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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O43167 |
| Protein name |
Zinc finger and BTB domain-containing protein 24 (Zinc finger protein 450) |
| Protein function |
May be involved in BMP2-induced transcription. |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00651 |
BTB |
27 → 133 |
BTB/POZ domain |
Domain |
| PF00096 |
zf-C2H2 |
295 → 316 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
322 → 344 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
350 → 372 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
378 → 400 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
407 → 428 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
434 → 456 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
462 → 484 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
490 → 512 |
Zinc finger, C2H2 type |
Domain |
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| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed, with highest levels in naive B-cells. {ECO:0000269|PubMed:21596365}. |
| Sequence |
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| Sequence length |
697 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
Pathogenic; Likely pathogenic |
rs770082593, rs1213180923, rs780371205, rs2482871841, rs750997585, rs1175562986, rs2482882627, rs2482852662, rs1776290442, rs2482881376, rs2482882661, rs2482879619, rs2482870790, rs1378940472, rs2482870919, rs2482872102, rs2482880840, rs2482872147, rs2482868678, rs2482880722, rs2482883789, rs2482880948, rs2482883121, rs2482882524, rs2482882746, rs1021104757, rs1776276356, rs2482881066, rs2482881880, rs370325706, rs387907104, rs1582683374, rs387907105, rs387907106, rs1131691654, rs1562305058, rs370370334, rs867580676, rs1776399868 View all (24 more) |
RCV001387547 RCV001887638 RCV002052143 RCV002471541 RCV003092402 RCV002607398 RCV002876099 RCV002975582 RCV003123568 RCV003447861 RCV003525627 RCV003526783 RCV003526924 RCV003527202 RCV003527558 RCV003641261 RCV003641430 RCV003641618 RCV003641816 RCV003641685 RCV003641807 RCV003640638 RCV003640678 RCV003640601 RCV003640628 RCV003640769 RCV003640766 RCV003640765 RCV003642300 RCV003814080 RCV003860730 RCV000024088 RCV000024090 RCV000024091 RCV000024092 RCV004596230 RCV000033203 RCV000024089 RCV000805088 RCV001224021 |
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| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs117893130 |
RCV005910862 |
| Cervical cancer |
Benign |
rs117893130 |
RCV005910865 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs117893130 |
RCV005910875 |
| Familial cancer of breast |
Likely benign |
rs765964812 |
RCV005870729 |
| Familial pancreatic carcinoma |
Benign; Likely benign |
rs80351559, rs117893130 |
RCV005900289 RCV005910868 |
| Gastric cancer |
Likely benign; Benign |
rs759212697, rs80351559, rs117893130 |
RCV005934622 RCV005900290 RCV005910870 |
| Kabuki syndrome 1 |
Conflicting classifications of pathogenicity |
rs147441359 |
RCV000578131 |
| Lymphoma |
Benign |
rs117893130 |
RCV005910871 |
| Malignant tumor of esophagus |
Benign |
rs117893130 |
RCV005910863 |
| Nonpapillary renal cell carcinoma |
Benign |
rs117893130 |
RCV005910864 |
| Ovarian cancer |
Benign |
rs117893130 |
RCV005910866 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs117893130 |
RCV005910872 |
| Sarcoma |
Benign |
rs117893130 |
RCV005910869 |
| Thymoma |
Benign |
rs117893130 |
RCV005910873 |
| Uterine corpus endometrial carcinoma |
Benign |
rs117893130 |
RCV005910874 |
| Uveal melanoma |
Benign |
rs117893130 |
RCV005910867 |
| ZBTB24-related disorder |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs779928437, rs765948250, rs61731736, rs80351559, rs765964812, rs142830104, rs149379400, rs148353968, rs200325007 |
RCV003921094 RCV003893123 RCV003965380 RCV003945646 RCV003937955 RCV003945645 RCV003913285 RCV003926224 RCV003967983 |
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