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	85440
Gene name	Dedicator of cytokinesis 7
Gene symbol	DOCK7
Synonyms (NCBI Gene)	DEE23EIEE23ZIR2
Chromosome	1
Chromosome location	1p31.3
Summary	The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several tr

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144604663	T>A,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs368422761	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs587777484	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs587777485	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs756259590	T>A,C	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs758111714	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs763358033	C>T	Likely-pathogenic	Splice acceptor variant
rs886037665	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886037666	G>C	Pathogenic	Coding sequence variant, stop gained
rs1057520100	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1064797112	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1161370391	T>-	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1419019482	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1479675678	G>A,C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs1553156203	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553163123	C>T	Likely-pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs1557855477	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557864817	AATGA>T	Pathogenic	Coding sequence variant, frameshift variant
rs1571266478	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1571649028	AACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant

194

Show/Hide all (194)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005202	hsa-miR-30a-5p	pSILAC	18668040
MIRT006315	hsa-miR-21-5p	ImmunoblotLuciferase reporter assayqRT-PCR	22158624
MIRT006315	hsa-miR-21-5p	ImmunoblotLuciferase reporter assayqRT-PCR	22158624
MIRT006315	hsa-miR-21-5p	ImmunoblotLuciferase reporter assayqRT-PCR	22158624
MIRT005202	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT035812	hsa-miR-1307-3p	CLASH	23622248
MIRT504817	hsa-miR-5584-3p	HITS-CLIP	21572407
MIRT504816	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504815	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT504814	hsa-miR-567	HITS-CLIP	21572407
MIRT504813	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504812	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT504811	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504809	hsa-miR-3924	HITS-CLIP	21572407
MIRT504810	hsa-miR-297	HITS-CLIP	21572407
MIRT574255	hsa-miR-210-3p	HITS-CLIP	21572407
MIRT504808	hsa-miR-6083	HITS-CLIP	21572407
MIRT696425	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT696424	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT696423	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT696422	hsa-miR-759	HITS-CLIP	23313552
MIRT696421	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT696420	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT696419	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT696418	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT696417	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT696416	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT696415	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT696414	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT696413	hsa-miR-612	HITS-CLIP	23313552
MIRT696412	hsa-miR-6860	HITS-CLIP	23313552
MIRT696411	hsa-miR-5186	HITS-CLIP	23313552
MIRT696410	hsa-miR-4537	HITS-CLIP	23313552
MIRT696409	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT696408	hsa-miR-4252	HITS-CLIP	23313552
MIRT696407	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT696406	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT696405	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT696404	hsa-miR-7703	HITS-CLIP	23313552
MIRT650206	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT650205	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT650204	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT650203	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT650202	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT650201	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT650200	hsa-miR-7977	HITS-CLIP	23824327
MIRT650199	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT650198	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT650197	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT650196	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT650195	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT650194	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT650193	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT650192	hsa-miR-3689c	HITS-CLIP	23824327
MIRT650191	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT650190	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT650189	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT650188	hsa-miR-665	HITS-CLIP	23824327
MIRT574261	hsa-miR-5683	PAR-CLIP	20371350
MIRT574260	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT574259	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT574258	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT574257	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT574256	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT574255	hsa-miR-210-3p	PAR-CLIP	20371350
MIRT504816	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504815	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504814	hsa-miR-567	PAR-CLIP	21572407
MIRT504813	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504811	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504809	hsa-miR-3924	PAR-CLIP	21572407
MIRT504810	hsa-miR-297	PAR-CLIP	21572407
MIRT504808	hsa-miR-6083	PAR-CLIP	21572407
MIRT532182	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT532183	hsa-miR-5585-3p	PAR-CLIP	22012620
MIRT504817	hsa-miR-5584-3p	PAR-CLIP	23446348
MIRT504816	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504815	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504814	hsa-miR-567	PAR-CLIP	23446348
MIRT504813	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504811	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504809	hsa-miR-3924	PAR-CLIP	23446348
MIRT504810	hsa-miR-297	PAR-CLIP	23446348
MIRT504808	hsa-miR-6083	PAR-CLIP	23446348
MIRT504817	hsa-miR-5584-3p	PAR-CLIP	23446348
MIRT504816	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504815	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504814	hsa-miR-567	PAR-CLIP	23446348
MIRT504813	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504811	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504809	hsa-miR-3924	PAR-CLIP	23446348
MIRT504810	hsa-miR-297	PAR-CLIP	23446348
MIRT504808	hsa-miR-6083	PAR-CLIP	23446348
MIRT504817	hsa-miR-5584-3p	HITS-CLIP	21572407
MIRT504816	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504815	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT504814	hsa-miR-567	HITS-CLIP	21572407
MIRT504813	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504812	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT504811	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504809	hsa-miR-3924	HITS-CLIP	21572407
MIRT504810	hsa-miR-297	HITS-CLIP	21572407
MIRT574255	hsa-miR-210-3p	HITS-CLIP	21572407
MIRT504808	hsa-miR-6083	HITS-CLIP	21572407
MIRT696425	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT696424	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT696423	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT696422	hsa-miR-759	HITS-CLIP	23313552
MIRT696421	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT696420	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT696419	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT696418	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT696417	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT696416	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT696415	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT696414	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT696413	hsa-miR-612	HITS-CLIP	23313552
MIRT696412	hsa-miR-6860	HITS-CLIP	23313552
MIRT696411	hsa-miR-5186	HITS-CLIP	23313552
MIRT696410	hsa-miR-4537	HITS-CLIP	23313552
MIRT696409	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT696408	hsa-miR-4252	HITS-CLIP	23313552
MIRT696407	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT696406	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT696405	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT696404	hsa-miR-7703	HITS-CLIP	23313552
MIRT650206	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT650205	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT650204	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT650203	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT650202	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT650201	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT650200	hsa-miR-7977	HITS-CLIP	23824327
MIRT650199	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT650198	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT650197	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT650196	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT650195	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT650194	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT650193	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT650192	hsa-miR-3689c	HITS-CLIP	23824327
MIRT650191	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT650190	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT650189	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT650188	hsa-miR-665	HITS-CLIP	23824327
MIRT574261	hsa-miR-5683	PAR-CLIP	20371350
MIRT574260	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT574259	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT574258	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT574257	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT574256	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT574255	hsa-miR-210-3p	PAR-CLIP	20371350
MIRT504816	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504815	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504814	hsa-miR-567	PAR-CLIP	21572407
MIRT504813	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504811	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504809	hsa-miR-3924	PAR-CLIP	21572407
MIRT504810	hsa-miR-297	PAR-CLIP	21572407
MIRT504808	hsa-miR-6083	PAR-CLIP	21572407
MIRT532182	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT532183	hsa-miR-5585-3p	PAR-CLIP	22012620
MIRT504817	hsa-miR-5584-3p	PAR-CLIP	23446348
MIRT504816	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504815	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504814	hsa-miR-567	PAR-CLIP	23446348
MIRT504813	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504811	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504809	hsa-miR-3924	PAR-CLIP	23446348
MIRT504810	hsa-miR-297	PAR-CLIP	23446348
MIRT504808	hsa-miR-6083	PAR-CLIP	23446348
MIRT504817	hsa-miR-5584-3p	PAR-CLIP	23446348
MIRT504816	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504815	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504814	hsa-miR-567	PAR-CLIP	23446348
MIRT504813	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504812	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504811	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504809	hsa-miR-3924	PAR-CLIP	23446348
MIRT504810	hsa-miR-297	PAR-CLIP	23446348
MIRT504808	hsa-miR-6083	PAR-CLIP	23446348
MIRT1979231	hsa-miR-935	CLIP-seq
MIRT2214340	hsa-miR-18a	CLIP-seq
MIRT2214341	hsa-miR-18b	CLIP-seq
MIRT2214342	hsa-miR-4735-3p	CLIP-seq
MIRT2214343	hsa-miR-4774-5p	CLIP-seq
MIRT2214344	hsa-miR-668	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	16982419
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005096	Function	GTPase activator activity	IDA	16982419
GO:0005515	Function	Protein binding	IPI	24255178, 27812135, 29187380, 29467281, 32203420, 33961781, 35271311
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0007409	Process	Axonogenesis	IMP	16982419
GO:0008180	Component	COP9 signalosome	IDA	18850735
GO:0016601	Process	Rac protein signal transduction	IMP	16982419
GO:0022027	Process	Interkinetic nuclear migration	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	TAS	16982419
GO:0030426	Component	Growth cone	TAS	16982419
GO:0031175	Process	Neuron projection development	IMP	16982419
GO:0031267	Function	Small GTPase binding	IDA	16982419
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	TAS	16982419
GO:0045178	Component	Basal part of cell	TAS	16982419
GO:0045200	Process	Establishment of neuroblast polarity	IMP	16982419
GO:0050767	Process	Regulation of neurogenesis	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	23553822
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IMP	22158624

MIM	HGNC	e!Ensembl
615730	19190	ENSG00000116641

Q96N67

Protein name

Dedicator of cytokinesis protein 7

Protein function

Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon format

PDB

6AJ4 , 6AJL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11878	DUF3398	52 → 161	Domain of unknown function (DUF3398)	Domain
PF14429	DOCK-C2	557 → 736	C2 domain in Dock180 and Zizimin proteins	Domain
PF06920	DHR-2	1581 → 2107	Dock homology region 2	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11214970}.

Sequence

MAERRAFAQKISRTVAAEVRKQISGQYSGSPQLLKNLNIVGNISHHTTVPLTEAVDPVDL
EDYLITHPLAVDSGPLRDLIEFPPDDIEVVYSPRDCRTLVSAVPEESEMDPHVRDCIRSY
TEDWAIVIRKYHKLGTGFNPNTLDKQKERQKGLPKQVFESDEAPDGNSYQDDQDDLKRRS
MSIDDTPRGSWACSIFDLKNSLPDALLPNLLDRTPNEEIDRQNDDQRKSNRHKELFALHP
SPDEEEPIERLSVPDIPKEHFGQRLLVKCLSLKFEIEIEPIFASLALYDVKEKKKISENF
YFDLNSEQMKGLLRPHVPPAAITTLARSAIFSITYPSQDVFLVIKLEKVLQQGDIGECAE
PYMIFKEADATKNKEKLEKLKSQADQFCQRLGKYRMPFAWTAIHLMNIVSSAGSLERDST
EVEISTGERKGSWSERRNSSIVGRRSLERTTSGDDACNLTSFRPATLTVTNFFKQEGDRL
SDEDLYKFLADMRRPSSVLRRLRPITAQLKIDISPAPENPHYCLTPELLQVKLYPDSRVR
PTREILEFPARDVYVPNTTYRNLLYIYPQSLNFANRQGSARNITVKVQFMYGEDPSNAMP
VIFGKSSCSEFSKEAYTAVVYHNRSPDFHEEIKVKLPATLTDHHHLLFTFYHVSCQQKQN
TPLETPVGYTWIPMLQNGRLKTGQFCLPVSLEKPPQAYSVLSPEVPLPGMKWVDNHKGVF
NVEVVAVSSIHTQDPYLDKFFALVNALDEHLFPVRIGDMRIMENNLENELKSSISALNSS
QLEPVVRFLHLLLDKLILLVIRPPVIAGQIVNLGQASFEAMASIINRLHKNLEGNHDQHG
RNSLLASYIHYVFRLPNTYPNSSSPGPGGLGGSVHYATMARSAVRPASLNLNRSRSLSNS
NPDISGTPTSPDDEVRSIIGSKGLDRSNSWVNTGGPKAAPWGSNPSPSAESTQAMDRSCN
RMSSHTETSSFLQTLTGRLPTKKLFHEELALQWVVCSGSVRESALQQAWFFFELMVKSMV
HHLYFNDKLEAPRKSRFPERFMDDIAALVSTIASDIVSRFQKDTEMVERLNTSLAFFLND
LLSVMDRGFVFSLIKSCYKQVSSKLYSLPNPSVLVSLRLDFLRIICSHEHYVTLNLPCSL
LTPPASPSPSVSSATSQSSGFSTNVQDQKIANMFELSVPFRQQHYLAGLVLTELAVILDP
DAEGLFGLHKKVINMVHNLLSSHDSDPRYSDPQIKARVAMLYLPLIGIIMETVPQLYDFT
ETHNQRGRPICIATDDYESESGSMISQTVAMAIAGTSVPQLTRPGSFLLTSTSGRQHTTF
SAESSRSLLICLLWVLKNADETVLQKWFTDLSVLQLNRLLDLLYLCVSCFEYKGKKVFER
MNSLTFKKSKDMRAKLEEAILGSIGARQEMVRRSRGQLGTYTIASPPERSPSGSAFGSQE
NLRWRKDMTHWRQNTEKLDKSRAEIEHEALIDGNLATEANLIILDTLEIVVQTVSVTESK
ESILGGVLKVLLHSMACNQSAVYLQHCFATQRALVSKFPELLFEEETEQCADLCLRLLRH
CSSSIGTIRSHASASLYLLMRQNFEIGNNFARVKMQVTMSLSSLVGTSQNFNEEFLRRSL
KTILTYAEEDLELRETTFPDQVQDLVFNLHMILSDTVKMKEHQEDPEMLIDLMYRIAKGY
QTSPDLRLTWLQNMAGKHSERSNHAEAAQCLVHSAALVAEYLSMLEDRKYLPVGCVTFQN
ISSNVLEESAVSDDVVSPDEEGICSGKYFTESGLVGLLEQAAASFSMAGMYEAVNEVYKV
LIPIHEANRDAKKLSTIHGKLQEAFSKIVHQSTGWERMFGTYFRVGFYGTKFGDLDEQEF
VYKEPAITKLAEISHRLEGFYGERFGEDVVEVIKDSNPVDKCKLDPNKAYIQITYVEPYF
DTYEMKDRITYFDKNYNLRRFMYCTPFTLDGRAHGELHEQFKRKTILTTSHAFPYIKTRV
NVTHKEEIILTPIEVAIEDMQKKTQELAFATHQDPADPKMLQMVLQGSVGTTVNQGPLEV
AQVFLSEIPSDPKLFRHHNKLRLCFKDFTKRCEDALRKNKSLIGPDQKEYQRELERNYHR
LKEALQPLINRKIPQLYKAVLPVTCHRDSFSRMSLRKMDL

Sequence length

2140

Interactions

View interactions

	Reactome
			MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production

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
Developmental and epileptic encephalopathy, 23	Pathogenic; Likely pathogenic	rs1438270423, rs2149260122, rs774949595, rs2149320961, rs770283117, rs1174717913, rs2149480893, rs2149301822, rs2149393215, rs1450310137, rs2149499164, rs886037665, rs587777484, rs886037666, rs587777485 View all (52 more)	RCV002002536 RCV001377087 RCV001377226 RCV001390847 RCV001390940 View all (64 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DOCK7-related disorder	Likely pathogenic	rs2523721481	RCV003408592	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 3	Likely pathogenic	rs2522881217	RCV003129597	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic	rs756259590	RCV005898586	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET EPILEPTIC ENCEPHALOPATHY, CORTICAL BLINDNESS, INTELLECTUAL DISABILITY, FACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	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	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrophy	Atrophy	Pubtator	33471954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24814191, 33471954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	33471954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASDB_DG	18179892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	29454388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29454388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29454388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29454388, 36416040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29454388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16982419, 24814191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies Partial	Partial epilepsy	Pubtator	33471954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33471954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	24814191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	24814191		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23	Epileptic encephalopathy	ORPHANET_DG	24814191		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24518591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24518591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24518591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	29187380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	26493351		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	29454388, 29989339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia, Familial, 2	Hypobetalipoproteinemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	26493351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33471954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29454388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36380607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	20383465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35052431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28821457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	35806387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DOCK7 (dedicator of cytokinesis 7)