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	79633
Gene name	FAT atypical cadherin 4
Gene symbol	FAT4
Synonyms (NCBI Gene)	CDHF14CDHR11FAT-JFATJHKLLS2NBLA00548VMLDS2
Chromosome	4
Chromosome location	4q28.1
Summary	The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene ha

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35845544	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs78040862	T>C	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs138019311	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, synonymous variant
rs144476127	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144922340	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs147297895	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs191329848	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Missense variant, intron variant, coding sequence variant
rs199682210	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs202216461	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant
rs370088878	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs398122953	G>T	Pathogenic	Coding sequence variant, missense variant
rs398122954	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122955	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122956	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122957	C>T	Pathogenic	Coding sequence variant, stop gained
rs567305960	C>G,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs587777724	->TGGAAC	Pathogenic	Inframe insertion, coding sequence variant
rs587777725	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs587777726	A>C,G	Pathogenic	Splice acceptor variant, missense variant, coding sequence variant, synonymous variant
rs963302668	G>T	Pathogenic	Splice donor variant
rs1064793943	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1085307886	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553931042	A>T	Likely-pathogenic	Stop gained, coding sequence variant

149

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miRTarBase ID	miRNA	Experiments	Reference
MIRT021819	hsa-miR-132-3p	Microarray	17612493
MIRT989937	hsa-miR-105	CLIP-seq
MIRT989938	hsa-miR-125a-5p	CLIP-seq
MIRT989939	hsa-miR-125b	CLIP-seq
MIRT989940	hsa-miR-1305	CLIP-seq
MIRT989941	hsa-miR-144	CLIP-seq
MIRT989942	hsa-miR-299-5p	CLIP-seq
MIRT989943	hsa-miR-3143	CLIP-seq
MIRT989944	hsa-miR-3658	CLIP-seq
MIRT989945	hsa-miR-3659	CLIP-seq
MIRT989946	hsa-miR-3662	CLIP-seq
MIRT989947	hsa-miR-3671	CLIP-seq
MIRT989948	hsa-miR-369-3p	CLIP-seq
MIRT989949	hsa-miR-374c	CLIP-seq
MIRT989950	hsa-miR-3941	CLIP-seq
MIRT989951	hsa-miR-4319	CLIP-seq
MIRT989952	hsa-miR-4501	CLIP-seq
MIRT989953	hsa-miR-4643	CLIP-seq
MIRT989954	hsa-miR-466	CLIP-seq
MIRT989955	hsa-miR-4672	CLIP-seq
MIRT989956	hsa-miR-4732-3p	CLIP-seq
MIRT989957	hsa-miR-4766-5p	CLIP-seq
MIRT989958	hsa-miR-4789-3p	CLIP-seq
MIRT989959	hsa-miR-494	CLIP-seq
MIRT989960	hsa-miR-509-3p	CLIP-seq
MIRT989961	hsa-miR-545	CLIP-seq
MIRT989962	hsa-miR-548a-5p	CLIP-seq
MIRT989963	hsa-miR-548ab	CLIP-seq
MIRT989964	hsa-miR-548ak	CLIP-seq
MIRT989965	hsa-miR-548b-5p	CLIP-seq
MIRT989966	hsa-miR-548c-5p	CLIP-seq
MIRT989967	hsa-miR-548d-5p	CLIP-seq
MIRT989968	hsa-miR-548h	CLIP-seq
MIRT989969	hsa-miR-548i	CLIP-seq
MIRT989970	hsa-miR-548j	CLIP-seq
MIRT989971	hsa-miR-548w	CLIP-seq
MIRT989972	hsa-miR-548y	CLIP-seq
MIRT989973	hsa-miR-559	CLIP-seq
MIRT989974	hsa-miR-582-5p	CLIP-seq
MIRT989975	hsa-miR-607	CLIP-seq
MIRT989976	hsa-miR-624	CLIP-seq
MIRT989977	hsa-miR-655	CLIP-seq
MIRT989978	hsa-miR-670	CLIP-seq
MIRT989979	hsa-miR-891b	CLIP-seq
MIRT989937	hsa-miR-105	CLIP-seq
MIRT2227267	hsa-miR-103a	CLIP-seq
MIRT2227268	hsa-miR-107	CLIP-seq
MIRT2227269	hsa-miR-15a	CLIP-seq
MIRT2227270	hsa-miR-15b	CLIP-seq
MIRT2227271	hsa-miR-16	CLIP-seq
MIRT2227272	hsa-miR-195	CLIP-seq
MIRT2227273	hsa-miR-214	CLIP-seq
MIRT2227274	hsa-miR-34a	CLIP-seq
MIRT2227275	hsa-miR-34c-5p	CLIP-seq
MIRT2227276	hsa-miR-3619-5p	CLIP-seq
MIRT2227277	hsa-miR-424	CLIP-seq
MIRT2227278	hsa-miR-4255	CLIP-seq
MIRT2227279	hsa-miR-4289	CLIP-seq
MIRT2227280	hsa-miR-4291	CLIP-seq
MIRT2227281	hsa-miR-4310	CLIP-seq
MIRT2227282	hsa-miR-449a	CLIP-seq
MIRT2227283	hsa-miR-449b	CLIP-seq
MIRT2227284	hsa-miR-497	CLIP-seq
MIRT2227285	hsa-miR-627	CLIP-seq
MIRT2227286	hsa-miR-761	CLIP-seq
MIRT2227287	hsa-miR-922	CLIP-seq
MIRT2227288	hsa-miR-924	CLIP-seq
MIRT2428745	hsa-miR-101	CLIP-seq
MIRT989941	hsa-miR-144	CLIP-seq
MIRT2428746	hsa-miR-4422	CLIP-seq
MIRT2428747	hsa-miR-520d-5p	CLIP-seq
MIRT2428748	hsa-miR-524-5p	CLIP-seq
MIRT2428749	hsa-miR-567	CLIP-seq
MIRT2437199	hsa-miR-208a	CLIP-seq
MIRT2437200	hsa-miR-208b	CLIP-seq
MIRT2437201	hsa-miR-3617	CLIP-seq
MIRT989944	hsa-miR-3658	CLIP-seq
MIRT2437202	hsa-miR-499-5p	CLIP-seq
MIRT2437203	hsa-miR-641	CLIP-seq
MIRT2531177	hsa-miR-1470	CLIP-seq
MIRT2531178	hsa-miR-203	CLIP-seq
MIRT2531179	hsa-miR-3163	CLIP-seq
MIRT2531180	hsa-miR-340	CLIP-seq
MIRT2531181	hsa-miR-3920	CLIP-seq
MIRT2531182	hsa-miR-3973	CLIP-seq
MIRT2531183	hsa-miR-4446-5p	CLIP-seq
MIRT2531184	hsa-miR-4667-3p	CLIP-seq
MIRT2531185	hsa-miR-4755-5p	CLIP-seq
MIRT2531186	hsa-miR-4795-3p	CLIP-seq
MIRT989962	hsa-miR-548a-5p	CLIP-seq
MIRT989963	hsa-miR-548ab	CLIP-seq
MIRT989964	hsa-miR-548ak	CLIP-seq
MIRT989965	hsa-miR-548b-5p	CLIP-seq
MIRT989966	hsa-miR-548c-5p	CLIP-seq
MIRT989967	hsa-miR-548d-5p	CLIP-seq
MIRT989968	hsa-miR-548h	CLIP-seq
MIRT989969	hsa-miR-548i	CLIP-seq
MIRT989970	hsa-miR-548j	CLIP-seq
MIRT989971	hsa-miR-548w	CLIP-seq
MIRT989972	hsa-miR-548y	CLIP-seq
MIRT989973	hsa-miR-559	CLIP-seq
MIRT2531187	hsa-miR-561	CLIP-seq
MIRT2531188	hsa-miR-595	CLIP-seq
MIRT2531189	hsa-miR-642a	CLIP-seq
MIRT2531190	hsa-miR-653	CLIP-seq
MIRT2680798	hsa-miR-1225-5p	CLIP-seq
MIRT2531177	hsa-miR-1470	CLIP-seq
MIRT2531178	hsa-miR-203	CLIP-seq
MIRT2680799	hsa-miR-2053	CLIP-seq
MIRT2680800	hsa-miR-3126-3p	CLIP-seq
MIRT2680801	hsa-miR-3148	CLIP-seq
MIRT2531179	hsa-miR-3163	CLIP-seq
MIRT2531180	hsa-miR-340	CLIP-seq
MIRT2531181	hsa-miR-3920	CLIP-seq
MIRT2531182	hsa-miR-3973	CLIP-seq
MIRT2680802	hsa-miR-3978	CLIP-seq
MIRT2531183	hsa-miR-4446-5p	CLIP-seq
MIRT2531184	hsa-miR-4667-3p	CLIP-seq
MIRT2531185	hsa-miR-4755-5p	CLIP-seq
MIRT989957	hsa-miR-4766-5p	CLIP-seq
MIRT2531186	hsa-miR-4795-3p	CLIP-seq
MIRT2680803	hsa-miR-548a-3p	CLIP-seq
MIRT989962	hsa-miR-548a-5p	CLIP-seq
MIRT989963	hsa-miR-548ab	CLIP-seq
MIRT2680804	hsa-miR-548ac	CLIP-seq
MIRT2680805	hsa-miR-548ae	CLIP-seq
MIRT2680806	hsa-miR-548aj	CLIP-seq
MIRT989964	hsa-miR-548ak	CLIP-seq
MIRT2680807	hsa-miR-548am	CLIP-seq
MIRT989965	hsa-miR-548b-5p	CLIP-seq
MIRT989966	hsa-miR-548c-5p	CLIP-seq
MIRT2680808	hsa-miR-548d-3p	CLIP-seq
MIRT989967	hsa-miR-548d-5p	CLIP-seq
MIRT2680809	hsa-miR-548e	CLIP-seq
MIRT2680810	hsa-miR-548f	CLIP-seq
MIRT989968	hsa-miR-548h	CLIP-seq
MIRT989969	hsa-miR-548i	CLIP-seq
MIRT989970	hsa-miR-548j	CLIP-seq
MIRT2680811	hsa-miR-548t	CLIP-seq
MIRT989971	hsa-miR-548w	CLIP-seq
MIRT2680812	hsa-miR-548x	CLIP-seq
MIRT989972	hsa-miR-548y	CLIP-seq
MIRT2680813	hsa-miR-548z	CLIP-seq
MIRT989973	hsa-miR-559	CLIP-seq
MIRT2531187	hsa-miR-561	CLIP-seq
MIRT2680814	hsa-miR-569	CLIP-seq
MIRT2531188	hsa-miR-595	CLIP-seq
MIRT2531189	hsa-miR-642a	CLIP-seq
MIRT2531190	hsa-miR-653	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	22153077
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007409	Process	Axonogenesis	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0022008	Process	Neurogenesis	ISS
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0035329	Process	Hippo signaling	ISS
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0048699	Process	Generation of neurons	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
612411	23109	ENSG00000196159

Q6V0I7

Protein name

Protocadherin Fat 4 (hFat4) (Cadherin family member 14) (FAT tumor suppressor homolog 4) (Fat-like cadherin protein FAT-J)

Protein function

Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).

PDB

8EGW , 8EGX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	140 → 241	Cadherin domain	Domain
PF00028	Cadherin	255 → 344	Cadherin domain	Domain
PF00028	Cadherin	363 → 466	Cadherin domain	Domain
PF00028	Cadherin	480 → 573	Cadherin domain	Domain
PF00028	Cadherin	588 → 680	Cadherin domain	Domain
PF00028	Cadherin	694 → 784	Cadherin domain	Domain
PF00028	Cadherin	798 → 884	Cadherin domain	Domain
PF00028	Cadherin	898 → 987	Cadherin domain	Domain
PF00028	Cadherin	1001 → 1091	Cadherin domain	Domain
PF00028	Cadherin	1105 → 1201	Cadherin domain	Domain
PF00028	Cadherin	1215 → 1306	Cadherin domain	Domain
PF00028	Cadherin	1321 → 1411	Cadherin domain	Domain
PF00028	Cadherin	1427 → 1520	Cadherin domain	Domain
PF00028	Cadherin	1538 → 1622	Cadherin domain	Domain
PF00028	Cadherin	1746 → 1832	Cadherin domain	Domain
PF00028	Cadherin	1846 → 1935	Cadherin domain	Domain
PF00028	Cadherin	1949 → 2042	Cadherin domain	Domain
PF00028	Cadherin	2055 → 2145	Cadherin domain	Domain
PF00028	Cadherin	2159 → 2250	Cadherin domain	Domain
PF00028	Cadherin	2264 → 2355	Cadherin domain	Domain
PF00028	Cadherin	2369 → 2457	Cadherin domain	Domain
PF00028	Cadherin	2471 → 2558	Cadherin domain	Domain
PF00028	Cadherin	2572 → 2660	Cadherin domain	Domain
PF00028	Cadherin	2674 → 2764	Cadherin domain	Domain
PF00028	Cadherin	2777 → 2863	Cadherin domain	Domain
PF00028	Cadherin	2877 → 2974	Cadherin domain	Domain
PF00028	Cadherin	2988 → 3080	Cadherin domain	Domain
PF00028	Cadherin	3094 → 3185	Cadherin domain	Domain
PF00028	Cadherin	3199 → 3289	Cadherin domain	Domain
PF00028	Cadherin	3303 → 3396	Cadherin domain	Domain
PF00028	Cadherin	3409 → 3501	Cadherin domain	Domain
PF00028	Cadherin	3513 → 3605	Cadherin domain	Domain
PF07645	EGF_CA	3862 → 3898	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	3900 → 3942	Calcium-binding EGF domain	Domain
PF12661	hEGF	3947 → 3965	Human growth factor-like EGF	Domain
PF02210	Laminin_G_2	4002 → 4142	Laminin G domain	Domain
PF02210	Laminin_G_2	4250 → 4374	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in fetal brain, infant brain, brain tumor and colorectal cancer. {ECO:0000269|PubMed:15003449, ECO:0000269|PubMed:16865240}.

Sequence

MDLAPDRATGRPWLPLHTLSVSQLLRVFWLLSLLPGQAWVHGAEPRQVFQVLEEQPPGTL
VGTIQTRPGFTYRLSESHALFAINSSTGALYTTSTIDRESLPSDVINLVVLSSAPTYPTE
VRVLVRDLNDNAPVFPDPSIVVTFKEDSSSGRQVILDTATDSDIGSNGVDHRSYRIIRGN
EAGRFRLDITLNPSGEGAFLHLVSKGGLDREVTPQYQLLVEVEDKGEPKRRGYLQVNVTV
QDINDNPPVFGSSHYQAGVPEDAVVGSSVLQVAAADADEGTNADIRYRLQDEGTPFQMDP
ETGLITVREPLDFEARRQYSLTVQAMDRGVPSLTGRAEALIQLLDVNDNDPVVKFRYFPA
TSRYASVDENAQVGTVVALLTVTDADSPAANGNISVQILGGNEQRHFEVQSSKVPNLSLI
KVASALDRERIPSYNLTVSVSDNYGAPPGAAVQARSSVASLVIFVNDINDHPPVFSQQVY
RVNLSEEAPPGSYVSGISATDGDSGLNANLRYSIVSGNGLGWFHISEHSGLVTTGSSGGL
DRELASQIVLNISARDQGVHPKVSYAQLVVTLLDVNDEKPVFSQPEGYDVSVVENAPTGT
ELLMLRATDGDLGDNGTVRFSLQEAETDRRSFRLDPVSGRLSTISSLDREEQAFYSLLVL
ATDLGSPPQSSMARINVSLLDINDNSPVFYPVQYFAHIKENEPGGSYITTVSATDPDLGT
NGTVKYSISAGDRSRFQVNAQSGVISTRMALDREEKTAYQLQIVATDGGNLQSPNQAIVT
ITVLDTQDNPPVFSQVAYSFVVFENVALGYHVGSVSASTMDLNSNISYLITTGDQKGMFA
INQVTGQLTTANVIDREEQSFYQLKVVASGGTVTGDTMVNITVKDLNDNSPHFLQAIESV
NVVENWQAGHSIFQAKAVDPDEGVNGMVLYSLKQNPKNLFAINEKNGTISLLGPLDVHAG
SYQIEILASDMGVPQLSSSVILTVYVHDVNDNSPVFDQLSYEVTLSESEPVNSRFFKVQA
SDKDSGANGEIAYTIAEGNTGDAFGIFPDGQLYIKSELDRELQDRYVLMVVASDRAVEPL
SATVNVTVILEDVNDNRPLFNSTNYTFYFEEEQRAGSFVGKVSAVDKDFGPNGEVRYSFE
MVQPDFELHAISGEITNTHQFDRESLMRRRGTAVFSFTVIATDQGIPQPLKDQATVHVYM
KDINDNAPKFLKDFYQATISESAANLTQVLRVSASDVDEGNNGLIHYSIIKGNEERQFAI
DSTSGQVTLIGKLDYEATPAYSLVIQAVDSGTIPLNSTCTLNIDILDENDNTPSFPKSTL
FVDVLENMRIGELVSSVTATDSDSGDNADLYYSITGTNNHGTFSISPNTGSIFLAKKLDF
ETQSLYKLNITAKDQGRPPRSSTMSVVIHVRDFNDNPPSFPPGDIFKSIVENIPIGTSVI
SVTAHDPDADINGQLSYTIIQQMPRGNHFTIDEVKGTIYTNAEIDREFANLFELTVKAND
QAVPIETRRYALKNVTILVTDLNDNVPMFISQNALAADPSAVIGSVLTTIMAADPDEGAN
GEIEYEIINGDTDTFIVDRYSGDLRVASALVPSQLIYNLIVSATDLGPERRKSTTELTII
LQGLDGPVFTQPKYITILKEGEPIGTNVISIEAASPRGSEAPVEYYIVSVRCEEKTVGRL
FTIGRHTGIIQTAAILDREQGACLYLVDVYAIEKSTAFPRTQRAEVEITLQDINDNPPVF
PTDMLDLTVEENIGDGSKIMQLTAMDADEGANALVTYTIISGADDSFRIDPESGDLIATR
RLDRERRSKYSLLVRADDGLQSSDMRINITVSDVNDHTPKFSRPVYSFDIPEDTIPGSLV
AAILATDDDSGVNGEITYIVNEDDEDGIFFLNPITGVFNLTRLLDYEVQQYYILTVRAED
GGGQFTTIRVYFNILDVNDNPPIFSLNSYSTSLMENLPVGSTVLVFNVTDADDGINSQLT
YSIASGDSLGQFTVDKNGVLKVLKALDRESQSFYNLVVQVHDLPQIPASRFTSTAQVSII
LLDVNDNPPTFLSPKLTYIPENTPIDTVVFKAQATDPDSGPNSYIEYTLLNPLGNKFSIG
TIDGEVRLTGELDREEVSNYTLTVVATDKGQPSLSSSTEVVVMVLDINDNNPIFAQALYK
VEINENTLTGTDIIQVFAADGDEGTNGQVRYGIVNGNTNQEFRIDSVTGAITVAKPLDRE
KTPTYHLTVQATDRGSTPRTDTSTVSIVLLDINDFVPVFELSPYSVNVPENLGTLPRTIL
QVVARDDDRGSNSKLSYVLFGGNEDNAFTLSASGELGVTQSLDRETKERFVLMITATDSG
SPALTGTGTINVIVDDVNDNVPTFASKAYFTTIPEDAPTGTDVLLVNASDADASKNAVIR
IIGGNSQFTINPSTGQIITSALLDRETKDNYTLVVVCSDAGSPEPLSSSTSVLVTVTDVN
DNPPRFQHHPYVTHIPSPTLPGSFVFAVTVTDADIGPNSELHYSLSGRNSEKFHIDPLRG
AIMAAGPLNGASEVTFSVHVKDGGSFPKTDSTTVTVRFVNKADFPKVRAKEQTFMFPENQ
PVSSLVTTITGSSLRGEPMSYYIASGNLGNTFQIDQLTGQVSISQPLDFEKIQKYVVWIE
ARDGGFPPFSSYEKLDITVLDVNDNAPIFKEDPFISEILENLSPRKILTVSAMDKDSGPN
GQLDYEIVNGNMENSFSINHATGEIRSVRPLDREKVSHYVLTIKSSDKGSPSQSTSVKVM
INILDENDNAPRFSQIFSAHVPENSPLGYTVTRVTTSDEDIGINAISRYSIMDASLPFTI
NPSTGDIVISRPLNREDTDRYRIRVSAHDSGWTVSTDVTIFVTDINDNAPRFSRTSYYLD
CPELTEIGSKVTQVFATDPDEGSNGQVFYFIKSQSEYFRINATTGEIFNKQILKYQNVTG
FSNVNINRHSFIVTSSDRGKPSLISETTVTINIVDSNDNAPQFLKSKYFTPVTKNVKVGT
KLIRVTAIDDKDFGLNSEVEYFISNDNHLGKFKLDNDTGWISVASSLISDLNQNFFITVT
AKDKGNPPLSSQATVHITVTEENYHTPEFSQSHMSATIPESHSIGSIVRTVSARDRDAAM
NGLIKYSISSGNEEGIFAINSSTGILTLAKALDYELCQKHEMTISAIDGGWVARTGYCSV
TVNVIDVNDNSPVFLSDDYFPTVLENAPSGTTVIHLNATDADSGTNAVIAYTVQSSDSDL
FVIDPNTGVITTQGFLDFETKQSYHLTVKAFNVPDEERCSFATVNIQLKGTNEYVPRFVS
KLYYFEISEAAPKGTIVGEVFASDRDLGTDGEVHYLIFGNSRKKGFQINKKTGQIYVSGI
LDREKEERVSLKVLAKNFGSIRGADIDEVTVNVTVLDANDPPIFTLNIYSVQISEGVPIG
THVTFVSAFDSDSIPSWSRFSYFIGSGNENGAFSINPQTGQITVTAELDRETLPIYNLSV
LAVDSGTPSATGSASLLVTLEDINDNGPMLTVSEGEVMENKRPGTLVMTLQSTDPDLPPN
QGPFTYYLLSTGPATSYFSLSTAGVLSTTREIDREQIADFYLSVVTKDSGVPQMSSTGTV
HITVIDQNDNPSQSRTVEIFVNYYGNLFPGGILGSVKPQDPDVLDSFHCSLTSGVTSLFS
IPGGTCDLNSQPRSTDGTFDLTVLSNDGVHSTVTSNIRVFFAGFSNATVDNSILLRLGVP
TVKDFLTNHYLHFLRIASSQLTGLGTAVQLYSAYEENNRTFLLAAVKRNHNQYVNPSGVA
TFFESIKEILLRQSGVKVESVDHDSCVHGPCQNGGSCLRRLAVSSVLKSRESLPVIIVAN
EPLQPFLCKCLPGYAGSWCEIDIDECLPSPCHSGGTCHNLVGGFSCSCPDGFTGRACERD
INECLQSPCKNGAICQNFPGSFNCVCKTGYTGKMCESSVNYCECNPCFNGGSCQSGVDSY
YCHCPFGVFGKHCELNSYGFEELSYMEFPSLDPNNNYIYVKFATIKSHALLLYNYDNQTG
DRAEFLALEIAEERLRFSYNLGSGTYKLTTMKKVSDGHFHTVIARRAGMAASLTVDSCSE
NQEPGYCTVSNVAVSDDWTLDVQPNRVTVGGIRSLEPILQRRGHVESHDFVGCIMEFAVN
GRPLEPSQALAAQGILDQCPRLEGACTRSPCQHGGTCMDYWSWQQCHCKEGLTGKYCEKS
VTPDTALSLEGKGRLDYHMSQNEKREYLLRQSLRGAMLEPFGVNSLEVKFRTRSENGVLI
HIQESSNYTTVKIKNGKVYFTSDAGIAGKVERNIPEVYVADGHWHTFLIGKNGTATVLSV
DRIYNRDIIHPTQDFGGLDVLTISLGGIPPNQAHRDAQTAGFDGCIASMWYGGESLPFSG
KHSLASISKTDPSVKIGCRGPNICASNPCWGDLLCINQWYAYRCVPPGDCASHPCQNGGS
CEPGLHSGFTCSCPDSHTGRTCEMVVACLGVLCPQGKVCKAGSPAGHVCVLSQGPEEISL
PLWAVPAIVGSCATVLALLVLSLILCNQCRGKKAKNPKEEKKPKEKKKKGSENVAFDDPD
NIPPYGDDMTVRKQPEGNPKPDIIERENPYLIYDETDIPHNSETIPSAPLASPEQEIEHY
DIDNASSIAPSDADIIQHYKQFRSHTPKFSIQRHSPLGFARQSPMPLGASSLTYQPSYGQ
GLRTSSLSHSACPTPNPLSRHSPAPFSKSSTFYRNSPARELHLPIRDGNTLEMHGDTCQP
GIFNYATRLGRRSKSPQAMASHGSRPGSRLKQPIGQIPLESSPPVGLSIEEVERLNTPRP
RNPSICSADHGRSSSEEDCRRPLSRTRNPADGIPAPESSSDSDSHESFTCSEMEYDREKP
MVYTSRMPKLSQVNESDADDEDNYGARLKPRRYHGRRAEGGPVGTQAAAPGTADNTLPMK
LGQQAGTFNWDNLLNWGPGFGHYVDVFKDLASLPEKAAANEEGKAGTTKPVPKDGEAEQY
V

Sequence length

4981

Interactions

View interactions

	KEGG
	Hippo signaling pathway - multiple species

921

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FAT4-related disorder	Likely pathogenic	rs2530424559	RCV003406071
Hennekam lymphangiectasia-lymphedema syndrome 2	Pathogenic; Likely pathogenic	rs587777724, rs587777725, rs587777726, rs2126083898, rs2530083642, rs398122955	RCV000144158 RCV000144159 RCV000144161 RCV002274857 RCV002280920 RCV000144157
Van Maldergem syndrome	Likely pathogenic; Pathogenic	rs567305960	RCV000825521
Van Maldergem syndrome 2	Likely pathogenic; Pathogenic	rs1735081763, rs963302668, rs398122953, rs398122954, rs398122955, rs370088878, rs398122956, rs398122957, rs2126029076	RCV002291365 RCV000761486 RCV000074488 RCV000074489 RCV000074490 RCV000074491 RCV000074492 RCV000074493 RCV001580580

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	rs200221425, rs760398912	RCV000207378 RCV000207371
Capillary infantile hemangioma	Uncertain significance	rs748266278, rs1727604042	RCV002254449 RCV002254450
Cervical cancer	Benign; Likely benign	rs35355603, rs147872710	RCV005897950 RCV005905546
Colon adenocarcinoma	Likely benign; Benign	rs201547149, rs114234553	RCV005923918 RCV005898070
Colorectal cancer	Conflicting classifications of pathogenicity	rs138275098	RCV005899964
Congenital anomaly of kidney and urinary tract	Uncertain significance	rs769424345, rs764097811	RCV001849467 RCV001849468
Congenital chromosomal disease	Conflicting classifications of pathogenicity; Uncertain significance	rs568003396, rs772246636	RCV005626502 RCV005626525
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs752651207	RCV004560270
Familial cancer of breast	Uncertain significance; Likely benign	rs372610330, rs374280237, rs147872710	RCV005925514 RCV005930369 RCV005905543
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs746792200, rs1471557300, rs35355603	RCV005912767 RCV005923988 RCV005897951
Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance	rs757518051, rs1553958385, rs1215405311, rs138817920	RCV005863702 RCV000626214 RCV000714818 RCV001824874
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	rs376545643, rs4605670, rs147872710	RCV005911125 RCV005924951 RCV005905545
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs144853732, rs767230275, rs377541040, rs1385531926, rs79909102	RCV005626435 RCV005626536 RCV005626669 RCV005626871 RCV005626390
Irido-corneo-trabecular dysgenesis	Conflicting classifications of pathogenicity	rs200221425	RCV000207378
Lung cancer	Likely benign; Benign	rs371688943, rs35355603, rs147872710	RCV005930490 RCV005897952 RCV005905548
Lymphedema	Benign; Likely benign	rs143534324	RCV005625605
Malignant tumor of esophagus	Benign; Likely benign	rs75441829, rs114234553	RCV005919395 RCV005898071
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	rs536513777, rs147872710	RCV005922892 RCV005905544
Microcephaly	Uncertain significance	rs1452017220	RCV001252935
Ovarian serous cystadenocarcinoma	Benign	rs75441829, rs144585931	RCV005919397 RCV005898809
Pancreatic adenocarcinoma	Likely benign	rs2126060372	RCV005925492
Sarcoma	Benign	rs75441829	RCV005919396
See cases	Uncertain significance	rs769424345	RCV002252296
Thymoma	Benign	rs75441829	RCV005919398
Thyroid cancer, nonmedullary, 1	Likely benign	rs147872710	RCV005905547
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114234553	RCV005898072
Van Maldergem syndrome 1	Uncertain significance	rs757518051, rs138817920	RCV005863702 RCV001824874

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	22143938, 35212236, 35770846
Breast Neoplasms	Inhibit	25679223
Breast Neoplasms	Associate	29321622, 33899544, 36051999, 36404592
Carcinogenesis	Associate	25679223
Carcinoma Acinar Cell	Associate	25743105
Carcinoma Basal Cell	Associate	33928395
Carcinoma Embryonal	Associate	36713456
Carcinoma Hepatocellular	Associate	26672766, 37735184
Carcinoma Hepatocellular	Inhibit	31395065
Carcinoma Lobular	Associate	27811364
Carcinoma Non Small Cell Lung	Associate	35212236, 35770846
Carcinoma Renal Cell	Associate	36051999
Carcinoma Squamous Cell	Associate	35212236, 35770846
Cleft Lip	Associate	34130359
Colonic Neoplasms	Associate	34790819
Colorectal Neoplasms	Associate	24951259, 28551381, 33063118, 33714943, 33836681, 37096801
Death	Inhibit	37735184
Endometrial Neoplasms	Associate	33536036
Glioblastoma	Associate	40362575
Hemangiosarcoma	Associate	40474296
Hemorrhage	Associate	36264285
Leukemia Myelomonocytic Chronic	Associate	26648538
Lung Neoplasms	Associate	38163953
Lymphoma	Associate	34166375
Lymphoma B Cell Marginal Zone	Associate	24349473
Lymphoma Large B Cell Diffuse	Associate	36811800
Melanoma	Inhibit	25679223
Melanoma	Associate	30791119, 37466203, 38383070
Neoplasm Metastasis	Associate	31341365, 32366234, 35770846
Neoplasms	Associate	22143938, 24150215, 24951259, 25743105, 26352260, 26672766, 31199602, 31312661, 31341365, 31395065, 33525650, 35212236, 35770846, 36051999, 36779847
Neoplasms	Inhibit	25679223, 30531873, 32366234
Neoplastic Syndromes Hereditary	Associate	33525650
Orofacial Cleft 1	Associate	34130359
Otitis Media	Associate	33693626
Ovarian Neoplasms	Associate	25545608
Ovarian Neoplasms	Inhibit	32366234
Polycystic Kidney Autosomal Dominant	Associate	29687770
Precancerous Conditions	Associate	33063118
Prostatic Neoplasms	Associate	28700469
Pseudomyxoma Peritonei	Associate	29936255
Respiratory Tract Infections	Associate	36818471
Retinoblastoma	Associate	32366234
Small Cell Lung Carcinoma	Associate	31199602
Stomach Neoplasms	Associate	31312661, 32034058, 33511732, 33525650, 36970058
Ureteral Neoplasms	Associate	36818471
Urethral Neoplasms	Associate	33588785
Urinary Bladder Neoplasms	Associate	36051999, 36818471

FAT4 (FAT atypical cadherin 4)