Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	151651
Gene name	EF-hand domain family member B
Gene symbol	EFHB
Synonyms (NCBI Gene)	CFAP21
Chromosome	3
Chromosome location	3p24.3

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT711215	hsa-miR-4803	HITS-CLIP	19536157
MIRT711214	hsa-miR-618	HITS-CLIP	19536157
MIRT711213	hsa-miR-1255b-2-3p	HITS-CLIP	19536157
MIRT711212	hsa-miR-4680-5p	HITS-CLIP	19536157
MIRT711211	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT711210	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT2387225	hsa-miR-627	CLIP-seq
MIRT2387226	hsa-miR-924	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	30481768
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
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:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0032091	Process	Negative regulation of protein binding	IMP	30481768
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061891	Function	Calcium ion sensor activity	IMP	30481768
GO:0070884	Process	Regulation of calcineurin-NFAT signaling cascade	IMP	30481768
GO:0160111	Component	Axonemal A tubule inner sheath	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS
GO:2001256	Process	Regulation of store-operated calcium entry	IMP	30481768

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q8N7U6

Protein name

EF-hand domain-containing family member B (Cilia- and flagella-associated protein 21)

Protein function

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 u

PDB

7UNG , 8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13499	EF-hand_7	563 → 627	EF-hand domain pair	Domain

Tissue specificity

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

Sequence

MNMEIGHPHEGKDDLGDKRVIMGTKFPMELGIRVGLGKEDSRCGESPVVSNKCEGRMAPP
ETKFPLSKGLEMGLERQNISRTVMQRGSLGVDSVSASQGTKPSLLPGRMGLENESLLAGY
THERIIQPPLGRVCGSSQAAGSRRAPLASGPEGVEELVGKPAFVMEPRQEMEKESTCVLM
KPNTEIKLPVEVDIGLTQAEGPDETKNTEPQMGLVIEPPQCQFAQQHEQRKEAGNIESGV
EPPDRIRPIYSGKFFDRTPCWPSAGKVIPVGYRVATCLTEKLPRLITPPEAKKYFNFRYP
PAGVERVFYGRANDPQIAPYLTHGIRSKISVLANTLINPQPITTFQQKIKDKKESIYLSN
RRAPLGKSHDQAPGLPKGMDTTNTTFGTAVIKEYSAKDVVNPPKSYEEVFKEGNEGHDLY
VVSHNDYYAGEAKNRKYNPSSFHRCSVYGVPTPHFNDGRAMAKSLYWLHELQMKRGAKFV
SKRADDFKEKFQHKLGRVLDPIAETMNVPPDCTFGACLRPEEYGVGDLIHNRLPDEYLRG
KDRQRALIAAVRHHLKKVNYQKFDTLLAAFRHYDKKGDGMIDKDELQEACDQANLSLDDK
LLDQLFDYCDVDNDGFINYLEFANFLNWKDKMLLKEYEERVIIKGRKPDCVNPTEANVEE
PEQTLLIKPEDIVLKEAGSTEKTLRTLLRPSDKVSNYYKTTSSEINAIVGAIPSTCYPIC
GVPTIRSDIPAPRIRRISDRTNYGEEGSAYSLLYPTIFARKGVFERDFFKTRSKEEIAEI
LCNIGVKLSDEEFENVWNLASKKHHRGEVCVENIRNVLDELRHADRIKCKTLM

Sequence length

833

Interactions

View interactions

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18927125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19956106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36896575	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EFHB (EF-hand domain family member B)