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

IQSEC3 - IQ motif and Sec7 domain ArfGEF 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 440073 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Sec7

Sec7: Sec7 domain (651 - 839)

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  • 1182 a.a.
Protein Preferred Names Protein Names

IQ motif and SEC7 domain-containing protein 3

IQ motif and Sec7 domain 3

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06890 IQSEC3 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source 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