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	374786
Gene name	EF-hand calcium binding domain 5
Gene symbol	EFCAB5
Synonyms (NCBI Gene)	-
Chromosome	17
Chromosome location	17q11.2

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017332	hsa-miR-335-5p	Microarray	18185580
MIRT514669	hsa-miR-3922-5p	PAR-CLIP	23446348
MIRT514670	hsa-miR-1225-3p	PAR-CLIP	23446348
MIRT514668	hsa-miR-1233-3p	PAR-CLIP	23446348
MIRT514666	hsa-miR-6894-5p	PAR-CLIP	23446348
MIRT514667	hsa-miR-7106-5p	PAR-CLIP	23446348
MIRT514665	hsa-miR-561-5p	PAR-CLIP	23446348
MIRT514664	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514663	hsa-miR-1273e	PAR-CLIP	23446348
MIRT514669	hsa-miR-3922-5p	PAR-CLIP	23446348
MIRT514670	hsa-miR-1225-3p	PAR-CLIP	23446348
MIRT514668	hsa-miR-1233-3p	PAR-CLIP	23446348
MIRT514666	hsa-miR-6894-5p	PAR-CLIP	23446348
MIRT514667	hsa-miR-7106-5p	PAR-CLIP	23446348
MIRT514665	hsa-miR-561-5p	PAR-CLIP	23446348
MIRT514664	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514663	hsa-miR-1273e	PAR-CLIP	23446348
MIRT953633	hsa-miR-150	CLIP-seq
MIRT953634	hsa-miR-3197	CLIP-seq
MIRT953635	hsa-miR-4649-3p	CLIP-seq
MIRT953636	hsa-miR-4663	CLIP-seq
MIRT953637	hsa-miR-4713-5p	CLIP-seq
MIRT953638	hsa-miR-4728-3p	CLIP-seq
MIRT953639	hsa-miR-532-3p	CLIP-seq
MIRT953640	hsa-miR-129-5p	CLIP-seq
MIRT1982345	hsa-miR-3074-5p	CLIP-seq
MIRT1982346	hsa-miR-3545-3p	CLIP-seq
MIRT1982347	hsa-miR-4666-3p	CLIP-seq
MIRT1982348	hsa-miR-4680-5p	CLIP-seq
MIRT1982349	hsa-miR-4722-3p	CLIP-seq
MIRT1982350	hsa-miR-485-3p	CLIP-seq
MIRT1982351	hsa-miR-630	CLIP-seq
MIRT1982352	hsa-miR-664	CLIP-seq
MIRT2217148	hsa-miR-1233	CLIP-seq
MIRT2217149	hsa-miR-1321	CLIP-seq
MIRT2217150	hsa-miR-3122	CLIP-seq
MIRT2217151	hsa-miR-3173-3p	CLIP-seq
MIRT953634	hsa-miR-3197	CLIP-seq
MIRT2217152	hsa-miR-3689a-3p	CLIP-seq
MIRT2217153	hsa-miR-3689c	CLIP-seq
MIRT2217154	hsa-miR-3913-5p	CLIP-seq
MIRT2217155	hsa-miR-3942-5p	CLIP-seq
MIRT2217156	hsa-miR-3975	CLIP-seq
MIRT2217157	hsa-miR-4419a	CLIP-seq
MIRT2217158	hsa-miR-4428	CLIP-seq
MIRT2217159	hsa-miR-4510	CLIP-seq
MIRT2217160	hsa-miR-4521	CLIP-seq
MIRT953635	hsa-miR-4649-3p	CLIP-seq
MIRT953636	hsa-miR-4663	CLIP-seq
MIRT1982347	hsa-miR-4666-3p	CLIP-seq
MIRT2217161	hsa-miR-4703-5p	CLIP-seq
MIRT2217162	hsa-miR-4728-5p	CLIP-seq
MIRT2217163	hsa-miR-4739	CLIP-seq
MIRT2217164	hsa-miR-4756-5p	CLIP-seq
MIRT2217165	hsa-miR-4779	CLIP-seq
MIRT1982350	hsa-miR-485-3p	CLIP-seq
MIRT2217166	hsa-miR-510	CLIP-seq
MIRT2217167	hsa-miR-512-5p	CLIP-seq
MIRT2217168	hsa-miR-545	CLIP-seq
MIRT1982351	hsa-miR-630	CLIP-seq
MIRT1982352	hsa-miR-664	CLIP-seq
MIRT2521209	hsa-miR-1283	CLIP-seq
MIRT2521210	hsa-miR-1285	CLIP-seq
MIRT2521211	hsa-miR-3187-5p	CLIP-seq
MIRT2521212	hsa-miR-3194-5p	CLIP-seq
MIRT2521213	hsa-miR-3677-5p	CLIP-seq
MIRT2521214	hsa-miR-4435	CLIP-seq
MIRT2521215	hsa-miR-4684-5p	CLIP-seq
MIRT2521216	hsa-miR-4710	CLIP-seq
MIRT2521217	hsa-miR-4786-5p	CLIP-seq
MIRT2521218	hsa-miR-4792	CLIP-seq
MIRT2521219	hsa-miR-561	CLIP-seq
MIRT2521220	hsa-miR-593	CLIP-seq
MIRT2521221	hsa-miR-612	CLIP-seq
MIRT2521222	hsa-miR-661	CLIP-seq
MIRT2521223	hsa-miR-769-5p	CLIP-seq
MIRT2521209	hsa-miR-1283	CLIP-seq
MIRT2521210	hsa-miR-1285	CLIP-seq
MIRT2521211	hsa-miR-3187-5p	CLIP-seq
MIRT2521212	hsa-miR-3194-5p	CLIP-seq
MIRT2521213	hsa-miR-3677-5p	CLIP-seq
MIRT2521214	hsa-miR-4435	CLIP-seq
MIRT2521215	hsa-miR-4684-5p	CLIP-seq
MIRT2521216	hsa-miR-4710	CLIP-seq
MIRT2521217	hsa-miR-4786-5p	CLIP-seq
MIRT2521218	hsa-miR-4792	CLIP-seq
MIRT2521219	hsa-miR-561	CLIP-seq
MIRT2521220	hsa-miR-593	CLIP-seq
MIRT2521221	hsa-miR-612	CLIP-seq
MIRT2521222	hsa-miR-661	CLIP-seq
MIRT2521223	hsa-miR-769-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

A4FU69

Protein name

EF-hand calcium-binding domain-containing protein 5

Family and domains

Sequence

MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEI
KSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFE
RMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLP
TLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKE
VTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDP
KGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSE
MFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHS
SQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKT
QSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYI
ESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSR
ESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEII
SEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEE
VPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANL
IYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLT
SFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYT
YKEGMEKESMKKAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEF
LMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKIS
AHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQ
VQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRF
YQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLR
NMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTG
EALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREV
QRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVR
DILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIR
DHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGL
QEK

Sequence length

1503

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 (6)

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.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EFCAB5-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

EFCAB5 (EF-hand calcium binding domain 5)