2. Gene
  3. KIRREL2 - kirre like nephrin family adhesion molecule 2 Gene

KIRREL2 - kirre like nephrin family adhesion molecule 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：kirre 样 nephrin 家族粘附分子 2

种属: Homo sapiens

同用名: NLG1; NEPH3; FILTRIN

基因 ID: 84063 | 基因类型: protein coding

关于 KIRREL2

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,851,399-35,867,136 (from NCBI)

This gene has 5 transcripts (splice variants), 192 orthologues and 3 paralogues. Biased expression in pancreas (RPKM 5.8), kidney (RPKM 0.6) and 3 other tissues.

功能概要

该基因编码 I 型跨膜蛋白和细胞粘附分子免疫球蛋白超家族的成员。编码的蛋白质定位于胰腺 β 细胞的粘附连接并调节胰岛素分泌。已在 1 型糖尿病患者的血清中检测到针对编码蛋白的自身抗体。该基因也可能在肾小球发育中发挥作用，并且已经在人类肾小球疾病中观察到该基因的表达降低。该基因和相关的反链基因 nephrin (GeneID: 527362) 受双向启动子调控。[RefSeq 提供，2016 年 7 月]

This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates Insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]

KIRREL2 基因产物(5)

mRNA Protein Name
NM_001329530.2 NP_001316459.1 kin of IRRE-like protein 2 isoform d precursor
NM_001363667.2 NP_001350596.1 kin of IRRE-like protein 2 isoform e precursor
NM_032123.7 NP_115499.5 kin of IRRE-like protein 2 isoform a precursor
NM_199179.4 NP_954648.3 kin of IRRE-like protein 2 isoform b precursor
NM_199180.4 NP_954649.3 kin of IRRE-like protein 2 isoform c precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断
蛋白主名 其他名称

kin of IRRE-like protein 2

kin of IRRE like 2

KIRREL2 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
种属内
KIRREL2 Q6UWL6 PSMA3 Homo sapiens P25788
Validated Y2H
25416956
种属内
KIRREL2 Q6UWL6 PSMA3 Homo sapiens P25788
Y2H Prey Pooling
25416956
种属内
KIRREL2 Q6UWL6 FHL3 Homo sapiens Q13643
Y2H Array
25416956
种属内
KIRREL2 Q6UWL6 FHL3 Homo sapiens Q13643
Validated Y2H
25416956
种属内
KIRREL2 Q6UWL6 FHL3 Homo sapiens Q13643
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KIRREL2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77043 KIRREL2/NEPH3 Protein, Human (HEK293, Fc) Q6UWL6-1 (G21-R503) ≥95%
HY-P77044 KIRREL2/NEPH3 Protein, Human (HEK293, His) Q6UWL6-1 (G21-R503) ≥95%

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 1

Finnish Congenital Nephrosis

NPHS1

Cnf

Finnish Congenital Nephrotic Syndrome

Nephrotic Syndrome Type 1

Nephrosis, Congenital

Congenital Nephrotic Syndrome

Nephrotic Syndrome, Congenital

Congenital Nephrotic Syndrome Finnish Type

Congenital Nephrotic Syndrome 1

Nephrosis 1, Congenital, Finnish Type

Congenital Nephrotic Syndrome, Finnish Type

Nephrotic Syndrome 1

Congenital Nephrotic Syndrome Of The Finnish Type
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Basan Syndrome

Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities

Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease

Baird Syndrome

Absence Of Fingerprints-Congenital Milia Syndrome

Absence Of Fingerprints Congenital Milia

Absence Of Dermatoglyphics Congenital Milia

Absence Of Dermatoglyphics-Congenital Milia Syndrome

Basan-Baird Syndrome

BSNS

Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities
Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome

Nephrosis, Congenital

Finnish Congenital Nephrotic Syndrome
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Hematuria, Benign Familial

Benign Familial Hematuria

BFH

Thin Membrane Nephropathy

Tmn

Thin Basement Membrane Nephropathy

Thin-Basement-Membrane Nephropathy

Hematuria, Familial Benign

Hematuria Benign Familial

Hematuria, Benign, Familial

Thin Basement Membrane Disease
Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant

Alport Syndrome Dominant Type

Renal Failure And Sensorineural Hearing Loss

Alport Syndrome, Dominant Type
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07313 KIRREL2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta KIRREL2 VGNC VGNC:97781
Mus musculus KIRREL2 MGD MGI:2442334
Canis familiaris KIRREL2 VGNC VGNC:42419
Rattus norvegicus KIRREL2 RGD RGD:1308456
Felis catus KIRREL2 VGNC VGNC:63123
Bos taurus KIRREL2 VGNC VGNC:30615
Others KIRREL2 NCBI
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