1. Gene
  2. IRX5 - iroquois homeobox 5 Gene

IRX5 - iroquois homeobox 5 Gene

中文名称:易洛魁人同源盒 5

种属: Homo sapiens

同用名: HMMS; IRXB2; IRX-2a

基因 ID: 10265 | 基因类型: protein coding

关于 IRX5

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:54,930,865-54,934,485 (from NCBI)

This gene has 4 transcripts (splice variants), 260 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 4.8), skin (RPKM 3.3) and 10 other tissues.

功能概要

该基因编码易洛魁人同源盒基因家族的成员,该家族参与多个胚胎发育过程。敲除该基因的小鼠表明,它是视网膜锥体双极细胞分化所必需的,并且它负向调节心脏中的钾通道基因表达以确保协调的心脏复极化。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,2011 年 11 月]

This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates Potassium Channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

IRX5 基因产物(2)

mRNA Protein Name
NM_001252197.1 NP_001239126.1 iroquois-class homeodomain protein IRX-5 isoform 2
NM_005853.6 NP_005844.4 iroquois-class homeodomain protein IRX-5 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in embryonic cranial skeleton morphogenesis IMP
IMP: 通过突变表型推断
22581230 GOA
involved in gonad development IMP
IMP: 通过突变表型推断
22581230 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

IRX5 蛋白结构

Homeobox_KN

Homeobox_KN: Homeobox KN domain (131 - 170)

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

iroquois-class homeodomain protein IRX-5

homeodomain protein IRX-2A

关联疾病

疾病名称 别名
Hamamy Syndrome

HMMS

Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility

Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

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 IRX5 VGNC VGNC:30289
Canis familiaris IRX5 VGNC VGNC:52139
Macaca mulatta IRX5 VGNC VGNC:73593
Rattus norvegicus IRX5 RGD RGD:1565518
Mus musculus IRX5 MGD MGI:1859086