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	197407
Gene name	Zinc finger protein 48
Gene symbol	ZNF48
Synonyms (NCBI Gene)	ZNF553
Chromosome	16
Chromosome location	16p11.2

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023873	hsa-miR-1-3p	Microarray	18668037
MIRT042355	hsa-miR-484	CLASH	23622248
MIRT039013	hsa-miR-766-3p	CLASH	23622248
MIRT651125	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT651124	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT651123	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT651122	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT651121	hsa-miR-1470	HITS-CLIP	23824327
MIRT651120	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT651119	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651118	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT651117	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT651116	hsa-miR-1248	HITS-CLIP	23824327
MIRT651115	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT651114	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT651113	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT651112	hsa-miR-4469	HITS-CLIP	23824327
MIRT651111	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT651110	hsa-miR-4287	HITS-CLIP	23824327
MIRT651109	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651108	hsa-miR-623	HITS-CLIP	23824327
MIRT651107	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT651106	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT651105	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT651104	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT651103	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT651102	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT651101	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT651099	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT651100	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT651098	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT651097	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT651096	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT651095	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT627171	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT627170	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT627169	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT627168	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT627167	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT627166	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT627165	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT627164	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT627163	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT627162	hsa-miR-3650	HITS-CLIP	23824327
MIRT627161	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT627160	hsa-miR-5095	HITS-CLIP	23824327
MIRT627159	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT627158	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT651125	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT651124	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT651123	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT651122	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT651121	hsa-miR-1470	HITS-CLIP	23824327
MIRT651120	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT651119	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651118	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT651117	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT651116	hsa-miR-1248	HITS-CLIP	23824327
MIRT651115	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT651114	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT651113	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT651112	hsa-miR-4469	HITS-CLIP	23824327
MIRT651111	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT651110	hsa-miR-4287	HITS-CLIP	23824327
MIRT651109	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651108	hsa-miR-623	HITS-CLIP	23824327
MIRT651107	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT651106	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT651105	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT651104	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT651103	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT651102	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT651101	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT651099	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT651100	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT651098	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT651097	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT651096	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT651095	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT627171	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT627170	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT627169	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT627168	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT627167	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT627166	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT627165	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT627164	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT627163	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT627162	hsa-miR-3650	HITS-CLIP	23824327
MIRT627161	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT627160	hsa-miR-5095	HITS-CLIP	23824327
MIRT627159	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT627158	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT1526179	hsa-miR-31	CLIP-seq
MIRT1526180	hsa-miR-3128	CLIP-seq
MIRT1526181	hsa-miR-345	CLIP-seq
MIRT1526182	hsa-miR-4690-3p	CLIP-seq
MIRT1526183	hsa-miR-512-5p	CLIP-seq
MIRT1526184	hsa-miR-24	CLIP-seq
MIRT1526185	hsa-miR-3919	CLIP-seq
MIRT1526186	hsa-miR-4437	CLIP-seq
MIRT1526187	hsa-miR-4674	CLIP-seq
MIRT1526188	hsa-miR-4756-3p	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q96MX3

Protein name

Zinc finger protein 48 (Zinc finger protein 553)

Protein function

May be involved in transcriptional regulation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	113 → 134	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	140 → 162	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	192 → 214	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	220 → 242	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	275 → 297	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	303 → 325	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	331 → 353	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	359 → 381	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	451 → 473	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	479 → 501	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	543 → 565	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	571 → 593	Zinc finger, C2H2 type	Domain

Sequence

MERAVEPWGPDLHRPEEREPQRGARTGLGSENVISQPNEFEHTPQEDDLGFKEEDLAPDH
EVGNASLKPEGIQNWDDLWVQREGLGKPQPRDRGPRLLGEPRWGQASSDRAAVCGECGKS
FRQMSDLVKHQRTHTGEKPYKCGVCGKGFGDSSARIKHQRTHSGEKPYRARPPAQGPPKI
PRSRIPAGERPTICGECGKSFRQSSDLVKHQRTHTGEKPYKCGICGKGFGDSSARIKHQR
THRGEQPPRPVVPRRQPSRAATAATQGPKAQDKPYICTDCGKRFVLSCSLLSHQRSHLGP
KPFGCDVCGKEFARGSDLVKHLRVHTGEKPYLCPECGKGFADSSARVKHLRTHSGERPHA
CPECDRTFSLSSTLLRHRLTHMEPQDFSFPGYPLPALIPSPPPPPLGTSPPLTPRSPSHS
GEPFGLPGLEPEPGGPQAGEPPPPLAGDKPHKCPECGKGFRRSSDLVKHHRVHTGEKPYL
CPECGKGFADSSARVKHLRTHRGERARPPPPSTLLRPHNPPGPVPMAPRPRVRAQPSGPS
QPHVCGFCGKEFPRSSDLVKHRRTHTGEKPYKCAECGKGFGDSSARIKHQRGHLVLTPFG
IGDGRARPLKQEAATGLE

Sequence length

618

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ZNF48 (zinc finger protein 48)