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  2. KERA - keratocan Gene

KERA - keratocan Gene

中文名称:角质素

种属: Homo sapiens

同用名: KTN; CNA2; SLRR2B

基因 ID: 11081 | 基因类型: protein coding

关于 KERA

Cytogenetic location: 12q21.33 Genomic coordinates (GRCh38): 12:91,050,491-91,058,024 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues, 10 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是一种参与角膜透明度的硫酸角质素蛋白多糖。该基因的缺陷是常染色体隐性角膜平面 2 (CNA2) 的原因。[RefSeq 提供,2010 年 5 月]

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]

KERA 基因产物(1)

mRNA Protein Name
NM_007035.4 NP_008966.1 keratocan precursor

KERA 蛋白结构

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (42 - 70)

LRR_8

LRR_8: Leucine rich repeat (75 - 133)

LRR_8

LRR_8: Leucine rich repeat (143 - 204)

  • 0
  • 100
  • 200
  • 300
  • 352 a.a.
蛋白主名 其他名称

keratocan

keratan sulfate proteoglycan keratocan

关联疾病

疾病名称 别名
Cornea Plana 2, Autosomal Recessive

CNA2

Cornea Plana Congenita, Recessive

Congenital Cornea Plana
Cornea Plana

Flat Cornea

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Cloacogenic Carcinoma

Cloacogenic Anal Carcinoma

Macular Dystrophy, Corneal

Macular Corneal Dystrophy

MCD

Corneal Dystrophy, Macular Type

Groenouw Type Ii Corneal Dystrophy

Fehr Corneal Dystrophy

Macular Dystrophy, Corneal Type 1

Mcdc1

Macular Corneal Dystrophy Type Ii

Macular Corneal Dystrophy, Type Ii

Macular Corneal Dystrophy, Type I

Mcdc1, Formerly

Macular Dystrophy, Corneal, 1

Macular Corneal Dystrophy Type 1

Corneal Dystrophy Groenouw Type Ii

Corneal Dystrophy Macular Type

Macular Corneal Dystrophy Type I

Dystrophy, Macular, Corneal

Stromal Dystrophy
Corneal Ectasia
Corneal Dystrophy, Posterior Amorphous

Posterior Amorphous Corneal Dystrophy

PACD

Chromosome 12q21.33 Deletion Syndrome

Posterior Amorphous Stromal Dystrophy

Corneal Dystrophy
Accommodative Esotropia

Esotropia With Accommodative Compensation

Exposure Keratitis

Exposure Keratoconjunctivitis

Lagophthalmic Keratitis

Corneal Dystrophy, Congenital Stromal

Congenital Stromal Corneal Dystrophy

CSCD

Congenital Hereditary Stromal Dystrophy

Congenital Hereditary Stromal Dystrophy Of The Cornea

Congenital Stromal Dystrophy Of The Cornea

Dacs

Decorin-Associated Congenital Stromal Corneal Dystrophy

Dystrophia Corneae Parenchymatosa Congenita

Witschel Dystrophy

Dystrophy, Corneal, Stromal, Congenital

Irregular Astigmatism
Corneal Ulcer

Cornea Ulcer

Ulcerative Keratitis

Corneal Ulcer Nos

Corneal Disease

Corneal Diseases

Corneal Disorders

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Sclerocornea

Isolated Congenital Sclerocornea

Bullous Keratopathy

Bk - [Bullous Keratopathy]

Corneal Degeneration

Degenerative Corneal Opacity

Refractive Error

Refractive Errors

Eye Accommodation Disease
Keratopathy
Steroid-Induced Glaucoma

Corticosteroid-Induced Glaucoma

Nanophthalmos

Nanophthalmia

Keratitis, Hereditary

Keratitis

Autosomal Dominant Keratitis

Hereditary Keratitis

Dominantly Inherited Keratitis

Keratitis Hereditary

KERH

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris KERA VGNC VGNC:42334
Mus musculus KERA MGD MGI:1202398
Rattus norvegicus KERA RGD RGD:1305816
Macaca mulatta KERA VGNC VGNC:108355
Bos taurus KERA VGNC VGNC:30539
Macaca fascicularis KERA NCBI NCBI:101866275
Others KERA NCBI