EFHC1
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene
- Chromosome
- human chromosome 6[12]
- Cytogenetic location
- 6p12.2[15]
- Encodes
- EF-hand domain containing 1, EF-hand domain (C-terminal) containing 1, isoform CRA_a[9][10]
- Expressed in
- bronchial epithelial cell, right uterine tube, mucosa of paranasal sinus, sperm, olfactory zone of nasal mucosa, caput epididymis, Epithelium of choroid plexus, left testis, epithelium of nasopharynx, pituitary gland[16][17][18][19][20][21][22][23][24][25]
- Found in taxon
- Homo sapiens[11]
- Genetic association
- juvenile absence epilepsy[13]
- HomoloGene ID
- 10003[3]
- Strand orientation
- forward strand[14]
🏷️ Also known as
en RIB72
en dJ304B14.2
en EF-hand domain containing 1
en EFHC1
en EJM1
en POC9
ar EFHC١
pt Proteína 1 contendo o domínio da mão EF
🔖 Identifiers · 10
- Ensembl gene ID
- ENSG00000096093
- Ensembl transcript ID
- ENST00000538167, ENST00000371068, ENST00000480623, ENST00000481466, ENST00000491749, ENST00000635760, ENST00000635812, ENST00000635843, ENST00000635866, ENST00000635911, ENST00000635963, ENST00000635984, ENST00000635996, ENST00000636107, ENST00000636169, ENST00000636253, ENST00000636311, ENST00000636343, ENST00000636379, ENST00000636398, ENST00000636489, ENST00000636566, ENST00000636616, ENST00000636702, ENST00000636713, ENST00000636954, ENST00000637089, ENST00000637121, ENST00000637200, ENST00000637263, ENST00000637315, ENST00000637340, ENST00000637353, ENST00000637602, ENST00000637849, ENST00000637874, ENST00000637892, ENST00000638075, ENST00000638140
- Entrez Gene ID
- 114327
- Exact match
- identifiers.org
- Freebase ID
- /m/03g_s11
- HGNC ID
- 16406
- HGNC gene symbol
- EFHC1
- OMIM ID
- 608815
- RefSeq RNA ID
- NR_033327, NM_001172420, NM_018100
- UMLS CUI
- C1424254
🔗 Connections
Expressed in 2
Chromosome 1
Found in taxon 1
Instance of 1
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