1. Gene
  2. IFNL4 - interferon lambda 4 (gene/pseudogene) Gene

IFNL4 - interferon lambda 4 (gene/pseudogene) Gene

中文名称:干扰素 λ 4 (基因/假基因)

种属: Homo sapiens

同用名: IFNAN

基因 ID: 101180976 | 基因类型: protein coding

关于 IFNL4

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,246,314-39,248,856 (from NCBI)

This gene has 3 transcripts (splice variants) and 6 orthologues. Low expression observed in reference dataset.

功能概要

该基因是一种多态性假基因,在某些人类中,它编码干扰素 (IFN) λ 4 蛋白。人类具有二核苷酸 TT/deltaG 等位基因的多态性。与非人类灵长类动物的祖先状态相比,TT 等位基因在该基因的编码区产生移码,预计会诱导无义介导的 mRNA 衰变。这个等位基因,以及这个基因第一个内含子中的一个等位基因,已经经历了频率的快速增加并显示出正选择的迹象。这些等位基因的原始状态与清除丙型肝炎病毒的能力受损有关。该基因与其他 III 型干扰素 (IFN) 一样,与 IFN λ 受体复合物 (IFNLR) 相互作用,后者的信号传导通常仅限于上皮细胞。该基因位于染色体 19q13.2 上的四个 III 型 IFN 基因簇和至少两个假基因中。通常,干扰素是响应病毒感染而产生的,并通过激活 JAK-STAT 通路和上调抗病毒基因来阻止病毒复制和传播到未感染的细胞。已经描述了该基因的多个可变剪接转录物,但它们的生物学有效性和蛋白质编码状态仍在确定中。[RefSeq 提供,2017 年 5 月]

This gene is a polymorphic pseudogene which, in some humans, encodes the interferon (IFN) lambda 4 protein. Humans are polymorphic for the dinucleotide TT/deltaG allele. Compared to the ancestral state in non-human primates, the TT allele produces a frameshift in the coding region of this gene which is predicted to induce nonsense-mediated mRNA decay. This allele, and an allele in the first intron of this gene, have experienced a rapid increase in frequency and show indications of positive selection. The ancestral states of these alleles are associated with an impaired ability to clear hepatitis C virus. This gene, like Other type III interferons (IFNs), interacts with the IFN lambda receptor complex (IFNLR) whose signaling is generally restricted to epithelial cells. This gene resides in a cluster of four type III IFN genes and at least two pseudogenes on chromosome 19q13.2. In general, interferons are produced in response to viral Infection and block viral replication and propagation to uninfected cells by activating the JAK-STAT pathway and up-regulating Antiviral genes. Multiple alternatively spliced transcripts have been described for this gene but their biological validity and protein coding status is still being ascertained. [provided by RefSeq, May 2017]

IFNL4 基因产物(1)

mRNA Protein Name
NM_001276254.2 NP_001263183.2 interferon lambda-4 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cytokine activity IMP
IMP: 通过突变表型推断
23291588 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to virus IMP
IMP: 通过突变表型推断
23291588 GOA
involved in tyrosine phosphorylation of STAT protein IDA
IDA: 通过直接分析推断
23291588 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23291588 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
23291588 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

interferon lambda-4

IFN-lambda-4

关联疾病

疾病名称 别名
Hepatitis C Virus

Hepatitis C Virus, Susceptibility To

Hepatitis C Virus Infection, Response To Therapy Of

Hcv

Hcv, Susceptibility To

Hepatitis C Virus, Resistance To

Hepatitis C Virus, Response To Therapy Of

Resistance To Hepatitis C Virus

Hepatitis C

Chronic Hepatitis C

Hepatitis C Infection

Hepatitis Nona Nonb

Nanbh

Viral Hepatitis C

Hepatitis C Chronic

Hepatitis C, Chronic

Chronic Type C Viral Hepatitis

Chronic Hcv - [Hepatitis C Virus] Infection

Hepatitis C Nos

Hepatitis C Infection Nos

Hepatitis C-Related Cirrhosis

Type C Viral Hepatitis

Hep C Nos

Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec

Cytomegalovirus Retinitis

Cmv Retinitis

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