Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	53616
Gene name	ADAM metallopeptidase domain 22
Gene symbol	ADAM22
Synonyms (NCBI Gene)	ADAM 22DEE61EIEE61MDC2
Chromosome	7
Chromosome location	7q21.12
Summary	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes

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SNP ID	Visualize variation	Clinical significance	Consequence
rs747259064	G>A,T	Pathogenic	Coding sequence variant, missense variant

158

Show/Hide all (158)

miRTarBase ID	miRNA	Experiments	Reference
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT721421	hsa-miR-4712-5p	HITS-CLIP	19536157
MIRT721420	hsa-miR-770-5p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT721421	hsa-miR-4712-5p	HITS-CLIP	19536157
MIRT721420	hsa-miR-770-5p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT766076	hsa-miR-122	CLIP-seq
MIRT766077	hsa-miR-3117-5p	CLIP-seq
MIRT766078	hsa-miR-3198	CLIP-seq
MIRT766079	hsa-miR-4309	CLIP-seq
MIRT766080	hsa-miR-432	CLIP-seq
MIRT766081	hsa-miR-4686	CLIP-seq
MIRT766082	hsa-miR-4699-3p	CLIP-seq
MIRT766083	hsa-miR-4720-3p	CLIP-seq
MIRT766084	hsa-miR-4775	CLIP-seq
MIRT766085	hsa-miR-4804-3p	CLIP-seq
MIRT766086	hsa-miR-514	CLIP-seq
MIRT766087	hsa-miR-514b-3p	CLIP-seq
MIRT766088	hsa-miR-519e	CLIP-seq
MIRT766089	hsa-miR-587	CLIP-seq
MIRT766090	hsa-miR-885-5p	CLIP-seq
MIRT766091	hsa-miR-1185	CLIP-seq
MIRT766092	hsa-miR-1193	CLIP-seq
MIRT766093	hsa-miR-1243	CLIP-seq
MIRT766094	hsa-miR-1255a	CLIP-seq
MIRT766095	hsa-miR-1255b	CLIP-seq
MIRT766096	hsa-miR-1265	CLIP-seq
MIRT766097	hsa-miR-219-5p	CLIP-seq
MIRT766098	hsa-miR-3134	CLIP-seq
MIRT766099	hsa-miR-3143	CLIP-seq
MIRT766100	hsa-miR-3180-5p	CLIP-seq
MIRT766101	hsa-miR-3182	CLIP-seq
MIRT766102	hsa-miR-324-5p	CLIP-seq
MIRT766103	hsa-miR-3605-5p	CLIP-seq
MIRT766104	hsa-miR-3663-5p	CLIP-seq
MIRT766105	hsa-miR-3679-5p	CLIP-seq
MIRT766106	hsa-miR-375	CLIP-seq
MIRT766107	hsa-miR-3910	CLIP-seq
MIRT766108	hsa-miR-4270	CLIP-seq
MIRT766109	hsa-miR-4273	CLIP-seq
MIRT766110	hsa-miR-4441	CLIP-seq
MIRT766111	hsa-miR-4445	CLIP-seq
MIRT766112	hsa-miR-448	CLIP-seq
MIRT766113	hsa-miR-4484	CLIP-seq
MIRT766114	hsa-miR-452	CLIP-seq
MIRT766115	hsa-miR-455-5p	CLIP-seq
MIRT766116	hsa-miR-4666-3p	CLIP-seq
MIRT766117	hsa-miR-4671-5p	CLIP-seq
MIRT766118	hsa-miR-4676-3p	CLIP-seq
MIRT766119	hsa-miR-4677-5p	CLIP-seq
MIRT766120	hsa-miR-4685-5p	CLIP-seq
MIRT766121	hsa-miR-4693-5p	CLIP-seq
MIRT766122	hsa-miR-4699-5p	CLIP-seq
MIRT766123	hsa-miR-4709-3p	CLIP-seq
MIRT766124	hsa-miR-4738-3p	CLIP-seq
MIRT766125	hsa-miR-4764-5p	CLIP-seq
MIRT766126	hsa-miR-4782-3p	CLIP-seq
MIRT766127	hsa-miR-4803	CLIP-seq
MIRT766128	hsa-miR-508-3p	CLIP-seq
MIRT766129	hsa-miR-522	CLIP-seq
MIRT766130	hsa-miR-544	CLIP-seq
MIRT766131	hsa-miR-548ag	CLIP-seq
MIRT766132	hsa-miR-548ai	CLIP-seq
MIRT766133	hsa-miR-548an	CLIP-seq
MIRT766134	hsa-miR-550a	CLIP-seq
MIRT766135	hsa-miR-576-3p	CLIP-seq
MIRT766136	hsa-miR-582-5p	CLIP-seq
MIRT766137	hsa-miR-656	CLIP-seq
MIRT766138	hsa-miR-758	CLIP-seq
MIRT766090	hsa-miR-885-5p	CLIP-seq
MIRT766139	hsa-miR-936	CLIP-seq
MIRT1925741	hsa-miR-142-5p	CLIP-seq
MIRT1925742	hsa-miR-194	CLIP-seq
MIRT1925743	hsa-miR-30a	CLIP-seq
MIRT1925744	hsa-miR-30b	CLIP-seq
MIRT1925745	hsa-miR-30c	CLIP-seq
MIRT1925746	hsa-miR-30d	CLIP-seq
MIRT1925747	hsa-miR-30e	CLIP-seq
MIRT1925748	hsa-miR-3117-3p	CLIP-seq
MIRT1925749	hsa-miR-3119	CLIP-seq
MIRT1925750	hsa-miR-3123	CLIP-seq
MIRT1925751	hsa-miR-3140-5p	CLIP-seq
MIRT1925752	hsa-miR-3144-3p	CLIP-seq
MIRT1925753	hsa-miR-3155	CLIP-seq
MIRT1925754	hsa-miR-3155b	CLIP-seq
MIRT1925755	hsa-miR-3163	CLIP-seq
MIRT766102	hsa-miR-324-5p	CLIP-seq
MIRT1925756	hsa-miR-340	CLIP-seq
MIRT1925757	hsa-miR-3616-5p	CLIP-seq
MIRT1925758	hsa-miR-3647-5p	CLIP-seq
MIRT1925759	hsa-miR-4328	CLIP-seq
MIRT1925760	hsa-miR-4793-5p	CLIP-seq
MIRT766127	hsa-miR-4803	CLIP-seq
MIRT1925761	hsa-miR-484	CLIP-seq
MIRT1925762	hsa-miR-548aa	CLIP-seq
MIRT1925763	hsa-miR-548k	CLIP-seq
MIRT1925764	hsa-miR-548n	CLIP-seq
MIRT1925765	hsa-miR-548t	CLIP-seq
MIRT1925766	hsa-miR-573	CLIP-seq
MIRT1925767	hsa-miR-651	CLIP-seq
MIRT1925768	hsa-miR-875-5p	CLIP-seq
MIRT2167111	hsa-miR-1246	CLIP-seq
MIRT1925743	hsa-miR-30a	CLIP-seq
MIRT1925744	hsa-miR-30b	CLIP-seq
MIRT1925745	hsa-miR-30c	CLIP-seq
MIRT1925746	hsa-miR-30d	CLIP-seq
MIRT1925747	hsa-miR-30e	CLIP-seq
MIRT1925755	hsa-miR-3163	CLIP-seq
MIRT1925757	hsa-miR-3616-5p	CLIP-seq
MIRT1925758	hsa-miR-3647-5p	CLIP-seq
MIRT1925759	hsa-miR-4328	CLIP-seq
MIRT2167112	hsa-miR-4646-3p	CLIP-seq
MIRT1925764	hsa-miR-548n	CLIP-seq
MIRT1925765	hsa-miR-548t	CLIP-seq
MIRT1925766	hsa-miR-573	CLIP-seq
MIRT2443145	hsa-miR-1261	CLIP-seq
MIRT1925755	hsa-miR-3163	CLIP-seq
MIRT2443146	hsa-miR-3646	CLIP-seq
MIRT2443147	hsa-miR-3662	CLIP-seq
MIRT2469678	hsa-miR-1	CLIP-seq
MIRT2469679	hsa-miR-1272	CLIP-seq
MIRT2469680	hsa-miR-1277	CLIP-seq
MIRT2469681	hsa-miR-206	CLIP-seq
MIRT2469682	hsa-miR-3673	CLIP-seq
MIRT2469683	hsa-miR-3682-3p	CLIP-seq
MIRT2469684	hsa-miR-3914	CLIP-seq
MIRT2469685	hsa-miR-4802-3p	CLIP-seq
MIRT2469686	hsa-miR-613	CLIP-seq
MIRT2674402	hsa-miR-203	CLIP-seq
MIRT2674403	hsa-miR-433	CLIP-seq
MIRT766127	hsa-miR-4803	CLIP-seq
MIRT2674404	hsa-miR-579	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005178	Function	Integrin binding	NAS	9693107
GO:0005515	Function	Protein binding	IPI	12589811, 16868027, 20463223, 24550280, 27066583, 30126976
GO:0005886	Component	Plasma membrane	IDA	27066583
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007162	Process	Negative regulation of cell adhesion	NAS	9693107
GO:0007417	Process	Central nervous system development	TAS	9693107
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	NAS	9693107
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0038023	Function	Signaling receptor activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0098839	Component	Postsynaptic density membrane	IBA

MIM	HGNC	e!Ensembl
603709	201	ENSG00000008277

Q9P0K1

Protein name

Disintegrin and metalloproteinase domain-containing protein 22 (ADAM 22) (Metalloproteinase-disintegrin ADAM22-3) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2)

Protein function

Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1. {ECO:00

PDB

3G5C , 5Y2Z , 5Y31 , 7CQF , 8HPY , 8HQ1 , 8HQ2 , 8Y6B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01562	Pep_M12B_propep	41 → 188	Reprolysin family propeptide	Family
PF01421	Reprolysin	239 → 438	Reprolysin (M12B) family zinc metalloprotease	Domain
PF00200	Disintegrin	453 → 526	Disintegrin	Domain
PF08516	ADAM_CR	531 → 649	ADAM cysteine-rich	Family
PF07974	EGF_2	679 → 711	EGF-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the brain and in some high-grade but not low-grade gliomas. Detected slightly or not at all in other tissues. {ECO:0000269|PubMed:16385342}.

Sequence

MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSG
GEDESRHDALDTRVRGDLGGPQLTHVDQASFQVDAFGTSFILDVVLNHDLLSSEYIERHI
EHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKY
IELMIVNDHLMFKKHRLSVVHTNTYAKSVVNMADLIYKDQLKTRIVLVAMETWATDNKFA
ISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIE
EYHDFLNSGGGACLFNKPSKLLDPPECGNGFIETGEECDCGTPAECVLEGAECCKKCTLT
QDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG
ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLC
GYLLCTNIGNIPRLGELDGEITSTLVVQQGRTLNCSGGHVKLEEDVDLGYVEDGTPCGPQ
MMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGD
GDSFYSDIPPGVSTNSASSSKKRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLG
GNKKKIRGKRFRPRSNSTETLSPAKSPSSSTGSIASSRKYPYPMPPLPDEDKKVNRQSAR
LWETSI

Sequence length

906

Interactions

View interactions

	Reactome
			LGI-ADAM interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ADAM22-related disorder	Likely pathogenic	rs760686398	RCV003902110	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 61	Pathogenic; Likely pathogenic	rs2536800069, rs1303434565, rs747259064, rs1554519462, rs1842129329, rs1262642807	RCV003224820 RCV003990875 RCV000617427 RCV000619250 RCV004799564 RCV001293020 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amnesia	Amnesia	BEFREE	27717669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Temporal lobe epilepsy	BEFREE	27717669, 30598502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35373813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22072566, 30278449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30278449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	27148736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	17681454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29670100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Familial Temporal Lobe 1	Epilepsy	BEFREE	27717669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	BEFREE	17681454, 18440780, 27760137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 4	Developmental and epileptic encephalopathy	Pubtator	35373813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61	Epileptic encephalopathy	UNIPROT_DG	27066583		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	30237576		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38019838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11050470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16385342, 17884303, 28579810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29358191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29358191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26672043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34166375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22072566, 30278449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	31681319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28574651	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	38518731	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22072566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31452819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	25298284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19729666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31473474		★★★★★ ★☆☆☆☆ Found in Text Mining only

ADAM22 (ADAM metallopeptidase domain 22)