Free for academic non-profit institutions. Other users need a Commercial license
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 associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
EFHC2 (EF-Hand Domain Containing 2) is a Protein Coding gene. Diseases associated with EFHC2 include Turner Syndrome and Norrie Disease. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHC1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ044342 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 654.9 | -0.4 | -395 | 2.5 | RFX1 LEF1 PKNOX1 SOX6 FOXJ2 TCF12 EP300 GTF2E2 ZNF766 EGR1 | EFHC2 RF00017-8349 RF00017-8348 FUNDC1 | |
GH0XJ044343 | Enhancer | 0.2 | Ensembl | 600.7 | +1.4 | 1371 | 0.2 | EFHC2 RF00017-8349 RF00017-8350 RF00017-8348 NDP | ||
GH0XJ044331 | Enhancer | 0.5 | Ensembl ENCODE | 42.9 | +11.1 | 11136 | 1.6 | BHLHE40 NANOG | EFHC2 piR-57460-717 RF00017-8349 RF00017-8348 RRM2P3 NDP | |
GH0XJ044349 | Enhancer | 0.3 | Ensembl ENCODE | 51.4 | -5.8 | -5795 | 2.1 | EFHC2 RF00017-8349 piR-57460-718 RF00017-8348 FUNDC1 | ||
GH0XJ044312 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 10.7 | +29.4 | 29426 | 4.1 | LEF1 IKZF1 JUND MTA2 PHF21A PKNOX1 ZNF24 REST BRD9 DPF2 | EFHC2 KDM6A MAOB RRM2P3 RF00017-8348 piR-57460-717 NDP |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0043014 | alpha-tubulin binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005874 | colocalizes_with microtubule | IBA | 21873635 |
GO:0005930 | axoneme | IBA | 21873635 |
GO:0072686 | mitotic spindle | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000281 | mitotic cytokinesis | IBA | 21873635 |
GO:0007052 | mitotic spindle organization | IBA | 21873635 |
GO:0010975 | regulation of neuron projection development | IBA | 21873635 |
GO:0060285 | cilium-dependent cell motility | IBA | 21873635 |
GO:1990830 | cellular response to leukemia inhibitory factor | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EFHC2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EFHC2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EFHC2 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Efhc2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Efhc2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | EFHC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EFHC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EFHC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | efhc2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | efhc2 30 31 |
|
OneToOne | |
Dr.13820 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Efhc1.2 30 31 |
|
OneToMany | |
Efhc1.1 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003339 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3980 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1550 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
787518 | Benign: not provided | 44,312,629(-) | C/T | MISSENSE_VARIANT | |
rs201560745 | Uncertain Significance: not provided | 44,261,277(-) | C/T | MISSENSE_VARIANT | |
rs3747354 | Benign: not specified. - | 44,232,582(-) | C/Gp.Glu507Gln | MISSENSE_VARIANT | |
rs17146914 | - | p.Asn31Ser | |||
rs2208592 | - | p.Ser430Tyr |
Disorder | Aliases | PubMed IDs |
---|---|---|
turner syndrome |
|
|
norrie disease |
|
|
leukocoria |
|
|
adolescence-adult electroclinical syndrome |
|
|
epilepsy |
|
|