COL22A1

Summary

COL22A1 (collagen type XXII alpha 1 chain, HGNC:22989) is a protein-coding gene on chromosome 8q24.23-q24.3, encoding Collagen alpha-1(XXII) chain (Q8NFW1). Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.

This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction.

Source: NCBI Gene 169044 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 378 total
• MANE Select transcript: NM_152888

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22989
Approved symbol	COL22A1
Name	collagen type XXII alpha 1 chain
Location	8q24.23-q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169436
Ensembl biotype	protein_coding
OMIM	610026
Entrez	169044

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000303045, ENST00000341807, ENST00000484387, ENST00000487854, ENST00000517515, ENST00000522546, ENST00000903590, ENST00000903591

RefSeq mRNA: 1 — MANE Select: NM_152888 NM_152888

CCDS: CCDS6376

Canonical transcript exons

ENST00000303045 — 65 exons

Exon	Start	End
ENSE00001213954	138679617	138679676
ENSE00001214034	138725387	138725440
ENSE00001290445	138811799	138811921
ENSE00001293277	138877750	138878316
ENSE00001297201	138833039	138833150
ENSE00001300468	138779509	138779562
ENSE00001308017	138807768	138807812
ENSE00001308781	138755157	138755210
ENSE00001311551	138796819	138796857
ENSE00001312188	138755785	138755829
ENSE00001313353	138883082	138883244
ENSE00001316823	138844084	138844158
ENSE00001318870	138812939	138813019
ENSE00001320362	138778353	138778406
ENSE00001325876	138755482	138755511
ENSE00001327665	138821136	138821411
ENSE00001328404	138802872	138802934
ENSE00001329207	138762413	138762466
ENSE00001330786	138737524	138737577
ENSE00001337610	138780927	138780980
ENSE00001361566	138913619	138914041
ENSE00001400292	138760243	138760287
ENSE00001409025	138724615	138724668
ENSE00001423267	138722036	138722089
ENSE00001425778	138751458	138751511
ENSE00001432009	138775966	138776010
ENSE00003458828	138588235	138589440
ENSE00003465750	138626190	138626243
ENSE00003472401	138635010	138635063
ENSE00003482420	138607936	138607989
ENSE00003495780	138703306	138703347
ENSE00003497572	138606381	138606452
ENSE00003498700	138596904	138596970
ENSE00003514880	138685208	138685312
ENSE00003522374	138594017	138594199
ENSE00003522919	138591424	138591501
ENSE00003544573	138623732	138623785
ENSE00003555028	138646629	138646682
ENSE00003570252	138663705	138663740
ENSE00003571910	138636742	138636795
ENSE00003574070	138604734	138604769
ENSE00003578734	138655897	138655944
ENSE00003581474	138720739	138720792
ENSE00003586654	138690821	138690874
ENSE00003592592	138616914	138616958
ENSE00003602830	138660436	138660480
ENSE00003604203	138630695	138630748
ENSE00003607530	138694508	138694561
ENSE00003613866	138613867	138613920
ENSE00003616101	138716227	138716289
ENSE00003628279	138826658	138826781
ENSE00003628956	138684425	138684469
ENSE00003634633	138616001	138616054
ENSE00003641611	138715682	138715735
ENSE00003647675	138693646	138693699
ENSE00003649849	138700112	138700144
ENSE00003664260	138676558	138676635
ENSE00003664511	138716825	138716869
ENSE00003671430	138602115	138602159
ENSE00003674109	138598719	138598898
ENSE00003676265	138688917	138688970
ENSE00003679687	138662030	138662083
ENSE00003682546	138649665	138649778
ENSE00003687055	138694826	138694879
ENSE00003694177	138619455	138619508

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 94.48.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1534 / max 197.9798, expressed in 523 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95296	0.9721	346
95295	0.6575	298
95297	0.4014	163
95298	0.0871	35
95290	0.0180	2
95289	0.0173	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	94.48	gold quality
adenohypophysis	UBERON:0002196	92.61	gold quality
tibia	UBERON:0000979	86.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.12	gold quality
pancreatic ductal cell	CL:0002079	83.32	silver quality
corpus epididymis	UBERON:0004359	82.25	gold quality
ventricular zone	UBERON:0003053	79.63	gold quality
cauda epididymis	UBERON:0004360	78.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.48	gold quality
ileal mucosa	UBERON:0000331	75.40	gold quality
seminal vesicle	UBERON:0000998	73.98	gold quality
right testis	UBERON:0004534	71.08	gold quality
left testis	UBERON:0004533	70.94	gold quality
ganglionic eminence	UBERON:0004023	70.69	gold quality
embryo	UBERON:0000922	70.68	gold quality
smooth muscle tissue	UBERON:0001135	70.07	gold quality
testis	UBERON:0000473	69.68	gold quality
epithelial cell of pancreas	CL:0000083	67.26	gold quality
right hemisphere of cerebellum	UBERON:0014890	67.16	gold quality
prostate gland	UBERON:0002367	67.13	gold quality
synovial joint	UBERON:0002217	65.86	silver quality
cerebellar cortex	UBERON:0002129	65.10	gold quality
cerebellar hemisphere	UBERON:0002245	64.97	gold quality
cerebellum	UBERON:0002037	64.19	gold quality
sperm	CL:0000019	63.86	gold quality
kidney epithelium	UBERON:0004819	63.51	gold quality
deltoid	UBERON:0001476	63.49	gold quality
islet of Langerhans	UBERON:0000006	62.66	gold quality
cartilage tissue	UBERON:0002418	61.91	silver quality
muscle layer of sigmoid colon	UBERON:0035805	61.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting COL22A1, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-3064-5P	99.26	66.13	1497

Literature-anchored findings (GeneRIF, showing 7)

• collagen XXII is the first specific extracellular matrix protein present only at tissue junctions (PMID:15016833)
• association between serum creatinine level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12 (PMID:20222955)
• Collage XXII interacts with collagen-binding integrins via the protein motifs GLQGER and GFKGER. (PMID:24428702)
• COL22A1 is required to maintain vascular integrity. These data further suggest that mutations in COL22A1 could be one of the risk factors for intracranial aneurysms in humans. (PMID:30541770)
• COL22A1 mediates fibroblast to myofibroblast transition in systemic sclerosis. Silencing of COL22A1 significantly reduced TGFbeta-induced ACTA2 expression. (PMID:30678304)
• eQTL variants in COL22A1 are associated with muscle injury in athletes. (PMID:33166209)
• Are COL22A1 Gene Polymorphisms rs11784270 and rs6577958 Associated with Susceptibility to a Non-Contact Anterior Cruciate Ligament Injury in Polish Athletes? (PMID:36612834)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
caenorhabditis_elegans		WBGENE00000662

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-1(XXII) chain — Q8NFW1 (reviewed: Q8NFW1)

All UniProt accessions (2): Q8NFW1, H0YAX7

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Cytoplasm.

Tissue specificity. Restrictive expression is observed at tissue junctions such as the myotendinous junction in skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair follicle and the dermis in the skin. It is deposited in the basement membrane zone of the myotendinous junction and the hair follicle and associated with the extrafibrillar matrix in cartilage.

Similarity. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8NFW1-1	1	yes
Q8NFW1-2	2
Q8NFW1-3	3

RefSeq proteins (1): NP_690848* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR008160	Collagen	Repeat
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR048287	TSPN-like_N	Domain
IPR050149	Collagen_superfamily	Family

Pfam: PF00092, PF01391

UniProt features (54 total): compositionally biased region 23, domain 18, region of interest 4, sequence variant 3, splice variant 2, signal peptide 1, chain 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFW1-F1	54.25	0.15

Functional residue map

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

Glycosylation sites (1): 375

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-8948216	Collagen chain trimerization

MSigDB gene sets: 82 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOCC_COLLAGEN_TRIMER, GCANCTGNY_MYOD_Q6, CAGCTG_AP4_Q5, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, RICKMAN_HEAD_AND_NECK_CANCER_A, DODD_NASOPHARYNGEAL_CARCINOMA_UP, SENESE_HDAC1_TARGETS_UP, E12_Q6, GOCC_BASEMENT_MEMBRANE, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, WGTTNNNNNAAA_UNKNOWN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, LEE_BMP2_TARGETS_DN

GO Biological Process (0):

GO Molecular Function (1): extracellular matrix structural constituent conferring tensile strength (GO:0030020)

GO Cellular Component (5): extracellular region (GO:0005576), collagen trimer (GO:0005581), basement membrane (GO:0005604), endoplasmic reticulum lumen (GO:0005788), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Collagen formation	1
Collagen biosynthesis and modifying enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
extracellular matrix structural constituent	1
protein-containing complex	1
extracellular matrix	1
endoplasmic reticulum	1
intracellular organelle lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

4017 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL22A1	CNIH1	O95406	556
COL22A1	CNIH3	Q8TBE1	556
COL22A1	TRAPPC9	Q96Q05	497
COL22A1	PRELID2	Q8N945	466
COL22A1	BGN	P13247	457
COL22A1	PCOLCE	Q15113	444
COL22A1	SEC16B	Q96JE7	438
COL22A1	LUM	P51884	423
COL22A1	AMBN	Q9NP70	412
COL22A1	PLAC8L1	A1L4L8	398
COL22A1	G3BP2	Q9UN86	379
COL22A1	CRACD	Q6ZU35	377
COL22A1	COL12A1	Q99715	376
COL22A1	PCOLCE2	Q9UKZ9	368
COL22A1	ARB2A	Q8WUF8	366

IntAct

9 interactions, top by confidence:

A	B	Type	Score
BCHE	ENTPD5	psi-mi:“MI:0914”(association)	0.640
MMP2	COL4A1	psi-mi:“MI:0914”(association)	0.640
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
PLOD3	PLOD2	psi-mi:“MI:0914”(association)	0.530
APP	MGST3	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
P4HA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
TMEM25	ATE1	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): COL22A1 (Affinity Capture-MS), COL22A1 (Affinity Capture-MS), COL22A1 (Affinity Capture-RNA), COL22A1 (Affinity Capture-MS), COL22A1 (Affinity Capture-MS), COL22A1 (Proximity Label-MS), COL22A1 (Affinity Capture-MS), COL22A1 (Affinity Capture-MS), PLD2 (Cross-Linking-MS (XL-MS)), COL22A1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WGB1, A8WR59, B2RNN3, B7Z0K8, C7DZK3, O35167, O35348, O76368, O88207, P0C862, P12107, P13942, P20908, P20909, P23805, P25067, P25318, P25940, P42916, P83371, P98085, Q03637, Q07092, Q07563, Q0II24, Q0VF58, Q17RW2, Q30D77, Q32S24, Q3MI99, Q4ZJM7, Q4ZJN1, Q60467, Q61245, Q64739, Q6UXH8

Diamond homologs: A0A1D5NSM8, A0JNA2, A2AVA0, A2AX52, D3YXF5, O02839, O19063, O35764, O43405, O70340, O76536, O89029, O95502, O96530, P02741, P02743, P06205, P06206, P06207, P06681, P07202, P07629, P08607, P09871, P0C6B8, P10643, P12246, P13944, P14151, P14847, P15697, P18337, P23680, P32018, P47970, P47971, P47972, P48199, P49254, P49262

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	300
Likely benign	20
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

10463 predictions. Top by Δscore:

Variant	Effect	Δscore
8:138589447:C:T	acceptor_gain	1.0000
8:138589454:C:CT	acceptor_gain	1.0000
8:138590235:CA:C	acceptor_gain	1.0000
8:138590236:A:C	acceptor_gain	1.0000
8:138591419:CATA:C	donor_loss	1.0000
8:138591420:ATACC:A	donor_loss	1.0000
8:138591422:ACCTG:A	donor_loss	1.0000
8:138591423:C:CA	donor_loss	1.0000
8:138594196:CTGG:C	acceptor_gain	1.0000
8:138594197:TGG:T	acceptor_gain	1.0000
8:138594200:C:CC	acceptor_gain	1.0000
8:138596902:A:AC	donor_gain	1.0000
8:138596903:C:CC	donor_gain	1.0000
8:138596966:TCCCC:T	acceptor_gain	1.0000
8:138596967:CCCC:C	acceptor_gain	1.0000
8:138596967:CCCCC:C	acceptor_gain	1.0000
8:138596968:CCC:C	acceptor_gain	1.0000
8:138596968:CCCC:C	acceptor_gain	1.0000
8:138596969:CC:C	acceptor_gain	1.0000
8:138596969:CCC:C	acceptor_gain	1.0000
8:138596969:CCCTA:C	acceptor_loss	1.0000
8:138596970:CC:C	acceptor_gain	1.0000
8:138596970:CCT:C	acceptor_loss	1.0000
8:138596971:C:A	acceptor_loss	1.0000
8:138596971:C:CC	acceptor_gain	1.0000
8:138596972:T:G	acceptor_loss	1.0000
8:138598713:CCTTA:C	donor_loss	1.0000
8:138598714:CTTA:C	donor_loss	1.0000
8:138598715:TTAC:T	donor_loss	1.0000
8:138598716:TA:T	donor_loss	1.0000

AlphaMissense

10212 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:138878228:C:A	W60C	0.999
8:138878228:C:G	W60C	0.999
8:138878286:A:G	F41S	0.999
8:138877755:C:T	C218Y	0.998
8:138877854:A:G	L185P	0.998
8:138877946:G:C	S154R	0.998
8:138877946:G:T	S154R	0.998
8:138877948:T:G	S154R	0.998
8:138877968:A:T	I147N	0.998
8:138878230:A:G	W60R	0.998
8:138878230:A:T	W60R	0.998
8:138878271:G:A	S46F	0.998
8:138878292:A:G	L39P	0.998
8:138877755:C:G	C218S	0.997
8:138877756:A:T	C218S	0.997
8:138877965:A:G	L148P	0.997
8:138877971:G:T	A146D	0.997
8:138878277:T:A	D44V	0.997
8:138877842:G:T	A189D	0.996
8:138877889:A:C	F173L	0.996
8:138877889:A:T	F173L	0.996
8:138877890:A:C	F173C	0.996
8:138877890:A:G	F173S	0.996
8:138877891:A:G	F173L	0.996
8:138877962:A:G	L149P	0.996
8:138877968:A:G	I147T	0.996
8:138877972:C:G	A146P	0.996
8:138878046:A:G	L121P	0.996
8:138878046:A:T	L121H	0.996
8:138878217:A:G	L64P	0.996

dbSNP variants (sampled 300 via entrez): RS1000007487 (8:138647641 T>C), RS1000008513 (8:138610015 T>C), RS1000029471 (8:138728484 T>C,G), RS1000034135 (8:138621003 A>T), RS1000038788 (8:138590319 T>C), RS1000050369 (8:138880979 G>A), RS1000050756 (8:138722156 G>T), RS1000069247 (8:138800984 C>A,T), RS1000094804 (8:138601056 T>C), RS1000101760 (8:138653188 G>A), RS1000124200 (8:138664201 G>A), RS1000151241 (8:138727405 G>A,C,T), RS1000151623 (8:138765250 G>A), RS1000154757 (8:138838693 C>T), RS1000196493 (8:138598145 A>G)

Disease associations

OMIM: gene MIM:610026 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001911_2	Asthma (bronchodilator response)	9.000000e-06
GCST002829_27	Urate levels in overweight individuals	3.000000e-06
GCST002829_6	Urate levels in overweight individuals	3.000000e-07
GCST003070_3	Cerebrospinal T-tau levels	4.000000e-07
GCST003079_4	Cerebrospinal fluid t-tau:AB1-42 ratio	4.000000e-06
GCST003875_4	Gut microbiota (bacterial taxa)	4.000000e-09
GCST005025_18	Anti-saccade response	9.000000e-06
GCST006248_1	Response to lurasidone in schizophrenia	5.000000e-08
GCST006248_6	Response to lurasidone in schizophrenia	2.000000e-06
GCST008154_13	Trunk fat mass	9.000000e-07
GCST008361_1	Response to cognitive-behavioural therapy in major depressive disorder	1.000000e-06
GCST008502_8	Low susceptibility to hepatitis C infection	4.000000e-06
GCST009174_1	Response to (pegylated) interferon in chronic hepatitis B	6.000000e-07
GCST009391_1432	Metabolite levels	7.000000e-06
GCST009391_84	Metabolite levels	5.000000e-06
GCST009958_2	Retinal detachment	7.000000e-10
GCST009959_1	Retinal detachment or retinal break	3.000000e-10
GCST009960_2	Retinal detachment or retinal break	7.000000e-11
GCST010377_1	Retinal detachment	5.000000e-10
GCST011743_79	HDL cholesterol levels in HIV infection	4.000000e-06

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004760	t-tau measurement
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0007874	gut microbiome measurement
EFO:0007883	taxonomic microbiome measurement
EFO:0006874	antisaccade response measurement
EFO:0007820	cognitive behavioural therapy
EFO:0010101	decreased susceptibility to hepatitis C infection
EFO:0007859	response to interferon
EFO:0010408	triacylglycerol 50:1 measurement
EFO:0010698	retinal break
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs6988229	Efficacy	3	salbutamol	Asthma

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs6988229	COL22A1	3	0.00	1	salbutamol

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
bisphenol F	decreases methylation	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
testosterone undecanoate	affects cotreatment, increases expression	1
tobacco tar	decreases expression, decreases reaction	1
benzo(e)pyrene	increases methylation	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
Decitabine	decreases expression, decreases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	decreases expression	1
Arsenic	affects methylation	1
Arsenicals	increases expression	1
Cadmium	decreases expression	1
Calcitriol	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Thimerosal	decreases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Levonorgestrel	affects cotreatment, increases expression	1
Antirheumatic Agents	decreases expression	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

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