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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84627
Gene name Gene Name - the full gene name approved by the HGNC.	Zinc finger protein 469
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ZNF469
Synonyms (NCBI Gene) Gene synonyms aliases	BCS, BCS1, Zfp469
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Brittle Cornea Syndrome	Brittle cornea syndrome 1	rs1555519050, rs387907062, rs387907063, rs764139968, rs1597210953, rs886044697, rs2142314304	N/A
Keratoconus	keratoconus 1	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Ehlers-Danlos Syndrome	ehlers-danlos syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)