Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79932
Gene name Gene Name - the full gene name approved by the HGNC.
KIAA0319 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIAA0319L
Synonyms (NCBI Gene) Gene synonyms aliases
AAVR, AAVRL
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018540 hsa-miR-335-5p Microarray 18185580
MIRT022060 hsa-miR-128-3p Microarray 17612493
MIRT042573 hsa-miR-423-3p CLASH 23622248
MIRT615786 hsa-miR-924 HITS-CLIP 23824327
MIRT615784 hsa-miR-4294 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 20697954, 25416956
GO:0005730 Component Nucleolus IDA
GO:0005794 Component Golgi apparatus IDA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613535 30071 ENSG00000142687
Protein
UniProt ID Q8IZA0
Protein name Dyslexia-associated protein KIAA0319-like protein (Adeno-associated virus receptor) (AAVR)
Protein function Possible role in axon guidance through interaction with RTN4R. ; (Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis
PDB 2YRL , 6IHB , 6JCQ , 6JCS , 6NZ0 , 7KPN , 7TI5 , 7WJX , 7WQP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18911 PKD_4 679 770 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in cortical neurons in the brain cortex (at protein level). {ECO:0000269|PubMed:20697954}.
Sequence
MEKRLGVKPNPASWILSGYYWQTSAKWLRSLYLFYTCFCFSVLWLSTDASESRCQQGKTQ
FGVGLRSGGENHLWLLEGTPSLQSCWAACCQDSACHVFWWLEGMCIQADCSRPQSCRAFR
THSSNSMLVFLKKFQTADDLGFLPEDDVPHLLGLGWNWASWRQSPPRAALRPAVSSSDQQ
SLIRKLQKRGSPSDVVTPIVTQHSKVNDSNELGGLTTSGSAEVHKAITISSPLTTDLTAE
LSGGPKNVSVQPEISEGLATTPSTQQVKSSEKTQIAVPQPVAPSYSYATPTPQASFQSTS
APYPVIKELVVSAGESVQITLPKNEVQLNAYVLQEPPKGETYTYDWQLITHPRDYSGEME
GKHSQILKLSKLTPGLYEFKVIVEGQNAHGEGYVNVTVKPEPRKNRPPIAIVSPQFQEIS
LPTTSTVIDGSQSTDDDKIVQYHWEELKGPLREEKISEDTAILKLSKLVPGNYTFSLTVV
DSDGATNSTTANLTVNKAVDYPPVANAGPNQVITLPQNSITLFGNQSTDDHGITSYEWSL
SPSSKGKVVEMQGVRTPTLQLSAMQEGDYTYQLTVTDTIGQQATAQVTVIVQPENNKPPQ
ADAGPDKELTLPVDSTTLDGSKSSDDQKIISYLWEKTQGPDGVQLENANSSVATVTGLQV
GTYVFTLTVKDERNLQSQSSVNVIVKEEINKPPIAKITGNVVITLPTSTAELDGSKSSDD
KGIVSYLWTRDEGSPAAGEVLNHSDHHPILFLSNLVEGTYTFHLKVTDAK
GESDTDRTTV
EVKPDPRKNNLVEIILDINVSQLTERLKGMFIRQIGVLLGVLDSDIIVQKIQPYTEQSTK
MVFFVQNEPPHQIFKGHEVAAMLKSELRKQKADFLIFRALEVNTVTCQLNCSDHGHCDSF
TKRCICDPFWMENFIKVQLRDGDSNCEWSVLYVIIATFVIVVALGILSWTVICCCKRQKG
KPKRKSKYKILDATDQESLELKPTSRAGIKQKGLLLSSSLMHSESELDSDDAIFTWPDRE
KGKLLHGQNGSVPNGQTPLKARSPREEIL
Sequence length 1049
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Pulmonary arterial hypertension Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424
View all (116 more)
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)
Systemic lupus erythematosus Systemic lupus erythematosus rs72556554, rs1575496354, rs1307379746, rs758750492, rs1575497576
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Dyslexia Associate 20697954
Dyslexia Acquired Associate 19085271