EFCAB14

Summary

EFCAB14 (EF-hand calcium binding domain 14, HGNC:29051) is a protein-coding gene on chromosome 1p33, encoding EF-hand calcium-binding domain-containing protein 14 (O75071).

Predicted to enable calcium ion binding activity. Predicted to be located in membrane.

Source: NCBI Gene 9813 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 83 total
• MANE Select transcript: NM_014774

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29051
Approved symbol	EFCAB14
Name	EF-hand calcium binding domain 14
Location	1p33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000159658
Ensembl biotype	protein_coding
OMIM	619559
Entrez	9813

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 retained_intron, 5 protein_coding, 2 nonsense_mediated_decay

ENST00000371933, ENST00000459797, ENST00000479745, ENST00000481623, ENST00000484461, ENST00000487741, ENST00000672422, ENST00000674263, ENST00000674268, ENST00000674302, ENST00000674331, ENST00000674415, ENST00000674435, ENST00000674495

RefSeq mRNA: 1 — MANE Select: NM_014774 NM_014774

CCDS: CCDS30706

Canonical transcript exons

ENST00000371933 — 11 exons

Exon	Start	End
ENSE00001046983	46716295	46716443
ENSE00001046993	46696551	46696649
ENSE00001046995	46707906	46708051
ENSE00001456485	46675159	46678636
ENSE00001456489	46717903	46719114
ENSE00003537237	46686784	46686870
ENSE00003554464	46689587	46689691
ENSE00003567050	46688353	46688544
ENSE00003593577	46691827	46691937
ENSE00003647218	46683300	46683425
ENSE00003652855	46684491	46684602

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 98.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.0218 / max 237.5509, expressed in 1812 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12204	20.9788	1812
12202	0.4197	208
201500	0.2184	102
12199	0.2012	65
12203	0.1462	52
12200	0.0476	13
12201	0.0099	1

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cardia of stomach	UBERON:0001162	98.70	gold quality
pylorus	UBERON:0001166	98.33	gold quality
medial globus pallidus	UBERON:0002477	98.24	gold quality
skin of hip	UBERON:0001554	98.21	gold quality
inferior vagus X ganglion	UBERON:0005363	98.19	gold quality
globus pallidus	UBERON:0001875	98.13	gold quality
renal medulla	UBERON:0000362	98.06	gold quality
medulla oblongata	UBERON:0001896	98.01	gold quality
vena cava	UBERON:0004087	97.94	gold quality
inferior olivary complex	UBERON:0002127	97.90	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	97.83	gold quality
corpus callosum	UBERON:0002336	97.81	gold quality
urethra	UBERON:0000057	97.75	gold quality
subthalamic nucleus	UBERON:0001906	97.75	gold quality
corpus epididymis	UBERON:0004359	97.74	gold quality
visceral pleura	UBERON:0002401	97.70	gold quality
upper arm skin	UBERON:0004263	97.70	gold quality
upper leg skin	UBERON:0004262	97.64	gold quality
cranial nerve II	UBERON:0000941	97.63	gold quality
mammary duct	UBERON:0001765	97.63	gold quality
seminal vesicle	UBERON:0000998	97.59	gold quality
superior vestibular nucleus	UBERON:0007227	97.59	gold quality
superficial temporal artery	UBERON:0001614	97.58	gold quality
pancreatic ductal cell	CL:0002079	97.50	gold quality
nipple	UBERON:0002030	97.47	gold quality
pericardium	UBERON:0002407	97.44	gold quality
trigeminal ganglion	UBERON:0001675	97.42	gold quality
epithelium of mammary gland	UBERON:0003244	97.41	gold quality
saphenous vein	UBERON:0007318	97.41	gold quality
pleura	UBERON:0000977	97.27	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8271	yes	14.82
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

165 targeting EFCAB14, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-144-3P	99.94	73.98	2698

Literature-anchored findings (GeneRIF, showing 1)

• occurrence of an unusual TG 3’ splice site in intron 1 (PMID:17672918)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Efcab14	ENSMUSG00000034210
rattus_norvegicus	Efcab14	ENSRNOG00000010091

Protein

Protein identifiers

EF-hand calcium-binding domain-containing protein 14 — O75071 (reviewed: O75071)

All UniProt accessions (7): O75071, A0A6I8PIF8, A0A6I8PIP2, A0A6I8PS42, A0A6I8PU78, A0A804H3B5, S4R3Q1

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_055589* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR042352	EFCAB14	Family

UniProt features (15 total): binding site 5, domain 2, sequence variant 2, region of interest 2, compositionally biased region 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75071-F1	67.45	0.19

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 483; 488; 477; 479; 481

Post-translational modifications (1): 17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): TGCACTT_MIR519C_MIR519B_MIR519A, MORF_SNRP70, MORF_HDAC1, MORF_CTBP1, GENTILE_UV_HIGH_DOSE_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ACTTTAT_MIR1425P, MORF_PAPSS1, TGCCTTA_MIR124A, GENTILE_UV_RESPONSE_CLUSTER_D7, IIZUKA_LIVER_CANCER_PROGRESSION_G1_G2_DN, GCM_SIRT2, MORF_PRKAR1A, STEIN_ESRRA_TARGETS_DN, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D

GO Biological Process (0):

GO Molecular Function (2): calcium ion binding (GO:0005509), metal ion binding (GO:0046872)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metal ion binding	1
cation binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

346 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EFCAB14	TEX38	Q6PEX7	608
EFCAB14	ZNF782	Q6ZMW2	480
EFCAB14	TSTD2	Q5T7W7	448
EFCAB14	TTC9C	Q8N5M4	438
EFCAB14	UNC80	Q8N2C7	436
EFCAB14	CACUL1	Q86Y37	417
EFCAB14	ATPAF1	Q5TC12	395
EFCAB14	TBC1D13	Q9NVG8	379
EFCAB14	TCP11L2	Q8N4U5	378
EFCAB14	C1orf174	Q8IYL3	377
EFCAB14	NSUN4	Q96CB9	377
EFCAB14	RBM26	Q5T8P6	375
EFCAB14	ZNF862	O60290	370
EFCAB14	WDR13	Q9H1Z4	350
EFCAB14	DMBX1	Q8NFW5	348

IntAct

19 interactions, top by confidence:

A	B	Type	Score
ARO10	EFCAB14	psi-mi:“MI:0915”(physical association)	0.560
EFCAB14	ARO10	psi-mi:“MI:0915”(physical association)	0.560
GRAMD2B	EFCAB14	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
CSNK2A1	MYO1B	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
CSNK2A2	CNOT1	psi-mi:“MI:0914”(association)	0.350
CSNK2A1	EIF3F	psi-mi:“MI:0914”(association)	0.350
CSNK2A1	RPS3A	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	VWA8	psi-mi:“MI:0914”(association)	0.350
CSNK2B	OSBPL8	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	SAP18	psi-mi:“MI:0914”(association)	0.350
recR	EFCAB14	psi-mi:“MI:0915”(physical association)	0.000
EFCAB14	rnr	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Two-hybrid), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS), EFCAB14 (Affinity Capture-MS)

ESM2 similar proteins: A2VE00, A2VE53, B0F9L7, F4HVS6, O75071, O82259, Q10MI0, Q28GJ0, Q2KJD6, Q2TLY2, Q2TLZ1, Q2TLZ2, Q2TLZ3, Q2TLZ4, Q2TLZ5, Q3SYZ9, Q4V7D3, Q502L1, Q561Q8, Q561X3, Q5EAJ6, Q5FVH8, Q5M8Y7, Q5R6R3, Q5ZM60, Q640L3, Q641E3, Q6NPP4, Q70UQ0, Q7TQE6, Q802A9, Q8BGQ6, Q8BIS8, Q8GSA7, Q8GYU3, Q8N5G2, Q8TEQ0, Q96EE4, Q9CQA5, Q9DBZ1

Diamond homologs: O75071, Q8BGQ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

83 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1829 predictions. Top by Δscore:

Variant	Effect	Δscore
1:46678484:G:C	donor_gain	1.0000
1:46683296:TTACC:T	donor_loss	1.0000
1:46683297:TACC:T	donor_loss	1.0000
1:46683298:ACCTT:A	donor_loss	1.0000
1:46683299:C:A	donor_loss	1.0000
1:46683423:GCTCT:G	acceptor_loss	1.0000
1:46683424:CT:C	acceptor_gain	1.0000
1:46683424:CTCT:C	acceptor_loss	1.0000
1:46683425:TCTGT:T	acceptor_loss	1.0000
1:46683426:C:A	acceptor_loss	1.0000
1:46683426:C:CC	acceptor_gain	1.0000
1:46683427:T:A	acceptor_loss	1.0000
1:46686868:CATCT:C	acceptor_gain	1.0000
1:46686872:T:C	acceptor_gain	1.0000
1:46688347:GCTTA:G	donor_loss	1.0000
1:46688348:CTTA:C	donor_loss	1.0000
1:46688349:TTA:T	donor_loss	1.0000
1:46688350:TAC:T	donor_loss	1.0000
1:46688351:ACCA:A	donor_loss	1.0000
1:46688352:CCATG:C	donor_gain	1.0000
1:46688541:TATC:T	acceptor_gain	1.0000
1:46688543:TC:T	acceptor_gain	1.0000
1:46688544:CC:C	acceptor_gain	1.0000
1:46688545:C:CC	acceptor_gain	1.0000
1:46689602:A:AC	donor_gain	1.0000
1:46689603:C:CC	donor_gain	1.0000
1:46689690:TT:T	acceptor_gain	1.0000
1:46689691:TC:T	acceptor_loss	1.0000
1:46689692:C:CA	acceptor_loss	1.0000
1:46689692:C:CC	acceptor_gain	1.0000

AlphaMissense

3271 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:46718068:A:G	L7P	0.998
1:46718068:A:T	L7H	0.998
1:46718078:G:T	R4S	0.998
1:46716379:A:G	C84R	0.997
1:46718059:A:G	L10S	0.997
1:46716360:C:T	G90D	0.995
1:46716367:A:G	C88R	0.995
1:46716381:G:T	A83D	0.995
1:46696618:A:G	L171P	0.994
1:46716361:C:G	G90R	0.994
1:46716393:A:T	V79D	0.994
1:46716369:G:T	A87D	0.993
1:46716384:G:T	A82D	0.993
1:46718063:C:G	A9P	0.993
1:46716336:A:G	L98P	0.992
1:46718059:A:C	L10W	0.992
1:46718077:C:G	R4P	0.992
1:46716324:A:G	L102P	0.991
1:46716375:A:T	V85D	0.991
1:46716403:A:G	C76R	0.991
1:46718082:T:A	K2N	0.990
1:46718082:T:G	K2N	0.990
1:46718078:G:A	R4C	0.988
1:46696558:A:G	L191P	0.987
1:46716352:A:G	W93R	0.987
1:46716352:A:T	W93R	0.987
1:46716363:A:T	V89D	0.987
1:46718083:T:A	K2I	0.987
1:46716387:A:T	L81H	0.986
1:46718079:C:A	K3N	0.986

dbSNP variants (sampled 300 via entrez): RS1000006868 (1:46712561 T>C), RS1000033855 (1:46720359 C>T), RS1000113893 (1:46713240 A>G), RS1000267119 (1:46676706 G>C), RS1000317861 (1:46720196 A>G), RS1000425209 (1:46683841 A>G), RS1000501931 (1:46679427 C>A,T), RS1000612258 (1:46719162 C>T), RS1000777638 (1:46688194 G>C), RS1000864542 (1:46693628 C>T), RS1000915263 (1:46689812 G>T), RS1001131406 (1:46700748 A>G), RS1001295162 (1:46701110 C>A), RS1001299181 (1:46696235 G>A), RS1001330004 (1:46686360 C>T)

Disease associations

OMIM: gene MIM:619559 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001325_7	Response to hepatitis C treatment	1.000000e-06
GCST005359_5	Disease progression in age-related macular degeneration	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008336	disease progression measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression	3
Benzo(a)pyrene	increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
glycidyl methacrylate	decreases expression	1
sodium arsenite	affects expression	1
2-bromopalmitate	increases abundance, increases palmitoylation, decreases reaction	1
ochratoxin A	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Cadmium	increases palmitoylation, decreases reaction, increases abundance	1
Selenium	increases expression	1
Dronabinol	increases expression	1
Thimerosal	decreases expression	1
Vitamin E	increases expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.