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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27229
Gene name	Tubulin gamma complex component 4
Gene symbol	TUBGCP4
Synonyms (NCBI Gene)	76PGCP-4GCP4Grip76MCCRP3
Chromosome	15
Chromosome location	15q15.3
Summary	This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure comp

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs794726855	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726856	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs886039671	C>AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555394706	AG>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555396535	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1595496969	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

271

Show/Hide all (271)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030219	hsa-miR-26b-5p	Microarray	19088304
MIRT050266	hsa-miR-25-3p	CLASH	23622248
MIRT042176	hsa-miR-484	CLASH	23622248
MIRT525347	hsa-miR-3646	PAR-CLIP	22012620
MIRT525346	hsa-miR-1252-3p	PAR-CLIP	22012620
MIRT525345	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT525344	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT525343	hsa-miR-3065-5p	PAR-CLIP	22012620
MIRT525342	hsa-miR-2117	PAR-CLIP	22012620
MIRT525341	hsa-miR-4273	PAR-CLIP	22012620
MIRT525340	hsa-miR-7156-5p	PAR-CLIP	22012620
MIRT525347	hsa-miR-3646	PAR-CLIP	22012620
MIRT525346	hsa-miR-1252-3p	PAR-CLIP	22012620
MIRT525345	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT525344	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT525343	hsa-miR-3065-5p	PAR-CLIP	22012620
MIRT525342	hsa-miR-2117	PAR-CLIP	22012620
MIRT525341	hsa-miR-4273	PAR-CLIP	22012620
MIRT525340	hsa-miR-7156-5p	PAR-CLIP	22012620
MIRT1463610	hsa-miR-1228	CLIP-seq
MIRT1463611	hsa-miR-125a-3p	CLIP-seq
MIRT1463612	hsa-miR-1277	CLIP-seq
MIRT1463613	hsa-miR-139-3p	CLIP-seq
MIRT1463614	hsa-miR-150	CLIP-seq
MIRT1463615	hsa-miR-188-3p	CLIP-seq
MIRT1463616	hsa-miR-23a	CLIP-seq
MIRT1463617	hsa-miR-23b	CLIP-seq
MIRT1463618	hsa-miR-23c	CLIP-seq
MIRT1463619	hsa-miR-3155	CLIP-seq
MIRT1463620	hsa-miR-3155b	CLIP-seq
MIRT1463621	hsa-miR-3163	CLIP-seq
MIRT1463622	hsa-miR-340	CLIP-seq
MIRT1463623	hsa-miR-3663-5p	CLIP-seq
MIRT1463624	hsa-miR-3672	CLIP-seq
MIRT1463625	hsa-miR-371-5p	CLIP-seq
MIRT1463626	hsa-miR-371b-5p	CLIP-seq
MIRT1463627	hsa-miR-3907	CLIP-seq
MIRT1463628	hsa-miR-3934	CLIP-seq
MIRT1463629	hsa-miR-4269	CLIP-seq
MIRT1463630	hsa-miR-4438	CLIP-seq
MIRT1463631	hsa-miR-4454	CLIP-seq
MIRT1463632	hsa-miR-4474-5p	CLIP-seq
MIRT1463633	hsa-miR-4530	CLIP-seq
MIRT1463634	hsa-miR-4707-3p	CLIP-seq
MIRT1463635	hsa-miR-4713-5p	CLIP-seq
MIRT1463636	hsa-miR-4715-3p	CLIP-seq
MIRT1463637	hsa-miR-4735-5p	CLIP-seq
MIRT1463638	hsa-miR-4775	CLIP-seq
MIRT1463639	hsa-miR-4781-3p	CLIP-seq
MIRT1463640	hsa-miR-4794	CLIP-seq
MIRT1463641	hsa-miR-4803	CLIP-seq
MIRT1463642	hsa-miR-5095	CLIP-seq
MIRT1463643	hsa-miR-5096	CLIP-seq
MIRT1463644	hsa-miR-532-3p	CLIP-seq
MIRT1463645	hsa-miR-590-3p	CLIP-seq
MIRT1463646	hsa-miR-617	CLIP-seq
MIRT1463647	hsa-miR-764	CLIP-seq
MIRT1463648	hsa-miR-767-3p	CLIP-seq
MIRT2139349	hsa-miR-106a	CLIP-seq
MIRT2139350	hsa-miR-106b	CLIP-seq
MIRT1463610	hsa-miR-1228	CLIP-seq
MIRT1463611	hsa-miR-125a-3p	CLIP-seq
MIRT1463612	hsa-miR-1277	CLIP-seq
MIRT2139351	hsa-miR-1321	CLIP-seq
MIRT1463614	hsa-miR-150	CLIP-seq
MIRT2139352	hsa-miR-17	CLIP-seq
MIRT2139353	hsa-miR-185	CLIP-seq
MIRT2139354	hsa-miR-20a	CLIP-seq
MIRT2139355	hsa-miR-20b	CLIP-seq
MIRT2139356	hsa-miR-302a	CLIP-seq
MIRT2139357	hsa-miR-302b	CLIP-seq
MIRT2139358	hsa-miR-302c	CLIP-seq
MIRT2139359	hsa-miR-302d	CLIP-seq
MIRT2139360	hsa-miR-302e	CLIP-seq
MIRT2139361	hsa-miR-3162-5p	CLIP-seq
MIRT2139362	hsa-miR-372	CLIP-seq
MIRT2139363	hsa-miR-373	CLIP-seq
MIRT1463627	hsa-miR-3907	CLIP-seq
MIRT1463628	hsa-miR-3934	CLIP-seq
MIRT2139364	hsa-miR-411	CLIP-seq
MIRT1463629	hsa-miR-4269	CLIP-seq
MIRT2139365	hsa-miR-4306	CLIP-seq
MIRT1463630	hsa-miR-4438	CLIP-seq
MIRT1463631	hsa-miR-4454	CLIP-seq
MIRT2139366	hsa-miR-4644	CLIP-seq
MIRT1463634	hsa-miR-4707-3p	CLIP-seq
MIRT1463636	hsa-miR-4715-3p	CLIP-seq
MIRT1463637	hsa-miR-4735-5p	CLIP-seq
MIRT2139367	hsa-miR-4739	CLIP-seq
MIRT2139368	hsa-miR-4756-5p	CLIP-seq
MIRT1463638	hsa-miR-4775	CLIP-seq
MIRT1463640	hsa-miR-4794	CLIP-seq
MIRT1463642	hsa-miR-5095	CLIP-seq
MIRT2139369	hsa-miR-512-3p	CLIP-seq
MIRT2139370	hsa-miR-519d	CLIP-seq
MIRT2139371	hsa-miR-520a-3p	CLIP-seq
MIRT2139372	hsa-miR-520b	CLIP-seq
MIRT2139373	hsa-miR-520c-3p	CLIP-seq
MIRT2139374	hsa-miR-520d-3p	CLIP-seq
MIRT2139375	hsa-miR-520e	CLIP-seq
MIRT2139376	hsa-miR-520g	CLIP-seq
MIRT2139377	hsa-miR-520h	CLIP-seq
MIRT2139378	hsa-miR-552	CLIP-seq
MIRT1463645	hsa-miR-590-3p	CLIP-seq
MIRT1463646	hsa-miR-617	CLIP-seq
MIRT1463647	hsa-miR-764	CLIP-seq
MIRT2139379	hsa-miR-93	CLIP-seq
MIRT2139349	hsa-miR-106a	CLIP-seq
MIRT2139350	hsa-miR-106b	CLIP-seq
MIRT2360099	hsa-miR-1200	CLIP-seq
MIRT1463610	hsa-miR-1228	CLIP-seq
MIRT2360100	hsa-miR-1234	CLIP-seq
MIRT1463611	hsa-miR-125a-3p	CLIP-seq
MIRT1463612	hsa-miR-1277	CLIP-seq
MIRT1463614	hsa-miR-150	CLIP-seq
MIRT2139352	hsa-miR-17	CLIP-seq
MIRT2360101	hsa-miR-1915	CLIP-seq
MIRT2360102	hsa-miR-1976	CLIP-seq
MIRT2139354	hsa-miR-20a	CLIP-seq
MIRT2139355	hsa-miR-20b	CLIP-seq
MIRT2360103	hsa-miR-2115	CLIP-seq
MIRT2139356	hsa-miR-302a	CLIP-seq
MIRT2139357	hsa-miR-302b	CLIP-seq
MIRT2139358	hsa-miR-302c	CLIP-seq
MIRT2139359	hsa-miR-302d	CLIP-seq
MIRT2139360	hsa-miR-302e	CLIP-seq
MIRT2360104	hsa-miR-323-5p	CLIP-seq
MIRT2360105	hsa-miR-3652	CLIP-seq
MIRT1463625	hsa-miR-371-5p	CLIP-seq
MIRT1463626	hsa-miR-371b-5p	CLIP-seq
MIRT2139362	hsa-miR-372	CLIP-seq
MIRT2139363	hsa-miR-373	CLIP-seq
MIRT1463627	hsa-miR-3907	CLIP-seq
MIRT1463628	hsa-miR-3934	CLIP-seq
MIRT1463629	hsa-miR-4269	CLIP-seq
MIRT2360106	hsa-miR-4279	CLIP-seq
MIRT2360107	hsa-miR-4324	CLIP-seq
MIRT2360108	hsa-miR-4421	CLIP-seq
MIRT2360109	hsa-miR-4423-5p	CLIP-seq
MIRT2360110	hsa-miR-4430	CLIP-seq
MIRT1463630	hsa-miR-4438	CLIP-seq
MIRT1463631	hsa-miR-4454	CLIP-seq
MIRT2360111	hsa-miR-4492	CLIP-seq
MIRT2360112	hsa-miR-4498	CLIP-seq
MIRT1463634	hsa-miR-4707-3p	CLIP-seq
MIRT1463636	hsa-miR-4715-3p	CLIP-seq
MIRT2360113	hsa-miR-4726-3p	CLIP-seq
MIRT2360114	hsa-miR-4731-5p	CLIP-seq
MIRT1463637	hsa-miR-4735-5p	CLIP-seq
MIRT1463638	hsa-miR-4775	CLIP-seq
MIRT1463640	hsa-miR-4794	CLIP-seq
MIRT2360115	hsa-miR-498	CLIP-seq
MIRT1463642	hsa-miR-5095	CLIP-seq
MIRT2139369	hsa-miR-512-3p	CLIP-seq
MIRT2360116	hsa-miR-516a-3p	CLIP-seq
MIRT2139370	hsa-miR-519d	CLIP-seq
MIRT2139371	hsa-miR-520a-3p	CLIP-seq
MIRT2139372	hsa-miR-520b	CLIP-seq
MIRT2139373	hsa-miR-520c-3p	CLIP-seq
MIRT2139374	hsa-miR-520d-3p	CLIP-seq
MIRT2139375	hsa-miR-520e	CLIP-seq
MIRT2139376	hsa-miR-520g	CLIP-seq
MIRT2139377	hsa-miR-520h	CLIP-seq
MIRT2360117	hsa-miR-544b	CLIP-seq
MIRT2139378	hsa-miR-552	CLIP-seq
MIRT1463645	hsa-miR-590-3p	CLIP-seq
MIRT1463646	hsa-miR-617	CLIP-seq
MIRT2360118	hsa-miR-762	CLIP-seq
MIRT1463647	hsa-miR-764	CLIP-seq
MIRT2360119	hsa-miR-876-3p	CLIP-seq
MIRT2360120	hsa-miR-890	CLIP-seq
MIRT2139379	hsa-miR-93	CLIP-seq
MIRT2139353	hsa-miR-185	CLIP-seq
MIRT2360102	hsa-miR-1976	CLIP-seq
MIRT2360106	hsa-miR-4279	CLIP-seq
MIRT2139365	hsa-miR-4306	CLIP-seq
MIRT2360108	hsa-miR-4421	CLIP-seq
MIRT2139366	hsa-miR-4644	CLIP-seq
MIRT1463610	hsa-miR-1228	CLIP-seq
MIRT1463613	hsa-miR-139-3p	CLIP-seq
MIRT1463629	hsa-miR-4269	CLIP-seq
MIRT2360109	hsa-miR-4423-5p	CLIP-seq
MIRT1463630	hsa-miR-4438	CLIP-seq
MIRT2360111	hsa-miR-4492	CLIP-seq
MIRT2360112	hsa-miR-4498	CLIP-seq
MIRT1463636	hsa-miR-4715-3p	CLIP-seq
MIRT1463637	hsa-miR-4735-5p	CLIP-seq
MIRT1463640	hsa-miR-4794	CLIP-seq
MIRT1463642	hsa-miR-5095	CLIP-seq
MIRT2360118	hsa-miR-762	CLIP-seq
MIRT2139349	hsa-miR-106a	CLIP-seq
MIRT2139350	hsa-miR-106b	CLIP-seq
MIRT1463610	hsa-miR-1228	CLIP-seq
MIRT2360100	hsa-miR-1234	CLIP-seq
MIRT1463611	hsa-miR-125a-3p	CLIP-seq
MIRT1463614	hsa-miR-150	CLIP-seq
MIRT2139352	hsa-miR-17	CLIP-seq
MIRT2139354	hsa-miR-20a	CLIP-seq
MIRT2139355	hsa-miR-20b	CLIP-seq
MIRT2139356	hsa-miR-302a	CLIP-seq
MIRT2139357	hsa-miR-302b	CLIP-seq
MIRT2139358	hsa-miR-302c	CLIP-seq
MIRT2139359	hsa-miR-302d	CLIP-seq
MIRT2139360	hsa-miR-302e	CLIP-seq
MIRT2139362	hsa-miR-372	CLIP-seq
MIRT2139363	hsa-miR-373	CLIP-seq
MIRT1463628	hsa-miR-3934	CLIP-seq
MIRT1463629	hsa-miR-4269	CLIP-seq
MIRT1463630	hsa-miR-4438	CLIP-seq
MIRT1463631	hsa-miR-4454	CLIP-seq
MIRT1463634	hsa-miR-4707-3p	CLIP-seq
MIRT1463636	hsa-miR-4715-3p	CLIP-seq
MIRT2360114	hsa-miR-4731-5p	CLIP-seq
MIRT1463637	hsa-miR-4735-5p	CLIP-seq
MIRT1463638	hsa-miR-4775	CLIP-seq
MIRT1463640	hsa-miR-4794	CLIP-seq
MIRT1463642	hsa-miR-5095	CLIP-seq
MIRT2139369	hsa-miR-512-3p	CLIP-seq
MIRT2139370	hsa-miR-519d	CLIP-seq
MIRT2139371	hsa-miR-520a-3p	CLIP-seq
MIRT2139372	hsa-miR-520b	CLIP-seq
MIRT2139373	hsa-miR-520c-3p	CLIP-seq
MIRT2139374	hsa-miR-520d-3p	CLIP-seq
MIRT2139375	hsa-miR-520e	CLIP-seq
MIRT2139376	hsa-miR-520g	CLIP-seq
MIRT2139377	hsa-miR-520h	CLIP-seq
MIRT2139378	hsa-miR-552	CLIP-seq
MIRT1463645	hsa-miR-590-3p	CLIP-seq
MIRT1463646	hsa-miR-617	CLIP-seq
MIRT1463647	hsa-miR-764	CLIP-seq
MIRT2139379	hsa-miR-93	CLIP-seq
MIRT2139349	hsa-miR-106a	CLIP-seq
MIRT2139350	hsa-miR-106b	CLIP-seq
MIRT1463610	hsa-miR-1228	CLIP-seq
MIRT2360100	hsa-miR-1234	CLIP-seq
MIRT1463611	hsa-miR-125a-3p	CLIP-seq
MIRT1463614	hsa-miR-150	CLIP-seq
MIRT2139352	hsa-miR-17	CLIP-seq
MIRT2139354	hsa-miR-20a	CLIP-seq
MIRT2139355	hsa-miR-20b	CLIP-seq
MIRT2139356	hsa-miR-302a	CLIP-seq
MIRT2139357	hsa-miR-302b	CLIP-seq
MIRT2139358	hsa-miR-302c	CLIP-seq
MIRT2139359	hsa-miR-302d	CLIP-seq
MIRT2139360	hsa-miR-302e	CLIP-seq
MIRT2694496	hsa-miR-3149	CLIP-seq
MIRT2139362	hsa-miR-372	CLIP-seq
MIRT2139363	hsa-miR-373	CLIP-seq
MIRT1463628	hsa-miR-3934	CLIP-seq
MIRT1463629	hsa-miR-4269	CLIP-seq
MIRT1463630	hsa-miR-4438	CLIP-seq
MIRT1463631	hsa-miR-4454	CLIP-seq
MIRT1463634	hsa-miR-4707-3p	CLIP-seq
MIRT1463636	hsa-miR-4715-3p	CLIP-seq
MIRT2360114	hsa-miR-4731-5p	CLIP-seq
MIRT1463637	hsa-miR-4735-5p	CLIP-seq
MIRT1463638	hsa-miR-4775	CLIP-seq
MIRT1463640	hsa-miR-4794	CLIP-seq
MIRT1463642	hsa-miR-5095	CLIP-seq
MIRT2139369	hsa-miR-512-3p	CLIP-seq
MIRT2139370	hsa-miR-519d	CLIP-seq
MIRT2139371	hsa-miR-520a-3p	CLIP-seq
MIRT2139372	hsa-miR-520b	CLIP-seq
MIRT2139373	hsa-miR-520c-3p	CLIP-seq
MIRT2139374	hsa-miR-520d-3p	CLIP-seq
MIRT2139375	hsa-miR-520e	CLIP-seq
MIRT2139376	hsa-miR-520g	CLIP-seq
MIRT2139377	hsa-miR-520h	CLIP-seq
MIRT1463645	hsa-miR-590-3p	CLIP-seq
MIRT1463647	hsa-miR-764	CLIP-seq
MIRT2139379	hsa-miR-93	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000922	Component	Spindle pole	IEA
GO:0000930	Component	Gamma-tubulin complex	IBA
GO:0000931	Component	Gamma-tubulin ring complex	NAS	10562286
GO:0005200	Function	Structural constituent of cytoskeleton	NAS	10562286
GO:0005515	Function	Protein binding	IPI	19060904, 21725292, 25416956, 26213385, 26496610, 29892012, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	TAS	10562286
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007020	Process	Microtubule nucleation	IEA
GO:0007020	Process	Microtubule nucleation	NAS	10562286
GO:0015630	Component	Microtubule cytoskeleton	TAS	10562286
GO:0016020	Component	Membrane	HDA	19946888
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0043015	Function	Gamma-tubulin binding	IBA
GO:0043015	Function	Gamma-tubulin binding	IEA
GO:0051011	Function	Microtubule minus-end binding	IBA
GO:0051225	Process	Spindle assembly	IBA
GO:0051321	Process	Meiotic cell cycle	IBA
GO:0055037	Component	Recycling endosome	IDA	24561039
GO:0065003	Process	Protein-containing complex assembly	NAS	10562286

MIM	HGNC	e!Ensembl
609610	16691	ENSG00000137822

Q9UGJ1

Protein name

Gamma-tubulin complex component 4 (GCP-4) (hGCP4) (Gamma-ring complex protein 76 kDa) (h76p) (hGrip76)

Protein function

Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtu

PDB

3RIP , 6V69 , 6V6S , 7AS4 , 7QJ0 , 7QJ1 , 7QJ2 , 7QJ3 , 7QJ4 , 7QJ5 , 7QJ6 , 7QJ7 , 7QJ8 , 7QJ9 , 7QJA , 7QJB , 7QJC , 7QJD , 7QJE , 8Q62 , 8RX1 , 8VRD , 8VRJ , 8VRK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17681	GCP_N_terminal	2 → 347	Gamma tubulin complex component N-terminal	Domain
PF04130	GCP_C_terminal	350 → 655	Gamma tubulin complex component C-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed.

Sequence

MIHELLLALSGYPGSIFTWNKRSGLQVSQDFPFLHPSETSVLNRLCRLGTDYIRFTEFIE
QYTGHVQQQDHHPSQQGQGGLHGIYLRAFCTGLDSVLQPYRQALLDLEQEFLGDPHLSIS
HVNYFLDQFQLLFPSVMVVVEQIKSQKIHGCQILETVYKHSCGGLPPVRSALEKILAVCH
GVMYKQLSAWMLHGLLLDQHEEFFIKQGPSSGNVSAQPEEDEEDLGIGGLTGKQLRELQD
LRLIEEENMLAPSLKQFSLRVEILPSYIPVRVAEKILFVGESVQMFENQNVNLTRKGSIL
KNQEDTFAAELHRLKQQPLFSLVDFEQVVDRIRSTVAEHLWKLMVEESDLLGQLKIIKDF
YLLGRGELFQAFIDTAQHMLKTPPTAVTEHDVNVAFQQSAHKVLLDDDNLLPLLHLTIEY
HGKEHKADATQAREGPSRETSPREAPASGWAALGLSYKVQWPLHILFTPAVLEKYNVVFK
YLLSVRRVQAELQHCWALQMQRKHLKSNQTDAIKWRLRNHMAFLVDNLQYYLQVDVLESQ
FSQLLHQINSTRDFESIRLAHDHFLSNLLAQSFILLKPVFHCLNEILDLCHSFCSLVSQN
LGPLDERGAAQLSILVKGFSRQSSLLFKILSSVRNHQINSDLAQLLLRLDYNKYYTQAGG
TLGSFGM

Sequence length

667

Interactions

View interactions

	Reactome
			Recruitment of mitotic centrosome proteins and complexes Recruitment of NuMA to mitotic centrosomes

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive chorioretinopathy-microcephaly syndrome	Likely pathogenic; Pathogenic	rs200092283	RCV000825552	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly and chorioretinopathy 3	Likely pathogenic; Pathogenic	rs772200785, rs1196276711, rs755822321, rs200092283, rs794726855, rs794726856, rs1595496969, rs755174583	RCV001330521 RCV001725855 RCV002259418 RCV000170357 RCV000170358 RCV000170360 RCV000989298 RCV001262459 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TUBGCP4-related disorder	Likely pathogenic; Pathogenic	rs200092283	RCV003917581	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
AUTOSOMAL RECESSIVE CHORIORETINOPATHY AND MICROCEPHALY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	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
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY AND CHORIORETINOPATHY 1	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30886340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30886340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	25817018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive chorioretinopathy-microcephaly syndrome	Chorioretinopathy-Microcephaly Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	25817018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36530949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	25817018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	17236200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25817018, 30543990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	25817018, 33137195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3	Microcephaly with Chorioretinopathy	GENOMICS_ENGLAND_DG	25817018		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3	Microcephaly with Chorioretinopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly with Chorioretinopathy, Autosomal Recessive	Microcephaly with Chorioretinopathy	CLINVAR_DG	25817018		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly with Chorioretinopathy, Autosomal Recessive	Microcephaly with Chorioretinopathy	ORPHANET_DG	25817018		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly with Chorioretinopathy, Autosomal Recessive	Microcephaly with Chorioretinopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	25817018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Diseases	Retinal Diseases	BEFREE	31209365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	33137195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	33137195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TUBGCP4 (tubulin gamma complex component 4)