SCEL (sciellin)

Gene

• Entrez ID: 8796
• Gene name: Sciellin
• Gene symbol: SCEL
• Synonyms (NCBI Gene): -
• Chromosome: 13
• Chromosome location: 13q22.3
• Summary: The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Tr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1329298	hsa-miR-203	CLIP-seq
MIRT1329299	hsa-miR-300	CLIP-seq
MIRT1329300	hsa-miR-3647-3p	CLIP-seq
MIRT1329301	hsa-miR-381	CLIP-seq
MIRT1329302	hsa-miR-4282	CLIP-seq
MIRT1329303	hsa-miR-4666-3p	CLIP-seq
MIRT1329304	hsa-miR-495	CLIP-seq
MIRT1329305	hsa-miR-520d-5p	CLIP-seq
MIRT1329306	hsa-miR-524-5p	CLIP-seq
MIRT2097657	hsa-miR-4727-5p	CLIP-seq
MIRT2097658	hsa-miR-4769-3p	CLIP-seq
MIRT2097659	hsa-miR-544	CLIP-seq
MIRT2458895	hsa-miR-122	CLIP-seq
MIRT2458896	hsa-miR-3064-5p	CLIP-seq
MIRT2458897	hsa-miR-3135b	CLIP-seq
MIRT2458898	hsa-miR-3652	CLIP-seq
MIRT2458899	hsa-miR-3661	CLIP-seq
MIRT2458900	hsa-miR-4430	CLIP-seq
MIRT2458901	hsa-miR-4505	CLIP-seq
MIRT2458902	hsa-miR-4535	CLIP-seq
MIRT2458903	hsa-miR-492	CLIP-seq
MIRT2458904	hsa-miR-631	CLIP-seq
MIRT2458895	hsa-miR-122	CLIP-seq
MIRT2458896	hsa-miR-3064-5p	CLIP-seq
MIRT2458897	hsa-miR-3135b	CLIP-seq
MIRT2458898	hsa-miR-3652	CLIP-seq
MIRT2458899	hsa-miR-3661	CLIP-seq
MIRT2458900	hsa-miR-4430	CLIP-seq
MIRT2458901	hsa-miR-4505	CLIP-seq
MIRT2458902	hsa-miR-4535	CLIP-seq
MIRT2458903	hsa-miR-492	CLIP-seq
MIRT2458904	hsa-miR-631	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS	9813070
GO:0005515	Function	Protein binding	IPI	14632196, 21516116, 25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9813070
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	11112355
GO:0008544	Process	Epidermis development	IBA
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	ISS	11112355
GO:0008544	Process	Epidermis development	TAS	9813070
GO:0009612	Process	Response to mechanical stimulus	IEP	19211270
GO:0009792	Process	Embryo development ending in birth or egg hatching	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	ISS	11112355
GO:0016020	Component	Membrane	IEA
GO:0030216	Process	Keratinocyte differentiation	IDA	14632196
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19211270
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	27013588

Other IDs

• MIM: 604112
• HGNC: 10573
• e!Ensembl: ENSG00000136155

Protein

• UniProt ID: O95171
• Protein name: Sciellin
• Protein function: May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope.
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in esophagus. It is also expressed in keratinocytes, amniotic tissue, foreskin stratum spinosum and stratum granulosum, hair follicle and nail.
• Sequence:

  MSNVTLRKMSPTGNEMKSTTQGTTRKQQDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGR
  VVLNRHNSHDALDRKVNERDVPKATISRYSSDDTLDRISDRNDAAKTYKANTLDNQLTNR
  SMSMFRSLEVTKLQPGGSLNANTSNTIASTSATTPVKKKRQSWFPPPPPGYNASSSTGTR
  RREPGVHPPIPPKPSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAERNIRSQDLDNIVK
  VATSLQRSDKGEELDNLIKMNKSLNRNQGLDSLFRANPKVEEREKRAKSLESLIYMSTRT
  DKDGKGIQSLGSPIKVNQRTDKNEKGRQNLESVAKVNARMNKTSRRSEDLDNATEVNPKG
  HENTTGKKDLDGLIKVDPETNKNITRGQSLDNLIKVTPEVKRSNQGSKDLNNFIKVYPGT
  EKSTEGGQSLDSLIKVTPERNRTNQGNQDLENLIKVIPSANKSSEQGLDEHINVSPKAVK
  NTDGKQDLDKLIKVNPEIFTNNQRNQDLANLIKVNPAVIRNNQSQDLDNLIKVKPSALRN
  TNRDQNLENLIEVNSHVSENKNGSSNTGAKQAGPQDTVVYTRTYVENSKSPKDGYQENIS
  GKYIQTVYSTSDRSVIERDMCTYCRKPLGVETKMILDELQICCHSTCFKCEICKQPLENL
  QAGDSIWIYRQTIHCEPCYSKIMAKWIP

• Sequence length: 688

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Moyamoya angiopathy	Likely pathogenic	rs34794176	RCV004704499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26790439	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26790439		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15274303		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15274303		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	31325086		★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	26790439	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26790439	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	26790439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15274303		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	15274303		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15274303		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30639415	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11752453		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15274303		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18254958, 37092360	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11752453	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32164602	Associate	★☆☆☆☆ Found in Text Mining only