| 1348000 | EFHC2 | EF-hand domain containing 2 | 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: 15258581, 16112844) and that this gene may be as sociated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011] | X | 44147872 | 44343672 | Human | 67 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1557891 | Efhc2 | EF-hand domain (C-terminal) containing 2 | Involved in flagellated sperm motility. Acts upstream of or within cellular response to leukemia inhibitory factor. Is active in axonemal A tubule inner sheath and sperm flagellum. Orthologous to human EFHC2 (EF-hand domain containing 2). [provided by Alliance o f Genome Resources, Jul 2025] | X | 16998288 | 17186291 | Mouse | 66 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1563388 | Efhc2 | EF-hand domain containing 2 | INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); flagellated sperm motility (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Developmental Disorders (ortholog); FOUND IN axonemal A tubule inne r sheath (ortholog); axonemal microtubule (ortholog); ciliary basal body (ortholog); INTERACTS WITH 6-propyl-2-thiouracil; aflatoxin B1; bisphenol A | X | 7943603 | 8144073 | Rat | 63 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8896317 | Efhc2 | EF-hand domain containing 2 | INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); flagellated sperm motility (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Developmental Disorders (ortholog); FOUND IN axonemal A tubule inne r sheath (ortholog); axonemal microtubule (ortholog); ciliary basal body (ortholog) | NW_004955516 | 3867542 | 4036049 | Chinchilla | 15 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11890364 | EFHC2 | EF-hand domain containing 2 | ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); flagellated sperm motility (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Dev elopmental Disorders (ortholog); FOUND IN axonemal A tubule inner sheath (ortholog); sperm flagellum (ortholog) | X | 36598626 | 36793524 | Bonobo | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12303273 | EFHC2 | EF-hand domain containing 2 | INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Developmental Disorders (ortholog); FOUND IN axonemal A tubule inner sheath (inferred); axonemal microtubu le (inferred); ciliary basal body (inferred) | X | 38133964 | 38297285 | Dog | 18 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12470401 | Efhc2 | EF-hand domain containing 2 | INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Developmental Disorders (ortholog); FOUND IN axonemal A tubule inner sheath (inferred); axonemal microtubu le (inferred); ciliary basal body (inferred) | NW_004936502 | 10279094 | 10456994 | Squirrel | 20 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625983626 | Efhc2 | EF-hand domain containing 2 | INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); flagellated sperm motility (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Developmental Disorders (ortholog); FOUND IN axonemal A tubule inne r sheath (ortholog); axonemal microtubule (ortholog); ciliary basal body (ortholog) | | | | Black Rat | 15 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14133537 | EFHC2 | EF-hand domain containing 2 | INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Developmental Disorders (ortholog); FOUND IN axonemal A tubule inner sheath (inferred); axonemal microtubu le (inferred); ciliary basal body (inferred) | | | | Pig | 18 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155250466 | efhc2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 18346038 | EFHC2 | EF-hand domain containing 2 | ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); ASSOCIATED WITH autistic disorder (ortholog); ornithine carbamoyltransferase deficiency (ortholog); X-Linked Intellectual Developmental Disorders (ortholog); FOUND IN axonemal A tubule inner sheath (inferred); axonemal microtubule (inferred); ciliary basal body (inferred) | | | | Green Monkey | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155256623 | efhc2.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155251502 | efhc2.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 18901300 | LOC101701600 | EF-hand domain-containing family member C2 | INVOLVED IN flagellated sperm motility (inferred); regulation of neuron projection development (inferred); FOUND IN axonemal A tubule inner sheath (inferred); microtubule (inferred); sperm flagellum (inferred) | | | | Naked Mole-Rat | 5 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18929110 | LOC101722211 | EF-hand domain-containing family member C2 | INVOLVED IN flagellated sperm motility (inferred); regulation of neuron projection development (inferred); FOUND IN axonemal A tubule inner sheath (inferred); microtubule (inferred); sperm flagellum (inferred) | | | | Naked Mole-Rat | 5 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |