CCIN (calicin)

Gene

• Entrez ID: 881
• Gene name: Calicin
• Gene symbol: CCIN
• Synonyms (NCBI Gene): BTBD20, KBTBD14, SPGF91
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq,

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042434	hsa-miR-424-5p	CLASH	23622248
MIRT870828	hsa-miR-150	CLIP-seq
MIRT870829	hsa-miR-3156-3p	CLIP-seq
MIRT870830	hsa-miR-3662	CLIP-seq
MIRT870831	hsa-miR-4301	CLIP-seq
MIRT870832	hsa-miR-4699-3p	CLIP-seq
MIRT870833	hsa-miR-4713-5p	CLIP-seq
MIRT870834	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053, 38573307
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IMP	36546111
GO:0030154	Process	Cell differentiation	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0033150	Component	Cytoskeletal calyx	IDA	36546111
GO:0033150	Component	Cytoskeletal calyx	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

Other IDs

• MIM: 603960
• HGNC: 1568
• e!Ensembl: ENSG00000185972

Protein

• UniProt ID: Q13939
• Protein name: Calicin
• Protein function: Required for both nuclear and acrosomal shaping during spermiogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	18 → 128	BTB/POZ domain	Domain
  PF07707	BACK	133 → 236	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	316 → 362	Kelch motif	Repeat
  PF01344	Kelch_1	364 → 410	Kelch motif	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis, in spermatozoa (at protein level). {ECO:0000269|PubMed:36527329, ECO:0000269|PubMed:36546111}.
• Sequence:

  MKLEFTEKNYNSFVLQNLNRQRKRKEYWDMALSVDNHVFFAHRNVLAAVSPLVRSLISSN
  DMKTADELFITIDTSYLSPVTVDQLLDYFYSGKVVISEQNVEELLRGAQYFNTPRLRVHC
  NDFLIKSICRANCLRYLFLAELFELKEVSDVAYSGIRDNFHYWASPEGSMHFMRCPPVIF
  GRLLRDENLHVLNEDQALSALINWVYFRKEDREKYFKKFFNYINLNAVSNKTLVFASNKL
  VGMENTSSHTTLIESVLMDRKQERPCSLLVYQRKGALLDSVVILGGQKAHGQFNDGVFAY
  IIQENLWMKLSDMPYRAAALSATSAGRYIYISGGTTEQISGLKTAWRYDMDDNSWTKLPD
  LPIGLVFHTMVTCGGTVYSVGGSIAPRRYVSNIYRYDERKEVWCLAGKMSIPMDGTAVIT
  KGDRHLYIVTGRCLVKGYISRVGVVDCFDTSTGDVVQCITFPIEFNHRPLLSFQQDNILC
  VHSHRQSVEINLQKVKASKTTTSVPVLPNSCPLDVSHAICSIGDSKVFVCGGVTTASDVQ
  TKDYTINPNAFLLDQKTGKWKTLAPPPEALDCPACCLAKLPCKILQRI

• Sequence length: 588

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 91	Pathogenic	rs750854950, rs746986151, rs762753747, rs779040908, rs1228645269	RCV004556847 RCV004556885 RCV004556886 RCV004556887 RCV004556888	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Infertility	Infertility	Pubtator	36896575	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36896575	Associate	★☆☆☆☆ Found in Text Mining only