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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 implicate... See more...
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
- IQ Motif And SEC7 Domain-Containing Protein 2 3 4
- 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
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
- GC0XM053278
- 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 Summary 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 , Rfam classification 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:
-
- AREB6
- CP2
- HEN1
- NF-1
- NF-1/L
- Nkx2-5
- Pax-4a
- POU2F1
- POU2F1a
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 HGNC
- Xp11.22 by Entrez Gene
- 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
- A0A1W2PQN3
- 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
- Novus Biologicals Antibodies for IQSEC2
- Invitrogen Antibodies for IQSEC2 (AFLGC-IQSEC2)
-
Biorbyt antibodies for IQSEC2
-
Custom Antibody ServicesProSci Antibodies for IQSEC2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IQSEC2
- Origene Custom Protein Services for IQSEC2
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for IQSEC2 Gene
- GenScript: Design optimal peptide antigens:
-
- Brefeldin A resistant Arf-guanine nucleotide exchange factor 1b (C7SDG0_HUMAN)
- Brefeldin A resistant Arf-guanine nucleotide exchange factor 1 (C7SDG2_HUMAN)
- Brefeldin A resistant Arf-guanine nucleotide exchange factor 1 (C7SDG3_HUMAN)
- IQ motif and SEC7 domain-containing protein 2 (IQEC2_HUMAN)
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
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for IQSEC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IQSEC2
- genomics-online: gRNA clones - Search for available IQSEC2 gRNA products
- Overview of 80 available IQSEC2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for IQSEC2 - Select products 50% OFF >
- * IQSEC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * IQSEC2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
- Origene sirna, shrna, and RNAi products in human, mouse, rat for IQSEC2
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- genomics-online: shRNA clones - Search for available IQSEC2 shRNA products
- Overview of 80 available IQSEC2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for IQSEC2
- Addgene plasmids for IQSEC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IQSEC2
- genomics-online: cdna clones - Search for available IQSEC2 CDNA products
- Overview of 80 available IQSEC2 gene related products
- orf clones - Search for available IQSEC2 ORF products
- Overview of 80 available IQSEC2 gene related products
- Applied Biological Materials (abm): Clones for IQSEC2 - Select products 50% OFF >
- * IQSEC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * IQSEC2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
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 | 2 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| plasma membrane | 0 |
| mitochondrion | 0 |
| peroxisome | 0 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0098685 | Schaffer collateral - CA1 synapse | IMP | 27009485 |
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030036 | actin cytoskeleton organization | IBA | 21873635 |
| GO:0032012 | regulation of ARF protein signal transduction | IEA | -- |
| GO:0050804 | modulation of chemical synaptic transmission | IMP | 27009485 |
| GO:0098696 | regulation of neurotransmitter receptor localization to postsynaptic specialization membrane | IMP | 27009485 |
No data available for SIGNOR curated interactions for IQSEC2 Gene
Transcripts for IQSEC2 Gene
mRNA/cDNA for IQSEC2 Gene
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (28) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000638869 3000 bps (ENST00000638869.1)
- ENST00000639796 2351 bps (ENST00000639796.1)
- ENST00000638521 4501 bps (ENST00000638521.1)
- ENST00000640005 1323 bps (ENST00000640005.1)
- ENST00000640694 5958 bps (ENST00000640694.1)
CRISPR Products
-
OriGene CRISPR knockouts for IQSEC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IQSEC2
- genomics-online: gRNA clones - Search for available IQSEC2 gRNA products
- Overview of 80 available IQSEC2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for IQSEC2 - Select products 50% OFF >
- * IQSEC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * IQSEC2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for IQSEC2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for IQSEC2
- Browse OriGene Inhibitory RNA Products For IQSEC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQSEC2
- genomics-online: shRNA clones - Search for available IQSEC2 shRNA products
- Overview of 80 available IQSEC2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for IQSEC2
- Addgene plasmids for IQSEC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IQSEC2
- genomics-online: cdna clones - Search for available IQSEC2 CDNA products
- Overview of 80 available IQSEC2 gene related products
- orf clones - Search for available IQSEC2 ORF products
- Overview of 80 available IQSEC2 gene related products
- Applied Biological Materials (abm): Clones for IQSEC2 - Select products 50% OFF >
- * IQSEC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * IQSEC2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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
- genomics-online: primer clones - Search for available IQSEC2 Primer products
- Overview of 80 available IQSEC2 gene related products
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 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | IQSEC2 33 |
|
OneToOne | |
| LOC491895 32 |
|
||||
| cow (Bos Taurus) |
Mammalia | IQSEC2 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Iqsec2 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Iqsec2 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | IQSEC2 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | IQSEC2 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | IQSEC2 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | iqsec2 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | iqsec2 33 32 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | siz 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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
Paralogs for IQSEC2 Gene
(4) SIMAP similar genes for IQSEC2 Gene using alignment to 2 proteins:
- IQEC2_HUMAN
- L8E757_HUMAN
Variants for IQSEC2 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1003745171 | likely-benign, History of neurodevelopmental disorder | 53,320,555(-) | G/A/C | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1037744173 | benign, 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, Autistic disorder of childhood onset, 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 |
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 56
- 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 56
- 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 56
- The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
ExternalLinks
Products for IQSEC2 Gene
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- Browse Antibodies
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- Invitrogen Antibodies for IQSEC2 (AFLGC-IQSEC2)
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- antibodies-online: Show 3 available IQSEC2 Antibodies ranked by validation data
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- genomics-online: cdna clones - Search for available IQSEC2 CDNA products
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- Overview of 80 available IQSEC2 gene related products
- genomics-online: shRNA clones - Search for available IQSEC2 shRNA products
- Overview of 80 available IQSEC2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IQSEC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IQSEC2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for IQSEC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQSEC2
- Biorbyt antibodies for IQSEC2
Sources for IQSEC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource