POMZP3 (POM121 and ZP3 fusion)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 22932
• Gene name: POM121 and ZP3 fusion
• Gene symbol: POMZP3
• Synonyms (NCBI Gene): POM-ZP3
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3` exons from the ZP3 gene. The 5` end of this gene is similar to the

miRNA Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023382	hsa-miR-122-5p	Microarray	17612493
MIRT1250116	hsa-miR-140-3p	CLIP-seq
MIRT1250117	hsa-miR-3166	CLIP-seq
MIRT1250118	hsa-miR-4270	CLIP-seq
MIRT1250119	hsa-miR-4441	CLIP-seq
MIRT1250120	hsa-miR-4650-5p	CLIP-seq
MIRT1250121	hsa-miR-4755-3p	CLIP-seq
MIRT2073841	hsa-miR-3677-5p	CLIP-seq
MIRT2073842	hsa-miR-4758-3p	CLIP-seq
MIRT2073843	hsa-miR-663b	CLIP-seq
MIRT2073844	hsa-miR-665	CLIP-seq
MIRT2300687	hsa-miR-4274	CLIP-seq
MIRT2300688	hsa-miR-759	CLIP-seq
MIRT1250116	hsa-miR-140-3p	CLIP-seq
MIRT2597539	hsa-miR-15a	CLIP-seq
MIRT2597540	hsa-miR-15b	CLIP-seq
MIRT2597541	hsa-miR-16	CLIP-seq
MIRT2597542	hsa-miR-195	CLIP-seq
MIRT2597543	hsa-miR-29a	CLIP-seq
MIRT2597544	hsa-miR-29b	CLIP-seq
MIRT2597545	hsa-miR-29c	CLIP-seq
MIRT2597546	hsa-miR-3065-3p	CLIP-seq
MIRT2597547	hsa-miR-424	CLIP-seq
MIRT2597548	hsa-miR-4530	CLIP-seq
MIRT1250120	hsa-miR-4650-5p	CLIP-seq
MIRT1250121	hsa-miR-4755-3p	CLIP-seq
MIRT2597549	hsa-miR-497	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	IDA
GO:0031965	Component	Nuclear membrane	IDA

Other IDs

• MIM: 600587
• HGNC: 9203
• e!Ensembl: ENSG00000146707

Protein

• UniProt ID: Q6PJE2
• Protein name: POM121 and ZP3 fusion protein (POM-ZP3)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00100	Zona_pellucida	67 → 139	Zona pellucida-like domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in spleen, thymus, pancreas, testis, ovary, small intestine, colon and lymphocytes. {ECO:0000269|PubMed:7789967}.
• Sequence:

  MVCSPVTLRIAPPDRRFSRSAIPEQIISSTLSSPSSNAPDPCAKETVLSALKEKKKKRTV
  EEEDQIFLDGQENKRSCLVDGLTDASSAFKVPRPGPDTLQFTVDVFHFANDSRNMIYITC
  HLKVTLAEQDPDELNKACSFSKPSNSWFPVEGLADICQCCNKGDCGTPSHSRRQPRVVSQ
  WSTSASL

• Sequence length: 187

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	Reference	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cone Dystrophy	Cone Dystrophy	GENOMICS_ENGLAND_DG	28041643		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for POMZP3.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to POMZP3.