Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	60509
Gene name	AGBL carboxypeptidase 5
Gene symbol	AGBL5
Synonyms (NCBI Gene)	CCP5RP75
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both

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SNP ID	Visualize variation	Clinical significance	Consequence
rs879253768	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879253769	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1285501658	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

244

Show/Hide all (244)

miRTarBase ID	miRNA	Experiments	Reference
MIRT694514	hsa-miR-501-3p	HITS-CLIP	23313552
MIRT694513	hsa-miR-502-3p	HITS-CLIP	23313552
MIRT694512	hsa-miR-5690	HITS-CLIP	23313552
MIRT694511	hsa-miR-6804-3p	HITS-CLIP	23313552
MIRT694510	hsa-miR-1287-5p	HITS-CLIP	23313552
MIRT694509	hsa-miR-4764-5p	HITS-CLIP	23313552
MIRT694508	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT551347	hsa-miR-500a-3p	HITS-CLIP	23313552
MIRT663837	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT663836	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT663835	hsa-miR-940	HITS-CLIP	23313552
MIRT694507	hsa-miR-3929	HITS-CLIP	23313552
MIRT694506	hsa-miR-4419b	HITS-CLIP	23313552
MIRT694505	hsa-miR-4478	HITS-CLIP	23313552
MIRT663834	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT694504	hsa-miR-4459	HITS-CLIP	23313552
MIRT663828	hsa-miR-665	HITS-CLIP	23313552
MIRT694503	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT694502	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT663833	hsa-miR-1827	HITS-CLIP	23313552
MIRT694501	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT694500	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT663832	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT694499	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT663831	hsa-miR-711	HITS-CLIP	23313552
MIRT694498	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT694497	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT694496	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT694495	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT694494	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT694493	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT663830	hsa-miR-4776-5p	HITS-CLIP	23313552
MIRT663829	hsa-miR-4535	HITS-CLIP	23313552
MIRT694492	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT694491	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT694490	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT694489	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT694488	hsa-miR-3689c	HITS-CLIP	23313552
MIRT694487	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT694486	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT663837	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT663836	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT663835	hsa-miR-940	HITS-CLIP	23824327
MIRT663834	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT663833	hsa-miR-1827	HITS-CLIP	23824327
MIRT663832	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT663831	hsa-miR-711	HITS-CLIP	23824327
MIRT663830	hsa-miR-4776-5p	HITS-CLIP	23824327
MIRT663829	hsa-miR-4535	HITS-CLIP	23824327
MIRT663828	hsa-miR-665	HITS-CLIP	23824327
MIRT551359	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT551358	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT551357	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT551356	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT551355	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT551354	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT551353	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT551352	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT551351	hsa-miR-767-5p	PAR-CLIP	21572407
MIRT551350	hsa-miR-3135a	PAR-CLIP	21572407
MIRT551348	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT551349	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT551347	hsa-miR-500a-3p	PAR-CLIP	21572407
MIRT551346	hsa-miR-7703	PAR-CLIP	21572407
MIRT551345	hsa-miR-4325	PAR-CLIP	21572407
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT458586	hsa-miR-4293	PAR-CLIP	21572407
MIRT458584	hsa-miR-340-3p	PAR-CLIP	21572407
MIRT458583	hsa-miR-6827-3p	PAR-CLIP	21572407
MIRT458582	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT458586	hsa-miR-4293	PAR-CLIP	21572407
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	23446348
MIRT458586	hsa-miR-4293	PAR-CLIP	23446348
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT458584	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT458583	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT458582	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458586	hsa-miR-4293	PAR-CLIP	23592263
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT458584	hsa-miR-340-3p	PAR-CLIP	23592263
MIRT458583	hsa-miR-6827-3p	PAR-CLIP	23592263
MIRT458582	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT694514	hsa-miR-501-3p	HITS-CLIP	23313552
MIRT694513	hsa-miR-502-3p	HITS-CLIP	23313552
MIRT694512	hsa-miR-5690	HITS-CLIP	23313552
MIRT694511	hsa-miR-6804-3p	HITS-CLIP	23313552
MIRT694510	hsa-miR-1287-5p	HITS-CLIP	23313552
MIRT694509	hsa-miR-4764-5p	HITS-CLIP	23313552
MIRT694508	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT551347	hsa-miR-500a-3p	HITS-CLIP	23313552
MIRT663837	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT663836	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT663835	hsa-miR-940	HITS-CLIP	23313552
MIRT694507	hsa-miR-3929	HITS-CLIP	23313552
MIRT694506	hsa-miR-4419b	HITS-CLIP	23313552
MIRT694505	hsa-miR-4478	HITS-CLIP	23313552
MIRT663834	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT694504	hsa-miR-4459	HITS-CLIP	23313552
MIRT663828	hsa-miR-665	HITS-CLIP	23313552
MIRT694503	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT694502	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT663833	hsa-miR-1827	HITS-CLIP	23313552
MIRT694501	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT694500	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT663832	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT694499	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT663831	hsa-miR-711	HITS-CLIP	23313552
MIRT694498	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT694497	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT694496	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT694495	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT694494	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT694493	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT663830	hsa-miR-4776-5p	HITS-CLIP	23313552
MIRT663829	hsa-miR-4535	HITS-CLIP	23313552
MIRT694492	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT694491	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT694490	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT694489	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT694488	hsa-miR-3689c	HITS-CLIP	23313552
MIRT694487	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT694486	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT663837	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT663836	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT663835	hsa-miR-940	HITS-CLIP	23824327
MIRT663834	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT663833	hsa-miR-1827	HITS-CLIP	23824327
MIRT663832	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT663831	hsa-miR-711	HITS-CLIP	23824327
MIRT663830	hsa-miR-4776-5p	HITS-CLIP	23824327
MIRT663829	hsa-miR-4535	HITS-CLIP	23824327
MIRT663828	hsa-miR-665	HITS-CLIP	23824327
MIRT551359	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT551358	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT551357	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT551356	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT551355	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT551354	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT551353	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT551352	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT551351	hsa-miR-767-5p	PAR-CLIP	21572407
MIRT551350	hsa-miR-3135a	PAR-CLIP	21572407
MIRT551348	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT551349	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT551347	hsa-miR-500a-3p	PAR-CLIP	21572407
MIRT551346	hsa-miR-7703	PAR-CLIP	21572407
MIRT551345	hsa-miR-4325	PAR-CLIP	21572407
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT458586	hsa-miR-4293	PAR-CLIP	21572407
MIRT458584	hsa-miR-340-3p	PAR-CLIP	21572407
MIRT458583	hsa-miR-6827-3p	PAR-CLIP	21572407
MIRT458582	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT458586	hsa-miR-4293	PAR-CLIP	21572407
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	23446348
MIRT458586	hsa-miR-4293	PAR-CLIP	23446348
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT458584	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT458583	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT458582	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT458588	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458586	hsa-miR-4293	PAR-CLIP	23592263
MIRT458585	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT458584	hsa-miR-340-3p	PAR-CLIP	23592263
MIRT458583	hsa-miR-6827-3p	PAR-CLIP	23592263
MIRT458582	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT771699	hsa-miR-133a	CLIP-seq
MIRT771700	hsa-miR-133b	CLIP-seq
MIRT771701	hsa-miR-1343	CLIP-seq
MIRT771702	hsa-miR-144	CLIP-seq
MIRT771703	hsa-miR-3129-3p	CLIP-seq
MIRT771704	hsa-miR-4640-5p	CLIP-seq
MIRT771705	hsa-miR-4709-5p	CLIP-seq
MIRT771706	hsa-miR-4726-5p	CLIP-seq
MIRT771707	hsa-miR-4735-5p	CLIP-seq
MIRT771708	hsa-miR-4775	CLIP-seq
MIRT771709	hsa-miR-590-3p	CLIP-seq
MIRT2443312	hsa-miR-1234	CLIP-seq
MIRT2443313	hsa-miR-1254	CLIP-seq
MIRT2443314	hsa-miR-129-5p	CLIP-seq
MIRT2443315	hsa-miR-1296	CLIP-seq
MIRT2443316	hsa-miR-1470	CLIP-seq
MIRT2443317	hsa-miR-2113	CLIP-seq
MIRT2443318	hsa-miR-3116	CLIP-seq
MIRT2443319	hsa-miR-3140-3p	CLIP-seq
MIRT2443320	hsa-miR-3163	CLIP-seq
MIRT2443321	hsa-miR-4252	CLIP-seq
MIRT2443322	hsa-miR-4254	CLIP-seq
MIRT2443323	hsa-miR-4281	CLIP-seq
MIRT2443324	hsa-miR-4427	CLIP-seq
MIRT2443325	hsa-miR-4469	CLIP-seq
MIRT2443326	hsa-miR-4471	CLIP-seq
MIRT2443327	hsa-miR-4512	CLIP-seq
MIRT2443328	hsa-miR-4667-3p	CLIP-seq
MIRT2443329	hsa-miR-4688	CLIP-seq
MIRT2443330	hsa-miR-4717-3p	CLIP-seq
MIRT2443331	hsa-miR-4802-3p	CLIP-seq
MIRT2443332	hsa-miR-548c-3p	CLIP-seq
MIRT2443314	hsa-miR-129-5p	CLIP-seq
MIRT2443315	hsa-miR-1296	CLIP-seq
MIRT2443316	hsa-miR-1470	CLIP-seq
MIRT2443317	hsa-miR-2113	CLIP-seq
MIRT2443319	hsa-miR-3140-3p	CLIP-seq
MIRT2443320	hsa-miR-3163	CLIP-seq
MIRT2443321	hsa-miR-4252	CLIP-seq
MIRT2443323	hsa-miR-4281	CLIP-seq
MIRT2443324	hsa-miR-4427	CLIP-seq
MIRT2443325	hsa-miR-4469	CLIP-seq
MIRT2443327	hsa-miR-4512	CLIP-seq
MIRT2443328	hsa-miR-4667-3p	CLIP-seq
MIRT2443329	hsa-miR-4688	CLIP-seq
MIRT2443332	hsa-miR-548c-3p	CLIP-seq
MIRT2443314	hsa-miR-129-5p	CLIP-seq
MIRT2443315	hsa-miR-1296	CLIP-seq
MIRT2443316	hsa-miR-1470	CLIP-seq
MIRT2443317	hsa-miR-2113	CLIP-seq
MIRT2443319	hsa-miR-3140-3p	CLIP-seq
MIRT2443320	hsa-miR-3163	CLIP-seq
MIRT2443321	hsa-miR-4252	CLIP-seq
MIRT2443324	hsa-miR-4427	CLIP-seq
MIRT2443325	hsa-miR-4469	CLIP-seq
MIRT2443327	hsa-miR-4512	CLIP-seq
MIRT2443328	hsa-miR-4667-3p	CLIP-seq
MIRT2443329	hsa-miR-4688	CLIP-seq
MIRT2443332	hsa-miR-548c-3p	CLIP-seq
MIRT2443314	hsa-miR-129-5p	CLIP-seq
MIRT2443315	hsa-miR-1296	CLIP-seq
MIRT2443316	hsa-miR-1470	CLIP-seq
MIRT2443317	hsa-miR-2113	CLIP-seq
MIRT2443319	hsa-miR-3140-3p	CLIP-seq
MIRT2443320	hsa-miR-3163	CLIP-seq
MIRT2443321	hsa-miR-4252	CLIP-seq
MIRT2443324	hsa-miR-4427	CLIP-seq
MIRT2443325	hsa-miR-4469	CLIP-seq
MIRT2443327	hsa-miR-4512	CLIP-seq
MIRT2443328	hsa-miR-4667-3p	CLIP-seq
MIRT2443329	hsa-miR-4688	CLIP-seq
MIRT2443332	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	ISS
GO:0005634	Component	Nucleus	IDA	23085998
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015631	Function	Tubulin binding	IBA
GO:0015631	Function	Tubulin binding	IEA
GO:0015631	Function	Tubulin binding	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030496	Component	Midbody	IDA	23085998
GO:0030496	Component	Midbody	IEA
GO:0035608	Process	Protein deglutamylation	ISS
GO:0035609	Process	C-terminal protein deglutamylation	ISS
GO:0035610	Process	Protein side chain deglutamylation	ISS
GO:0035611	Process	Protein branching point deglutamylation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	ISS
GO:0072686	Component	Mitotic spindle	IDA	23085998

MIM	HGNC	e!Ensembl
615900	26147	ENSG00000084693

Q8NDL9

Protein name

Cytosolic carboxypeptidase-like protein 5 (EC 3.4.17.-) (EC 3.4.17.24) (ATP/GTP-binding protein-like 5) (Protein deglutamylase CCP5)

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 alpha- a

PDB

8V3M , 8V3N , 8V3O , 8V3P , 8V3Q , 8V3R , 8V3S , 8V4K , 8V4L , 8V4M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18027	Pepdidase_M14_N	10 → 155	Cytosolic carboxypeptidase N-terminal domain	Domain
PF00246	Peptidase_M14	196 → 521	Zinc carboxypeptidase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain.

Sequence

MELRCGGLLFSSRFDSGNLAHVEKVESLSSDGEGVGGGASALTSGIASSPDYEFNVWTRP
DCAETEFENGNRSWFYFSVRGGMPGKLIKINIMNMNKQSKLYSQGMAPFVRTLPTRPRWE
RIRDRPTFEMTETQFVLSFVHRFVEGRGATTFFAFCYPFSYSDCQELLNQLDQRFPENHP
THSSPLDTIYYHRELLCYSLDGLRVDLLTITSCHGLREDREPRLEQLFPDTSTPRPFRFA
GKRIFFLSSRVHPGETPSSFVFNGFLDFILRPDDPRAQTLRRLFVFKLIPMLNPDGVVRG
HYRTDSRGVNLNRQYLKPDAVLHPAIYGAKAVLLYHHVHSRLNSQSSSEHQPSSCLPPDA
PVSDLEKANNLQNEAQCGHSADRHNAEAWKQTEPAEQKLNSVWIMPQQSAGLEESAPDTI
PPKESGVAYYVDLHGHASKRGCFMYGNSFSDESTQVENMLYPKLISLNSAHFDFQGCNFS
EKNMYARDRRDGQSKEGSGRVAIYKASGIIHSYTLECNYNTGRSVNSIPAACHDNGRASP
PPPPAFPSRYTVELFEQVGRAMAIAALDMAECNPWPRIVLSEHSSLTNLRAWMLKHVRNS
RGLSSTLNVGVNKKRGLRTPPKSHNGLPVSCSENTLSRARSFSTGTSAGGSSSSQQNSPQ
MKNSPSFPFHGSRPAGLPGLGSSTQKVTHRVLGPVREPRSQDRRRQQQPLNHRPAGSLAP
SPAPTSSGPASSHKLGSCLLPDSFNIPGSSCSLLSSGDKPEAVMVIGKGLLGTGARMPCI
KTRLQARPRLGRGSPPTRRGMKGSSGPTSPTPRTRESSELELGSCSATPGLPQARPPRPR
SAPAFSPISCSLSDSPSWNCYSRGPLGQPEVCFVPKSPPLTVSPRV

Sequence length

886

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Likely pathogenic	rs1668413357	RCV001257832	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic	rs2465479726, rs1668402514	RCV003890634 RCV001073806	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs1285501658	RCV001002861	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 75	Likely pathogenic; Pathogenic	rs1271339736, rs2465472339, rs879253768, rs1668280406, rs1668413357	RCV001542736 RCV003164466 RCV000234931 RCV001269027 RCV004798900	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AGBL5-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28812028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	39672920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	39672920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed astigmatism	Mixed astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	17065527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	39672920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26720455, 27764769, 30925032		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	26720455		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27764769, 30925032, 39672920	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 75	Retinitis Pigmentosa	UNIPROT_DG	26355662, 26720455, 27764769, 27842159		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 75	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	27842159		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 75	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 75	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	Rhyns syndrome	Pubtator	39672920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	39672920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AGBL5 (AGBL carboxypeptidase 5)