NUCB1

Summary

NUCB1 (nucleobindin 1, HGNC:8043) is a protein-coding gene on chromosome 19q13.33, encoding Nucleobindin-1 (Q02818). Major calcium-binding protein of the Golgi which may have a role in calcium homeostasis.

This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events.

Source: NCBI Gene 4924 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_006184

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8043
Approved symbol	NUCB1
Name	nucleobindin 1
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	NUC, Calnuc
Ensembl gene	ENSG00000104805
Ensembl biotype	protein_coding
OMIM	601323
Entrez	4924

Gene structure

Transcript identifiers

Ensembl transcripts: 62 — 45 protein_coding, 8 retained_intron, 6 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000405315, ENST00000407032, ENST00000411700, ENST00000424608, ENST00000443560, ENST00000451312, ENST00000452087, ENST00000460125, ENST00000465524, ENST00000469291, ENST00000485798, ENST00000492367, ENST00000706745, ENST00000706746, ENST00000706748, ENST00000706749, ENST00000706750, ENST00000706751, ENST00000706752, ENST00000706753, ENST00000706754, ENST00000706755, ENST00000706756, ENST00000706757, ENST00000706758, ENST00000706759, ENST00000706760, ENST00000706761, ENST00000706762, ENST00000706763, ENST00000878477, ENST00000878478, ENST00000878479, ENST00000878480, ENST00000878481, ENST00000878482, ENST00000878483, ENST00000878484, ENST00000878485, ENST00000878486, ENST00000878487, ENST00000878488, ENST00000878489, ENST00000878490, ENST00000878491, ENST00000878492, ENST00000924619, ENST00000924620, ENST00000924621, ENST00000924622, ENST00000941791, ENST00000941792, ENST00000941793, ENST00000941794, ENST00000941795, ENST00000941796, ENST00000941797, ENST00000941798, ENST00000941799, ENST00000941800, ENST00000941801, ENST00000941802

RefSeq mRNA: 1 — MANE Select: NM_006184 NM_006184

CCDS: CCDS12740

Canonical transcript exons

ENST00000405315 — 13 exons

Exon	Start	End
ENSE00000718474	48919030	48919122
ENSE00001594857	48919194	48919286
ENSE00001682010	48900786	48900931
ENSE00001810698	48922318	48923372
ENSE00003475596	48913474	48913564
ENSE00003561819	48904347	48904454
ENSE00003573660	48918726	48918784
ENSE00003631650	48913011	48913196
ENSE00003996835	48921154	48921324
ENSE00003996843	48921827	48921932
ENSE00003996846	48911149	48911252
ENSE00003996847	48905753	48905885
ENSE00003996879	48900312	48900372

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 99.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.1833 / max 455.2450, expressed in 1827 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176877	55.1865	1826
176876	1.4730	999
176878	0.5238	254

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.06	gold quality
descending thoracic aorta	UBERON:0002345	99.02	gold quality
right lobe of liver	UBERON:0001114	99.00	gold quality
thoracic aorta	UBERON:0001515	98.99	gold quality
apex of heart	UBERON:0002098	98.99	gold quality
ascending aorta	UBERON:0001496	98.98	gold quality
left coronary artery	UBERON:0001626	98.83	gold quality
right coronary artery	UBERON:0001625	98.81	gold quality
right lobe of thyroid gland	UBERON:0001119	98.74	gold quality
aorta	UBERON:0000947	98.73	gold quality
right atrium auricular region	UBERON:0006631	98.71	gold quality
coronary artery	UBERON:0001621	98.70	gold quality
upper lobe of left lung	UBERON:0008952	98.69	gold quality
popliteal artery	UBERON:0002250	98.61	gold quality
tibial artery	UBERON:0007610	98.61	gold quality
left lobe of thyroid gland	UBERON:0001120	98.57	gold quality
lower esophagus	UBERON:0013473	98.54	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.54	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.49	gold quality
omental fat pad	UBERON:0010414	98.45	gold quality
body of stomach	UBERON:0001161	98.44	gold quality
upper lobe of lung	UBERON:0008948	98.39	gold quality
peritoneum	UBERON:0002358	98.38	gold quality
endocervix	UBERON:0000458	98.37	gold quality
gall bladder	UBERON:0002110	98.37	gold quality
metanephros cortex	UBERON:0010533	98.37	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.35	gold quality
left uterine tube	UBERON:0001303	98.33	gold quality
body of uterus	UBERON:0009853	98.33	gold quality
cardiac atrium	UBERON:0002081	98.30	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	207.53
E-ANND-3	yes	15.84
E-HCAD-13	yes	12.82
E-ENAD-27	no	7.69

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ATF6, MYC

miRNA regulators (miRDB)

32 targeting NUCB1, 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-4283	100.00	66.42	2097
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-375-3P	97.91	65.12	483
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-6085	96.57	64.11	621
HSA-MIR-3943	95.87	64.57	523
HSA-MIR-6813-5P	94.68	64.20	588
HSA-MIR-12115	94.19	66.37	738

Literature-anchored findings (GeneRIF, showing 18)

• Comparison between the structure of nucleobindin and other EF-hand proteins sheds light into the dual function of nucleobindin as Ca2+ storage (buffer) and Ca2+ sensor. (PMID:15287731)
• Calnuc protein may be a tumor-associated antigen (TAA) that induces autoantibody response in human cancers (PMID:17390015)
• NUCB1 is the first-identified, Golgi-localized negative feedback regulator in the ATF6-mediated branch of the UPR (PMID:17686766)
• results suggest that the functions of nucleobindins could be modulated by caspase-mediated cleavage in apoptosis (PMID:18154733)
• Proline residue at the +2-position (Pro(+2)) from the signal peptide cleavage site is the determinant of NUCB1 protein export from the ER and subsequent transport to the Golgi. (PMID:19656946)
• Nucleobindin 1 is a calcium-regulated guanine nucleotide dissociation inhibitor of G{alpha}i1. (PMID:20679342)
• structural basis for the properties of Calnuc and NUCB2 binding to Galpha subunits and its regulation by calcium ions. (PMID:21653697)
• postulate that the engineered forms of NUCB1 prevent hIAPP fibril formation by a mechanism where protofibril-like species are “capped” to prevent further fibril assembly and maturation (PMID:22542527)
• The serine protease activity of calnuc is allosterically regulated by Zn2+ binding and its interaction with G protein alpha subunit. (PMID:23195954)
• nesfatin-1 has a role in thyroid dysfunction in patients with T2DM (PMID:24995340)
• Calnuc depletion causes the misdelivery to and degradation in lysosomes of cationic-independent mannose-6-phosphate receptor and Sortilin . (PMID:26756199)
• Data suggest that calnuc (nucleobindin 1) is possibly involved in controlling protein unfolding diseases, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), prion disease, and type II diabetes. (PMID:27997158)
• blood levels of nesfatin-1 are associated with binge eating (PMID:29940599)
• post gene duplication, Nucb1 has emerged as unconventional Ca(2+)-binding transcriptional regulators that can induce Epithelial-to-Mesenchymal transition. (PMID:31176806)
• Nucleobindin-1 regulates ECM degradation by promoting intra-Golgi trafficking of MMPs. (PMID:32479594)
• A Change in Domain Cooperativity Drives the Function of Calnuc. (PMID:32543177)
• Aberrant environment and PS-binding to calnuc C-terminal tail drives exosomal packaging and its metastatic ability. (PMID:34047336)
• Expression and correlation of COX-2 and NUCB1 in colorectal adenocarcinoma. (PMID:37547718)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nucb1	ENSDARG00000054833
mus_musculus	Nucb1	ENSMUSG00000030824
rattus_norvegicus	Nucb1	ENSRNOG00000020889
drosophila_melanogaster	NUCB1	FBGN0052190
caenorhabditis_elegans		WBGENE00009674

Paralogs (1): NUCB2 (ENSG00000070081)

Protein

Protein identifiers

Nucleobindin-1 — Q02818 (reviewed: Q02818)

Alternative names: CALNUC

All UniProt accessions (17): A0A9L9PX96, A0A9L9PXG8, A0A9L9PXH3, A0A9L9PXH6, A0A9L9PXT8, A0A9L9PXU2, A0A9L9PXW3, A0A9L9PXW6, A0A9L9PYA9, Q02818, A0A9L9PYB2, A0A9L9PYB5, C9J3C1, C9JBD3, C9JKZ2, F8WB20, H7BZI1

UniProt curated annotations — full annotation on UniProt →

Function. Major calcium-binding protein of the Golgi which may have a role in calcium homeostasis. Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates alpha subunits of guanine nucleotide-binding proteins (G proteins).

Subunit / interactions. Interacts (via GBA motif) with guanine nucleotide-binding protein G(i) alpha subunits GNAI1, GNAI2 and GNAI3 with higher affinity for GNAI1 and GNAI3 than for GNAI2. Preferentially interacts with inactive rather than active GNAI3. Interaction with GNAI3 is inhibited when NUCB1 binds calcium, probably due to a conformational change which renders the GBA motif inaccessible.

Subcellular location. Golgi apparatus. cis-Golgi network membrane. Cytoplasm. Secreted.

Tissue specificity. Expressed both in fetal and adult heart, lung, liver, kidney and brain, and in adult skeletal muscle, placenta and pancreas.

Post-translational modifications. O-glycosylated.

Domain organisation. The EF-hand domains are unfolded in the absence of Ca(2+) and fold upon Ca(2+) addition. The GBA (G-alpha binding and activating) motif mediates binding to the alpha subunits of guanine nucleotide-binding proteins (G proteins).

Miscellaneous. Discovered as DNA-binding protein in the serum of lupus-prone mice.

Similarity. Belongs to the nucleobindin family.

RefSeq proteins (1): NP_006175* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR040250	Nucleobindin	Family
IPR057576	NUCB1_N	Domain

Pfam: PF25434

UniProt features (38 total): binding site 8, helix 5, region of interest 4, modified residue 3, sequence variant 3, sequence conflict 3, coiled-coil region 2, compositionally biased region 2, domain 2, strand 2, signal peptide 1, chain 1, short sequence motif 1, DNA-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1SNL	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02818-F1	79.75	0.49

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 (8): 253; 255; 257; 264; 305; 307; 309; 316

Post-translational modifications (3): 86, 148, 369

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation

MSigDB gene sets: 194 (showing top): RNGTGGGC_UNKNOWN, GRUETZMANN_PANCREATIC_CANCER_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, DITTMER_PTHLH_TARGETS_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, AACYNNNNTTCCS_UNKNOWN, BYSTROEM_CORRELATED_WITH_IL5_UP, AACTTT_UNKNOWN, DAZARD_UV_RESPONSE_CLUSTER_G5, JOSEPH_RESPONSE_TO_SODIUM_BUTYRATE_DN, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, CAGCCTC_MIR4855P, ZHONG_SECRETOME_OF_LUNG_CANCER_AND_FIBROBLAST, GOCC_ENDOPLASMIC_RETICULUM_LUMEN

GO Biological Process (1): small GTPase-mediated signal transduction (GO:0007264)

GO Molecular Function (6): G-protein alpha-subunit binding (GO:0001965), DNA binding (GO:0003677), guanyl-nucleotide exchange factor activity (GO:0005085), calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (10): obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), membrane (GO:0016020), extracellular exosome (GO:0070062), Golgi membrane (GO:0000139), extracellular region (GO:0005576), cytoplasm (GO:0005737), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of proteins	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
intracellular membrane-bounded organelle	2
intracellular signaling cassette	1
protein binding	1
nucleic acid binding	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
metal ion binding	1
binding	1
cation binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
endomembrane system	1
extracellular vesicle	1
Golgi apparatus	1
bounding membrane of organelle	1
intracellular anatomical structure	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUCB1	POLR2B	P30876	669
NUCB1	S100A14	Q9HCY8	665
NUCB1	APP	P05067	555
NUCB1	SETBP1	Q9Y6X0	542
NUCB1	CDC27	P30260	511
NUCB1	TNFRSF11B	O00300	470
NUCB1	RAD1	O60671	447
NUCB1	H3C1	P02295	445
NUCB1	H3-3A	P06351	439
NUCB1	PPP3R1	P06705	437
NUCB1	H3C14	Q71DI3	435
NUCB1	H3-5	Q6NXT2	435
NUCB1	H3-4	Q16695	435
NUCB1	GAPDH	P00354	435
NUCB1	H3-7	Q5TEC6	435

IntAct

81 interactions, top by confidence:

A	B	Type	Score
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
DKKL1	DENND11	psi-mi:“MI:0914”(association)	0.640
	NUCB1	psi-mi:“MI:0915”(physical association)	0.570
NUCB1		psi-mi:“MI:0915”(physical association)	0.570
GPA2	NUCB1	psi-mi:“MI:0915”(physical association)	0.560
NUCB1	GPA2	psi-mi:“MI:0915”(physical association)	0.560
APP	NUCB1	psi-mi:“MI:0915”(physical association)	0.560
FGF3	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
DDX31	IGLL5	psi-mi:“MI:0914”(association)	0.530
PRXL2B	NARS1	psi-mi:“MI:0914”(association)	0.530
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530
MMP10	TIMP1	psi-mi:“MI:0914”(association)	0.530
MMP3	APOE	psi-mi:“MI:0914”(association)	0.530
ADCYAP1	GGPS1	psi-mi:“MI:0914”(association)	0.530
PIP	TBKBP1	psi-mi:“MI:0914”(association)	0.530
NUCB1	NUCB2	psi-mi:“MI:0915”(physical association)	0.500
NUCB1	NUCB2	psi-mi:“MI:0914”(association)	0.500
NUCB1	FAM20C	psi-mi:“MI:0217”(phosphorylation reaction)	0.440

BioGRID (132): REL (Two-hybrid), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS)

ESM2 similar proteins: B5X186, B5X4E0, I6L9G5, J3S9D9, O35783, O43745, O93434, P16144, P20112, P26572, P36377, P36378, P41150, Q02818, Q02819, Q05186, Q0P569, Q0VCN6, Q13219, Q14257, Q15293, Q17QM6, Q28BT4, Q2KJ39, Q32KV6, Q5DTK1, Q5R4U1, Q5U309, Q5VSG8, Q62703, Q63083, Q6IP82, Q6IQP3, Q6W3F0, Q75UG4, Q7SXV9, Q7Z4N8, Q802G7, Q8BH97, Q8BP92

Diamond homologs: O74903, P39931, Q02818, Q02819, Q0P569, P80303, P81117, Q5R4U1, Q63083, Q9JI85

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATF6	“up-regulates quantity by expression”	NUCB1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1986 predictions. Top by Δscore:

Variant	Effect	Δscore
19:48904451:CAAGG:C	donor_loss	1.0000
19:48904453:AGG:A	donor_loss	1.0000
19:48904455:G:GA	donor_loss	1.0000
19:48905747:T:TA	acceptor_gain	1.0000
19:48905748:GTCAG:G	acceptor_loss	1.0000
19:48905751:A:AG	acceptor_gain	1.0000
19:48905751:A:G	acceptor_loss	1.0000
19:48905751:AGAGC:A	acceptor_gain	1.0000
19:48905752:G:GC	acceptor_loss	1.0000
19:48905752:G:GT	acceptor_gain	1.0000
19:48905752:GA:G	acceptor_gain	1.0000
19:48905752:GAGC:G	acceptor_gain	1.0000
19:48905752:GAGCG:G	acceptor_gain	1.0000
19:48905879:G:GT	donor_gain	1.0000
19:48905881:TCCCA:T	donor_gain	1.0000
19:48905882:CCCAG:C	donor_loss	1.0000
19:48905883:CCAGT:C	donor_loss	1.0000
19:48905884:CAGTG:C	donor_loss	1.0000
19:48905885:AGTGA:A	donor_loss	1.0000
19:48905886:G:GG	donor_gain	1.0000
19:48905886:GTGAG:G	donor_loss	1.0000
19:48905887:T:A	donor_loss	1.0000
19:48911147:A:AG	acceptor_gain	1.0000
19:48911148:G:GG	acceptor_gain	1.0000
19:48911148:GAT:G	acceptor_gain	1.0000
19:48911249:GACG:G	donor_gain	1.0000
19:48911259:G:GT	donor_gain	1.0000
19:48913006:CCCA:C	acceptor_loss	1.0000
19:48913007:CCA:C	acceptor_loss	1.0000
19:48913008:CA:C	acceptor_loss	1.0000

AlphaMissense

3020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:48904371:T:C	Y54H	1.000
19:48904372:A:G	Y54C	1.000
19:48904375:T:A	L55H	1.000
19:48904375:T:C	L55P	1.000
19:48904396:T:A	L62Q	1.000
19:48904396:T:C	L62P	1.000
19:48904414:T:G	F68C	1.000
19:48904426:T:C	L72P	1.000
19:48905775:T:C	L89P	1.000
19:48905784:T:A	V92D	1.000
19:48905799:G:C	R97P	1.000
19:48905808:T:A	L100Q	1.000
19:48905808:T:C	L100P	1.000
19:48905817:T:C	L103P	1.000
19:48905819:A:G	K104E	1.000
19:48905821:G:C	K104N	1.000
19:48905821:G:T	K104N	1.000
19:48905823:G:C	R105P	1.000
19:48905838:G:C	R110P	1.000
19:48905841:T:C	L111P	1.000
19:48905850:T:C	L114P	1.000
19:48911217:T:C	F149L	1.000
19:48911218:T:C	F149S	1.000
19:48911218:T:G	F149C	1.000
19:48911219:C:A	F149L	1.000
19:48911219:C:G	F149L	1.000
19:48911230:A:C	D153A	1.000
19:48911230:A:T	D153V	1.000
19:48911233:T:C	L154P	1.000
19:48911242:T:A	L157Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000120641 (19:48906933 A>G), RS1000274457 (19:48909067 A>C,G), RS1000291273 (19:48921602 C>G), RS1000424785 (19:48908880 G>A), RS1000491747 (19:48916047 A>G,T), RS1000780074 (19:48914533 G>C), RS1000857859 (19:48898791 G>A), RS1000892066 (19:48898978 A>C), RS1000970929 (19:48917776 G>A,T), RS1001165122 (19:48907625 G>A), RS1001370521 (19:48910514 T>A), RS1001549048 (19:48907793 C>T), RS1001588654 (19:48901683 G>A), RS1001618621 (19:48915528 G>A), RS1001905055 (19:48906722 CAA>C,CA,CAAA)

Disease associations

OMIM: gene MIM:601323 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — EF-hand domain containing proteins

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
MJN228	Antagonist	5.48	pIC50
KML110	Antagonist	5.02	pIC50

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases methylation, increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
Air Pollutants	increases expression, affects cotreatment, increases abundance, increases oxidation	3
Particulate Matter	increases abundance, increases expression, decreases expression	3
methacrylaldehyde	affects cotreatment, increases oxidation, increases expression, increases abundance	2
Acrolein	affects cotreatment, increases oxidation, increases expression, increases abundance	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Ozone	affects cotreatment, increases oxidation, increases expression, increases abundance	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tunicamycin	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
lasiocarpine	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
sodium arsenate	decreases expression	1
terbufos	increases methylation	1
dimethylselenide	decreases expression, increases oxidation	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
diallyl trisulfide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
jinfukang	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects secretion	1
Vehicle Emissions	decreases expression, increases abundance	1
Caffeine	increases phosphorylation	1

Clinical trials (associated diseases)

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