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

1466

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV001386043 RCV001822974 RCV001823430 RCV001969553 RCV002014596 RCV001954731 RCV000128435 RCV000128436 RCV000128437 RCV000128438 RCV001994626 RCV001942250 RCV001941921 RCV001939365 RCV001958680 RCV001875585 RCV002008721 RCV002251212 RCV002596229 RCV002618352 RCV002797309 RCV002796671 RCV002825596 RCV002866653 RCV002857830 RCV002909995 RCV002927728 RCV003037570 RCV003055399 RCV003144805 RCV003326031 RCV003225662 RCV003225663 RCV003585506 RCV003584056 RCV003584117 RCV003584198 RCV003584274 RCV003746746 RCV003746700 RCV003747032 RCV003746968 RCV003747026 RCV003747083 RCV003747217 RCV003747353 RCV003746382 RCV003847585 RCV003841261 RCV003993544 RCV003991664 RCV000652268 RCV000556821 RCV003458167 RCV000687208 RCV000705674 RCV000795738 RCV000986324 RCV000986325 RCV000991357 RCV001061195 RCV001038884 RCV001056758 RCV001262232
DOCK7-related disorder	Likely pathogenic	rs2523721481	RCV003408592
Fetal akinesia deformation sequence 3	Likely pathogenic	rs2522881217	RCV003129597
Thymoma	Likely pathogenic	rs756259590	RCV005898586

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs79716948, rs192197842	RCV005897100 RCV005906420
Cervical cancer	Likely benign; Uncertain significance	rs116020848, rs540487612	RCV005920657 RCV005902025
Cholangiocarcinoma	Likely benign	rs79716948	RCV005897104
Clear cell carcinoma of kidney	Uncertain significance	rs754604342	RCV005911049
Colorectal cancer	Likely benign	rs373928701	RCV005906475
Familial cancer of breast	Likely benign	rs200258912, rs192197842	RCV005926224 RCV005906419
Familial pancreatic carcinoma	Likely benign	rs116020848	RCV005920658
Gastric cancer	Likely benign; Uncertain significance	rs747897931, rs372936902, rs79716948	RCV005934824 RCV005897107 RCV005897102
Hepatocellular carcinoma	Benign	rs1168089, rs1168088	RCV005911509 RCV005918352
Lung cancer	Likely benign	rs116020848, rs79716948	RCV005920661 RCV005897105
Lymphoma	Likely benign	rs116020848	RCV005920659
Malignant lymphoma, large B-cell, diffuse	Benign	rs199915737	RCV005871373
Malignant tumor of esophagus	Likely benign	rs116020848, rs79716948	RCV005920656 RCV005897101
Nonpapillary renal cell carcinoma	Benign	rs199915737	RCV005871372
Ovarian serous cystadenocarcinoma	Likely benign	rs116020848, rs79716948	RCV005920660 RCV005897103
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs199915737, rs79716948	RCV005871374 RCV005897106

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrophy	Associate	33471954
Blindness Cortical	Associate	24814191, 33471954
Brain Diseases	Associate	24814191, 33471954
Brain Stem Neoplasms	Associate	33471954
Cerebral Infarction	Associate	29454388
Coronary Artery Disease	Associate	29454388, 36416040
Coronary Occlusion	Associate	36416040
Epilepsies Partial	Associate	33471954
Epilepsy	Associate	33471954
Glioblastoma	Associate	24518591
Hypertension	Associate	29454388, 29989339
Immunologic Deficiency Syndromes	Inhibit	33471954
Infantile Epileptic Dyskinetic Encephalopathy	Associate	35806387
Intellectual Disability	Associate	33471954
Klinefelter Syndrome	Associate	32959501
Lung Neoplasms	Associate	36380607
Motor Neuron Disease	Associate	20383465
Neoplasms	Associate	24518591
Obesity	Associate	35052431
Uniparental Disomy	Associate	35806387
Vision Disorders	Associate	35806387

DOCK7 (dedicator of cytokinesis 7)