Gene Gene information from NCBI Gene database.
Entrez ID 22882
Gene name Zinc fingers and homeoboxes 2
Gene symbol ZHX2
Synonyms (NCBI Gene)
AFR1RAF
Chromosome 8
Chromosome location 8q24.13
Summary The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This g
miRNA miRNA information provided by mirtarbase database.
281
miRTarBase ID miRNA Experiments Reference
MIRT438491 hsa-miR-139-5p Luciferase reporter assay 24158791
MIRT438491 hsa-miR-139-5p Luciferase reporter assay 24158791
MIRT734079 hsa-miR-181a-2-3p Luciferase reporter assay 31880394
MIRT1513020 hsa-miR-106a CLIP-seq
MIRT1513021 hsa-miR-106b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MSX1 Unknown 22078940
XBP1 Unknown 22078940
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12741956
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609185 18513 ENSG00000178764
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6X8
Protein name Zinc fingers and homeoboxes protein 2 (Alpha-fetoprotein regulator 1) (AFP regulator 1) (Regulator of AFP) (Zinc finger and homeodomain protein 2)
Protein function Acts as a transcriptional repressor (PubMed:12741956). Represses the promoter activity of the CDC25C gene stimulated by NFYA (PubMed:12741956). May play a role in retinal development where it regulates the composition of bipolar cell populations
PDB 2DMP , 3NAU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18387 zf_C2H2_ZHX 106 158 Zinc-fingers and homeoboxes C2H2 finger domain Domain
PF00046 Homeodomain 444 496 Homeodomain Domain
PF00046 Homeodomain 534 584 Homeodomain Domain
PF00046 Homeodomain 633 685 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Expressed in podocytes. {ECO:0000269|PubMed:12741956, ECO:0000269|PubMed:17056598}.
Sequence
MASKRKSTTPCMVRTSQVVEQDVPEEVDRAKEKGIGTPQPDVAKDSWAAELENSSKENEV
IEVKSMGESQSKKLQGGYECKYCPYSTQNLNEFTEHVDMQHPNVILNPLYVCAECNFTTK
KYDSLSDHNSKFHPGEANFKLKLIKRNNQTVLEQSIET
TNHVVSITTSGPGTGDSDSGIS
VSKTPIMKPGKPKADAKKVPKKPEEITPENHVEGTARLVTDTAEILSRLGGVELLQDTLG
HVMPSVQLPPNINLVPKVPVPLNTTKYNSALDTNATMINSFNKFPYPTQAELSWLTAASK
HPEEHIRIWFATQRLKHGISWSPEEVEEARKKMFNGTIQSVPPTITVLPAQLAPTKVTQP
ILQTALPCQILGQTSLVLTQVTSGSTTVSCSPITLAVAGVTNHGQKRPLVTPQAAPEPKR
PHIAQVPEPPPKVANPPLTPASDRKKTKEQIAHLKASFLQSQFPDDAEVYRLIEVTGLAR
SEIKKWFSDHRYRCQR
GIVHITSESLAKDQLAIAASRHGRTYHAYPDFAPQKFKEKTQGQ
VKILEDSFLKSSFPTQAELDRLRVETKLSRREIDSWFSERRKLR
DSMEQAVLDSMGSGKK
GQDVGAPNGALSRLDQLSGAQLTSSLPSPSPAIAKSQEQVHLLRSTFARTQWPTPQEYDQ
LAAKTGLVRTEIVRWFKENRCLLKT
GTVKWMEQYQHQPMADDHGYDAVARKATKPMAESP
KNGGDVVPQYYKDPKKLCEEDLEKLVTRVKVGSEPAKDCLPAKPSEATSDRSEGSSRDGQ
GSDENEESSVVDYVEVTVGEEDAISDRSDSWSQAAAEGVSELAESDSDCVPAEAGQA
Sequence length 837
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Hirschsprung disease, susceptibility to, 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 25640882
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 28236595
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 31430364
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15513360, 16598499, 1996309, 26997442
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27301828
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 21307665
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 21987443, 22078940, 26406991
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 17179987
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 27797976
★☆☆☆☆
Found in Text Mining only
Androgen Insensitivity Syndrome Androgen insensitivity syndrome Pubtator 35896920 Associate
★☆☆☆☆
Found in Text Mining only