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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3713
Gene name	Involucrin
Gene symbol	IVL
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1q21.3
Summary	Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and c

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017980	hsa-miR-335-5p	Microarray	18185580

Show/Hide all (9)

Transcription factor	Regulation	Reference
FOSL1	Unknown	10816578;15790882
FOSL2	Unknown	10816578
HOXA7	Activation	11435435
JUNB	Unknown	15790882
JUND	Unknown	10816578
KLF4	Unknown	23599428
SP1	Unknown	15191537;9512462
STAT1	Repression	10585866
YY1	Unknown	8550612

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	10908733
GO:0001533	Component	Cornified envelope	TAS
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005737	Component	Cytoplasm	IDA	16639001
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0010224	Process	Response to UV-B	IDA	16639001
GO:0016604	Component	Nuclear body	IDA
GO:0018149	Process	Peptide cross-linking	IDA	10908733
GO:0018153	Process	Isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine	TAS	1601889
GO:0030216	Process	Keratinocyte differentiation	IDA	10908733
GO:0031424	Process	Keratinization	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
147360	6187	ENSG00000163207

P07476

Protein name

Involucrin

Protein function

Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10583	Involucrin_N	1 → 69	Involucrin of squamous epithelia N-terminus	Domain
PF00904	Involucrin	104 → 112	Involucrin repeat	Repeat
PF00904	Involucrin	156 → 165	Involucrin repeat	Repeat
PF00904	Involucrin	166 → 175	Involucrin repeat	Repeat
PF00904	Involucrin	176 → 185	Involucrin repeat	Repeat
PF00904	Involucrin	186 → 195	Involucrin repeat	Repeat
PF00904	Involucrin	196 → 205	Involucrin repeat	Repeat
PF00904	Involucrin	206 → 215	Involucrin repeat	Repeat
PF00904	Involucrin	216 → 225	Involucrin repeat	Repeat
PF00904	Involucrin	226 → 235	Involucrin repeat	Repeat
PF00904	Involucrin	236 → 245	Involucrin repeat	Repeat
PF00904	Involucrin	247 → 255	Involucrin repeat	Repeat
PF00904	Involucrin	257 → 265	Involucrin repeat	Repeat
PF00904	Involucrin	266 → 275	Involucrin repeat	Repeat
PF00904	Involucrin	276 → 285	Involucrin repeat	Repeat
PF00904	Involucrin	286 → 295	Involucrin repeat	Repeat
PF00904	Involucrin	296 → 305	Involucrin repeat	Repeat
PF00904	Involucrin	306 → 315	Involucrin repeat	Repeat
PF00904	Involucrin	316 → 325	Involucrin repeat	Repeat
PF00904	Involucrin	326 → 335	Involucrin repeat	Repeat
PF00904	Involucrin	336 → 345	Involucrin repeat	Repeat
PF00904	Involucrin	346 → 355	Involucrin repeat	Repeat
PF00904	Involucrin	356 → 365	Involucrin repeat	Repeat
PF00904	Involucrin	366 → 375	Involucrin repeat	Repeat
PF00904	Involucrin	376 → 385	Involucrin repeat	Repeat
PF00904	Involucrin	386 → 395	Involucrin repeat	Repeat
PF00904	Involucrin	398 → 405	Involucrin repeat	Repeat
PF00904	Involucrin	408 → 415	Involucrin repeat	Repeat
PF00904	Involucrin	413 → 422	Involucrin repeat	Repeat
PF00904	Involucrin	423 → 432	Involucrin repeat	Repeat
PF00904	Involucrin	433 → 442	Involucrin repeat	Repeat
PF00904	Involucrin	443 → 452	Involucrin repeat	Repeat
PF00904	Involucrin	453 → 461	Involucrin repeat	Repeat
PF00904	Involucrin	463 → 472	Involucrin repeat	Repeat
PF00904	Involucrin	473 → 482	Involucrin repeat	Repeat
PF00904	Involucrin	483 → 492	Involucrin repeat	Repeat
PF00904	Involucrin	493 → 502	Involucrin repeat	Repeat
PF00904	Involucrin	503 → 512	Involucrin repeat	Repeat
PF00904	Involucrin	513 → 522	Involucrin repeat	Repeat
PF00904	Involucrin	523 → 531	Involucrin repeat	Repeat
PF00904	Involucrin	533 → 542	Involucrin repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Keratinocytes of epidermis and other stratified squamous epithelia.

Sequence

MSQQHTLPVTLSPALSQELLKTVPPPVNTHQEQMKQPTPLPPPCQKVPVELPVEVPSKQE
EKHMTAVKGLPEQECEQQQKEPQEQELQQQHWEQHEEYQKAENPEQQLKQEKTQRDQQLN
KQLEEEKKLLDQQLDQELVKRDEQLGMKKEQLLELPEQQEGHLKHLEQQEGQLKHPEQQE
GQLELPEQQEGQLELPEQQEGQLELPEQQEGQLELPEQQEGQLELPEQQEGQLELPQQQE
GQLELSEQQEGQLELSEQQEGQLKHLEHQEGQLEVPEEQMGQLKYLEQQEGQLKHLDQQE
KQPELPEQQMGQLKHLEQQEGQPKHLEQQEGQLEQLEEQEGQLKHLEQQEGQLEHLEHQE
GQLGLPEQQVLQLKQLEKQQGQPKHLEEEEGQLKHLVQQEGQLKHLVQQEGQLEQQERQV
EHLEQQVGQLKHLEEQEGQLKHLEQQQGQLEVPEQQVGQPKNLEQEEKQLELPEQQEGQV
KHLEKQEAQLELPEQQVGQPKHLEQQEKHLEHPEQQDGQLKHLEQQEGQLKDLEQQKGQL
EQPVFAPAPGQVQDIQPALPTKGEVLLPVEHQQQKQEVQWPPKHK

Sequence length

585

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

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 Unknown Diseases (7)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (57)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Actinic keratosis	Actinic keratosis	BEFREE	8600780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	9138475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37445934, 9166948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10023336, 1381602, 14760391, 23999979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	17136347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	16639284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8850247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31158810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	1847319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	35462437	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37540585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	18166499, 26918372, 28584210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	18166499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	8600780, 8740259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29145717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	18166499, 26918372, 28584210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	19515043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	1688702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10632365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10632365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24796531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	8740259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	17392835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28584210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	14760391	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	24329107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	12665627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory linear verrucous epidermal nevus	Inflammatory Linear Verrucous Epidermal Nevus	BEFREE	29166506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31470004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19089296	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	8962095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10632365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	18572023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1385457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32869947, 32934956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32869947, 32934956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	28273205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	9166948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11044112, 24260446, 25189482, 25651379, 28764725, 30181613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	31795989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	11518726, 18787534, 25267471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	24068133, 31996098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	10980462, 29166506, 8763426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	28584210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28584210, 30691219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	18572023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	BEFREE	29853747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	8962095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	18572023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19435799, 2070502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22461910, 28273205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	22998543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15625067, 22461910		★★★★★ ★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	31034437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	BEFREE	15149499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34659224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24796531	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

IVL (involucrin)