Aliases for IQSEC2 Gene
Aliases for IQSEC2 Gene
- IQ Motif And Sec7 Domain 2 2 3 5
- Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1 2 3
- Mental Retardation, X-Linked 18 2 3
- Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1b 3
- Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1c 3
- Mental Retardation, X-Linked 1 (Non-Dysmorphic) 2
- IQ Motif And SEC7 Domain-Containing Protein 2 3
- Mental Retardation, X-Linked 78 2
External Ids for IQSEC2 Gene
- HGNC: 29059
- Entrez Gene: 23096
- Ensembl: ENSG00000124313
- OMIM: 300522
- UniProtKB: Q5JU85
Previous HGNC Symbols for IQSEC2 Gene
- MRX1
- MRX78
- MRX18
Previous GeneCards Identifiers for IQSEC2 Gene
- GC0XM053146
- GC0XM050327
Summaries for IQSEC2 Gene
-
This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
GeneCards Summary for IQSEC2 Gene
IQSEC2 (IQ Motif And Sec7 Domain 2) is a Protein Coding gene. Diseases associated with IQSEC2 include Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome and X-Linked Non-Specific Intellectual Disability. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC1.
UniProtKB/Swiss-Prot for IQSEC2 Gene
-
Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.
Additional gene information for IQSEC2 Gene
- Monarch Initiative
- Search for IQSEC2 at DataMed
- Search for IQSEC2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQSEC2 Gene
Genomics for IQSEC2 Gene
GeneHancer (GH) Regulatory Elements for IQSEC2 Gene
Promoters and enhancers for IQSEC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around IQSEC2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the IQSEC2 gene promoter:
-
- Nkx2-5
- POU2F1a
- POU2F1
- CP2
- HEN1
- NF-1
- NF-1/L
- AREB6
- Pax-4a
Regulatory Element Products
Genomic Locations for IQSEC2 Gene
Genomic Locations for IQSEC2 Gene
- chrX:53,225,828-53,321,350
- (GRCh38/hg38)
- Size:
- 95,523 bases
- Orientation:
- Minus strand
- chrX:53,262,058-53,350,522
- (GRCh37/hg19)
- Size:
- 88,465 bases
- Orientation:
- Minus strand
Genomic View for IQSEC2 Gene
Genes around IQSEC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.22 by Entrez Gene
- Xp11.22 by HGNC
- Xp11.22 by Ensembl
IQSEC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for IQSEC2 Gene
Proteins for IQSEC2 Gene
-
Protein details for IQSEC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5JU85-IQEC2_HUMAN
- Recommended name:
- IQ motif and SEC7 domain-containing protein 2
- Protein Accession:
- Q5JU85
- B3KT97
- C7SDG1
- O60275
- Q5JUX1
Protein attributes for IQSEC2 Gene
- Size:
- 1488 amino acids
- Molecular mass:
- 162784 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA25448.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA25448.1; Type=Frameshift; Positions=1468; Evidence={ECO:0000305}; Sequence=CAI42091.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for IQSEC2 Gene
Post-translational modifications for IQSEC2 Gene
Other Protein References for IQSEC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for IQSEC2
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-
Boster Bio Antibodies for IQSEC2
-
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Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IQSEC2
- Origene Custom Protein Services for IQSEC2
- Search GeneTex for Proteins for IQSEC2
Assay Products
No data available for DME Specific Peptides for IQSEC2 Gene
Domains & Families for IQSEC2 Gene
Gene Families for IQSEC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for IQSEC2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for IQSEC2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q5JU85- Family:
-
- Belongs to the BRAG family.
Function for IQSEC2 Gene
Molecular function for IQSEC2 Gene
- UniProtKB/Swiss-Prot Function:
- Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IMP | 26793055 |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for IQSEC2 Gene
Animal Model Products
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-
CRISPR Products
-
OriGene CRISPR knockouts for IQSEC2
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- Overview of 66 available IQSEC2 gene related products
- Applied Biological Materials CRISPR for IQSEC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IQSEC2
- GenScript: Design CRISPR guide RNA sequences for IQSEC2
miRNA for IQSEC2 Gene
- miRTarBase miRNAs that target IQSEC2
-
- hsa-mir-4728-5p (MIRT487950)
- hsa-mir-8085 (MIRT487951)
- hsa-mir-3175 (MIRT487952)
- hsa-mir-6731-5p (MIRT487953)
- hsa-mir-650 (MIRT487954)
- hsa-mir-3612 (MIRT487955)
- hsa-mir-5192 (MIRT487956)
- hsa-mir-4644 (MIRT487957)
- hsa-mir-4306 (MIRT487958)
- hsa-mir-8077 (MIRT487959)
- hsa-mir-185-5p (MIRT487960)
- hsa-mir-4722-5p (MIRT487961)
- hsa-mir-6133 (MIRT487962)
- hsa-mir-6130 (MIRT487963)
- hsa-mir-6129 (MIRT487964)
- hsa-mir-6127 (MIRT487965)
- hsa-mir-4510 (MIRT487966)
- hsa-mir-4419a (MIRT487967)
- hsa-mir-1827 (MIRT487968)
- hsa-mir-3160-3p (MIRT487969)
- hsa-mir-4739 (MIRT487970)
- hsa-mir-4756-5p (MIRT487971)
- hsa-mir-1321 (MIRT487972)
- hsa-mir-940 (MIRT487973)
- hsa-mir-6893-5p (MIRT487974)
- hsa-mir-6808-5p (MIRT487975)
- hsa-mir-708-5p (MIRT487976)
- hsa-mir-3139 (MIRT487977)
- hsa-mir-28-5p (MIRT487978)
- hsa-mir-6873-5p (MIRT487979)
- hsa-mir-1252-5p (MIRT736516)
- hsa-mir-1299 (MIRT737244)
- hsa-mir-196a-3p (MIRT738645)
- hsa-mir-3202 (MIRT741149)
- hsa-mir-4496 (MIRT745338)
- hsa-mir-4533 (MIRT746013)
- hsa-mir-6128 (MIRT752145)
- hsa-mir-651-3p (MIRT753256)
- hsa-mir-6771-3p (MIRT755304)
- hsa-mir-875-3p (MIRT760354)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for IQSEC2
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Cell Line Products
-
Horizon Cell Lines for IQSEC2
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for IQSEC2 Gene
Localization for IQSEC2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for IQSEC2 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 3 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for IQSEC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endocytosis | ||
Pathways by source for IQSEC2 Gene
1 KEGG pathway for IQSEC2 Gene
Interacting Proteins for IQSEC2 Gene
GPS-Prot Interaction Network for IQSEC2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030036 | actin cytoskeleton organization | IBA | -- |
| GO:0032012 | regulation of ARF protein signal transduction | IEA | -- |
| GO:0065009 | regulation of molecular function | IEA | -- |
No data available for SIGNOR curated interactions for IQSEC2 Gene
Transcripts for IQSEC2 Gene
mRNA/cDNA for IQSEC2 Gene
- (15) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (28) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000638869 3000 bps
- ENST00000639796 2351 bps
- ENST00000638521 4501 bps
- ENST00000640005 1323 bps
- ENST00000640694 5958 bps
Unigene Clusters for IQSEC2 Gene
- IQ motif and Sec7 domain 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for IQSEC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IQSEC2
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- Overview of 66 available IQSEC2 gene related products
- Applied Biological Materials CRISPR for IQSEC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IQSEC2
- GenScript: Design CRISPR guide RNA sequences for IQSEC2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IQSEC2
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- genomics-online: shRNA clones - Search results for 66 available IQSEC2 gene related products
- Overview of 66 available IQSEC2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for IQSEC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IQSEC2
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||
| SP4: |
Expression for IQSEC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
mRNA differential expression in normal tissues according to GTEx for IQSEC2 Gene
This gene is overexpressed in Brain - Cortex (x4.4).
This gene is overexpressed in Brain (12.7), Breast (10.5), Peripheral blood mononuclear cells (10.0), Urine (8.7), Cervix (8.2), Platelet (8.1), and Frontal cortex (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IQSEC2 Gene
NURSA nuclear receptor signaling pathways regulating expression of IQSEC2 Gene:
IQSEC2SOURCE GeneReport for Unigene cluster for IQSEC2 Gene:
Hs.496138mRNA Expression by UniProt/SwissProt for IQSEC2 Gene:
Q5JU85-IQEC2_HUMAN
Tissue specificity:
Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver.
Evidence on tissue expression from TISSUES for IQSEC2 Gene
- Nervous system(4.4)
- Liver(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for IQSEC2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- salivary gland
- skull
- tooth
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
- testicle
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for IQSEC2
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for IQSEC2 Gene
Orthologs for IQSEC2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | IQSEC2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | IQSEC2 34 |
|
OneToOne | |
| LOC491895 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | IQSEC2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Iqsec2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Iqsec2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | IQSEC2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | IQSEC2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | IQSEC2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | iqsec2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | iqsec2 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | siz 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for IQSEC2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for IQSEC2 Gene
- ENSEMBL:
- Gene Tree for IQSEC2 (if available)
- TreeFam:
- Gene Tree for IQSEC2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for IQSEC2: view image
Paralogs for IQSEC2 Gene
Variants for IQSEC2 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1037744173 | uncertain-significance, Mental retardation, X-linked 1 | 53,320,481(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1057518993 | likely-pathogenic, Autism, Severe intellectual deficiency | 53,243,367(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained | |
| rs1057519497 | uncertain-significance, Specific learning disability | 53,320,525(-) | C/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1057520858 | pathogenic, not provided, Mental retardation, X-linked 1 | 53,243,445(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained | |
| rs1057521782 | likely-benign, not specified, Mental retardation, X-linked 1 | 53,234,480(-) | C/T | 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant |
Residual Variation Intolerance Score:
3.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.83;
34.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for IQSEC2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQSEC2 Gene
Disorders for IQSEC2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome |
|
|
| x-linked non-specific intellectual disability |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
|
| iqsec2 |
|
|
| chromosome xp11.23-p11.22 duplication syndrome |
|
|
Search IQSEC2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IQEC2_HUMAN- Mental retardation, X-linked 1 (MRX1) [MIM:309530]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:20473311, ECO:0000269 PubMed:26793055}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for IQSEC2
No data available for Genatlas for IQSEC2 Gene
Publications for IQSEC2 Gene
- Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. (PMID: 26793055) Kalscheuer VM … Harvey RJ (Frontiers in molecular neuroscience 2015) 2 3 4 58
- Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. (PMID: 20473311) Shoubridge C … Gécz J (Nature genetics 2010) 2 3 4 58
- Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
- The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
Products for IQSEC2 Gene
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Sources for IQSEC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
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