POMZP3 (POM121 and ZP3 fusion)

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

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:0003674	Function	Molecular_function	ND
GO:0005654	Component	Nucleoplasm	IDA
GO:0007339	Process	Binding of sperm to zona pellucida	IBA	21873635
GO:0008150	Process	Biological_process	ND
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031965	Component	Nuclear membrane	IDA
GO:0032190	Function	Acrosin binding	IBA	21873635
GO:0035803	Process	Egg coat formation	IBA	21873635
GO:2000344	Process	Positive regulation of acrosome reaction	IBA	21873635

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

Causal
Disease term	Disease name	dbSNP ID	References
Cone dystrophy	Cone Dystrophy	rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709, rs139027297, rs140451304, rs1238632042, rs117522010, rs1023522305, rs531851447, rs1271498710, rs1554186441, rs757622521, rs1028838062, rs1568725951, rs1564801134, rs1557918619, rs1582323732, rs1589705946, rs1589693002, rs1659954489, rs1660447204, rs1660845802, rs1692799480, rs1800113541, rs138924201, rs748084580, rs1883036406, rs1905007623, rs1589690942, rs1589704707, rs1768016995	28041643