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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	126638
Gene name	Repetin
Gene symbol	RPTN
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1q21.3

Show/Hide all (65)

miRTarBase ID	miRNA	Experiments	Reference
MIRT723665	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT723664	hsa-miR-4301	HITS-CLIP	19536157
MIRT723663	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT723662	hsa-miR-326	HITS-CLIP	19536157
MIRT723661	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT723660	hsa-miR-6861-5p	HITS-CLIP	19536157
MIRT723659	hsa-miR-6776-5p	HITS-CLIP	19536157
MIRT723658	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT723657	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT723656	hsa-miR-6762-5p	HITS-CLIP	19536157
MIRT723655	hsa-miR-6845-5p	HITS-CLIP	19536157
MIRT723654	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT723653	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT723652	hsa-miR-5087	HITS-CLIP	19536157
MIRT723651	hsa-miR-6740-5p	HITS-CLIP	19536157
MIRT723650	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT723649	hsa-miR-5691	HITS-CLIP	19536157
MIRT723648	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT723647	hsa-miR-1227-5p	HITS-CLIP	19536157
MIRT723646	hsa-miR-3940-5p	HITS-CLIP	19536157
MIRT723645	hsa-miR-4507	HITS-CLIP	19536157
MIRT723644	hsa-miR-450a-2-3p	HITS-CLIP	19536157
MIRT723643	hsa-miR-4260	HITS-CLIP	19536157
MIRT723642	hsa-miR-5572	HITS-CLIP	19536157
MIRT723665	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT723664	hsa-miR-4301	HITS-CLIP	19536157
MIRT723663	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT723662	hsa-miR-326	HITS-CLIP	19536157
MIRT723661	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT723660	hsa-miR-6861-5p	HITS-CLIP	19536157
MIRT723659	hsa-miR-6776-5p	HITS-CLIP	19536157
MIRT723658	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT723657	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT723656	hsa-miR-6762-5p	HITS-CLIP	19536157
MIRT723655	hsa-miR-6845-5p	HITS-CLIP	19536157
MIRT723654	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT723653	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT723652	hsa-miR-5087	HITS-CLIP	19536157
MIRT723651	hsa-miR-6740-5p	HITS-CLIP	19536157
MIRT723650	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT723649	hsa-miR-5691	HITS-CLIP	19536157
MIRT723648	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT723647	hsa-miR-1227-5p	HITS-CLIP	19536157
MIRT723646	hsa-miR-3940-5p	HITS-CLIP	19536157
MIRT723645	hsa-miR-4507	HITS-CLIP	19536157
MIRT723644	hsa-miR-450a-2-3p	HITS-CLIP	19536157
MIRT723643	hsa-miR-4260	HITS-CLIP	19536157
MIRT723642	hsa-miR-5572	HITS-CLIP	19536157
MIRT1319059	hsa-miR-103b	CLIP-seq
MIRT1319060	hsa-miR-1178	CLIP-seq
MIRT1319061	hsa-miR-30a	CLIP-seq
MIRT1319062	hsa-miR-30b	CLIP-seq
MIRT1319063	hsa-miR-30c	CLIP-seq
MIRT1319064	hsa-miR-30d	CLIP-seq
MIRT1319065	hsa-miR-30e	CLIP-seq
MIRT1319066	hsa-miR-3907	CLIP-seq
MIRT1319067	hsa-miR-3919	CLIP-seq
MIRT1319068	hsa-miR-4299	CLIP-seq
MIRT1319069	hsa-miR-4456	CLIP-seq
MIRT1319070	hsa-miR-4708-5p	CLIP-seq
MIRT1319071	hsa-miR-4756-3p	CLIP-seq
MIRT1319072	hsa-miR-4777-3p	CLIP-seq
MIRT1319073	hsa-miR-548q	CLIP-seq
MIRT2094860	hsa-miR-4753-3p	CLIP-seq
MIRT2319252	hsa-miR-4279	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence
GO:0001533	Component	Cornified envelope	IBA
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005829	Component	Cytosol	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0046914	Function	Transition metal ion binding	IEA

MIM	HGNC	e!Ensembl
613259	26809	ENSG00000215853

Q6XPR3

Protein name

Repetin

Protein function

Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01023	S_100	4 → 46	S-100/ICaBP type calcium binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression is scattered in the normal epidermis but strong in the acrosyringium, the inner hair root sheath and in the filiform papilli of the tongue. {ECO:0000269|PubMed:15854042}.

Sequence

MAQLLNSILSVIDVFHKYAKGNGDCALLCKEELKQLLLAEFGDILQRPNDPETVETILNL
LDQDRDGHIDFHEYLLLVFQLVQACYHKLDNKSHGGRTSQQERGQEGAQDCKFPGNTGRQ
HRQRHEEERQNSHHSQPERQDGDSHHGQPERQDRDSHHGQSEKQDRDSHHSQPERQDRDS
HHNQSERQDKDFSFDQSERQSQDSSSGKKVSHKSTSGQAKWQGHIFALNRCEKPIQDSHY
GQSERHTQQSETLGQASHFNQTNQQKSGSYCGQSERLGQELGCGQTDRQGQSSHYGQTDR
QDQSYHYGQTDRQGQSSHYSQTDRQGQSSHYSQPDRQGQSSHYGQMDRKGQCYHYDQTNR
QGQGSHYSQPNRQGQSSHYGQPDTQDQSSHYGQTDRQDQSSHYGQTERQGQSSHYSQMDR
QGQGSHYGQTDRQGQSSHYGQPDRQGQNSHYGQTDRQGQSSHYGQTDRQGQSSHYSQPDK
QGQSSHYGKIDRQDQSYHYGQPDGQGQSSHYGQTDRQGQSFHYGQPDRQGQSSHYSQMDR
QGQSSHYGQTDRQGQSSHYGQTDRQGQSYHYGQTDRQGQSSHYIQSQTGEIQGQNKYFQG
TEGTRKASYVEQSGRSGRLSQQTPGQEGYQNQGQGFQSRDSQQNGHQVWEPEEDSQHHQH
KLLAQIQQERPLCHKGRDWQSCSSEQGHRQAQTRQSHGEGLSHWAEEEQGHQTWDRHSHE
SQEGPCGTQDRRTHKDEQNHQRRDRQTHEHEQSHQRRDRQTHEDKQNRQRRDRQTHEDEQ
NHQR

Sequence length

784

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 (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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MASTOCYTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	28219068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	32213830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28219068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28219068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	8378327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10620705, 1450414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1450414, 1600942, 8161933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	1450414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis Cutaneous	Mastocytosis	Pubtator	32752121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32599975	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RPTN (repetin)