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Protein

IQ motif and SEC7 domain-containing protein 2

Gene

IQSEC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
IQ motif and SEC7 domain-containing protein 2
Gene namesi
Name:IQSEC2
Synonyms:KIAA0522
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:29059. IQSEC2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 1 (MRX1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:309530
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063742349R → C in MRX1. 1 Publication1
Natural variantiVAR_063743748R → Q in MRX1. 1 Publication1
Natural variantiVAR_063744791Q → P in MRX1. 1 Publication1
Natural variantiVAR_063745853R → W in MRX1. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi23096.
MalaCardsiIQSEC2.
MIMi309530. phenotype.
OpenTargetsiENSG00000124313.
Orphaneti397933. Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA134870898.

Polymorphism and mutation databases

BioMutaiIQSEC2.
DMDMi74742276.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002456081 – 1478IQ motif and SEC7 domain-containing protein 2Add BLAST1478

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei82PhosphoserineBy similarity1
Modified residuei228PhosphoserineBy similarity1
Modified residuei334PhosphoserineCombined sources1
Modified residuei383PhosphoserineCombined sources1
Modified residuei402PhosphoserineCombined sources1
Modified residuei491PhosphoserineBy similarity1
Modified residuei518PhosphoserineBy similarity1
Modified residuei597PhosphoserineBy similarity1
Modified residuei617PhosphoserineBy similarity1
Modified residuei731PhosphoserineBy similarity1
Modified residuei734PhosphoserineBy similarity1
Modified residuei1097PhosphoserineCombined sources1
Modified residuei1119PhosphotyrosineBy similarity1
Modified residuei1133PhosphoserineCombined sources1
Modified residuei1148PhosphoserineBy similarity1
Modified residuei1151PhosphoserineBy similarity1
Modified residuei1162PhosphoserineBy similarity1
Modified residuei1163PhosphoserineBy similarity1
Modified residuei1335Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

MaxQBiQ5JU85.
PaxDbiQ5JU85.
PeptideAtlasiQ5JU85.
PRIDEiQ5JU85.

PTM databases

iPTMnetiQ5JU85.
PhosphoSitePlusiQ5JU85.

Expressioni

Tissue specificityi

Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver.1 Publication

Gene expression databases

BgeeiENSG00000124313.
CleanExiHS_IQSEC2.
GenevisibleiQ5JU85. HS.

Organism-specific databases

HPAiHPA003973.

Interactioni

Protein-protein interaction databases

BioGridi116724. 5 interactors.
DIPiDIP-59490N.
IntActiQ5JU85. 2 interactors.
STRINGi9606.ENSP00000379712.

Structurei

3D structure databases

ProteinModelPortaliQ5JU85.
SMRiQ5JU85.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini337 – 366IQPROSITE-ProRule annotationAdd BLAST30
Domaini736 – 929SEC7PROSITE-ProRule annotationAdd BLAST194
Domaini941 – 1075PHAdd BLAST135

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili23 – 74Sequence analysisAdd BLAST52

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi299 – 302Poly-Glu4
Compositional biasi515 – 656Pro-richAdd BLAST142
Compositional biasi1164 – 1471Pro-richAdd BLAST308
Compositional biasi1229 – 1241His-richAdd BLAST13

Sequence similaritiesi

Belongs to the BRAG family.Curated
Contains 1 IQ domain.PROSITE-ProRule annotation
Contains 1 PH domain.Curated
Contains 1 SEC7 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0931. Eukaryota.
COG5307. LUCA.
GeneTreeiENSGT00760000119036.
HOGENOMiHOG000113099.
HOVERGENiHBG056324.
InParanoidiQ5JU85.
KOiK12495.
OMAiDGAYQNR.
OrthoDBiEOG091G05PW.
PhylomeDBiQ5JU85.
TreeFamiTF323811.

Family and domain databases

CDDicd13318. PH_IQSEC. 1 hit.
Gene3Di1.10.1000.11. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR033742. IQSEC_PH.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR023394. Sec7_alpha_orthog.
IPR000904. Sec7_dom.
[Graphical view]
PfamiPF16453. IQ_SEC7_PH. 1 hit.
PF01369. Sec7. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00222. Sec7. 1 hit.
[Graphical view]
SUPFAMiSSF48425. SSF48425. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS50190. SEC7. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5JU85-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAGSGPPGG PGSESPNRAV EYLLELNNII ESQQQLLETQ RRRIEELEGQ
60 70 80 90 100
LDQLTQENRD LREESQLHRG ELHRDPHGAR DSPGRESQYQ NLRETQFHHR
110 120 130 140 150
ELRESQFHQA ARDVGYPNRE GAYQNREAVY RDKERDASYP LQDTTGYTAR
160 170 180 190 200
ERDVAQCHLH HENPALGRER GGREAGPAHP GREKEAGYSA AVGVGPRPPR
210 220 230 240 250
ERGQLSRGAS RSSSPGAGGG HSTSTSTSPA TTLQRNVEGD APGSDLSTAV
260 270 280 290 300
DSPGSQPPYR LSQLPPSSSH MGGPPAGVGL PWAQRARLQP ASVALRKQEE
310 320 330 340 350
EEIKRSKALS DSYELSTDLQ DKKVEMLERK YGGSFLSRRA ARTIQTAFRQ
360 370 380 390 400
YRMNKNFERL RSSASESRMS RRIILSNMRM QFSFEEYEKA QNPAYFEGKP
410 420 430 440 450
ASLDEGAMAG ARSHRLERGL PYGGSCGGGI DGGGSSVTTS GEFSNDITEL
460 470 480 490 500
EDSFSKQVKS LAESIDEALN CHPSGPMSEE PGSAQLEKRE SKEQQEDSSA
510 520 530 540 550
TSFSDLPLYL DDTVPQQSPE RLPSTEPPPQ GRPEFWAPAP LPPVPPPVPS
560 570 580 590 600
GTREDGSREE GTRRGPGCLE CRDFRLRAAH LPLLTIEPPS DSSVDLSDRS
610 620 630 640 650
DRGSVHRQLV YEADGCSPHG TLKHKGPPGR APIPHRHYPA PEGPAPAPPG
660 670 680 690 700
PLPPAPNSGT GPSGVAGGRR LGKCEAAGEN SDGGDNESLE SSSNSNETIN
710 720 730 740 750
CSSGSSSRDS LREPPATGLC KQTYQRETRH SWDSPAFNND VVQRRHYRIG
760 770 780 790 800
LNLFNKKPEK GIQYLIERGF LSDTPVGVAH FILERKGLSR QMIGEFLGNR
810 820 830 840 850
QKQFNRDVLD CVVDEMDFSS MDLDDALRKF QSHIRVQGEA QKVERLIEAF
860 870 880 890 900
SQRYCVCNPA LVRQFRNPDT IFILAFAIIL LNTDMYSPSV KAERKMKLDD
910 920 930 940 950
FIKNLRGVDN GEDIPRDLLV GIYQRIQGRE LRTNDDHVSQ VQAVERMIVG
960 970 980 990 1000
KKPVLSLPHR RLVCCCQLYE VPDPNRPQRL GLHQREVFLF NDLLVVTKIF
1010 1020 1030 1040 1050
QKKKILVTYS FRQSFPLVEM HMQLFQNSYY QFGIKLLSAV PGGERKVLII
1060 1070 1080 1090 1100
FNAPSLQDRL RFTSDLRESI AEVQEMEKYR VESELEKQKG MMRPNASQPG
1110 1120 1130 1140 1150
GAKDSVNGTM ARSSLEDTYG AGDGLKRGAL SSSLRDLSDA GKRGRRNSVG
1160 1170 1180 1190 1200
SLDSTIEGSV ISSPRPHQRM PPPPPPPPPE EYKSQRPVSN SSSFLGSLFG
1210 1220 1230 1240 1250
SKRGKGPFQM PPPPTGQASA SSSSASSTHH HHHHHHHGHS HGGLGVLPDG
1260 1270 1280 1290 1300
QSKLQALHAQ YCQGPGPAPP PYLPPQQPSL PPPPQQPPPL PQLGSIPPPP
1310 1320 1330 1340 1350
ASAPPVGPHR HFHAHGPVPG PQHYTLGRPG RAPRRGAGGH PQFAPHGRHP
1360 1370 1380 1390 1400
LHQPTSPLPL YSPAPQHPPA HKQGPKHFIF SHHPQMMPAA GAAGGPGSRP
1410 1420 1430 1440 1450
PGGSYSHPHH PQSPLSPHSP IPPHPSYPPL PPPSPHTPHS PLPPTSPHGP
1460 1470
LHASGPPGTA NPPSANPKAK PSRISTVV
Length:1,478
Mass (Da):161,736
Last modified:February 15, 2005 - v1
Checksum:iFFC6A78D4ED6901B
GO
Isoform 2 (identifier: Q5JU85-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-236: N → KSDGENSRTVS

Show »
Length:1,488
Mass (Da):162,784
Checksum:i52F8B7BE28A175F3
GO
Isoform 3 (identifier: Q5JU85-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-236: MEAGSGPPGG...TSPATTLQRN → MEPPGRSSRS...TPSGRLAESS
     1142-1144: KRG → VCY
     1145-1478: Missing.

Show »
Length:949
Mass (Da):105,100
Checksum:iD7AAC5A20721037A
GO

Sequence cautioni

Isoform 2 : The sequence BAA25448 differs from that shown. Reason: Frameshift at position 1458.Curated
Isoform 2 : The sequence BAA25448 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti679E → K in BAG53009 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063742349R → C in MRX1. 1 Publication1
Natural variantiVAR_063743748R → Q in MRX1. 1 Publication1
Natural variantiVAR_063744791Q → P in MRX1. 1 Publication1
Natural variantiVAR_063745853R → W in MRX1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0413721 – 236MEAGS…TLQRN → MEPPGRSSRSTASHTLHQYC CPTQVLDSMKLTPSGRLAES S in isoform 3. 2 PublicationsAdd BLAST236
Alternative sequenceiVSP_019760236N → KSDGENSRTVS in isoform 2. 1 Publication1
Alternative sequenceiVSP_0413731142 – 1144KRG → VCY in isoform 3. 2 Publications3
Alternative sequenceiVSP_0413741145 – 1478Missing in isoform 3. 2 PublicationsAdd BLAST334

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011094 mRNA. Translation: BAA25448.1. Sequence problems.
AK095232 mRNA. Translation: BAG53009.1.
AL139396, AL161779 Genomic DNA. Translation: CAI39832.1.
AL161779, AL139396 Genomic DNA. Translation: CAI42091.1.
AL139396 Genomic DNA. Translation: CAI39839.1.
FJ154891 mRNA. Translation: ACR15956.1.
CCDSiCCDS35298.1. [Q5JU85-3]
CCDS48130.1. [Q5JU85-2]
PIRiT00080.
RefSeqiNP_001104595.1. NM_001111125.2. [Q5JU85-2]
NP_055890.1. NM_015075.1. [Q5JU85-3]
XP_016884848.1. XM_017029359.1. [Q5JU85-1]
UniGeneiHs.496138.

Genome annotation databases

EnsembliENST00000375365; ENSP00000364514; ENSG00000124313. [Q5JU85-3]
ENST00000396435; ENSP00000379712; ENSG00000124313. [Q5JU85-2]
GeneIDi23096.
KEGGihsa:23096.
UCSCiuc004dsc.4. human. [Q5JU85-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011094 mRNA. Translation: BAA25448.1. Sequence problems.
AK095232 mRNA. Translation: BAG53009.1.
AL139396, AL161779 Genomic DNA. Translation: CAI39832.1.
AL161779, AL139396 Genomic DNA. Translation: CAI42091.1.
AL139396 Genomic DNA. Translation: CAI39839.1.
FJ154891 mRNA. Translation: ACR15956.1.
CCDSiCCDS35298.1. [Q5JU85-3]
CCDS48130.1. [Q5JU85-2]
PIRiT00080.
RefSeqiNP_001104595.1. NM_001111125.2. [Q5JU85-2]
NP_055890.1. NM_015075.1. [Q5JU85-3]
XP_016884848.1. XM_017029359.1. [Q5JU85-1]
UniGeneiHs.496138.

3D structure databases

ProteinModelPortaliQ5JU85.
SMRiQ5JU85.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116724. 5 interactors.
DIPiDIP-59490N.
IntActiQ5JU85. 2 interactors.
STRINGi9606.ENSP00000379712.

PTM databases

iPTMnetiQ5JU85.
PhosphoSitePlusiQ5JU85.

Polymorphism and mutation databases

BioMutaiIQSEC2.
DMDMi74742276.

Proteomic databases

MaxQBiQ5JU85.
PaxDbiQ5JU85.
PeptideAtlasiQ5JU85.
PRIDEiQ5JU85.

Protocols and materials databases

DNASUi23096.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375365; ENSP00000364514; ENSG00000124313. [Q5JU85-3]
ENST00000396435; ENSP00000379712; ENSG00000124313. [Q5JU85-2]
GeneIDi23096.
KEGGihsa:23096.
UCSCiuc004dsc.4. human. [Q5JU85-1]

Organism-specific databases

CTDi23096.
DisGeNETi23096.
GeneCardsiIQSEC2.
HGNCiHGNC:29059. IQSEC2.
HPAiHPA003973.
MalaCardsiIQSEC2.
MIMi300522. gene.
309530. phenotype.
neXtProtiNX_Q5JU85.
OpenTargetsiENSG00000124313.
Orphaneti397933. Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA134870898.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0931. Eukaryota.
COG5307. LUCA.
GeneTreeiENSGT00760000119036.
HOGENOMiHOG000113099.
HOVERGENiHBG056324.
InParanoidiQ5JU85.
KOiK12495.
OMAiDGAYQNR.
OrthoDBiEOG091G05PW.
PhylomeDBiQ5JU85.
TreeFamiTF323811.

Miscellaneous databases

GeneWikiiIQSEC2.
GenomeRNAii23096.
PROiQ5JU85.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124313.
CleanExiHS_IQSEC2.
GenevisibleiQ5JU85. HS.

Family and domain databases

CDDicd13318. PH_IQSEC. 1 hit.
Gene3Di1.10.1000.11. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR033742. IQSEC_PH.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR023394. Sec7_alpha_orthog.
IPR000904. Sec7_dom.
[Graphical view]
PfamiPF16453. IQ_SEC7_PH. 1 hit.
PF01369. Sec7. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00222. Sec7. 1 hit.
[Graphical view]
SUPFAMiSSF48425. SSF48425. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS50190. SEC7. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIQEC2_HUMAN
AccessioniPrimary (citable) accession number: Q5JU85
Secondary accession number(s): B3KT97
, C7SDG1, O60275, Q5JUX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: February 15, 2005
Last modified: November 30, 2016
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.