KERA keratocan [Homo sapiens (human)] - Gene

Summary

Official Symbol: KERAprovided by HGNC
Official Full Name: keratocanprovided by HGNC
Primary source: HGNC:HGNC:6309
See related: Ensembl:ENSG00000139330 MIM:603288; AllianceGenome:HGNC:6309
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KTN; CNA2; SLRR2B
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (91050491..91058024, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (91028004..91035533, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (91444268..91451801, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene.
Title: Corneal ectasia in a boy with homozygous KERA mutation.
KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana
Title: Analysis of KERA in four families with cornea plana identifies two novel mutations.
The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
Title: A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.
a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form.
Title: Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Corneal endothelial disorders were found with compound mutations in KERA
Title: Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.
rare variant in KERA was identified in a large kindred with premature atherosclerosis
Title: Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region.
Title: Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
Observational study of gene-disease association. (HuGE Navigator)
Title: Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
Multiple core-protein species were detected for decorin, biglycan, lumican and keratocan in the degenerate osteoarthritic articular cartilage and menisci.
Title: Fragmentation of decorin, biglycan, lumican and keratocan is elevated in degenerate human meniscus, knee and hip articular cartilages compared with age-matched macroscopically normal and control tissues.
This is the first description of recessive cornea plana in a white British family and it is the second report on the p.N247S change in the KERA gene.
Title: Study of p.N247S KERA mutation in a British family with cornea plana.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cornea plana 2 MedGen: C1857574 OMIM: 217300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93820 (e-PCR)
- UniSTS:84062

SHGC-107417 (e-PCR)
- UniSTS:170337

D12S1441 (e-PCR)
- UniSTS:63937

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in cornea development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: keratocan

Names: keratan sulfate proteoglycan keratocan

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021223.1 RefSeqGene

Range

5001..12864

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_538

mRNA and Protein(s)

NM_007035.4 → NP_008966.1 keratocan precursor

See identical proteins and their annotated locations for NP_008966.1

Status: REVIEWED

Source sequence(s)

AC078873

Consensus CDS

CCDS9037.1

UniProtKB/Swiss-Prot

O60938

UniProtKB/TrEMBL

B2RC89

Related

ENSP00000266719.3, ENST00000266719.4

Conserved Domains (2) summary

sd00033
Location:73 → 96

LRR_RI; leucine-rich repeat [structural motif]

cl26018
Location:48 → 311

NEL; C-terminal novel E3 ligase, LRR-interacting