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IQSEC2 IQ motif and Sec7 domain 2 [ Homo sapiens (human) ]

Gene ID: 23096, updated on 27-Oct-2018

Summary

Official Symbol
IQSEC2provided by HGNC
Official Full Name
IQ motif and Sec7 domain 2provided by HGNC
Primary source
HGNC:HGNC:29059
See related
Ensembl:ENSG00000124313 MIM:300522; Vega:OTTHUMG00000021608
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRX1; BRAG1; MRX18; MRX78; IQ-ArfGEF
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 5.1), adrenal (RPKM 1.4) and 23 other tissues See more
Orthologs

Genomic context

See IQSEC2 in Genome Data Viewer
Location:
Xp11.22
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (53225784..53321356, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53262058..53350522, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene lysine demethylase 5C Neighboring gene microRNA 6895 Neighboring gene microRNA 6894 Neighboring gene ribosomal protein SA pseudogene 62 Neighboring gene mpv17-like protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, X-linked 1
MedGen: C2931498 OMIM: 309530 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-09-11)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2017-09-11)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0522

General protein information

Preferred Names
IQ motif and SEC7 domain-containing protein 2
Names
brefeldin A resistant Arf-guanine nucleotide exchange factor 1
brefeldin A resistant Arf-guanine nucleotide exchange factor 1b
brefeldin A resistant Arf-guanine nucleotide exchange factor 1c
mental retardation, X-linked 18

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021296.2 RefSeqGene

    Range
    5027..93475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001111125.2NP_001104595.1  IQ motif and SEC7 domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001104595.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB011094, AL139396
    Consensus CDS
    CCDS48130.1
    UniProtKB/Swiss-Prot
    Q5JU85
    Related
    ENSP00000379712.3, OTTHUMP00000023347, ENST00000396435.9, OTTHUMT00000056743
    Conserved Domains (3) summary
    pfam01369
    Location:753941
    Sec7; Sec7 domain
    pfam08614
    Location:2364
    ATG16; Autophagy protein 16 (ATG16)
    pfam16453
    Location:9641093
    IQ_SEC7_PH; PH domain
  2. NM_001243197.1NP_001230126.1  IQ motif and SEC7 domain-containing protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001230126.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) shares no exons with variant 1, and differs in the 3' UTR and coding region compared to variant 2. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 2.
    Source sequence(s)
    BC108674, BX119489, DA433389
    Consensus CDS
    CCDS87748.1
    UniProtKB/TrEMBL
    A0A1W2PQN3
    Related
    ENSP00000491796.1, ENST00000639161.1
  3. NM_015075.1NP_055890.1  IQ motif and SEC7 domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_055890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a novel ATG and an isoform (2) with distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AB011094, AK095232
    Consensus CDS
    CCDS35298.1
    UniProtKB/Swiss-Prot
    Q5JU85
    Related
    ENSP00000364514.2, OTTHUMP00000023346, ENST00000375365.2, OTTHUMT00000056742
    Conserved Domains (2) summary
    pfam01369
    Location:548736
    Sec7; Sec7 domain
    pfam16453
    Location:759888
    IQ_SEC7_PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    53225784..53321356 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724582.4XP_006724645.1  IQ motif and SEC7 domain-containing protein 2 isoform X8

    Conserved Domains (3) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam08614
    Location:2364
    ATG16; Autophagy protein 16 (ATG16)
    pfam16453
    Location:9961125
    IQ_SEC7_PH; PH domain
  2. XM_006724581.4XP_006724644.1  IQ motif and SEC7 domain-containing protein 2 isoform X6

    Conserved Domains (3) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam08614
    Location:2364
    ATG16; Autophagy protein 16 (ATG16)
    pfam16453
    Location:9961125
    IQ_SEC7_PH; PH domain
  3. XM_006724583.4XP_006724646.1  IQ motif and SEC7 domain-containing protein 2 isoform X9

    Conserved Domains (2) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam16453
    Location:9981125
    IQ_SEC7_PH; PH domain
  4. XM_006724579.3XP_006724642.1  IQ motif and SEC7 domain-containing protein 2 isoform X2

    Conserved Domains (3) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam08614
    Location:2364
    ATG16; Autophagy protein 16 (ATG16)
    pfam16453
    Location:9961125
    IQ_SEC7_PH; PH domain
  5. XM_017029359.2XP_016884848.1  IQ motif and SEC7 domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q5JU85
    Conserved Domains (3) summary
    pfam01369
    Location:743931
    Sec7; Sec7 domain
    pfam08614
    Location:2364
    ATG16; Autophagy protein 16 (ATG16)
    pfam16453
    Location:9541083
    IQ_SEC7_PH; PH domain
  6. XM_006724584.3XP_006724647.1  IQ motif and SEC7 domain-containing protein 2 isoform X10

    Related
    ENSP00000492403.1, ENST00000640694.1
    Conserved Domains (3) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam08614
    Location:2364
    ATG16; Autophagy protein 16 (ATG16)
    pfam16453
    Location:9961125
    IQ_SEC7_PH; PH domain
  7. XM_017029360.1XP_016884849.1  IQ motif and SEC7 domain-containing protein 2 isoform X3

    Conserved Domains (2) summary
    pfam01369
    Location:587775
    Sec7; Sec7 domain
    pfam16453
    Location:798927
    IQ_SEC7_PH; PH domain
  8. XM_011530773.2XP_011529075.1  IQ motif and SEC7 domain-containing protein 2 isoform X5

    See identical proteins and their annotated locations for XP_011529075.1

    Conserved Domains (2) summary
    pfam01369
    Location:516704
    Sec7; Sec7 domain
    pfam16453
    Location:727856
    IQ_SEC7_PH; PH domain
  9. XM_006724580.3XP_006724643.1  IQ motif and SEC7 domain-containing protein 2 isoform X4

    See identical proteins and their annotated locations for XP_006724643.1

    Conserved Domains (2) summary
    pfam01369
    Location:548736
    Sec7; Sec7 domain
    pfam16453
    Location:759888
    IQ_SEC7_PH; PH domain
  10. XM_011530774.3XP_011529076.1  IQ motif and SEC7 domain-containing protein 2 isoform X7

    Conserved Domains (2) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam16453
    Location:9981125
    IQ_SEC7_PH; PH domain
  11. XM_011530777.2XP_011529079.1  IQ motif and SEC7 domain-containing protein 2 isoform X12

    Conserved Domains (2) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam16453
    Location:9981125
    IQ_SEC7_PH; PH domain
  12. XM_011530776.2XP_011529078.1  IQ motif and SEC7 domain-containing protein 2 isoform X11

    Conserved Domains (3) summary
    pfam01369
    Location:785973
    Sec7; Sec7 domain
    pfam08614
    Location:2364
    ATG16; Autophagy protein 16 (ATG16)
    pfam16453
    Location:9961124
    IQ_SEC7_PH; PH domain

RNA

  1. XR_938365.2 RNA Sequence

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