Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2195
Gene name Gene Name - the full gene name approved by the HGNC.
FAT atypical cadherin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAT1
Synonyms (NCBI Gene) Gene synonyms aliases
CDHF7, CDHR8, FAT, ME5, hFat1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q35.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane protei
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs180820128 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs185078412 G>T Likely-pathogenic Coding sequence variant, missense variant
rs201488687 T>C Likely-pathogenic Coding sequence variant, missense variant
rs369363545 G>A Likely-pathogenic Coding sequence variant, missense variant
rs375998390 G>A,C,T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047315 hsa-miR-181a-5p CLASH 23622248
MIRT046601 hsa-miR-222-3p CLASH 23622248
MIRT046026 hsa-miR-125b-5p CLASH 23622248
MIRT440671 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440671 hsa-miR-218-5p HITS-CLIP 23212916
Transcription factors
Transcription factor Regulation Reference
ING1 Unknown 15743678
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16979624, 19131340
GO:0005634 Component Nucleus IDA 15922730
GO:0005886 Component Plasma membrane IDA 15922730
GO:0005887 Component Integral component of plasma membrane TAS 8586420
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600976 3595 ENSG00000083857
Protein
UniProt ID Q14517
Protein name Protocadherin Fat 1 (Cadherin family member 7) (Cadherin-related tumor suppressor homolog) (Protein fat homolog) [Cleaved into: Protocadherin Fat 1, nuclear form]
Protein function [Protocadherin Fat 1]: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00028 Cadherin 154 248 Cadherin domain Domain
PF00028 Cadherin 468 560 Cadherin domain Domain
PF00028 Cadherin 722 813 Cadherin domain Domain
PF00028 Cadherin 827 918 Cadherin domain Domain
PF00028 Cadherin 932 1023 Cadherin domain Domain
PF00028 Cadherin 1039 1130 Cadherin domain Domain
PF00028 Cadherin 1144 1236 Cadherin domain Domain
PF00028 Cadherin 1261 1344 Cadherin domain Domain
PF00028 Cadherin 1363 1447 Cadherin domain Domain
PF00028 Cadherin 1461 1553 Cadherin domain Domain
PF00028 Cadherin 1567 1658 Cadherin domain Domain
PF00028 Cadherin 1672 1756 Cadherin domain Domain
PF00028 Cadherin 1774 1868 Cadherin domain Domain
PF00028 Cadherin 1891 1970 Cadherin domain Domain
PF00028 Cadherin 1984 2072 Cadherin domain Domain
PF00028 Cadherin 2086 2175 Cadherin domain Domain
PF00028 Cadherin 2187 2274 Cadherin domain Domain
PF00028 Cadherin 2288 2381 Cadherin domain Domain
PF00028 Cadherin 2395 2483 Cadherin domain Domain
PF00028 Cadherin 2497 2587 Cadherin domain Domain
PF00028 Cadherin 2601 2694 Cadherin domain Domain
PF00028 Cadherin 2708 2800 Cadherin domain Domain
PF00028 Cadherin 2814 2909 Cadherin domain Domain
PF00028 Cadherin 2923 3014 Cadherin domain Domain
PF00028 Cadherin 3028 3116 Cadherin domain Domain
PF00028 Cadherin 3130 3221 Cadherin domain Domain
PF00028 Cadherin 3235 3326 Cadherin domain Domain
PF00028 Cadherin 3340 3431 Cadherin domain Domain
PF00028 Cadherin 3445 3536 Cadherin domain Domain
PF02210 Laminin_G_2 3859 3985 Laminin G domain Domain
PF00008 EGF 4017 4048 EGF-like domain Domain
PF00008 EGF 4093 4123 EGF-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many epithelial and some endothelial and smooth muscle cells.
Sequence
MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMG
VYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIV
KALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGT
NGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSM
AKLTVHIE
QANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLL
QQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQF
KAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLI
SILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGT
TVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRA
SDWGLPYRREVEVLATITLN
NLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQ
LVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYIN
ITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTL
PTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPL
DRETTDKYTLNITVYDLGIPQKAAWRLLHVVVV
DANDNPPEFLQESYFVEVSEDKEVHSE
IIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQ
AREEPQLFSTVVVKVSLE
DVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSG
QVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEV
EVV
DVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDARRDGEIRYSIRDGSGVG
VFKIGEETGVIETSDRLDRESTSHYWLTVFATDQGVVPLSSFIEIYIEVE
DVNDNAPQTS
EPVYYPEIMENSPKDVSVVQIEAFDPDSSSNDKLMYKITSGNPQGFFSIHPKTGLITTTS
RKLDREQQDEHILEVTVTDNGSPPKSTIARVIVKIL
DENDNKPQFLQKFYKIRLPEREKP
DRERNARREPLYHVIATDKDEGPNAEISYSIEDGNEHGKFFIEPKTGVVSSKRFSAAGEY
DILSIKAVDNGRPQKSSTTRLHIE
WISKPKPSLEPISFEESFFTFTVMESDPVAHMIGVI
SVEPPGIPLWFDITGGNYDSHFDVDKGTGTIIVAKPLDAEQKSNYNLTVEATDGTTTILT
QVFIKVI
DTNDHRPQFSTSKYEVVIPEDTAPETEILQISAVDQDEKNKLIYTLQSSRDPL
SLKKFRLDPATGSLYTSEKLDHEAVHQHTLTVMVRDQDVPVKRNFARIVVNVS
DTNDHAP
WFTASSYKGRVYESAAVGSVVLQVTALDKDKGKNAEVLYSIESGNIGNSFMIDPVLGSIK
TAKELDRSNQAEYDLMVKATDKGSPPMSEITSVRIFVT
IADNASPKFTSKEYSVELSETV
SIGSFVGMVTAHSQSSVVYEIKDGNTGDAFDINPHSGTIITQKALDFETLPIYTLIIQGT
NMAGLSTNTTVLVHLQ
DENDNAPVFMQAEYTGLISESASINSVVLTDRNVPLVIRAADAD
KDSNALLVYHIVEPSVHTYFAIDSSTGAIHTVLSLDYEETSIFHFTVQVHDMGTPRLFAE
YAANVTVH
VIDINDCPPVFAKPLYEASLLLPTYKGVKVITVNATDADSSAFSQLIYSITE
GNIGEKFSMDYKTGALTVQNTTQLRSRYELTVRASDGRFAGLTSVKINVK
ESKESHLKFT
QDVYSAVVKENSTEAETLAVITAIGNPINEPLFYHILNPDRRFKISRTSGVLSTTGTPFD
REQQEAFDVVVEVTEEHKPSAVAHVVVKVIVE
DQNDNAPVFVNLPYYAVVKVDTEVGHVI
RYVTAVDRDSGRNGEVHYYLKEHHEHFQIGPLGEISLKKQFELDTLNKEYLVTVVAKDGG
NPAFSAEVIVPITVM
NKAMPVFEKPFYSAEIAESIQVHSPVVHVQANSPEGLKVFYSITD
GDPFSQFTINFNTGVINVIAPLDFEAHPAYKLSIRATDSLTGAHAEVFVDIIVD
DINDNP
PVFAQQSYAVTLSEASVIGTSVVQVRATDSDSEPNRGISYQMFGNHSKSHDHFHVDSSTG
LISLLRTLDYEQSRQHTIFVRAVDGGMPTLSSDVIVTVDVT
DLNDNPPLFEQQIYEARIS
EHAPHGHFVTCVKAYDADSSDIDKLQYSILSGNDHKHFVIDSATGIITLSNLHRHALKPF
YSLNLSVSDGVFRSSTQVHVTVI
GGNLHSPAFLQNEYEVELAENAPLHTLVMEVKTTDGD
SGIYGHVTYHIVNDFAKDRFYINERGQIFTLEKLDRETPAEKVISVRLMAKDAGGKVAFC
TVNVILT
DDNDNAPQFRATKYEVNIGSSAAKGTSVVKVLASDADEGSNADITYAIEADSE
SVKENLEINKLSGVITTKESLIGLENEFFTFFVRAVDNGSPSKESVVLVYVKIL
PPEMQL
PKFSEPFYTFTVSEDVPIGTEIDLIRAEHSGTVLYSLVKGNTPESNRDESFVIDRQSGRL
KLEKSLDHETTKWYQFSILARCTQDDHEMVASVDVSIQVK
DANDNSPVFESSPYEAFIVE
NLPGGSRVIQIRASDADSGTNGQVMYSLDQSQSVEVIESFAINMETGWITTLKELDHEKR
DNYQIKVVASDHGEKIQLSSTAIVDVTVT
DVNDSPPRFTAEIYKGTVSEDDPQGGVIAIL
STTDADSEEINRQVTYFITGGDPLGQFAVETIQNEWKVYVKKPLDREKRDNYLLTITATD
GTFSSKAIVEVKVL
DANDNSPVCEKTLYSDTIPEDVLPGKLIMQISATDADIRSNAEITY
TLLGSGAEKFKLNPDTGELKTSTPLDREEQAVYHLLVRATDGGGRFCQASIVLTLE
DVND
NAPEFSADPYAITVFENTEPGTLLTRVQATDADAGLNRKILYSLIDSADGQFSINELSGI
IQLEKPLDRELQAVYTLSLKAVDQGLPRRLTATGTVIVSVL
DINDNPPVFEYREYGATVS
EDILVGTEVLQVYAASRDIEANAEITYSIISGNEHGKFSIDSKTGAVFIIENLDYESSHE
YYLTVEATDGGTPSLSDVATVNVNVT
DINDNTPVFSQDTYTTVISEDAVLEQSVITVMAD
DADGPSNSHIHYSIIDGNQGSSFTIDPVRGEVKVTKLLDRETISGYTLTVQASDNGSPPR
VNTTTVNIDVS
DVNDNAPVFSRGNYSVIIQENKPVGFSVLQLVVTDEDSSHNGPPFFFTI
VTGNDEKAFEVNPQGVLLTSSAIKRKEKDHYLLQVKVADNGKPQLSSLTYIDIRVI
EESI
YPPAILPLEIFITSSGEEYSGGVIGKIHATDQDVYDTLTYSLDPQMDNLFSVSSTGGKLI
AHKKLDIGQYLLNVSVTDGKFTTVADITVHIRQVTQEMLNHTIAIRFANLTPEEFVGDYW
RNFQRALRNILGVRRNDIQIVSLQSSEPHPHLDVLLFVEKPGSAQISTKQLLHKINSSVT
DIEEIIGVRILNVFQKLCAGLDCPWKFCDEKVSVDESVMSTHSTARLSFVTPRHHRAAVC
LCKEGRCPPVHHGCEDDPCPEGSECVSDPWEEKHTCVCPSGRFGQCPGSSSMTLTGNSYV
KYRLTENENKLEMKLTMRLRTYSTHAVVMYARGTDYSILEIHHGRLQYKFDCGSGPGIVS
VQSIQVNDGQWHAVALEVNGNYARLVLDQVHTASGTAPGTLKTLNLDNYVFFGGHIRQQG
TRHGRSPQVGNGFRGCMDSIYLNGQ
ELPLNSKPRSYAHIEESVDVSPGCFLTATEDCASN
PCQNGGVCNPSPAGGYYCKCSALYIGTH
CEISVNPCSSKPCLYGGTCVVDNGGFVCQCRG
LYTGQRCQLSPYCKDEPCKNGGTCFDSLDGAVCQCDSGFRGERCQSDIDECSGNPCLHGA
LCENTHGSYHCNCSHEYRGRHCEDAAPNQYVSTPWNIGLAEGIGIVVFVAGIFLLVVVFV
LCRKMISRKKKHQAEPKDKHLGPATAFLQRPYFDSKLNKNIYSDIPPQVPVRPISYTPSI
PSDSRNNLDRNSFEGSAIPEHPEFSTFNPESVHGHRKAVAVCSVAPNLPPPPPSNSPSDS
DSIQKPSWDFDYDTKVVDLDPCLSKKPLEEKPSQPYSARESLSEVQSLSSFQSESCDDNG
YHWDTSDWMPSVPLPDIQEFPNYEVIDEQTPLYSADPNAIDTDYYPGGYDIESDFPPPPE
DFPAADELPPLPPEFSNQFESIHPPRDMPAAGSLGSSSRNRQRFNLNQYLPNFYPLDMSE
PQTKGTGENSTCREPHAPYPPGYQRHFEAPAVESMPMSVYASTASCSDVSACCEVESEVM
MSDYESGDDGHFEEVTIPPLDSQQHTEV
Sequence length 4588
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
23354438
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
23354438
Esophagus neoplasm Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 25151357
Unknown
Disease term Disease name Evidence References Source
Head and neck cancer Malignant Head and Neck Neoplasm 23354438 ClinVar
Mental depression Major Depressive Disorder 29317602 ClinVar
Mental Depression Mental Depression GWAS
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35212236
Adenocarcinoma of Lung Stimulate 35844799
Alzheimer Disease Associate 23251365
Anophthalmos Associate 34202629
Arthritis Juvenile Associate 38001449
Astrocytoma Associate 19126244
Ataxia Telangiectasia Associate 26439923
Brain Neoplasms Associate 34167951
Breast Neoplasms Associate 29807833, 34288822, 34544752, 37804426
Breast Neoplasms Male Associate 38369186