Gene Gene information from NCBI Gene database.
Entrez ID 57594
Gene name Homeobox and leucine zipper encoding
Gene symbol HOMEZ
Synonyms (NCBI Gene)
KIAA1443
Chromosome 14
Chromosome location 14q11.2
miRNA miRNA information provided by mirtarbase database.
275
miRTarBase ID miRNA Experiments Reference
MIRT713864 hsa-miR-208a-5p HITS-CLIP 19536157
MIRT713863 hsa-miR-208b-5p HITS-CLIP 19536157
MIRT713862 hsa-miR-3185 HITS-CLIP 19536157
MIRT713864 hsa-miR-208a-5p HITS-CLIP 19536157
MIRT713863 hsa-miR-208b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 25416956, 26871637, 36217029
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608119 20164 ENSG00000290292
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IX15
Protein name Homeobox and leucine zipper protein Homez (Homeodomain leucine zipper-containing factor)
Protein function May function as a transcriptional regulator.
PDB 2ECC , 2YS9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05920 Homeobox_KN 69 109 Homeobox KN domain Family
PF11569 Homez 453 509 Homeodomain leucine-zipper encoding, Homez Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Strongly expressed in adult testis and kidney as well as fetal lung and kidney. {ECO:0000269|PubMed:12925734}.
Sequence
MVRGWEPPPGLDCAISEGHKSEGTMPPNKEASGLSSSPAGLICLPPISEELQLVWTQAAQ
TSELDSNEHLLKTFSYFPYPSLADIALLCLRYGLQMEKVKTWFMAQRLRCGISWSSEEIE
ETRARVVYRRDQLHFKSLLSFTHHAGRPPEEVPPPPVPAPEQVGIGIGPPTLSKPTQTKG
LKVEPEEPSQMPPLPQSHQKLKESLMTPGSGAFPYQSDFWQHLQSSGLSKEQAGRGPNQS
HGIGTASWNHSTTVPQPQARDKPPPIALIASSCKEESASSVTPSSSSTSSSFQVLANGAT
AASKPLQPLGCVPQSVSPSEQALPPHLEPAWPQGLRHNSVPGRVGPTEYLSPDMQRQRKT
KRKTKEQLAILKSFFLQCQWARREDYQKLEQITGLPRPEIIQWFGDTRYALKHGQLKWFR
DNAVPGAPSFQDPAIPTPPPSTRSLNERAETPPLPIPPPPPDIQPLERYWAAHQQLRETD
IPQLSQASRLSTQQVLDWFDSRLPQPAEV
VVCLDEEEEEEEEELPEDDEEEEEEEEEDDD
DDDDDVIIQD
Sequence length 550
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
BRONCHIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRONCHITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA 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
Coronary heart disease Coronary Heart Disease BEFREE 20422016, 23574532
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Congenital heart defect Pubtator 20422016, 23574532 Associate
★☆☆☆☆
Found in Text Mining only
Heart Septal Defects Ventricular Congenital heart septal defect Pubtator 23574532 Associate
★☆☆☆☆
Found in Text Mining only
Ventricular Septal Defects Ventricular septal defect BEFREE 23574532
★☆☆☆☆
Found in Text Mining only