Aliases for KAAG1 Gene

Aliases for KAAG1 Gene

  • Kidney Associated Antigen 1 2 3 5
  • RU2AS 2 3 4
  • Kidney-Associated Antigen 1 3 4
  • RU2 Antisense Gene Protein 3 4
  • KAAG1 5
  • RU2 2

External Ids for KAAG1 Gene

Previous GeneCards Identifiers for KAAG1 Gene

  • GC06P024419
  • GC06P024465
  • GC06P024357
  • GC06P024306

Summaries for KAAG1 Gene

GeneCards Summary for KAAG1 Gene

KAAG1 (Kidney Associated Antigen 1) is a Protein Coding gene. Diseases associated with KAAG1 include Sclerosing Cholangitis, Neonatal and Nephronophthisis 19.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KAAG1 Gene

Genomics for KAAG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KAAG1 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
GH06J024354 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.0 977 6.2 ZSCAN16 ZBTB10 MXD4 CEBPA ZFP64 ZNF217 CTCF BHLHE40 ZEB1 ELF1 DCDC2 HSALNG0048604 KAAG1 MRS2 RF00017-5364
GH06J024312 Enhancer 1.2 FANTOM5 Ensembl ENCODE 7.1 -43.3 -43304 2.1 FEZF1 CEBPA FOXA1 ZNF217 HOMEZ CEBPB MBD2 ZNF511 FOXA2 MAFF piR-30188-148 DCDC2 KAAG1 HSALNG0048603 piR-51878-033 NRSN1
GH06J024341 Enhancer 1.3 FANTOM5 Ensembl ENCODE 6.2 -15.4 -15402 1.4 CEBPA FOXA1 ZNF217 HOMEZ KDM6A THAP11 MBD2 ZNF511 FOXA2 SMAD4 DCDC2 KAAG1 MRS2 piR-51878-033 NRSN1
GH06J024321 Enhancer 1.2 FANTOM5 Ensembl ENCODE 5.4 -34.1 -34102 4.8 MXD4 FEZF1 HOMEZ SAP130 ETV4 RARA ZNF843 TEAD3 BCL6 JUND piR-51878-033 DCDC2 RNU6-391P MRS2 KAAG1 HSALNG0048603 NRSN1
GH06J024382 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 0.3 +26.2 26153 2 MXD4 CEBPA HOMEZ FOXA2 ZNF511 SAP130 KMT2B GABPB1 RARA DMAP1 DCDC2 HSALNG0048607 MRS2 KAAG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KAAG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KAAG1

Top Transcription factor binding sites by QIAGEN in the KAAG1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E4BP4
  • FOXI1
  • GATA-1
  • HFH-3

Genomic Locations for KAAG1 Gene

Latest Assembly
chr6:24,356,903-24,358,285
(GRCh38/hg38)
Size:
1,383 bases
Orientation:
Plus strand

Previous Assembly
chr6:24,357,131-24,358,513
(GRCh37/hg19 by Entrez Gene)
Size:
1,383 bases
Orientation:
Plus strand

chr6:24,357,131-24,358,512
(GRCh37/hg19 by Ensembl)
Size:
1,382 bases
Orientation:
Plus strand

Genomic View for KAAG1 Gene

Genes around KAAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KAAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KAAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAAG1 Gene

Proteins for KAAG1 Gene

  • Protein details for KAAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBP8-KAAG1_HUMAN
    Recommended name:
    Kidney-associated antigen 1
    Protein Accession:
    Q9UBP8

    Protein attributes for KAAG1 Gene

    Size:
    84 amino acids
    Molecular mass:
    8969 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KAAG1 Gene

Post-translational modifications for KAAG1 Gene

No Post-translational modifications

Other Protein References for KAAG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KAAG1 Gene

Domains & Families for KAAG1 Gene

Gene Families for KAAG1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KAAG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KAAG1 Gene

GenScript: Design optimal peptide antigens:
  • RU2 antisense gene protein (KAAG1_HUMAN)
genes like me logo Genes that share domains with KAAG1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KAAG1 Gene

Function for KAAG1 Gene

Phenotypes From GWAS Catalog for KAAG1 Gene

genes like me logo Genes that share phenotypes with KAAG1: view

miRNA for KAAG1 Gene

miRTarBase miRNAs that target KAAG1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAAG1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KAAG1 Gene

Localization for KAAG1 Gene

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 KAAG1 gene
Compartment Confidence
cytosol 2
mitochondrion 1
nucleus 1
extracellular 0

Gene Ontology (GO) - Cellular Components for KAAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with KAAG1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KAAG1 Gene

Pathways & Interactions for KAAG1 Gene

PathCards logo

SuperPathways for KAAG1 Gene

No Data Available

Interacting Proteins for KAAG1 Gene

Selected Interacting proteins: Q9UBP8-KAAG1_HUMAN for KAAG1 Gene via IID

Symbol External ID(s) Details
RHOU

Gene Ontology (GO) - Biological Process for KAAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 10601354
genes like me logo Genes that share ontologies with KAAG1: view

No data available for Pathways by source and SIGNOR curated interactions for KAAG1 Gene

Drugs & Compounds for KAAG1 Gene

No Compound Related Data Available

Transcripts for KAAG1 Gene

mRNA/cDNA for KAAG1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAAG1

Alternative Splicing Database (ASD) splice patterns (SP) for KAAG1 Gene

No ASD Table

Relevant External Links for KAAG1 Gene

GeneLoc Exon Structure for
KAAG1

Expression for KAAG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KAAG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KAAG1

SOURCE GeneReport for Unigene cluster for KAAG1 Gene:

Hs.697888

mRNA Expression by UniProt/SwissProt for KAAG1 Gene:

Q9UBP8-KAAG1_HUMAN
Tissue specificity: Expressed in testis and kidney, and, at lower levels, in urinary bladder and liver. Expressed by a high proportion of tumors of various histologic origin, including melanomas, sarcomas and colorectal carcinomas.
genes like me logo Genes that share expression patterns with KAAG1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KAAG1 Gene

Orthologs for KAAG1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for KAAG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KAAG1 30 31
  • 100 (n)
OneToOne
Species where no ortholog for KAAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KAAG1 Gene

ENSEMBL:
Gene Tree for KAAG1 (if available)
TreeFam:
Gene Tree for KAAG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KAAG1: view image

Paralogs for KAAG1 Gene

No data available for Paralogs for KAAG1 Gene

Variants for KAAG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KAAG1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
917935 Likely Pathogenic: Nephronophthisis 19 24,357,457(+) CTTGAGTTTCTTGAAG
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
994593 Uncertain Significance: not provided 24,357,634(+) C/T
NM_016356.5(DCDC2):c.117G>A (p.Lys39=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs1042640142 Pathogenic: Sclerosing cholangitis, neonatal 24,357,700(+) C/G
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn)
MISSENSE
rs138670560 Conflicting Interpretations: Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal; not provided 24,357,529(+) G/T
NM_016356.5(DCDC2):c.222C>A (p.Ile74=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs140803474 Likely Benign: not provided 24,357,379(+) G/A
NM_016356.5(DCDC2):c.293+79C>T
FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KAAG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KAAG1 Gene

Variant ID Type Subtype PubMed ID
nsv1026638 CNV gain 25217958

Variation tolerance for KAAG1 Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KAAG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KAAG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAAG1 Gene

Disorders for KAAG1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KAAG1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KAAG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KAAG1

genes like me logo Genes that share disorders with KAAG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KAAG1 Gene

Publications for KAAG1 Gene

  1. A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription. (PMID: 10601354) Van Den Eynde BJ … Boon T (The Journal of experimental medicine 1999) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  3. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. (PMID: 26598620) Dart AE … Wells CM (The Journal of cell biology 2015) 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for KAAG1 Gene

Sources for KAAG1 Gene