KERA (keratocan)

Gene

• Entrez ID: 11081
• Gene name: Keratocan
• Gene symbol: KERA
• Synonyms (NCBI Gene): CNA2, KTN, SLRR2B
• Disease Acronyms (UniProt): CNA2
• 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:0003674	Function	Molecular_function	ND
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005796	Component	Golgi lumen	TAS
GO:0007601	Process	Visual perception	IEA
GO:0018146	Process	Keratan sulfate biosynthetic process	TAS
GO:0031012	Component	Extracellular matrix	NAS	10802664
GO:0042340	Process	Keratan sulfate catabolic process	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0050896	Process	Response to stimulus	IEA
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
Disease term	Disease name	dbSNP ID	References
Cornea plana	Cornea plana, CORNEA PLANA 2	rs121917858, rs121917860, rs121917862, rs121917863, rs386833985, rs386833986, rs757611751	10802664, 11726611, 23834557

Unknown
Disease term	Disease name	Evidence	References	Source
Cornea Plana	congenital cornea plana, cornea plana			GenCC
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

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