HEPACAM2 (HEPACAM family member 2)

Gene

• Entrez ID: 253012
• Gene name: HEPACAM family member 2
• Gene symbol: HEPACAM2
• Synonyms (NCBI Gene): MIKI
• Chromosome: 7
• Chromosome location: 7q21.2
• Summary: This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes it

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1044215	hsa-miR-1267	CLIP-seq
MIRT1044216	hsa-miR-3617	CLIP-seq
MIRT1044217	hsa-miR-4289	CLIP-seq
MIRT1044218	hsa-miR-4652-3p	CLIP-seq
MIRT1044219	hsa-miR-4684-3p	CLIP-seq
MIRT1044220	hsa-miR-4728-3p	CLIP-seq
MIRT1044221	hsa-miR-548ac	CLIP-seq
MIRT1044222	hsa-miR-548d-3p	CLIP-seq
MIRT1044223	hsa-miR-548z	CLIP-seq
MIRT1044224	hsa-miR-641	CLIP-seq
MIRT1044225	hsa-miR-3978	CLIP-seq
MIRT1044226	hsa-miR-4662a-3p	CLIP-seq
MIRT1921637	hsa-miR-4310	CLIP-seq
MIRT1921638	hsa-miR-4713-5p	CLIP-seq
MIRT1921637	hsa-miR-4310	CLIP-seq
MIRT1921638	hsa-miR-4713-5p	CLIP-seq
MIRT2241902	hsa-miR-3692	CLIP-seq
MIRT2241903	hsa-miR-452	CLIP-seq
MIRT2241904	hsa-miR-4676-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	22864114
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	22864114
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	22864114
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IBA
GO:0005819	Component	Spindle	IDA	22864114
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007098	Process	Centrosome cycle	IBA
GO:0007098	Process	Centrosome cycle	IMP	22864114
GO:0016020	Component	Membrane	IEA
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	22864114
GO:0030496	Component	Midbody	IEA
GO:0051301	Process	Cell division	IEA
GO:0072686	Component	Mitotic spindle	IDA

Other IDs

• MIM: 614133
• HGNC: 27364
• e!Ensembl: ENSG00000188175

Protein

• UniProt ID: A8MVW5
• Protein name: HEPACAM family member 2 (Mitotic kinetics regulator)
• Protein function: Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt m
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13927	Ig_3	148 → 223		Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:19358830}.
• Sequence:

  MGQDAFMEPFGDTLGVFQCKIYLLLFGACSGLKVTVPSHTVHGVRGQALYLPVHYGFHTP
  ASDIQIIWLFERPHTMPKYLLGSVNKSVVPDLEYQHKFTMMPPNASLLINPLQFPDEGNY
  IVKVNIQGNGTLSASQKIQVTVDDPVTKPVVQIHPPSGAVEYVGNMTLTCHVEGGTRLAY
  QWLKNGRPVHTSSTYSFSPQNNTLHIAPVTKEDIGNYSCLVRNPVSEMESDIIMPIIYYG
  PYGLQVNSDKGLKVGEVFTVDLGEAILFDCSADSHPPNTYSWIRRTDNTTYIIKHGPRLE
  VASEKVAQKTMDYVCCAYNNITGRQDETHFTVIITSVGLEKLAQKGKSLSPLASITGISL
  FLIISMCLLFLWKKYQPYKVIKQKLEGRPETEYRKAQTFSGHEDALDDFGIYEFVAFPDV
  SGVSRIPSRSVPASDCVSGQDLHSTVYEVIQHIPAQQQDHPE

• Sequence length: 462

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
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29435733	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29659199, 29973580	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20425829		★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	19358830	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20425829		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	20425829		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22864114	Inhibit	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	19358830	Associate	★☆☆☆☆ Found in Text Mining only