ZNF521 (zinc finger protein 521)

Gene

• Entrez ID: 25925
• Gene name: Zinc finger protein 521
• Gene symbol: ZNF521
• Synonyms (NCBI Gene): EHZF, Evi3
• Chromosome: 18
• Chromosome location: 18q11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031286	hsa-miR-19b-3p	Sequencing	20371350
MIRT2696068	hsa-miR-23a	CLIP-seq
MIRT2696069	hsa-miR-23b	CLIP-seq
MIRT2696070	hsa-miR-23c	CLIP-seq
MIRT2696071	hsa-miR-3151	CLIP-seq
MIRT2696072	hsa-miR-3170	CLIP-seq
MIRT2696073	hsa-miR-4267	CLIP-seq
MIRT2696074	hsa-miR-4447	CLIP-seq
MIRT2696075	hsa-miR-4472	CLIP-seq
MIRT2696076	hsa-miR-4708-3p	CLIP-seq
MIRT2696077	hsa-miR-491-5p	CLIP-seq
MIRT2696078	hsa-miR-520d-5p	CLIP-seq
MIRT2696079	hsa-miR-524-5p	CLIP-seq

Gene ontology (GO)

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	IDA	12393497
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030154	Process	Cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048663	Process	Neuron fate commitment	IEA

Other IDs

• MIM: 610974
• HGNC: 24605
• e!Ensembl: ENSG00000198795

Protein

• UniProt ID: Q96K83
• Protein name: Zinc finger protein 521 (Early hematopoietic zinc finger protein) (LYST-interacting protein 3)
• Protein function: Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 le
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13912	zf-C2H2_6	46 → 68		Domain
  PF00096	zf-C2H2	118 → 140	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	174 → 196	Zinc finger, C2H2 type	Domain
  PF13912	zf-C2H2_6	311 → 335		Domain
  PF13912	zf-C2H2_6	436 → 463		Domain
  PF13912	zf-C2H2_6	633 → 659		Domain
  PF00096	zf-C2H2	664 → 686	Zinc finger, C2H2 type	Domain
  PF13912	zf-C2H2_6	693 → 715		Domain
  PF13912	zf-C2H2_6	929 → 955		Domain
  PF13912	zf-C2H2_6	958 → 984		Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in hematopoietic cells. Present in organs and tissues that contain stem and progenitor cells, myeloid and/or lymphoid: placenta, spleen, lymph nodes, thymus, bone marrow and fetal liver. Within the hematopoietic
• Sequence:

  MSRRKQAKPRSLKDPNCKLEDKTEDGEALDCKKRPEDGEELEDEAVHSCDSCLQVFESLS
  DITEHKINQCQLTDGVDVEDDPTCSWPASSPSSKDQTSPSHGEGCDFGEEEGGPGLPYPC
  QFCDKSFSRLSYLKHHEQSHSDKLPFKCTYCSRLFKHKRSRDRHIKLHTGDKKYHCSECD
  AAFSRSDHLKIHLKTHTSNKPYKCAICRRGFLSSSSLHGHMQVHERNKDGSQSGSRMEDW
  KMKDTQKCSQCEEGFDFPEDLQKHIAECHPECSPNEDRAALQCVYCHELFVEETSLMNHM
  EQVHSGEKKNSCSICSESFHTVEELYSHMDSHQQPESCNHSNSPSLVTVGYTSVSSTTPD
  SNLSVDSSTMVEAAPPIPKSRGRKRAAQQTPDMTGPSSKQAKVTYSCIYCNKQLFSSLAV
  LQIHLKTMHLDKPEQAHICQYCLEVLPSLYNLNEHLKQVHEAQDPGLIVSAMPAIVYQCN
  FCSEVVNDLNTLQEHIRCSHGFANPAAKDSNAFFCPHCYMGFLTDSSLEEHIRQVHCDLS
  GSRFGSPVLGTPKEPVVEVYSCSYCTNSPIFNSVLKLNKHIKENHKNIPLALNYIHNGKK
  SRALSPLSPVAIEQTSLKMMQAVGGAPARPTGEYICNQCGAKYTSLDSFQTHLKTHLDTV
  LPKLTCPQCNKEFPNQESLLKHVTIHFMITSTYYICESCDKQFTSVDDLQKHLLDMHTFV
  FFRCTLCQEVFDSKVSIQLHLAVKHSNEKKVYRCTSCNWDFRNETDLQLHVKHNHLENQG
  KVHKCIFCGESFGTEVELQCHITTHSKKYNCKFCSKAFHAIILLEKHLREKHCVFETKTP
  NCGTNGASEQVQKEEVELQTLLTNSQESHNSHDGSEEDVDTSEPMYGCDICGAAYTMETL
  LQNHQLRDHNIRPGESAIVKKKAELIKGNYKCNVCSRTFFSENGLREHMQTHLGPVKHYM
  CPICGERFPSLLTLTEHKVTHSKSLDTGNCRICKMPLQSEEEFLEHCQMHPDLRNSLTGF
  RCVVCMQTVTSTLELKIHGTFHMQKTGNGSAVQTTGRGQHVQKLYKCASCLKEFRSKQDL
  VKLDINGLPYGLCAGCVNLSKSASPGINVPPGTNRPGLGQNENLSAIEGKGKVGGLKTRC
  SSCNVKFESESELQNHIQTIHRELVPDSNSTQLKTPQVSPMPRISPSQSDEKKTYQCIKC
  QMVFYNEWDIQVHVANHMIDEGLNHECKLCSQTFDSPAKLQCHLIEHSFEGMGGTFKCPV
  CFTVFVQANKLQQHIFSAHGQEDKIYDCTQCPQKFFFQTELQNHTMTQHSS

• Sequence length: 1311

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17897302, 20062079, 27088431		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20062079, 27088431		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	23907569, 31558698		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27805002	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	27805002		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26522721		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	17543573		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35061935	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27144525, 38268058	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20062079, 27088431, 27506447		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	23907569, 31558698		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31558698		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17543573, 20062079, 26788497, 27506447, 28412727		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34639154	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34639154	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28412727		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	35313831	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31526099	Stimulate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17543573, 23907569, 31558698		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	37083768	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19342626, 20062079, 31526099		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36191006	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26522721		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	26522721		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31526099, 36397644	Associate	★☆☆☆☆ Found in Text Mining only