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Protein

Protein KIAA2022

Gene

KIAA2022

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in neuronal development.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Neurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein KIAA2022
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:29433. KIAA2022.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 98 (MRX98)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving KIAA2022 is found in patients with severe mental retardation. Pericentric inversion inv(X)(p22.3;q13.2) with P2RY8 leading to inactivation of KIAA2022 (PubMed:15466006).1 Publication
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRX98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.
See also OMIM:300912

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi340533.
MalaCardsiKIAA2022.
MIMi300912. phenotype.
OpenTargetsiENSG00000050030.
Orphaneti85277. X-linked intellectual disability, Cantagrel type.
PharmGKBiPA162393214.

Polymorphism and mutation databases

BioMutaiKIAA2022.
DMDMi74743104.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002578441 – 1516Protein KIAA2022Add BLAST1516

Proteomic databases

PaxDbiQ5QGS0.
PeptideAtlasiQ5QGS0.
PRIDEiQ5QGS0.

PTM databases

iPTMnetiQ5QGS0.
PhosphoSitePlusiQ5QGS0.

Expressioni

Tissue specificityi

Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent.1 Publication

Gene expression databases

BgeeiENSG00000050030.
CleanExiHS_KIAA2022.
ExpressionAtlasiQ5QGS0. baseline and differential.
GenevisibleiQ5QGS0. HS.

Organism-specific databases

HPAiHPA000407.

Interactioni

Protein-protein interaction databases

BioGridi131068. 2 interactors.
MINTiMINT-7034507.
STRINGi9606.ENSP00000055682.

Structurei

3D structure databases

ProteinModelPortaliQ5QGS0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IFSY. Eukaryota.
ENOG410XSAZ. LUCA.
GeneTreeiENSGT00550000074640.
HOGENOMiHOG000113185.
HOVERGENiHBG081844.
InParanoidiQ5QGS0.
OMAiNMKYGEQ.
OrthoDBiEOG091G00LU.
PhylomeDBiQ5QGS0.
TreeFamiTF332248.

Family and domain databases

InterProiIPR032757. DUF4683.
[Graphical view]
PfamiPF15735. DUF4683. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q5QGS0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDNQQDKAIV ASANGENTLI NGVKENDSED QDVAMKSFAA LEAAAPIQPT
60 70 80 90 100
PVAQKETLMY PRGLLPLPSK KPCMQSPPSP LGLIEAPEHA ANSASVNAIS
110 120 130 140 150
LTSGIAKGLN TWSLPNECEK APFAIMEPAG MSALNGDCLM QPSRTCLGCF
160 170 180 190 200
MESKDAVDPE PGISLKVGDL NRDYETCAVS DIGIQCINAG ENMKYGEQLL
210 220 230 240 250
SDQLLGFPLH KSRAGDRRET EKPDIDLEDP AQKSYYEALL LDKCNTEEAL
260 270 280 290 300
LANSNQDWGY FETFISESKI ELLDLCSKNE LSVNLFSEED VDNYMFDDDE
310 320 330 340 350
STLGSDVCSL KIRYESFQDN VRDKTTLLMQ EDAQFNFFPS VFTTCPKRES
360 370 380 390 400
KSGALKQSSD FSQFKVPDVS IIWGEEDKNL DKKKGKEEGQ EDKGVEKKDG
410 420 430 440 450
KDNGEKPALN KPCSGTEVEQ LKNPKQGHLA NSLETSGSFS DDSSFIEISY
460 470 480 490 500
DAMGEIKDCS RYMARDTNSG SSSSQQNYGL RAKRKVRYSE DYLYDVDSLE
510 520 530 540 550
GEKVNERKEW LPVGSKEEDD DEWCPKKRRK VTRKEPPVII KYIIINRFKG
560 570 580 590 600
EKNMLVKLGK VDASETTVNL SENQLNKYAK LAPLKGFWQK KKKQRNTNTD
610 620 630 640 650
SIKTPFSQKQ SFEPGSFEVS FLPPARKRKS KLGNRHRIQR IPSIEISASS
660 670 680 690 700
KQISLCNDQR HASNHKEDGG LKGTLKSAPL GAPSCANGSH LNDITGPDSV
710 720 730 740 750
KVKAQDTEFK GPERKVLNKI KFKSEARLKS KKVKAAGQES KPIVQMSPLL
760 770 780 790 800
ENQSSKANLK NEVIPGTSNS SRLSEFHEAK AAKSSTFLPT TCSSEMPLSS
810 820 830 840 850
ANVTTNIPVI PGGYLQTLLD ASDLSNNTSI SYFSHHSPEQ NEGSLTQTEK
860 870 880 890 900
SFVPLQPTQD CVLTSSSDSE LQQSSHNFKM ESSNYRNVWP NKATSGTQEF
910 920 930 940 950
MAEVSREIAP TQSSEFGASQ VVSMENNLTP TTYNPICLNS GGSNCNKVLY
960 970 980 990 1000
DSMQDTQLPS DDSYQLCHFN NGEICFPFQQ GPVNMDDGRL FSFDSMAPLS
1010 1020 1030 1040 1050
VSSSNYCSLS LKSCEKDGDD DITDDFLAHC SPKLVIQQSI DEIAPLKEST
1060 1070 1080 1090 1100
DLLDISNFTP DKFRHSSLSE MSPPDTPSLS PQITRCESMK TLGTLKGFQE
1110 1120 1130 1140 1150
GVPGPLDSVE KIKWDCSTLS RQVQMEDGFT LNNHQFQFHM FNDEDSVSLL
1160 1170 1180 1190 1200
QKNPCLSTFN DPSGQISTNN KVSKSRKKSS PSKSGAMNQS SSQKNTRKKS
1210 1220 1230 1240 1250
LKGNNKGIEK PPGKNSRQVP KSTKKGKYMA AINGEKMQIG IGRGGSQTNT
1260 1270 1280 1290 1300
ISSTGKTLAE CIQHGGPMAS MKMPSQKGLS GDWALGKESS PGWSDMSMGT
1310 1320 1330 1340 1350
NTNSLLDDDQ REFQEPSYIL SNIASGMADV QRFMMASIEP LWEPMEHHGD
1360 1370 1380 1390 1400
PNIFYSPESN SLKLKTLKIL AGTPQESKKK INSGSQGATK NHRSIKGVSK
1410 1420 1430 1440 1450
SNGKTAIGDP GRANMPGYNE DSRSTFFDKK YSNMSTLGNN GPTHKKLYRH
1460 1470 1480 1490 1500
KSSSKALRDE KCKGKHMERE QVHKDESGTA SFEKLRDSDY NLLKAETTFW
1510
VLPVFEEETR IFQKDI
Length:1,516
Mass (Da):167,551
Last modified:January 4, 2005 - v1
Checksum:i8B7F6575F283F669
GO

Sequence cautioni

The sequence BAC23118 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0495291112I → T.Corresponds to variant rs12851763dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY563507 mRNA. Translation: AAT67985.1.
AB095942 mRNA. Translation: BAC23118.1. Different initiation.
AL139395 Genomic DNA. Translation: CAI39510.1.
AL139395 Genomic DNA. Translation: CAI39511.1.
AL390035 Genomic DNA. No translation available.
BC152557 mRNA. Translation: AAI52558.1.
CCDSiCCDS35337.1.
RefSeqiNP_001008537.1. NM_001008537.2.
UniGeneiHs.124128.

Genome annotation databases

EnsembliENST00000055682; ENSP00000055682; ENSG00000050030.
ENST00000616200; ENSP00000480284; ENSG00000050030.
GeneIDi340533.
KEGGihsa:340533.
UCSCiuc004eby.4. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY563507 mRNA. Translation: AAT67985.1.
AB095942 mRNA. Translation: BAC23118.1. Different initiation.
AL139395 Genomic DNA. Translation: CAI39510.1.
AL139395 Genomic DNA. Translation: CAI39511.1.
AL390035 Genomic DNA. No translation available.
BC152557 mRNA. Translation: AAI52558.1.
CCDSiCCDS35337.1.
RefSeqiNP_001008537.1. NM_001008537.2.
UniGeneiHs.124128.

3D structure databases

ProteinModelPortaliQ5QGS0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131068. 2 interactors.
MINTiMINT-7034507.
STRINGi9606.ENSP00000055682.

PTM databases

iPTMnetiQ5QGS0.
PhosphoSitePlusiQ5QGS0.

Polymorphism and mutation databases

BioMutaiKIAA2022.
DMDMi74743104.

Proteomic databases

PaxDbiQ5QGS0.
PeptideAtlasiQ5QGS0.
PRIDEiQ5QGS0.

Protocols and materials databases

DNASUi340533.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000055682; ENSP00000055682; ENSG00000050030.
ENST00000616200; ENSP00000480284; ENSG00000050030.
GeneIDi340533.
KEGGihsa:340533.
UCSCiuc004eby.4. human.

Organism-specific databases

CTDi340533.
DisGeNETi340533.
GeneCardsiKIAA2022.
HGNCiHGNC:29433. KIAA2022.
HPAiHPA000407.
MalaCardsiKIAA2022.
MIMi300524. gene.
300912. phenotype.
neXtProtiNX_Q5QGS0.
OpenTargetsiENSG00000050030.
Orphaneti85277. X-linked intellectual disability, Cantagrel type.
PharmGKBiPA162393214.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFSY. Eukaryota.
ENOG410XSAZ. LUCA.
GeneTreeiENSGT00550000074640.
HOGENOMiHOG000113185.
HOVERGENiHBG081844.
InParanoidiQ5QGS0.
OMAiNMKYGEQ.
OrthoDBiEOG091G00LU.
PhylomeDBiQ5QGS0.
TreeFamiTF332248.

Miscellaneous databases

GenomeRNAii340533.
PROiQ5QGS0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000050030.
CleanExiHS_KIAA2022.
ExpressionAtlasiQ5QGS0. baseline and differential.
GenevisibleiQ5QGS0. HS.

Family and domain databases

InterProiIPR032757. DUF4683.
[Graphical view]
PfamiPF15735. DUF4683. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiK2022_HUMAN
AccessioniPrimary (citable) accession number: Q5QGS0
Secondary accession number(s): A7YY87, Q5JUX9, Q8IVE9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: January 4, 2005
Last modified: November 2, 2016
This is version 105 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

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.