CIROZ (ciliated left-right organizer protein containing ZP-N domains)

Gene

• Entrez ID: 148345
• Gene name: Ciliated left-right organizer protein containing ZP-N domains
• Gene symbol: CIROZ
• Synonyms (NCBI Gene): C1orf127, HTX14
• Chromosome: 1
• Chromosome location: 1p36.22

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1948905	hsa-miR-1207-3p	CLIP-seq
MIRT1948906	hsa-miR-3144-5p	CLIP-seq
MIRT1948907	hsa-miR-3180-5p	CLIP-seq
MIRT1948908	hsa-miR-3191	CLIP-seq
MIRT1948909	hsa-miR-4652-5p	CLIP-seq
MIRT1948910	hsa-miR-4667-5p	CLIP-seq
MIRT1948911	hsa-miR-4685-5p	CLIP-seq
MIRT1948912	hsa-miR-4700-5p	CLIP-seq
MIRT1948913	hsa-miR-661	CLIP-seq
MIRT2186868	hsa-miR-3174	CLIP-seq
MIRT1948907	hsa-miR-3180-5p	CLIP-seq
MIRT1948911	hsa-miR-4685-5p	CLIP-seq
MIRT2186869	hsa-miR-4765	CLIP-seq
MIRT2464946	hsa-miR-4497	CLIP-seq
MIRT2464947	hsa-miR-4767	CLIP-seq
MIRT2464948	hsa-miR-578	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IDA	39753129
GO:0005576	Component	Extracellular region	IEA
GO:0061966	Process	Establishment of left/right asymmetry	IMP	39753129

Other IDs

• MIM: 619700
• HGNC: 26730
• e!Ensembl: ENSG00000175262

Protein

• UniProt ID: Q8N9H9
• Protein name: Ciliated left-right organizer ZP-N domains-containing protein (Ciliated left-right organizer protein containing ZP-N domains)
• Protein function: Plays a role in left-right patterning process.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15094	DUF4556	2 → 198		Family

• Sequence:

  MKCPMLRSRLGQESVHCGPMFIQVSRPLPLWRDNRQTPWLLSLRGELVASLEDASLMGLY
  VDMNATTVTVQSPRQGLLQRWEVSGGQQALPGVSFQPESEVLVHIPKQRLGLVKRGSYIE
  ETLSLRFLRVHQSNIFMVTENKDFVVVSIPAAGVLQVQRCQEVGGTPGTQAFYRVDLSLE
  FAEMAAPVLWTVESFFQCVGSGTESPASTAALRTTPSPPSPGPETPPAGVPPAASSQVWA
  AGPAAQEWLSRDLLHRPSDALAKKGLGPFLQTAKPARRGQTSASILPRVVQAQRGPQPPP
  GEAGIPGHPTPPATLPSEPVEGVQASPWRPRPVLPTHPALTLPVSSDASSPSPPAPRPER
  PESLLVSGPSVTLTEGLGTVRPEQDPAKSPGSPLLLRGLSSGDVAAPEPIMGEPGQASEE
  FQPLARPWRATLAAEELVSHRSPGEPQETCSGTEVERPRQTGPGLPREGARGHMDLSSSE
  PSQDIEGPGLSILPARDATFSTPSVRQPDPSAWLSSGPELTGMPRVRLAAPLAVLPMEPL
  PPEPVRPAALLTPEASSVGGPDQARYLESAPGWPVGQEEWGVAHTSSPPSTQTLSLWAPT
  GVLLPSLVELEYPFQAGRGASLQQELTEPTLALSAESHRPPELQDSVEGLSERPSR

• Sequence length: 656

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
EWING SARCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTAXY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTAXY, VISCERAL, 14, AUTOSOMAL	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISCERAL HETEROTAXY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	22693459, 27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	22693459, 27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	22693459, 27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	22693459, 27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASDB_DG	22693459		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	22693459, 27182965, 29146897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewings sarcoma	Ewing sarcoma	GWASDB_DG	22327514		★☆☆☆☆ Found in Text Mining only