Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	3104
Gene name	Zinc finger and BTB domain containing 48
Gene symbol	ZBTB48
Synonyms (NCBI Gene)	HKR3TZAPZNF855pp9964
Chromosome	1
Chromosome location	1p36.31

miRTarBase ID	miRNA	Experiments	Reference
MIRT040593	hsa-miR-92b-3p	CLASH	23622248

22 Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IDA	28082411, 28500257
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	28500257
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003691	Function	Double-stranded telomeric DNA binding	IDA	28082411
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003723	Function	RNA binding	IDA	39300486
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IDA	39562739
GO:0008270	Function	Zinc ion binding	IEA
GO:0010833	Process	Telomere maintenance via telomere lengthening	IMP	28082411, 28500257
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	28500257
GO:0046872	Function	Metal ion binding	IEA
GO:0051252	Process	Regulation of RNA metabolic process	IMP	39300486

MIM	HGNC	e!Ensembl
165270	4930	ENSG00000204859

P10074

Protein name

Zinc finger and BTB domain-containing protein 48 (Krueppel-related zinc finger protein 3) (hKR3) (Telomere zinc finger-associated protein) (TZAP) (Telomere-binding protein and transcriptional activator ZBTB48) (Zinc finger protein 855)

Protein function

Plays a critical role in transcriptional regulation and chromatin remodeling. Acts as a regulator of telomere length (PubMed:28082411, PubMed:28500257). Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28082411, PubMed:28

PDB

3B84 , 5YJ3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	578 → 600	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	493 → 515	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	550 → 572	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	350 → 372	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	465 → 487	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	319 → 340	Zinc finger, C2H2 type	Domain
PF00651	BTB	16 → 119	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in adrenal gland and neuroblastoma. {ECO:0000269|PubMed:9516840}.

Sequence

MDGSFVQHSVRVLQELNKQREKGQYCDATLDVGGLVFKAHWSVLACCSHFFQSLYGDGSG
GSVVLPAGFAEIFGLLLDFFYTGHLALTSGNRDQVLLAARELRVPEAVELCQSFKPKTSV
GQAAGGQSGLGPPASQNVNSHVKEPAGLEEEEVSRTLGLVPRDQEPRGSHSPQRPQLHSP
AQSEGPSSLCGKLKQALKPCPLEDKKPEDCKVPPRPLEAEGAQLQGGSNEWEVVVQVEDD
GDGDYMSEPEAVLTRRKSNVIRKPCAAEPALSAGSLAAEPAENRKGTAVPVECPTCHKKF
LSKYYLKVHNRKHTGEKPFECPKCGKCYFRKENLLEHEARNCMNRSEQVFTCSVCQETFR
RRMELRVHMVSHTGEMPYKCSSCSQQFMQKKDLQSHMIKLHGAPKPHACPTCAKCFLSRT
ELQLHEAFKHRGEKLFVCEECGHRASSRNGLQMHIKAKHRNERPHVCEFCSHAFTQKANL
NMHLRTHTGEKPFQCHLCGKTFRTQASLDKHNRTHTGERPFSCEFCEQRFTEKGPLLRHV
ASRHQEGRPHFCQICGKTFKAVEQLRVHVRRHKGVRKFECTECGYKFTRQAHLRRHMEIH
DRVENYNPRQRKLRNLIIEDEKMVVVALQPPAELEVGSAEVIVESLAQGGLASQLPGQRL
CAEESFTGPGVLEPSLIITAAVPEDCDT

Sequence length

688

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (18)
Acute myeloid leukemia	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
Breast Neoplasms	Breast neoplasm	Pubtator	31752241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39300486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37723588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37723588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	9516832, 9516840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9516840		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with ZBTB48 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for ZBTB48.

Diseases Linked via Similar Genes Diseases curated for genes most similar to ZBTB48 (see Related Genes above), that are NOT already directly curated for ZBTB48 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to ZBTB48.

ZBTB48 (zinc finger and BTB domain containing 48)

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