396:T:C	L178P	0.951
1:150994636:C:A	D304E	0.951
1:150994636:C:G	D304E	0.951
1:150994695:T:C	L324P	0.951
1:150984632:G:C	R143P	0.950

dbSNP variants (sampled 300 via entrez): RS1000238576 (1:150985289 T>G), RS1000668124 (1:150980494 C>A), RS1000826372 (1:150976656 ACT>A), RS1000970610 (1:150993262 T>A), RS1001105979 (1:150990596 C>A,T), RS1001116402 (1:150979510 C>T), RS1001321237 (1:150985867 T>C), RS1001457463 (1:150993885 C>T), RS1001492952 (1:150992588 T>A), RS1001754235 (1:150985671 G>A), RS1001814359 (1:150982320 T>G), RS1001868487 (1:150981960 G>A), RS1002125292 (1:150980964 G>A), RS1002198027 (1:150995089 C>T), RS1002350760 (1:150987357 C>T)

Disease associations

OMIM: gene MIM:603319 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST000649_7	Chronic kidney disease	1.000000e-12
GCST001245_1	Melanoma	2.000000e-06
GCST001266_1	Melanoma	9.000000e-11
GCST001966_1	Rhegmatogenous retinal detachment	1.000000e-07
GCST002222_16	LDL cholesterol	5.000000e-09
GCST004233_60	LDL cholesterol levels	4.000000e-08
GCST004292_5	Glomerular filtration rate (creatinine)	1.000000e-14
GCST005951_38	Body mass index	4.000000e-09
GCST007344_45	Estimated glomerular filtration rate	2.000000e-10
GCST007565_135	Morning person	2.000000e-14
GCST007821_1	Facial attractiveness (female raters)	6.000000e-07
GCST008524_4	Bitter non-alcoholic beverage consumption	2.000000e-10
GCST010152_12	Neuroblastoma or malignant cutaneous melanoma	2.000000e-08
GCST90002397_772	Mean spheric corpuscular volume	9.000000e-10
GCST90020028_620	Hip circumference adjusted for BMI	1.000000e-16

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004340	body mass index
EFO:0008328	chronotype measurement
EFO:0009892	facial attractiveness measurement
EFO:0010093	bitter non-alcoholic beverage consumption measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6196065 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, increases methylation	7
Benzo(a)pyrene	affects methylation, decreases expression	3
Cyclosporine	decreases expression	3
entinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
afuresertib	increases expression	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
sodium arsenate	decreases expression, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
trichostatin A	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	decreases expression	1
periodate-oxidized adenosine	affects expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
mercuric bromide	affects cotreatment, increases expression	1
rofecoxib	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ormosil	affects binding, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Panobinostat	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL6106834	Binding	Induction of ANXA9 degradation in human MDA-MB-231 cells at 0.5 to 6 uM incubated for 24 hrs by Western blot analysis relative to control	Discovery of a Novel 1,4-Benzodiazepine Derivative as a Highly Selective ANXA3 Degrader for the Treatment of Triple-Negative Breast Cancer. — J Med Chem

Clinical trials (associated diseases)

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