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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84627
Gene name	Zinc finger protein 469
Gene symbol	ZNF469
Synonyms (NCBI Gene)	BCSBCS1Zfp469
Chromosome	16
Chromosome location	16q24.2
Summary	This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments
MIRT1525775	hsa-miR-15a	CLIP-seq
MIRT1525776	hsa-miR-15b	CLIP-seq
MIRT1525777	hsa-miR-16	CLIP-seq
MIRT1525778	hsa-miR-185	CLIP-seq
MIRT1525779	hsa-miR-195	CLIP-seq
MIRT1525780	hsa-miR-23a	CLIP-seq
MIRT1525781	hsa-miR-23b	CLIP-seq
MIRT1525782	hsa-miR-23c	CLIP-seq
MIRT1525783	hsa-miR-25	CLIP-seq
MIRT1525784	hsa-miR-29a	CLIP-seq
MIRT1525785	hsa-miR-29b	CLIP-seq
MIRT1525786	hsa-miR-29c	CLIP-seq
MIRT1525787	hsa-miR-3154	CLIP-seq
MIRT1525788	hsa-miR-32	CLIP-seq
MIRT1525789	hsa-miR-323-3p	CLIP-seq
MIRT1525790	hsa-miR-338-3p	CLIP-seq
MIRT1525791	hsa-miR-363	CLIP-seq
MIRT1525792	hsa-miR-367	CLIP-seq
MIRT1525793	hsa-miR-424	CLIP-seq
MIRT1525794	hsa-miR-4306	CLIP-seq
MIRT1525795	hsa-miR-451b	CLIP-seq
MIRT1525796	hsa-miR-4530	CLIP-seq
MIRT1525797	hsa-miR-4643	CLIP-seq
MIRT1525798	hsa-miR-4644	CLIP-seq
MIRT1525799	hsa-miR-466	CLIP-seq
MIRT1525800	hsa-miR-4696	CLIP-seq
MIRT1525801	hsa-miR-4742-3p	CLIP-seq
MIRT1525802	hsa-miR-4789-3p	CLIP-seq
MIRT1525803	hsa-miR-4802-5p	CLIP-seq
MIRT1525804	hsa-miR-497	CLIP-seq
MIRT1525805	hsa-miR-630	CLIP-seq
MIRT1525806	hsa-miR-671-5p	CLIP-seq
MIRT1525807	hsa-miR-759	CLIP-seq
MIRT1525808	hsa-miR-92a	CLIP-seq
MIRT1525809	hsa-miR-92b	CLIP-seq
MIRT2158903	hsa-miR-1275	CLIP-seq
MIRT2158904	hsa-miR-1292	CLIP-seq
MIRT2158905	hsa-miR-3663-3p	CLIP-seq
MIRT2158906	hsa-miR-4297	CLIP-seq
MIRT2158907	hsa-miR-4468	CLIP-seq
MIRT2158908	hsa-miR-4525	CLIP-seq
MIRT2158909	hsa-miR-4665-5p	CLIP-seq
MIRT2158910	hsa-miR-4723-5p	CLIP-seq
MIRT2158911	hsa-miR-625	CLIP-seq
MIRT2378303	hsa-miR-101	CLIP-seq
MIRT2378304	hsa-miR-1266	CLIP-seq
MIRT2378305	hsa-miR-1272	CLIP-seq
MIRT2378306	hsa-miR-1322	CLIP-seq
MIRT2378307	hsa-miR-144	CLIP-seq
MIRT2378308	hsa-miR-4518	CLIP-seq
MIRT2378309	hsa-miR-582-5p	CLIP-seq
MIRT2378310	hsa-miR-885-3p	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	21664999
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	34673265
GO:0005634	Component	Nucleus	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1903053	Process	Regulation of extracellular matrix organization	IMP	21664999

MIM	HGNC	e!Ensembl
612078	23216	ENSG00000225614

Q96JG9

Protein name

Zinc finger protein 469

Protein function

May be involved in transcriptional regulation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	3310 → 3331	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in cornea, sclera, skin fibroblasts and striated muscle. {ECO:0000269|PubMed:18452888}.

Sequence

MPGERPRGAPPPTMTGDLQPRQVASSPGHPSQPPLEDNTPATRTTKGAREAGGQAQAMEL
PEAQPRQARDGELKPPSLRGQAPSSTPGKRGSPQTPPGRSPLQAPSRLAGRAEGSPPQRY
ILGIASSRTKPTLDETPENPQLEAAQLPEVDTPQGPGTGAPLRPGLPRTEAQPAAEELGF
HRCFQEPPSSFTSTNYTSPSATPRPPAPGPPQSRGTSPLQPGSYPEYQASGADSWPPAAE
NSFPGANFGVPPAEPEPIPKGSRPGGSPRGVSFQFPFPALHGASTKPFPADVAGHAFTNG
PLVFAFHQPQGAWPEEAVGTGPAYPLPTQPAPSPLPCYQGQPGGLNRHSDLSGALSSPGA
AHSAPRPFSDSLHKSLTKILPERPPSAQDGLGSTRGPPSSLPQRHFPGQAYRASGVDTSP
GPPDTELAAPGPPPARLPQLWDPTAAPYPTPPGGPLAATRSMFFNGQPSPGQRLCLPQSA
PLPWPQVLPTARPSPHGMEMLSRLPFPAGGPEWQGGSQGALGTAGKTPGPREKLPAVRSS
QGGSPALFTYNGMTDPGAQPLFFGVAQPQVSPHGTPSLPPPRVVGASPSESPLPSPATNT
AGSTCSSLSPMSSSPANPSSEESQLPGPLGPSAFFHPPTHPQETGSPFPSPEPPHSLPTH
YQPEPAKAFPFPADGLGAEGAFQCLEETPFPHEGPEVGRGGLQGFPRAPPPYPTHHFSLS
SASLDQLDVLLTCRQCDRNYSSLAAFLAHRQFCGLLLARAKDGHQRSPGPPGLPSPPAAP
RVPADAHAGLLSHAKTFLLAGDAQAEGKDDPLRTGFLPSLAATPFPLPASDLDMEDDAKL
DSLITEALNGMEYQSDNPEIDSSFIDVFADEEPSGPRGPSSGHPLKSKAGVTPESKAPPP
LPAATPDPQTPRPGDRGCPARGRPKTRSLGLAPTEADAPSQGRQQRRGKQLKLFRKDLDS
GGAAEGSGSGGGGRASGLRPRRNDGLGERPPPRPRRPRTQAPGSRADPAPRVPRAAALPE
ETRSSRRRRLPPRKDPRKRKARGGAWGKELILKIVQQKNRLREYDFASESEEDEQPPPRG
PGFRGRRGRGEKRKEVELTQGPREDEPQKPRKAARQEAGGDGAPANPEEPGGSRPGPGRS
PQARGPSRSLETGAAAREGGPKCADRPSVAPKDPLQVPTNTETSEETRPSLDFPQEAKEP
ETAEESAPDSTEFTEALRSPPAACAGEMGASPGLLIPEQPPPSRHDTGTPKPSGSLANTA
PHGSSPTPGVGSLLGGPGGTQAPVSHNSKDPPARQPGEFLAPVANPSSTACPKPSVLSSK
ISSFGCDPAGFNRDPLGVPVAKKGPQPYSSPHSELFLGPKDLAGCFLEELHPKPSARDAP
PASSSCLCQDGEDAGSLEPQLPRSPPGTAETEPGRAASPPTLESSSLFPDLPVDRFDPPL
YGSLSANRDSGLPFACADPPQKTVPSDPPYPSFLLLEEVSPMLPSHFPDLSGGKVLSKTC
PPERTVVPGAAPSLPGKGSGCSVALMSHLSEDELEIQKLVTELESQLQRSKDTRGAPREL
AEAESVGRVELGTGTEPPSQRRTCQATVPHEDTFSAADLTRVGESTAHREGAESAVATVE
AVQGRPGGTWPCPASFHPGHAALLPCAQEDLVSGAPFSPRGANFHFQPVQKAGASKTGLC
QAEGDSRPPQDVCLPEPSKQPGPQLDAGSLAKCSPDQELSFPKNKEAASSQESEDSLRLL
PCEQRGGFLPEPGTADQPHRGAPAPEAFGSPAVHLAPDLAFQGDGAPPLDATWPFGASPS
HAAQGHSAGRAGGHLHPTAGRPGFEGNEFAPAGASSLTAPRGREAWLVPVPSPACVSNTH
PSRRSQDPALSPPIRQLQLPGPGVAKSKDGILGLQELTPAAQSPPRVNPSGLEGGTVEGG
KVACGPAQGSPGGVQVTTLPAVAGHQLGLEADGHWGLLGQAEKTQGQGTANQLQPENGVS
PGGTDNHASVNASPKTALTGPTEGAVLLEKCKGSRAAMSLQEEAEPTPSPPSPNRESLAL
ALTAAHSRSGSEGRTPERASSPGLNKPLLATGDSPAPSVGDLAACAPSPTSAAHMPCSLG
PLPREDPLTSPSRAQGGLGGQLPASPSCRDPPGPQQLLACSPAWAPLEEADGVQATTDTG
AEDSPVAPPSLTTSPCDPKEALAGCLLQGEGSPLEDPSSWPPGSVSAVTCTHSGDTPKDS
TLRIPEDSRKEKLWESPGRATSPPLAGAVSPSVAVRATGLSSTPTGDEAQAGRGLPGPDP
QSRGAPPHTNPDRMPRGHSSYSPSNTARLGHREGQAVTAVPTEPPTLQGAGPDSPACLEG
EMGTSSKEPEDPGTPETGRSGATKMPRVTCPSTGLGLGRTTAPSSTASDFQSDSPQSHRN
ASHQTPQGDPLGPQDLKQRSRGYKKKPASTENGQWKGQAPHGPVTCEVCAASFRSGPGLS
RHKARKHRPHPGAPAEPSPAALPAQQPLEPLAQKCQPPRKKSHRVSGKERPNHSRGDPSH
VTQPPPAQGSKEVLRAPGSPHSQQLHPPSPTEHEVDVKTPASKPRPDQAREDELHPKQAE
KREGRRWRREPTVDSPSHSEGKSNKKRGKLRGRRLREESILPVSADVISDGRGSRPSPAM
ASYAASPSHCLSVEGGPEADGEQPPRLATLGPGVMEGAAETDQEALCAGETGAQKPPGDR
MLCPGRMDGAALGEQPTGQKGASARGFWGPRETKALGVCKESGSEPAEDSSRAHSRSEEG
VWEENTPPLGPLGFPETSSSPADSTTSSCLQGLPDNPDTQGGVQGPEGPTPDASGSSAKD
PPSLFDDEVSFSQLFPPGGRLTRKRNPHVYGKRCEKPVLPLPTQPSFEEGGDPTLGPARL
PTDLSDSSSLCLCHEDPWEDEDPAGLPESFLLDGFLNSRVPGIDPWAPGLSLWALEPSRE
AGAEKLPSHCPEDDRPEAIPELHMVPAAWRGLEMPAPADDSSSSLGDVSPEPPSLERERC
DGGLPGNTHLLPLRATDFEVLSTKFEMQDLCFLGPFEDPVGLPGPSFLDFEGTASSQGPQ
SRRTEEAAGAGRAQGRGRPAKGRRASYKCKVCFQRFRSLGELDLHKLAHTPAPPPTCYMC
VERRFGSRELLRGHLQERHAQSKAGPWACGMCLKEVADVWMYNEHLREHAVRFARRGQAR
RSLGDLPGGLEGSSAVAHLLNSITEPAPKHHRGKRSAGKAAGSPGDPWGQEGEAKKDSPG
ERAKPRARSTPSNPDGAATPDSASATALADAGSPGPPRTTPSPSPDPWAGGEPLLQATPV
HEACKDPSRDCHHCGKRFPKPFKLQRHLAVHSPQRVYLCPRCPRVYPEHGELLAHLGGAH
GLLERPELQHTPLYACELCATVMRIIKKSFACSSCNYTFAKKEQFDRHMNKHLRGGRQPF
AFRGVRRPGAPGQKARALEGTLPSKRRRVAMPGSAPGPGEDRPPPRGSSPILSEGSLPAL
LHLCSEVAPSTTKGWPETLERPVDPVTHPIRGCELPSNHQECPPPSLSPFPAALADGRGD
CALDGALERPENEASPGSPGPLLQQALPLGASLPRPGARGQDAEGKRAPLVFSGKRRAPG
ARGRCAPDHFQEDHLLQKEKEVSSSHMVSEGGPRGTFHKGSATKPAGCQSSSKDRSAAST
PSKALKFPVHPRKAVGSLAPGELARGTENGMKPATPKAKPGPSSQGSGSPRPGTKTGGGS
QPQPASGQLQSETATTPAKPSFPSRSPAPERLPARAQAKSCTKGPREAGEQGPHGSLGPK
EKGESSTKRKKGQVPGPARSESVGSFGRAPSAPDKPPRTPRKQATPSRVLPTKPKPNSQN
KPRPPPSEQRKAEPGHTQRKDRLGKAFPQGRPLLRPPKRGTAVHGAEPAEPHTHRTAEAQ
SDLLSQLFGQRLTGFKIPLKKDASE

Sequence length

3925

Interactions

View interactions

3864

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Brittle cornea syndrome 1	Pathogenic; Likely pathogenic	rs1232391570, rs2142304720, rs760186083, rs1172315984, rs1597210953, rs2142314304, rs2142312393, rs764139968, rs1567516825, rs2507590403, rs1368387219, rs2507597837, rs2507591028, rs886044697, rs779228663 View all (9 more)	RCV005409047 RCV005247280 RCV001806810 RCV002509711 RCV000000766 RCV000000767 RCV002240095 RCV002228785 RCV005019414 RCV003123419 RCV003123420 RCV003226717 RCV003230962 RCV003313950 RCV005014862 RCV004527485 RCV000023931 RCV000023932 RCV004555867 RCV001260231 RCV001260229 RCV001260232 RCV001260233 RCV001260230
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs1259194902, rs764745826, rs1222304580, rs2507577853, rs761379794, rs886039575, rs886044697, rs2507588914, rs779228663, rs2507571255	RCV004996112 RCV002366476 RCV002369039 RCV002425574 RCV004990892 RCV004992137 RCV002365328 RCV003382109 RCV004992716 RCV004523444
Ehlers-Danlos syndrome	Likely pathogenic	rs762301873	RCV002277945
Keratoconus 1	Likely pathogenic; Pathogenic	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150	RCV000114773 RCV000114786 RCV000114787 RCV000114795 RCV000114798 RCV000114800

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Brittle cornea syndrome	Conflicting classifications of pathogenicity	rs201834513	RCV002508931
Cervical cancer	Benign; Likely benign	rs145186655	RCV005894548
Cholangiocarcinoma	Likely benign	rs897179627	RCV005934709
Connective tissue disorder	Conflicting classifications of pathogenicity	rs940044560	RCV002276998
Keratoconus	Conflicting classifications of pathogenicity	rs273585623	RCV000991180
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs145186655	RCV005894549
ZNF469-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1394199246, rs74032866, rs183149417, rs375672779, rs771953783, rs1460697592, rs548774131, rs192819567, rs539874684, rs546137802, rs769834740, rs563202944, rs200684392, rs577241365, rs990424312 View all (135 more)	RCV003399115 RCV003931153 RCV003966152 RCV003948589 RCV003966180 RCV003966196 RCV004752013 RCV003980699 RCV003980698 RCV004731167 RCV004752015 RCV003405721 RCV003966222 RCV003966215 RCV003394153 RCV003900814 RCV003910916 RCV003956279 RCV003931230 RCV004752022 RCV003948628 RCV004752024 RCV004731175 RCV003945043 RCV004751264 RCV003952544 RCV003935092 RCV004752089 RCV003941203 RCV003948824 RCV004752081 RCV003923375 RCV003895850 RCV004750704 RCV003895948 RCV003950989 RCV003895778 RCV004752146 RCV004752137 RCV003968892 RCV003970958 RCV003958687 RCV003895830 RCV003970896 RCV004750720 RCV003960982 RCV003971225 RCV003896119 RCV003896129 RCV003408245 RCV003896141 RCV004750728 RCV004750731 RCV003943384 RCV003971271 RCV003896156 RCV004750733 RCV003961030 RCV004731270 RCV004750737 RCV003971293 RCV003896162 RCV005250248 RCV003927581 RCV003918941 RCV003961097 RCV003936290 RCV003943662 RCV004750876 RCV003939954 RCV003939971 RCV004751430 RCV003909981 RCV003909987 RCV004750885 RCV004751437 RCV003966304 RCV003920176 RCV003966336 RCV003421122 RCV003908983 RCV003946751 RCV003966591 RCV003956501 RCV003966626 RCV003893442 RCV003893449 RCV003893504 RCV003901962 RCV003979397 RCV003957653 RCV003920367 RCV003950091 RCV003972371 RCV003940261 RCV003972372 RCV003957655 RCV003910221 RCV003969908 RCV003920363 RCV003920365 RCV003922358 RCV003969910 RCV003920364 RCV004751459 RCV003972370 RCV003910219 RCV003910220 RCV004751462 RCV003969909 RCV003418009 RCV003920366 RCV003940260 RCV003957654 RCV004751460 RCV003922357 RCV004751461 RCV003957656 RCV003902458 RCV003950323 RCV003959886 RCV003922811 RCV003912761 RCV003960009 RCV003932678 RCV003932669 RCV003960008 RCV003932673 RCV003915332 RCV003915345 RCV003915344 RCV003419830 RCV003960143 RCV003962449 RCV003403240 RCV004751583 RCV003960236 RCV003403241 RCV004751579 RCV004751607 RCV003935582 RCV003915774 RCV003953017 RCV003917922 RCV003915759 RCV004751634 RCV003927958 RCV003980192 RCV003898014 RCV003936263 RCV004751880

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm	Associate	39769491
Aortic Dissection	Associate	39769491
Brittle cornea syndrome 1	Associate	20485516, 21664999, 23680354, 25564447, 26560304, 29228253, 31107761, 32671420, 39769491
Corneal Perforation	Associate	31107761
Disease	Associate	37884635
Ehlers Danlos Syndrome	Associate	33737726
Esophageal Neoplasms	Associate	33543230
Eye Diseases	Associate	37884635
Glaucoma Open Angle	Associate	25669751
Iliac Aneurysm	Associate	39769491
Intracranial Aneurysm	Associate	39769491
Joint Instability	Associate	25564447
Keratoconus	Associate	24895405, 25564447, 26040312, 26806788, 28207827, 28484309, 31107761, 38267912
Mental Disorders	Associate	37884635
Myopia	Associate	29346494, 37884635
Neoplasms	Associate	39238637
Nonsyndromic Deafness	Associate	29346494

ZNF469 (zinc finger protein 469)