1. Gene
  2. NPNT - nephronectin Gene

NPNT - nephronectin Gene

中文名称:肾连蛋白

种属: Homo sapiens

同用名: POEM; EGFL6L

基因 ID: 255743 | 基因类型: protein coding

关于 NPNT

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:105,895,471-105,971,671 (from NCBI)

This gene has 16 transcripts (splice variants), 250 orthologues and 1 paralogue. Biased expression in thyroid (RPKM 91.1), lung (RPKM 60.2) and 10 other tissues.

功能概要

预测启用整合素结合活动。预计参与多个过程,包括整合素介导的细胞间粘附; ERK1ERK2 级联的正调控;和成骨细胞分化的正调控。预计在转化生长因子 β 受体信号通路的正调节上游或正调节内起作用。位于细胞外外泌体。含有胶原蛋白的细胞外基质的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable Integrin binding activity. Predicted to be involved in several processes, including cell-cell adhesion mediated by integrin; positive regulation of ERK1 and ERK2 cascade; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within positive regulation of transforming growth factor beta receptor signaling pathway. Located in extracellular exosome. Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]

NPNT 基因产物(5)

mRNA Protein Name
NM_001033047.3 NP_001028219.1 nephronectin isoform B precursor
NM_001184690.2 NP_001171619.1 nephronectin isoform A precursor
NM_001184691.2 NP_001171620.1 nephronectin isoform C precursor
NM_001184692.2 NP_001171621.1 nephronectin isoform D precursor
NM_001184693.2 NP_001171622.1 nephronectin isoform E precursor

NPNT 蛋白结构

EGF_CA

EGF_CA: Calcium-binding EGF domain (89 - 120)

EGF_CA

EGF_CA: Calcium-binding EGF domain (169 - 202)

EGF_CA

EGF_CA: Calcium-binding EGF domain (214 - 253)

MAM

MAM: MAM domain, meprin/A5/mu (422 - 563)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 565 a.a.
蛋白主名 其他名称

nephronectin

preosteoblast EGF-like repeat protein with MAM domain

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities

NPHS5

Nephrotic Syndrome Type 5

Nephrotic Syndrome Type 5, With Or Without Ocular Abnormalities

Nephrotic Syndrome 5 With Or Without Ocular Abnormalities

Nephrotic Syndrome, Type 5, With/Without Ocular Abnormalities

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Fibrosarcomatous Osteosarcoma

Fibroblastic Osteosarcoma

Fibrosarcomatous Osteogenic Sarcoma

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

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 NPNT VGNC VGNC:43924
Macaca mulatta NPNT VGNC VGNC:75266
Mus musculus NPNT MGD MGI:2148811
Bos taurus NPNT VGNC VGNC:32209
Felis catus NPNT VGNC VGNC:63872
Rattus norvegicus NPNT RGD RGD:1593709