IQSEC3 - IQ motif and Sec7 domain ArfGEF 3 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 440073

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

0
200
400
600
800
1000
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06890	IQSEC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	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