2. Gene
  3. IQSEC3 - IQ motif and Sec7 domain ArfGEF 3 Gene

IQSEC3 - IQ motif and Sec7 domain ArfGEF 3 Gene

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

中文名称：IQ 基序和 Sec7 域 ArfGEF 3

种属: Homo sapiens

基因 ID: 440073 | 基因类型: protein coding

关于 IQSEC3

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:66,767-178,455 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 229 orthologues and 15 paralogues. Biased expression in brain (RPKM 5.8), fat (RPKM 2.6) and 12 other tissues.

功能概要

预测可启用胍基核苷酸交换因子活性。预计参与多个过程，包括肌动蛋白细胞骨架组织；激活 GTPase 活性；和调节小 GTPase 介导的信号转导。位于细胞质和核质中。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including actin Cytoskeleton organization; activation of GTPase activity; and regulation of small GTPase mediated signal transduction. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

IQSEC3 基因产物(2)

mRNA Protein Name
NM_001170738.2 NP_001164209.1 IQ motif and SEC7 domain-containing protein 3 isoform 1
NM_015232.2 NP_056047.1 IQ motif and SEC7 domain-containing protein 3 isoform 2

IQSEC3 蛋白结构

Sec7

Sec7: Sec7 domain (651 - 839)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1182 a.a.
蛋白主名 其他名称

IQ motif and SEC7 domain-containing protein 3

IQ motif and Sec7 domain 3

关联疾病

疾病名称 别名
Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18
Adult Pineal Parenchymal Tumor

Adult Pineal Parenchymal Neoplasm
Adult Pineoblastoma
Temtamy Syndrome

TEMTYS

Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation

Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome

Dysmorphism, Corpus Callosum Agenesis And Colobomas

Temtamy-Shalash Syndrome

Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
Periodontosis

Periodontitis, Juvenile

Parodontosis

Paradentosis
Cantu Syndrome

Hypertrichotic Osteochondrodysplasia

Hypertrichotic Osteochondrodysplasia Cantu Type

Cantú Syndrome

Craniofaciocardioskeletal Syndrome

Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

Congenital Hypertrichosis-Coarse Facial Features Spectrum

HTOCD

Osteochondrodysplasia, Hypertrichotic
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
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-RS06890 IQSEC3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus IQSEC3 MGD MGI:2677208
Canis familiaris IQSEC3 VGNC VGNC:42085
Bos taurus IQSEC3 VGNC VGNC:56211
Macaca mulatta IQSEC3 VGNC VGNC:73679
Rattus norvegicus IQSEC3 RGD RGD:1593191
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