KIRREL3 - kirre like nephrin family adhesion molecule 3 Gene

中文名称：kirre 样 nephrin 家族粘附分子 3

种属: Homo sapiens

同用名: MRD4; KIRRE; NEPH2; PRO4502

基因 ID: 84623 | 基因类型: protein coding

关于 KIRREL3

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:126,423,358-127,000,870 (from NCBI)

This gene has 9 transcripts (splice variants), 246 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 6.0), adrenal (RPKM 0.5) and 1 other tissue.

功能概要

由该基因编码的蛋白质是 nephrin 样蛋白质家族的成员。这些蛋白质在胎儿和成人大脑中表达，也在肾小球的足细胞中表达。这些蛋白质的细胞质结构域与足细胞蛋白的 C 末端相互作用，足细胞蛋白也表达于足细胞，足细胞是参与确保大小和电荷选择性超滤的细胞。该基因编码的蛋白质是一种突触细胞粘附分子，具有多个细胞外免疫球蛋白样结构域和细胞质 PDZ 结构域结合基序。该基因的突变与多种神经和认知障碍有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2017 年 7 月]

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

KIRREL3 基因产物(3)

mRNA	Protein	Name
NM_001161707.1	NP_001155179.1	kin of IRRE-like protein 3 isoform 2 precursor
NM_001301097.1	NP_001288026.1	kin of IRRE-like protein 3 isoform 3 precursor
NM_032531.4	NP_115920.1	kin of IRRE-like protein 3 isoform 1 precursor

基因本体论

分子功能
细胞组分

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	12424224	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in synaptic vesicle	IDA IDA: 通过直接分析推断	25902260	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

KIRREL3 蛋白结构

I-set

C2-set_2

Ig_2

I-set

0
200
400
600
778 a.a.

蛋白主名

其他名称

kin of IRRE-like protein 3

kin of IRRE like 3

KIRREL3 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	KIRREL3	Q8IZU9	UFC1	Homo sapiens	Q9Y3C8	Y2H	25902260
种属内	KIRREL3	Q8IZU9	UFC1	Homo sapiens	Q9Y3C8	Anti Tag CoIP	25902260
种属内	KIRREL3	Q8IZU9	UFC1	Homo sapiens	Q9Y3C8	IF	25902260
种属内	KIRREL3	Q8IZU9	RDX	Homo sapiens	P35241	FPS	34799561
种属内	KIRREL3	Q8IZU9	MYO16	Homo sapiens	Q9Y6X6	IF	25902260
种属内	KIRREL3	Q8IZU9	MYO16	Homo sapiens	Q9Y6X6	Y2H	25902260
种属内	KIRREL3	Q8IZU9	MYO16	Homo sapiens	Q9Y6X6	Anti Tag CoIP	25902260
种属内	KIRREL3	Q8IZU9	SHMT2	Homo sapiens	P34897	Y2H	25902260
种属内	KIRREL3	Q8IZU9	SHMT2	Homo sapiens	P34897	Anti Tag CoIP	25902260
种属内	KIRREL3	Q8IZU9	SHMT2	Homo sapiens	P34897	IF	25902260
种属内	KIRREL3	Q8IZU9	ATP1B1	Homo sapiens	P05026	Y2H	25902260
种属内	KIRREL3	Q8IZU9	ATP1B1	Homo sapiens	P05026	Anti Tag CoIP	25902260
种属内	KIRREL3	Q8IZU9	ATP1B1	Homo sapiens	P05026	IF	25902260
种属内	KIRREL3	Q8IZU9	P46821-PRO_0000018605	Homo sapiens	P46821-PRO_0000018605	IF	25902260
种属内	KIRREL3	Q8IZU9	P46821-PRO_0000018605	Homo sapiens	P46821-PRO_0000018605	Anti Tag CoIP	25902260
种属内	KIRREL3	Q8IZU9	P46821-PRO_0000018605	Homo sapiens	P46821-PRO_0000018605	Y2H	25902260

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

Autosomal Dominant Non-Syndromic Intellectual Disability

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4	Autosomal Dominant Non-Syndromic Intellectual Disability 4
Mental Retardation, Autosomal Dominant 4	Autosomal Dominant Intellectual Developmental Disorder 4

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome	Partial 11q Monosomy Syndrome
Jacobsen Distal 11q Deletion Syndrome	JBS
11q Partial Monosomy Syndrome	Chromosome 11q Deletion
11q Deletion	11q Monosomy
Deletion 11q	Monosomy 11q
Partial Monosomy 11q	11q Deletion Disorder
11q Deletion Syndrome	11q Terminal Deletion Disorder
11q- Deletion Syndrome	11q23 Deletion Disorder
Jacobsen Thrombocytopenia	11q Terminal Deletion Syndrome
Del(11)(Q23.3)	Del(11)(Qter)
Distal Deletion 11q	Distal Monosomy 11q
Monosomy 11qter	Telomeric Deletion 11q
Paris-Trousseau Thrombocytopenia

Heimler Syndrome 2

HMLR2	Peroxisome Biogenesis Disorder 4c
Pbd4c	Peroxisomal Biogenesis Disorder 4c
Heimler Syndrome, Type 2

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

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07314	KIRREL3 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	KIRREL3	VGNC	VGNC:101296
Mus musculus	KIRREL3	MGD	MGI:1914953
Felis catus	KIRREL3	VGNC	VGNC:63124
Rattus norvegicus	KIRREL3	RGD	RGD:1311382
Canis familiaris	KIRREL3	VGNC	VGNC:42420
Bos taurus	KIRREL3	VGNC	VGNC:55058
Others	KIRREL3	NCBI

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