Aliases for AGBL2 Gene

Aliases for AGBL2 Gene

  • ATP/GTP Binding Protein Like 2 2 3 5
  • CCP2 2 3 4
  • Cytoplasmic Carboxypeptidase 2 2 3
  • Cytosolic Carboxypeptidase 2 3 4
  • Testis Tissue Sperm-Binding Protein Li 96mP 3
  • ATP/GTP-Binding Protein-Like 2 4
  • EC 3.4.17.- 4
  • EC 3.4.17 51
  • FLJ23598 2
  • AGBL2 5

External Ids for AGBL2 Gene

Previous GeneCards Identifiers for AGBL2 Gene

  • GC11M047638
  • GC11M047681
  • GC11M047387
  • GC11M047856
  • GC11M047960
  • GC11M055823
  • GC11M056048
  • GC11M056194
  • GC11M059715
  • GC11M050807
  • GC11M051602
  • GC11M052264
  • GC11M052924
  • GC11M053592
  • GC11M054258
  • GC11M054924
  • GC11M055626

Summaries for AGBL2 Gene

GeneCards Summary for AGBL2 Gene

AGBL2 (ATP/GTP Binding Protein Like 2) is a Protein Coding gene. Diseases associated with AGBL2 include Cataract 31, Multiple Types and Cardiofaciocutaneous Syndrome 2. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is AGBL3.

UniProtKB/Swiss-Prot Summary for AGBL2 Gene

  • Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin.

Additional gene information for AGBL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGBL2 Gene

Genomics for AGBL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGBL2 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
GH11J047715 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 259 1.7 GATAD2A RFX1 NFKBIZ POLR2A BACH1 LARP7 GABPA ZNF143 RBFOX2 RXRB AGBL2 lnc-FNBP4-2 C1QTNF4 FNBP4 PTPRJ MADD piR-41306-043 MTCH2
GH11J047714 Enhancer 0.2 ENCODE 600.7 +1.2 1205 0 AGBL2 lnc-FNBP4-2 piR-41306-043 MTCH2
GH11J047517 Enhancer 1 ENCODE dbSUPER 20.6 +196.7 196742 1.5 ZNF629 JUND MTA2 POLR2A MTA1 ZNF501 HDAC1 ZNF140 ZNF184 KLF7 NUP160 ENSG00000200090 FNBP4 C1QTNF4 ENSG00000270060 DDB2 ZNF408 AGBL2 AMBRA1 ARHGAP1
GH11J047506 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +206.6 206577 4.9 ZNF629 RFX1 IKZF1 ZSCAN4 IKZF2 TRIM22 ZNF600 EED ARID3A RELB C1QTNF4 CELF1 NDUFS3 PTPMT1 FAM180B KBTBD4 RNU5E-10P ENSG00000231880 MTCH2 FNBP4
GH11J047465 Enhancer 1.5 UCNEbase Ensembl ENCODE dbSUPER 9.4 +248.2 248217 5.7 ZNF629 PRDM1 ZIC2 PATZ1 NR2C1 SP1 POLR2A ZNF600 YY1 ZNF341 C1QTNF4 MYBPC3 SLC39A13 NDUFS3 RNU5E-10P ENSG00000231880 MTCH2 AGBL2 PACSIN3 lnc-RAPSN-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGBL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGBL2

Top Transcription factor binding sites by QIAGEN in the AGBL2 gene promoter:
  • AML1a
  • C/EBPalpha
  • Cart-1
  • Cdc5
  • E47
  • LCR-F1
  • POU3F1
  • Tal-1
  • TBP

Genomic Locations for AGBL2 Gene

Genomic Locations for AGBL2 Gene
chr11:47,659,168-47,715,389
(GRCh38/hg38)
Size:
56,222 bases
Orientation:
Minus strand
chr11:47,681,143-47,736,941
(GRCh37/hg19)
Size:
55,799 bases
Orientation:
Minus strand

Genomic View for AGBL2 Gene

Genes around AGBL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGBL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGBL2 Gene

Proteins for AGBL2 Gene

  • Protein details for AGBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5U5Z8-CBPC2_HUMAN
    Recommended name:
    Cytosolic carboxypeptidase 2
    Protein Accession:
    Q5U5Z8
    Secondary Accessions:
    • A8MPX2
    • Q53FV5
    • Q8IV57
    • Q9H5C0

    Protein attributes for AGBL2 Gene

    Size:
    902 amino acids
    Molecular mass:
    104194 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15707.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAD96891.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96896.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGBL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGBL2 Gene

Selected DME Specific Peptides for AGBL2 Gene

Q5U5Z8:
  • ARVHPGE
  • DAQLLRD
  • KEGTGRVVMW
  • PMLNPDGV
  • CDFHGHS

Post-translational modifications for AGBL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AGBL2 Gene

Gene Families for AGBL2 Gene

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

Protein Domains for AGBL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AGBL2 Gene

GenScript: Design optimal peptide antigens:
  • ATP/GTP-binding protein-like 2 (CBPC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5U5Z8

UniProtKB/Swiss-Prot:

CBPC2_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with AGBL2: view

Function for AGBL2 Gene

Molecular function for AGBL2 Gene

UniProtKB/Swiss-Prot Function:
Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by RARRES1.

Enzyme Numbers (IUBMB) for AGBL2 Gene

Phenotypes From GWAS Catalog for AGBL2 Gene

Gene Ontology (GO) - Molecular Function for AGBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0004181 metallocarboxypeptidase activity IEA,ISS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with AGBL2: view
genes like me logo Genes that share phenotypes with AGBL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AGBL2

CRISPR Products

miRNA for AGBL2 Gene

miRTarBase miRNAs that target AGBL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGBL2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AGBL2 Gene

Localization for AGBL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGBL2 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Colocalizes with gamma-tubulin in the centrioles and with glutamylated tubulin in the basal bodies of ciliated cells. {ECO:0000269 PubMed:23085998}.

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 AGBL2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
extracellular 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AGBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IEA,IDA 23085998
GO:0005829 cytosol ISS --
GO:0005856 cytoskeleton IEA --
GO:0036064 ciliary basal body IDA 23085998
genes like me logo Genes that share ontologies with AGBL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGBL2 Gene

Pathways & Interactions for AGBL2 Gene

PathCards logo

SuperPathways for AGBL2 Gene

No Data Available

Interacting Proteins for AGBL2 Gene

Gene Ontology (GO) - Biological Process for AGBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0035610 protein side chain deglutamylation ISS --
genes like me logo Genes that share ontologies with AGBL2: view

No data available for Pathways by source and SIGNOR curated interactions for AGBL2 Gene

Drugs & Compounds for AGBL2 Gene

No Compound Related Data Available

Transcripts for AGBL2 Gene

mRNA/cDNA for AGBL2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGBL2

Alternative Splicing Database (ASD) splice patterns (SP) for AGBL2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - -
SP2: - - - - - -
SP3: -
SP4: - - - - - -
SP5: - - - -
SP6: -
SP7: - - -
SP8: - -
SP9: - -

ExUns: 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for AGBL2 Gene

GeneLoc Exon Structure for
AGBL2

Expression for AGBL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGBL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for AGBL2 Gene

This gene is overexpressed in Testis (x15.4).

Protein differential expression in normal tissues from HIPED for AGBL2 Gene

This gene is overexpressed in Liver, secretome (45.7) and Tlymphocyte (22.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGBL2 Gene



Protein tissue co-expression partners for AGBL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGBL2

SOURCE GeneReport for Unigene cluster for AGBL2 Gene:

Hs.147377

Evidence on tissue expression from TISSUES for AGBL2 Gene

  • Lung(4.3)
  • Blood(2.5)
  • Skin(2.4)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with AGBL2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGBL2 Gene

Orthologs for AGBL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGBL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AGBL2 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AGBL2 30 31
  • 88.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Agbl2 30 17 31
  • 83.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Agbl2 30
  • 82.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AGBL2 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AGBL2 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AGBL2 30 31
  • 63.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AGBL2 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia agbl2 30
  • 63.4 (n)
Str.18052 30
Zebrafish
(Danio rerio)
Actinopterygii agbl2 30 31
  • 62.28 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta NnaD 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToMany
Species where no ortholog for AGBL2 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for AGBL2 Gene

ENSEMBL:
Gene Tree for AGBL2 (if available)
TreeFam:
Gene Tree for AGBL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGBL2: view image

Paralogs for AGBL2 Gene

Paralogs for AGBL2 Gene

(2) SIMAP similar genes for AGBL2 Gene using alignment to 9 proteins:

  • CBPC2_HUMAN
  • E9PI49_HUMAN
  • E9PJH3_HUMAN
  • E9PR59_HUMAN
  • E9PRJ1_HUMAN
  • E9PS54_HUMAN
  • F6U0I4_HUMAN
  • H9KV53_HUMAN
  • J9JIH1_HUMAN
genes like me logo Genes that share paralogs with AGBL2: view

Variants for AGBL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGBL2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
712078 Likely Benign: not provided 47,704,575(-) C/T MISSENSE_VARIANT
734159 Likely Benign: not provided 47,660,210(-) G/A MISSENSE_VARIANT
734243 Likely Benign: not provided 47,710,411(-) C/G MISSENSE_VARIANT
737984 Likely Benign: not provided 47,677,261(-) T/C INTRON_VARIANT
761860 Benign: not provided 47,690,227(-) CA/C FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for AGBL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AGBL2 Gene

Variant ID Type Subtype PubMed ID
dgv1111n100 CNV gain 25217958
esv3407993 CNV insertion 20981092
nsv315 CNV insertion 18451855
nsv469858 CNV gain 16826518
nsv481132 CNV novel sequence insertion 20440878
nsv509405 CNV insertion 20534489
nsv832142 CNV loss 17160897
nsv832143 CNV loss 17160897

Variation tolerance for AGBL2 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.87; 58.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGBL2 Gene

Human Gene Mutation Database (HGMD)
AGBL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGBL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGBL2 Gene

Disorders for AGBL2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AGBL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cataract 31, multiple types
  • ctrct31
cardiofaciocutaneous syndrome 2
  • cfc2
crest syndrome
  • scleroderma, familial progressive
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
joubert syndrome 3
  • jbts3
- elite association - COSMIC cancer census association via MalaCards
Search AGBL2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AGBL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGBL2 Gene

Publications for AGBL2 Gene

  1. Tumor suppressor RARRES1 interacts with cytoplasmic carboxypeptidase AGBL2 to regulate the α-tubulin tyrosination cycle. (PMID: 21303978) Sahab ZJ … Byers SW (Cancer research 2011) 2 3 4
  2. Functional segregation and emerging role of cilia-related cytosolic carboxypeptidases (CCPs). (PMID: 23085998) Rodríguez de la Vega Otazo M … Bautista JM (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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 4
  5. Identification of candidate liver tumor suppressor genes from human 11p11.2 by transcription mapping of microcell hybrid cell lines. (PMID: 12738998) Jahn JE … Coleman WB (International journal of oncology 2003) 2 3

Products for AGBL2 Gene

  • Signalway Proteins for AGBL2

Sources for AGBL2 Gene