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Aliases for AVL9 Gene

Aliases for AVL9 Gene

  • AVL9 Cell Migration Associated 2 3 5
  • KIAA0241 2 3 4
  • AVL9 Homolog (S. Cerevisiase) 2 3
  • Late Secretory Pathway Protein AVL9 Homolog 3

External Ids for AVL9 Gene

Previous HGNC Symbols for AVL9 Gene

  • KIAA0241

Previous GeneCards Identifiers for AVL9 Gene

  • GC07P032502
  • GC07P032535
  • GC07P032412

Summaries for AVL9 Gene

GeneCards Summary for AVL9 Gene

AVL9 (AVL9 Cell Migration Associated) is a Protein Coding gene.

UniProtKB/Swiss-Prot for AVL9 Gene

  • Functions in cell migration.

Additional gene information for AVL9 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVL9 Gene

Genomics for AVL9 Gene

GeneHancer (GH) Regulatory Elements for AVL9 Gene

Promoters and enhancers for AVL9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J032494 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.2 +0.5 517 3.2 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B AVL9 LSM5 BBS9 ZNRF2P1 LOC100130673 ENSG00000273014 DPY19L1P2 GC07P032460 PIR53283
GH07J033060 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.2 +567.0 566995 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF143 NT5C3A PIR46017 FKBP9 AVL9 RN7SL505P
GH07J032505 Enhancer 1.1 Ensembl ENCODE 0.4 +11.6 11577 2.6 PKNOX1 SMAD1 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 FOS ATF7 LOC100130673 DPY19L1P1 RP9 RP9P SLC25A5P5 AVL9 GC07P032460 PIR53283
GH07J032500 Enhancer 0.9 Ensembl ENCODE 0.4 +6.5 6494 2.7 MEIS2 SOX13 PKNOX1 JUN YBX1 BATF RFX5 FOSL1 FOSL2 FOS DPY19L1P1 LOC100130673 ZNRF2P1 AVL9 GC07P032460 PIR53283
GH07J032515 Enhancer 1 Ensembl ENCODE 0.3 +21.1 21129 2.9 ELF3 FOXA2 STAT5A BATF RARA ATF7 ETV6 IKZF2 RUNX3 JUNB LOC100130673 RP9 AVL9 PIR53283 GC07P032460
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AVL9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AVL9 gene promoter:

Genomic Locations for AVL9 Gene

Genomic Locations for AVL9 Gene
chr7:32,495,426-32,588,741
(GRCh38/hg38)
Size:
93,316 bases
Orientation:
Plus strand
chr7:32,535,038-33,078,516
(GRCh37/hg19)

Genomic View for AVL9 Gene

Genes around AVL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AVL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AVL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AVL9 Gene

Proteins for AVL9 Gene

  • Protein details for AVL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBF6-AVL9_HUMAN
    Recommended name:
    Late secretory pathway protein AVL9 homolog
    Protein Accession:
    Q8NBF6
    Secondary Accessions:
    • Q92573

    Protein attributes for AVL9 Gene

    Size:
    648 amino acids
    Molecular mass:
    71947 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AVL9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AVL9 Gene

Post-translational modifications for AVL9 Gene

  • Ubiquitination at Lys465
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AVL9 Gene

Domains & Families for AVL9 Gene

Gene Families for AVL9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for AVL9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AVL9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBF6

UniProtKB/Swiss-Prot:

AVL9_HUMAN :
  • Belongs to the AVL9 family.
Family:
  • Belongs to the AVL9 family.
genes like me logo Genes that share domains with AVL9: view

Function for AVL9 Gene

Molecular function for AVL9 Gene

UniProtKB/Swiss-Prot Function:
Functions in cell migration.

Phenotypes From GWAS Catalog for AVL9 Gene

genes like me logo Genes that share phenotypes with AVL9: view

Animal Model Products

miRNA for AVL9 Gene

miRTarBase miRNAs that target AVL9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AVL9 Gene

Localization for AVL9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVL9 Gene

Recycling endosome. Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AVL9 gene
Compartment Confidence
endosome 5
nucleus 3
cytosol 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AVL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0055037 recycling endosome IEA,IDA 22595670
genes like me logo Genes that share ontologies with AVL9: view

Pathways & Interactions for AVL9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AVL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016477 cell migration IDA 22595670
GO:0051179 localization IBA --
genes like me logo Genes that share ontologies with AVL9: view

No data available for Pathways by source and SIGNOR curated interactions for AVL9 Gene

Drugs & Compounds for AVL9 Gene

No Compound Related Data Available

Transcripts for AVL9 Gene

mRNA/cDNA for AVL9 Gene

Unigene Clusters for AVL9 Gene

AVL9 homolog (S. cerevisiase):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AVL9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2: - - -
SP3:

Relevant External Links for AVL9 Gene

GeneLoc Exon Structure for
AVL9
ECgene alternative splicing isoforms for
AVL9

Expression for AVL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AVL9 Gene

Protein differential expression in normal tissues from HIPED for AVL9 Gene

This gene is overexpressed in Brain (16.7), Frontal cortex (9.0), and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AVL9 Gene



Protein tissue co-expression partners for AVL9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AVL9 Gene:

AVL9

SOURCE GeneReport for Unigene cluster for AVL9 Gene:

Hs.128056

Evidence on tissue expression from TISSUES for AVL9 Gene

  • Bone marrow(4.1)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with AVL9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AVL9 Gene

Orthologs for AVL9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AVL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AVL9 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AVL9 34 33
  • 91.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AVL9 34 33
  • 90.45 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AVL9 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Avl9 33
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Avl9 16 34 33
  • 89.35 (n)
oppossum
(Monodelphis domestica)
Mammalia AVL9 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves AVL9 34 33
  • 76.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AVL9 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia avl9 33
  • 71.98 (n)
Str.18105 33
zebrafish
(Danio rerio)
Actinopterygii avl9 34 33
  • 65.37 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000251 33
  • 51.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11178 34 33
  • 47.23 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T26A5.6 34 33
  • 52.4 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVL9 36 34
  • 21 (a)
Species where no ortholog for AVL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for AVL9 Gene

ENSEMBL:
Gene Tree for AVL9 (if available)
TreeFam:
Gene Tree for AVL9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AVL9: view image

Paralogs for AVL9 Gene

No data available for Paralogs for AVL9 Gene

Variants for AVL9 Gene

Sequence variations from dbSNP and Humsavar for AVL9 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000035971 -- 32,534,793(+) T/A/C intron_variant
rs1000046709 -- 32,495,555(+) G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1000063447 -- 32,533,450(+) C/T intron_variant
rs1000096791 -- 32,538,064(+) T/G intron_variant
rs1000102760 -- 32,536,089(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AVL9 Gene

Variant ID Type Subtype PubMed ID
dgv11270n54 CNV loss 21841781
esv2676855 CNV deletion 23128226
esv29644 CNV gain 19812545
esv3153 CNV loss 18987735
esv3327615 CNV insertion 20981092
esv3430958 CNV insertion 20981092
esv3446438 CNV insertion 20981092
esv3541439 CNV deletion 23714750
esv3612740 CNV loss 21293372
esv996889 CNV insertion 20482838
nsv1068321 OTHER inversion 25765185
nsv1117458 CNV tandem duplication 24896259
nsv1126093 CNV deletion 24896259
nsv1132045 CNV deletion 24896259
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv820638 CNV deletion 20802225

Variation tolerance for AVL9 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AVL9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AVL9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVL9 Gene

Disorders for AVL9 Gene

Additional Disease Information for AVL9

No disorders were found for AVL9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AVL9 Gene

Publications for AVL9 Gene

  1. Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells. (PMID: 22595670) Linford A … Barr FA (Developmental cell 2012) 2 3 4 58
  2. Avl9p, a member of a novel protein superfamily, functions in the late secretory pathway. (PMID: 17229886) Harsay E … Schekman R (Molecular biology of the cell 2007) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for AVL9 Gene

Sources for AVL9 Gene

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