1. Gene
  2. KIAA0319L - KIAA0319 like Gene

KIAA0319L - KIAA0319 like Gene

中文名称:KIAA0319 样

种属: Homo sapiens

同用名: AAVR; AAVRL

基因 ID: 79932 | 基因类型: protein coding

关于 KIAA0319L

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:35,433,492-35,557,661 (from NCBI)

This gene has 54 transcripts (splice variants), 217 orthologues, 13 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 17.9), prostate (RPKM 15.0) and 25 other tissues.

功能概要

该基因是阅读障碍易感性的候选基因。[RefSeq 提供,2009 年 4 月]

This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]

KIAA0319L 基因产物(1)

mRNA Protein Name
NM_024874.5 NP_079150.3 dyslexia-associated protein KIAA0319-like protein

KIAA0319L 蛋白结构

REJ

REJ: REJ domain (340 - 542)

REJ

REJ: REJ domain (630 - 793)

  • 0
  • 200
  • 400
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  • 800
  • 1049 a.a.
蛋白主名 其他名称

dyslexia-associated protein KIAA0319-like protein

AAV receptor like

KIAA0319L 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra KIAA0319L Q8IZA0 RTN4R Homo sapiens Q9BZR6
Y2H
20697954
Intra KIAA0319L Q8IZA0 RTN4R Homo sapiens Q9BZR6
Confocal
20697954
Intra KIAA0319L Q8IZA0 SIAH1 Homo sapiens Q8IUQ4
Validated Y2H
25416956
Intra KIAA0319L Q8IZA0 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Dyslexia
Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2

Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal

Hemophilia B

Christmas Disease

Factor Ix Deficiency

F9 Deficiency

HEMB

Plasma Thromboplastin Component Deficiency

Congenital Factor Ix Deficiency

Mild Hemophilia B

Severe Hemophilia B

Congenital Factor Ix Disorder

Deficiency, Functional Factor Ix

Hem B

Mild Congenital F9 Deficiency

Mild Congenital Factor Ix Deficiency

Moderate Hemophilia B

Moderate Congenital F9 Deficiency

Moderate Congenital Factor Ix Deficiency

Severe Congenital F9 Deficiency

Severe Congenital Factor Ix Deficiency

Bleeding Disorder In Hemophilia B Carriers

Congenital F9 Deficiency

Recessive X-Linked Hemophilia B

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

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
Bos taurus KIAA0319L VGNC VGNC:30549
Felis catus KIAA0319L VGNC VGNC:63082
Rattus norvegicus KIAA0319L RGD RGD:2306719
Canis familiaris KIAA0319L VGNC VGNC:42344
Macaca mulatta KIAA0319L VGNC VGNC:73949
Mus musculus KIAA0319L MGD MGI:2140475