AGBL2 (AGBL carboxypeptidase 2)

Gene

• Entrez ID: 79841
• Gene name: AGBL carboxypeptidase 2
• Gene symbol: AGBL2
• Synonyms (NCBI Gene): CCP2
• Chromosome: 11
• Chromosome location: 11p11.2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs764666741	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017461	hsa-miR-335-5p	Microarray	18185580
MIRT021583	hsa-miR-142-3p	Microarray	17612493
MIRT047542	hsa-miR-10a-5p	CLASH	23622248
MIRT1927738	hsa-miR-140-3p	CLIP-seq
MIRT1927739	hsa-miR-144	CLIP-seq
MIRT2168532	hsa-let-7a	CLIP-seq
MIRT2168533	hsa-let-7b	CLIP-seq
MIRT2168534	hsa-let-7c	CLIP-seq
MIRT2168535	hsa-let-7d	CLIP-seq
MIRT2168536	hsa-let-7e	CLIP-seq
MIRT2168537	hsa-let-7f	CLIP-seq
MIRT2168538	hsa-let-7g	CLIP-seq
MIRT2168539	hsa-let-7i	CLIP-seq
MIRT2168540	hsa-miR-202	CLIP-seq
MIRT2168541	hsa-miR-3155	CLIP-seq
MIRT2168542	hsa-miR-3155b	CLIP-seq
MIRT2168543	hsa-miR-3163	CLIP-seq
MIRT2168544	hsa-miR-3688-5p	CLIP-seq
MIRT2168545	hsa-miR-3941	CLIP-seq
MIRT2168546	hsa-miR-4282	CLIP-seq
MIRT2168547	hsa-miR-4284	CLIP-seq
MIRT2168548	hsa-miR-4458	CLIP-seq
MIRT2168549	hsa-miR-4500	CLIP-seq
MIRT2168550	hsa-miR-4643	CLIP-seq
MIRT2168551	hsa-miR-4659a-5p	CLIP-seq
MIRT2168552	hsa-miR-4659b-5p	CLIP-seq
MIRT2168553	hsa-miR-466	CLIP-seq
MIRT2168554	hsa-miR-4672	CLIP-seq
MIRT2168555	hsa-miR-4690-3p	CLIP-seq
MIRT2168556	hsa-miR-4769-3p	CLIP-seq
MIRT2168557	hsa-miR-4789-3p	CLIP-seq
MIRT2168558	hsa-miR-4803	CLIP-seq
MIRT2168559	hsa-miR-484	CLIP-seq
MIRT2168560	hsa-miR-548ag	CLIP-seq
MIRT2168561	hsa-miR-548ai	CLIP-seq
MIRT2168562	hsa-miR-644	CLIP-seq
MIRT2168563	hsa-miR-98	CLIP-seq
MIRT2426092	hsa-miR-485-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004181	Function	Metallocarboxypeptidase activity	ISS
GO:0005814	Component	Centriole	IDA	23085998
GO:0005829	Component	Cytosol	ISS
GO:0006508	Process	Proteolysis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0035610	Process	Protein side chain deglutamylation	IBA	21873635
GO:0035610	Process	Protein side chain deglutamylation	ISS
GO:0036064	Component	Ciliary basal body	IDA	23085998

Other IDs

• MIM: 617345
• HGNC: 26296
• e!Ensembl: ENSG00000165923

Protein

• UniProt ID: Q5U5Z8
• Protein name: Cytosolic carboxypeptidase 2 (EC 3.4.17.-) (ATP/GTP-binding protein-like 2) (Protein deglutamylase CCP2)
• Protein function: Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18027	Pepdidase_M14_N	268 → 395	Cytosolic carboxypeptidase N-terminal domain	Domain
  PF00246	Peptidase_M14	413 → 596	Zinc carboxypeptidase	Domain

• Sequence:

  MFPALETHLKQTIPDPYEDFMYRHLQYYGYFKAQRGSLPNSATHQHVRKNNPQCLLNGSL
  GEKDDLIPDTLQKEKLLWPISLSSAVHRQIEAINRDFHSCLGWMQWRGLSSLQPPPPRFK
  DSPASAFRVAGITDSHMLSLPHLRSRQLLYDELDEVNPRLREPQELFSILSTKRPLQAPR
  WPIECEVIKENIHHIEWAPPQPEYFYQPKGNEKVPEIVGEKKGTVVYQLDSVPIEGSYFT
  SSRVGGKRGIVKELAVTLQGPEDNTLLFESRFESGNLQKAVRVDTYEYELTLRTDLYTNK
  HTQWFYFRVQNTRKDATYRFTIVNLLKPKSLYTVGMKPLLYSQLDANTRNIGWRREGNEI
  KYYKNNTDDGQQPFYCLTWTIQFPYDQDTCFFAHFYPYTYTDLQCYLLSVANNPIQSQFC
  KLQTLCRSLAGNTVYLLTITNPSQTPQEAAAKKAVVLSARVHPGESNGSWVMKGFLDFIL
  SNSPDAQLLRDIFVFKVLPMLNPDGVIVGNYRCSLAGRDLNRHYKTILKESFPCIWYTRN
  MIKRLLEEREVLLYCDFHGHSRKNNIFLYGCNNNNRKYWLHERVFPLMLCKNAPDKFSFH
  SCNFKVQKCKEGTGRVVMWRMGILNSYTMESTFGGSTLGNKRDTHFTIEDLKSLGYHVCD
  TLLDFCDPDQMKFTQCLAELKELLRQEIHKKFHELGQDVDLEGSWSDISLSDIESSTSGS
  DSSLSDGLPVHLANIADELTQKKKMFKKKKKKSLQTRKQRNEQYQKKNLMQKLKLTEDTS
  EKAGFASTLQKQPTFFKNSENSSFLPMKNENPRLNETNLNRRDKDTPLDPSMATLILPKN
  KGRMQNKKPGFTVSCSPKRTINSSQEPAPGMKPNWPRSRYPATKRGCAAMAAYPSLHIYT
  YP

• Sequence length: 902

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	24076602

Unknown
Disease term	Disease name	Evidence	References	Source
Epilepsy	epilepsy			GenCC
Neuroticism	Neuroticism			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Hypertension	Hypertension			GWAS
Dementia	Dementia			GWAS
Diabetes	Diabetes			GWAS
Insomnia	Insomnia			GWAS
Heart Failure	Heart Failure			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis	Associate	34093522
Arthritis Rheumatoid	Associate	20196860, 21291540, 31474319, 34093522, 37001434
Carcinogenesis	Associate	21303978
Carcinoma Renal Cell	Associate	32307444
Central Nervous System Vascular Malformations	Associate	26539891
Neoplasm Metastasis	Associate	32307444
Neoplasms	Associate	21303978, 32307444