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  2. MERTK - MER proto-oncogene, tyrosine kinase Gene

MERTK - MER proto-oncogene, tyrosine kinase Gene

中文名称:MER 原癌基因,酪氨酸激酶

种属: Homo sapiens

同用名: MER; RP38; c-Eyk; c-mer; Tyro12

基因 ID: 10461 | 基因类型: protein coding

关于 MERTK

Cytogenetic location: 2q13 Genomic coordinates (GRCh38): 2:111,898,607-112,029,561 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues, 53 paralogues and is associated with 3 phenotypes. Broad expression in adrenal (RPKM 25.0), spleen (RPKM 11.3) and 21 other tissues.

功能概要

该基因是 MER/AXL/TYRO3 受体激酶家族的一员,编码一种跨膜蛋白,具有两个纤连蛋白 III 型结构域、两个 Ig 样 C2 型 (免疫球蛋白样) 结构域和一个酪氨酸激酶结构域。该基因的突变与视网膜色素上皮 (RPE) 吞噬通路的破坏和常染色体隐性色素性视网膜色素变性 (RP) 的发作有关。[RefSeq 提供,2008 年 7 月]

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

MERTK 基因产物(1)

mRNA Protein Name
NM_006343.3 NP_006334.2 tyrosine-protein kinase Mer precursor

MERTK 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (96 - 179)

Ig_2

Ig_2: Immunoglobulin domain (203 - 280)

fn3

fn3: Fibronectin type III domain (285 - 369)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (588 - 852)

  • 0
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  • 999 a.a.
蛋白主名 其他名称

tyrosine-protein kinase Mer

MER receptor tyrosine kinase

重组 MERTK 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73821 Mer Protein, Human (sf9, His-GST) Q12866 (E578-Y872) ≥95%
HY-P73822 Mer Protein, Human (sf9) Q12866 (E578-Y872) ≥95%
HY-P73823 Mer Protein, Human (HEK293, His-Fc) Q12866 (A21-A499) ≥95%
HY-P73824 Mer Protein, Human (HEK293) Q12866 (A21-A499) ≥95%
HY-P78489 Mer Protein, Human (HEK293, mFc) Q12866 (A21-I505) ≥95%
HY-P700442 MERTK Protein, Human (HEK293, His) Q12866 (A21-I505) ≥95%

关联疾病

疾病名称 别名
Retinitis Pigmentosa 38

RP38

Rod-Cone Dystrophy, Childhood-Onset

Retinitis Pigmentosa, Type 38

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinitis
Retinoschisis 1, X-Linked, Juvenile

Retinoschisis

X-Linked Retinoschisis

X-Linked Juvenile Retinoschisis

RS1

XLRS1

X-Linked Juvenile Retinoschisis 1

Xlrs

Retinoschisis, X-Linked

Rs

Congenital X-Linked Retinoschisis

Degenerative Retinoschisis

Juvenile Retinoschisis

Xjr

Retinoschisis Juvenile X-Linked 1

Retinoschisis, Juvenile, X-Linked

Retinoschisis, Degenerative

La Crosse Encephalitis

California Encephalitis

California Virus Encephalitis

Neuroinvasive California Encephalitis Virus Infection

Californian Encephalitis

Encephalitis, California

California Meningoencephalitis

California Encephalitis Virus Infection

California Encephalitis Virus Infection Neuroinvasive Disease

California Meningoencephalitis Virus Disease

California Serogroup Virus Neuroinvasive Disease

California Viral Encephalitis

Ce - [California Encephalitis]

Lac - [La Crosse Encephalitis]

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Retinal Degeneration

Degeneration Of Retina

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Leber Congenital Amaurosis 2

LCA2

Amaurosis Congenita Of Leber Ii

Amaurosis Congenita Of Leber, Type 2

Leber Congenital Amaurosis Type Ii

Leber Congenital Amaurosis, Type 2

Leber Congenital Amaurosis, Type Ii

Filamentary Keratitis
Choroid Disease

Choroid Diseases

Abnormality Of The Choroid

Eye Degenerative Disease
Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

Choroideremia

CHM

Tcd

Progressive Tapetochoroidal Dystrophy

Choroidal Sclerosis

Tapetochoroidal Dystrophy, Progressive

Progressive Choroidal Atrophy

Tapetochoroidal Dystrophy

Retinitis Pigmentosa 50

RP50

Retinitis Pigmentosa, Concentric

Retinitis Pigmentosa-50

Retinitis Pigmentosa Concentric

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina

Degeneration Of Macula Or Posterior Pole

Macular Degeneration Nos

Degenerative Disorder Of Macula

Drusen Macular Degeneration

Posterior Pole Macular Degeneration Of Eye

Macular Eye Degeneration

Macular Degeneration Of Retina, Unspecified

Pseudohole Degeneration Of Macula Of Retina

Vitelliform Macular Dystrophy

Best Disease

Juvenile-Onset Vitelliform Macular Dystrophy

Macular Dystrophy, Vitelliform

Best Macular Dystrophy

Vitelliform Dystrophy

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Mus musculus MERTK MGD MGI:96965
Felis catus MERTK VGNC VGNC:68237
Macaca mulatta MERTK VGNC VGNC:74706
Canis familiaris MERTK VGNC VGNC:43162
Bos taurus MERTK VGNC VGNC:31391
Rattus norvegicus MERTK RGD RGD:69283
Macaca fascicularis MERTK NCBI
Others MERTK NCBI