Aliases for AGBL2 Gene
Aliases for AGBL2 Gene
External Ids for AGBL2 Gene
- HGNC: 26296
- Entrez Gene: 79841
- Ensembl: ENSG00000165923
- OMIM: 617345
- UniProtKB: Q5U5Z8
Previous GeneCards Identifiers for AGBL2 Gene
- GC11M047638
- GC11M047681
- GC11M047387
- GC11M047856
- GC11M047960
- GC11M050807
- GC11M051602
- GC11M052264
- GC11M052924
- GC11M053592
- GC11M054258
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 Palindromic Rheumatism and Bone Inflammation Disease. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is AGBL3.
UniProtKB/Swiss-Prot 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.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGBL2 Gene
Genomics for AGBL2 Gene
GeneHancer (GH) Regulatory Elements for AGBL2 Gene
Promoters and enhancers for AGBL2 Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AGBL2 gene promoter:
-
- Cart-1
- Tal-1
- E47
- LCR-F1
- C/EBPalpha
- POU3F1
- AML1a
- Cdc5
- TBP
Regulatory Element Products
Genomic Locations for AGBL2 Gene
Genomic Locations for AGBL2 Gene
- chr11:47,659,169-47,715,389
- (GRCh38/hg38)
- Size:
- 56,221 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:
-
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
- 11p11.2 by Ensembl
AGBL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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; Positions=797; Note=Translated as Lys.; Evidence={ECO:0000305}; Sequence=BAD96891.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96896.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for AGBL2 Gene
Post-translational modifications for AGBL2 Gene
Other Protein References for AGBL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for AGBL2
- Invitrogen Antibodies for AGBL2 (AFLGC-AGBL2)
- GeneTex AGBL2 Antibody for AGBL2
Protein Products
-
OriGene Purified Proteins for AGBL2
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- Search GeneTex for Proteins for AGBL2
-
Abcam proteins for AGBL2
Assay Products
No data available for DME Specific Peptides for AGBL2 Gene
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:
Graphical View of Domain Structure for InterPro Entry
Q5U5Z8- Family:
-
- Belongs to the peptidase M14 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004181 | metallocarboxypeptidase activity | ISS,IEA | -- |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008237 | metallopeptidase activity | IEA | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for AGBL2 Gene
- MGI mutant phenotypes for AGBL2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AGBL2:
Animal Model Products
-
Taconic Biosciences Mouse Models for AGBL2
- Cyagen custom Knockout/knockin (KOKI) mouse models for AGBL2
-
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for AGBL2 Gene
- miRTarBase miRNAs that target AGBL2
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for AGBL2
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- Applied Biological Materials Clones for AGBL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005814 | centriole | IDA,IEA | 23085998 |
| GO:0005829 | cytosol | ISS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0036064 | ciliary basal body | IDA | 23085998 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGBL2 Gene
Pathways & Interactions for AGBL2 Gene
No Data Available
Interacting Proteins for AGBL2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0035610 | protein side chain deglutamylation | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for AGBL2 Gene
Transcripts for AGBL2 Gene
mRNA/cDNA for AGBL2 Gene
- (19) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (25) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000528609 1798 bps (uc058bhb.1)
- ENST00000525123 3577 bps (uc001ngg.4)
- ENST00000528244 2929 bps (uc058bhd.1)
- ENST00000529712 2617 bps (uc001ngh.2)
- ENST00000532595 1288 bps (uc058bhe.1)
Unigene Clusters for AGBL2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for AGBL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGBL2
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- Applied Biological Materials CRISPR for AGBL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGBL2
- GenScript: Design CRISPR guide RNA sequences for AGBL2
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for AGBL2
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- genomics-online: cdna clones - Search results for available AGBL2 gene related products
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- Applied Biological Materials Clones for AGBL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for AGBL2 Gene
mRNA differential expression in normal tissues according to GTEx for AGBL2 Gene
This gene is overexpressed in Testis (x15.4).
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
NURSA nuclear receptor signaling pathways regulating expression of AGBL2 Gene:
AGBL2SOURCE GeneReport for Unigene cluster for AGBL2 Gene:
Hs.147377Evidence on tissue expression from TISSUES for AGBL2 Gene
- Lung(4.3)
- Blood(2)
Primer Products
-
OriGene qPCR primer pairs for AGBL2
- genomics-online: primer clones - Search results for available AGBL2 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AGBL2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AGBL2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Agbl2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Agbl2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | AGBL2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | AGBL2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AGBL2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AGBL2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | agbl2 33 |
|
||
| Str.18052 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | agbl2 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | NnaD 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for AGBL2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
(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
Variants for AGBL2 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs764666741 | likely-pathogenic, Abnormality of brain morphology | 47,685,934(-) | G/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained | |
| rs1000053744 | -- | 47,661,356(-) | A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant | |
| rs1000089109 | -- | 47,702,685(-) | C/T | intron_variant | |
| rs1000116708 | -- | 47,694,329(-) | G/T | intron_variant | |
| rs1000183748 | -- | 47,681,807(-) | A/C | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGBL2 Gene
Disorders for AGBL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| palindromic rheumatism |
|
|
| bone inflammation disease |
|
|
Search AGBL2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AGBL2
No data available for UniProtKB/Swiss-Prot and Genatlas for AGBL2 Gene
Publications for AGBL2 Gene
- 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 58
- 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 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
- 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 58
Products for AGBL2 Gene
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- genomics-online: cdna clones - Search results for available AGBL2 gene related products
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Sources for AGBL2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
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