KERA (keratocan)

Gene

• Entrez ID: 11081
• Gene name: Keratocan
• Gene symbol: KERA
• Synonyms (NCBI Gene): CNA2, KTN, SLRR2B
• Chromosome: 12
• Chromosome location: 12q21.33
• Summary: The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917858	T>C	Pathogenic	Coding sequence variant, missense variant
rs121917860	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121917862	G>T	Pathogenic	Coding sequence variant, missense variant
rs121917863	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs386833984	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833985	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386833986	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs757611751	A>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018215	hsa-miR-335-5p	Microarray	18185580
MIRT1085147	hsa-miR-127-5p	CLIP-seq
MIRT1085148	hsa-miR-2116	CLIP-seq
MIRT1085149	hsa-miR-4639-5p	CLIP-seq
MIRT1085150	hsa-miR-4677-5p	CLIP-seq
MIRT1085151	hsa-miR-4719	CLIP-seq
MIRT1085152	hsa-miR-4735-5p	CLIP-seq
MIRT2253212	hsa-miR-2276	CLIP-seq
MIRT2253213	hsa-miR-3908	CLIP-seq
MIRT2253214	hsa-miR-3942-5p	CLIP-seq
MIRT2253215	hsa-miR-4703-5p	CLIP-seq
MIRT2253216	hsa-miR-4766-3p	CLIP-seq
MIRT2253217	hsa-miR-4772-3p	CLIP-seq
MIRT2452363	hsa-miR-155	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005796	Component	Golgi lumen	TAS
GO:0007601	Process	Visual perception	IEA
GO:0031012	Component	Extracellular matrix	NAS	10802664
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0061303	Process	Cornea development in camera-type eye	IEA

Other IDs

• MIM: 603288
• HGNC: 6309
• e!Ensembl: ENSG00000139330

Protein

• UniProt ID: O60938
• Protein name: Keratocan (KTN) (Keratan sulfate proteoglycan keratocan)
• Protein function: May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	71 → 133	Leucine rich repeat	Repeat
  PF13855	LRR_8	142 → 204	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Cornea (at protein level) (PubMed:10802664, PubMed:11683372). Increased expression in the stroma of keratoconus corneas (PubMed:11683372). Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and puta
• Sequence:

  MAGTICFIMWVLFITDTVWSRSVRQVYEVHDSDDWTIHDFECPMECFCPPSFPTALYCEN
  RGLKEIPAIPSRIWYLYLQNNLIETIPEKPFENATQLRWINLNKNKITNYGIEKGALSQL
  KKLLFLFLEDNELEEVPSPLPRSLEQLQLARNKVSRIPQGTFSNLENLTLLDLQNNKLVD
  NAFQRDTFKGLKNLMQLNMAKNALRNMPPRLPANTMQLFLDNNSIEGIPENYFNVIPKVA
  FLRLNHNKLSDEGLPSRGFDVSSILDLQLSHNQLTKVPRISAHLQHLHLDHNKIKSVNVS
  VICPSPSMLPAERDSFSYGPHLRYLRLDGNEIKPPIPMALMTCFRLLQAVII

• Sequence length: 352

Pathways

Reactome:

Keratan sulfate biosynthesis
Keratan sulfate degradation
Defective CHST6 causes MCDC1
Defective ST3GAL3 causes MCT12 and EIEE15
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cornea plana 2	Pathogenic; Likely pathogenic	rs121917858, rs121917860, rs121917862, rs121917863, rs757611751, rs386833985, rs386833986	RCV000006892 RCV000006893 RCV000006894 RCV000006895 RCV000210915 RCV000049962 RCV000049963
KERA-related disorder	Pathogenic	rs758552587	RCV004758942

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Benign	rs12320366	RCV005920966
Malignant lymphoma, large B-cell, diffuse	Benign	rs12320366	RCV005920967

Associations from Text Mining
Disease Name	Relationship Type	References
Cornea Plana 1	Associate	26099342, 28677912, 31059048
Cornea Plana 2	Associate	26099342, 31059048
Corneal Dystrophy Posterior Amorphous	Associate	24759697, 29671669
Keratoconus	Stimulate	11683372
Keratoconus	Associate	23727491