EFHC2 (EF-hand domain containing 2)

Gene

• Entrez ID: 80258
• Gene name: EF-hand domain containing 2
• Gene symbol: EFHC2
• Synonyms (NCBI Gene): MRX74, dJ1158H2.1
• Chromosome: X
• Chromosome location: Xp11.3
• Summary: This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 152

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT953846	hsa-miR-3115	CLIP-seq
MIRT953847	hsa-miR-4802-3p	CLIP-seq
MIRT953848	hsa-miR-629	CLIP-seq
MIRT2217186	hsa-miR-145	CLIP-seq
MIRT2217187	hsa-miR-1825	CLIP-seq
MIRT2217188	hsa-miR-199a-5p	CLIP-seq
MIRT2217189	hsa-miR-199b-5p	CLIP-seq
MIRT2217190	hsa-miR-3180-5p	CLIP-seq
MIRT2217191	hsa-miR-4302	CLIP-seq
MIRT2217192	hsa-miR-4307	CLIP-seq
MIRT2679822	hsa-miR-1246	CLIP-seq
MIRT2679823	hsa-miR-1273g	CLIP-seq
MIRT2679824	hsa-miR-1290	CLIP-seq
MIRT2679825	hsa-miR-299-5p	CLIP-seq
MIRT2679826	hsa-miR-3167	CLIP-seq
MIRT2679827	hsa-miR-587	CLIP-seq
MIRT2679828	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 29892012, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	IEA
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IEA
GO:0010975	Process	Regulation of neuron projection development	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA	29257953
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 300817
• HGNC: 26233
• e!Ensembl: ENSG00000183690

Protein

• UniProt ID: Q5JST6
• Protein name: EF-hand domain-containing family member C2
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
• PDB: 2Z13, 2Z14, 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06565	DUF1126	68 → 174	DUF1126 PH-like domain	Domain
  PF06565	DUF1126	219 → 319	DUF1126 PH-like domain	Domain
  PF06565	DUF1126	310 → 360	DUF1126 PH-like domain	Domain
  PF06565	DUF1126	419 → 530	DUF1126 PH-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in airway epithelial cells. {ECO:0000269|PubMed:36191189}.
• Sequence:

  MALPLLPGNSFNRNVGKEKFHKSQHWGFCNNVMMLVSDEKPGIGGEPLLGQKIKPKCSIY
  PKGDGSDVPSWVAFDKQVLSFDAYLEEEVLDKSQTNYRIRYYKIYFYPEDDTIQVNEPEV
  KNSGLLQGTSIRRHRITLPPPDEDQFYTVYHFNVGTEVVFYGRTFKIYDCDAFTRNFLRK
  IGVKVNPPVQCPEDPYMKIRREVVEHVEPLRPYESLDTLKQFLQYHGKILCFFCLWDDSV
  SMFGDRRELILHYFLCDDTIEIKELLPHSSGRDALKMFLRRSKLPKNCPPRVYQPGQITD
  RAVLNSYGDFIKNQADGYLFDRYKLGKVDQEFYKDSDLSLGVTINVWGRKVLLYDCDEFT
  KSYYKSKYGIENFTSVSCKPPSPPPKIERKFPPYNGFGSEEDSLRNCIDLKPTPHRRNFK
  KFMEKDSYGSKSNILRFFAKLVTDKCVDLDRMFVISYYLGDDTISVFEPIERNSGIAGGM
  FLKRSRVKKPGQEVFKSELSEYIKAEELYIGVTVNVNGYLFRLLNADEYTLNYMEQNTDK
  YPFSNLKLALQKLKQEEGKSRELKQVFKAADSKHTNMVDYNTFRDILMSLTVGNLAEQEF
  VTIARHYRVPEGTCSDMDFLIALAHEKFKKNMFENFDTFIYSCVYEDREKKNVLPTKDIK
  RLCKSSRLPLSDDLLESLLSRFEDSEKQIDYKSFFSALNWRKNPVPELQPASYLKERCED
  VWLGMPSPIPAKYIDYWTFLKDAFGLEEE

• Sequence length: 749

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
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ornithine carbamoyltransferase deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	26958022	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16112844, 30349665		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	16112844		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	17431911		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	17431911		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	19429002		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30349665		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30349665		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	17164267, 17948898, 19429002, 26107779, 30349665		★☆☆☆☆ Found in Text Mining only