CALCOCO1

Summary

CALCOCO1 (calcium binding and coiled-coil domain 1, HGNC:29306) is a protein-coding gene on chromosome 12q13.13, encoding Calcium-binding and coiled-coil domain-containing protein 1 (Q9P1Z2). Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR).

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; beta-catenin binding activity; and transcription coactivator activity. Involved in positive regulation of DNA-templated transcription and positive regulation of gene expression. Located in cytosol and nucleus.

Source: NCBI Gene 57658 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 112 total
• MANE Select transcript: NM_020898

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29306
Approved symbol	CALCOCO1
Name	calcium binding and coiled-coil domain 1
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1536, calphoglin, Cocoa
Ensembl gene	ENSG00000012822
Ensembl biotype	protein_coding
Entrez	57658

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 41 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000262059, ENST00000430117, ENST00000546443, ENST00000546619, ENST00000546774, ENST00000547885, ENST00000547949, ENST00000547988, ENST00000548177, ENST00000548263, ENST00000548431, ENST00000549173, ENST00000549349, ENST00000549613, ENST00000549688, ENST00000549784, ENST00000549935, ENST00000550804, ENST00000551900, ENST00000552282, ENST00000552623, ENST00000553154, ENST00000886083, ENST00000886084, ENST00000886085, ENST00000886086, ENST00000886087, ENST00000886088, ENST00000886089, ENST00000886090, ENST00000886091, ENST00000886092, ENST00000886093, ENST00000886094, ENST00000886095, ENST00000886096, ENST00000886097, ENST00000922935, ENST00000943515, ENST00000943516, ENST00000943517, ENST00000943518, ENST00000943519, ENST00000943520, ENST00000943521, ENST00000943522, ENST00000943523, ENST00000943524, ENST00000943525, ENST00000943526

RefSeq mRNA: 2 — MANE Select: NM_020898 NM_001143682, NM_020898

CCDS: CCDS44908, CCDS8864

Canonical transcript exons

ENST00000550804 — 15 exons

Exon	Start	End
ENSE00000939153	53714133	53714241
ENSE00000939170	53713100	53713206
ENSE00001151728	53713701	53713900
ENSE00002428500	53727404	53727452
ENSE00003495343	53725087	53725266
ENSE00003503607	53716260	53716415
ENSE00003554350	53715200	53715325
ENSE00003566605	53723593	53723783
ENSE00003607507	53714598	53714693
ENSE00003641115	53715793	53716047
ENSE00003648435	53724645	53724747
ENSE00003672552	53719739	53719829
ENSE00003677799	53721467	53721615
ENSE00003687520	53722025	53722183
ENSE00003738470	53708517	53712121

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5044 / max 276.2827, expressed in 1774 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131271	13.4096	1766
131272	1.0574	708
131270	0.0373	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	99.32	gold quality
skin of leg	UBERON:0001511	98.89	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.86	gold quality
descending thoracic aorta	UBERON:0002345	98.85	gold quality
lower esophagus	UBERON:0013473	98.85	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.82	gold quality
popliteal artery	UBERON:0002250	98.80	gold quality
tibial artery	UBERON:0007610	98.80	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.80	gold quality
skin of abdomen	UBERON:0001416	98.77	gold quality
cerebellar hemisphere	UBERON:0002245	98.75	gold quality
aorta	UBERON:0000947	98.73	gold quality
artery	UBERON:0001637	98.71	gold quality
thoracic aorta	UBERON:0001515	98.68	gold quality
right coronary artery	UBERON:0001625	98.68	gold quality
ascending aorta	UBERON:0001496	98.67	gold quality
cerebellar cortex	UBERON:0002129	98.62	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.61	gold quality
right lung	UBERON:0002167	98.56	gold quality
left coronary artery	UBERON:0001626	98.48	gold quality
gastrocnemius	UBERON:0001388	98.43	gold quality
coronary artery	UBERON:0001621	98.39	gold quality
left ovary	UBERON:0002119	98.39	gold quality
tibial nerve	UBERON:0001323	98.33	gold quality
minor salivary gland	UBERON:0001830	98.31	gold quality
muscle of leg	UBERON:0001383	98.26	gold quality
body of pancreas	UBERON:0001150	98.23	gold quality
gall bladder	UBERON:0002110	98.23	gold quality
body of stomach	UBERON:0001161	98.09	gold quality
right uterine tube	UBERON:0001302	98.07	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting CALCOCO1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-4685-5P	99.25	65.99	1563

Literature-anchored findings (GeneRIF, showing 6)

• Results report a novel human protein, calphoglin, which activates inorganic pyrophosphatase (IPP) and enhances phosphoglucomutase activity through the activated IPP. (PMID:15522220)
• CoCoA uses different combinations of functional domains in its synergistic coactivator function with beta-catenin or GRIP1 (PMID:16344550)
• The N terminus of CoCoA contains another activation domain , which is necessary and sufficient for synergistic activation of LEF1-mediated transcription by CoCoA and beta-catenin. (PMID:16931570)
• A HOTAIR regulatory element modulates glioma cell sensitivity to temozolomide through long-range regulation of multiple target genes. (PMID:31953347)
• CALCOCO1 acts with VAMP-associated proteins to mediate ER-phagy. (PMID:32525583)
• RTN3L and CALCOCO1 function in parallel to maintain proteostasis in the endoplasmic reticulum. (PMID:38818751)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	calcoco1b	ENSDARG00000016391
danio_rerio	calcoco1a	ENSDARG00000036695
mus_musculus	Calcoco1	ENSMUSG00000023055
rattus_norvegicus	Calcoco1	ENSRNOG00000015447

Paralogs (2): TAX1BP1 (ENSG00000106052), CALCOCO2 (ENSG00000136436)

Protein

Protein identifiers

Calcium-binding and coiled-coil domain-containing protein 1 — Q9P1Z2 (reviewed: Q9P1Z2)

Alternative names: Calphoglin, Coiled-coil coactivator protein, Sarcoma antigen NY-SAR-3

All UniProt accessions (10): Q9P1Z2, F8VPN1, F8VQE3, F8VRQ9, F8VUB3, F8VWP8, F8VXS2, F8VZI3, F8W0X2, H3BRW8

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization of two different activation regions. In association with CCAR1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells. Seems to enhance inorganic pyrophosphatase thus activating phosphogluomutase (PMG). Probably functions as a component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth.

Subunit / interactions. Part of a calphoglin complex consisting of CALCOCO1, PPA1 and PGM (Ref.1). Interacts with the bHLH-PAS domains of GRIP1, AHR and ARNT. Interacts with CTNNB1 via both its N- and C-terminal regions. Interacts with EP300. Interacts with CCAR1 (via N-terminus) and GATA1.

Subcellular location. Cytoplasm. Nucleus.

Domain organisation. The C-terminal activation region (AD) is used for downstream signaling. Seems to be essential for coactivator function with nuclear receptors and with the aryl hydrocarbon receptor. The N-terminal activation region (AD) is necessary and sufficient for synergistic activation of LEF1-mediated transcription by CTNNB1. Contains a EP3000 binding region which is important for synergistic cooperation. Recruitment by nuclear receptors is accomplished by the interaction of the coiled-coiled domain with p160 coactivators.

Similarity. Belongs to the CALCOCO family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9P1Z2-1	1	yes
Q9P1Z2-2	2
Q9P1Z2-3	3
Q9P1Z2-4	4

RefSeq proteins (2): NP_001137154, NP_065949* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012852	CALCOCO1-like	Domain
IPR041611	SKICH	Domain
IPR041641	CALCOCO1/2_Zn_UBZ1	Domain
IPR051002	UBA_autophagy_assoc_protein	Family

Pfam: PF07888, PF17751, PF18112

UniProt features (23 total): region of interest 5, binding site 4, splice variant 4, sequence conflict 3, coiled-coil region 3, chain 1, zinc finger region 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P1Z2-F1	77.57	0.53

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 (4): 656; 659; 675; 679

Post-translational modifications (1): 4

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 215 (showing top): MORF_RAGE, CREL_01, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_CELLULAR_RESPONSE_TO_LIPID, MORF_ATRX, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_DN, RACCACAR_AML_Q6, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, DARWICHE_PAPILLOMA_PROGRESSION_RISK, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GTGCCTT_MIR506, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY

GO Biological Process (6): signal transduction (GO:0007165), positive regulation of gene expression (GO:0010628), Wnt signaling pathway (GO:0016055), nuclear receptor-mediated steroid hormone signaling pathway (GO:0030518), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), chromatin binding (GO:0003682), transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), beta-catenin binding (GO:0008013), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
positive regulation of DNA-templated transcription	2
binding	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
cell surface receptor signaling pathway	1
steroid hormone receptor signaling pathway	1
nuclear receptor-mediated signaling pathway	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
transcription regulator activity	1
transcription coregulator activity	1
protein binding	1
transition metal ion binding	1
DNA binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1060 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CALCOCO1	F5GZY7	F5GZY7	765
CALCOCO1	TEX264	Q9Y6I9	668
CALCOCO1	GABARAPL2	P60520	630
CALCOCO1	CCPG1	Q9ULG6	601
CALCOCO1	VAPB	O95292	598
CALCOCO1	VAPA	Q9P0L0	595
CALCOCO1	ZDHHC17	Q8IUH5	578
CALCOCO1	GABARAP	O95166	571
CALCOCO1	ATL3	Q6DD88	549
CALCOCO1	RETREG1	Q9H6L5	548
CALCOCO1	SEC62	Q99442	546
CALCOCO1	RTN3	O95197	476
CALCOCO1	ESR1	P03372	466
CALCOCO1	ZNF282	Q9UDV7	430
CALCOCO1	SERTAD1	Q9UHV2	414

IntAct

132 interactions, top by confidence:

A	B	Type	Score
NDC80	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.800
CALCOCO1	NDC80	psi-mi:“MI:0915”(physical association)	0.800
KRT31	HGS	psi-mi:“MI:0914”(association)	0.780
BFSP2	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.740
CALCOCO1	CWF19L2	psi-mi:“MI:0915”(physical association)	0.720
CALCOCO1	CEP19	psi-mi:“MI:0915”(physical association)	0.720
CALCOCO1	DUSP13B	psi-mi:“MI:0915”(physical association)	0.720
CWF19L2	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.720
CEP19	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.720
DUSP13B	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.720
CA10	WDHD1	psi-mi:“MI:0914”(association)	0.640
RALBP1	JUN	psi-mi:“MI:0914”(association)	0.640
MAFF	NFE2L1	psi-mi:“MI:0914”(association)	0.590
GABARAPL2	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.560
FAM161A	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO1	TBC1D15	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO1	ISOC1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (125): CALCOCO1 (Two-hybrid), CALCOCO1 (Two-hybrid), CALCOCO1 (Two-hybrid), CALCOCO1 (Two-hybrid), TBC1D15 (Two-hybrid), FAM161A (Two-hybrid), CEP19 (Two-hybrid), CWF19L2 (Two-hybrid), CALCOCO1 (Affinity Capture-MS), CALCOCO1 (Affinity Capture-MS), CALCOCO1 (Affinity Capture-MS), CALCOCO1 (Affinity Capture-MS), CALCOCO1 (Affinity Capture-MS), CALCOCO1 (Affinity Capture-MS), CALCOCO1 (Two-hybrid)

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: A2A6M5, A2BGD5, O18737, Q13137, Q1LWB0, Q2KJ21, Q2KJE0, Q3UKC1, Q4R914, Q5R4U3, Q5R7H1, Q5RD60, Q66HA4, Q66HR5, Q6DD09, Q6DF48, Q6P132, Q6P3P1, Q86VP1, Q8CGU1, Q9DEX1, Q9P1Z2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SMURF1	unknown	CALCOCO1	ubiquitination
TFEB	“up-regulates quantity by expression”	CALCOCO1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
WNT5A-dependent internalization of FZD4	5	53.6×	3e-06
Dengue Virus Attachment and Entry	5	18.3×	2e-04
Clathrin-mediated endocytosis	13	15.6×	7e-10
EPH-ephrin mediated repulsion of cells	5	15.5×	5e-04
Cargo recognition for clathrin-mediated endocytosis	10	14.8×	3e-07
Signaling by NTRK1 (TRKA)	5	13.9×	7e-04
Signaling by NTRKs	5	12.8×	1e-03
L1CAM interactions	5	8.5×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
clathrin coat assembly	5	50.4×	6e-06
clathrin-dependent endocytosis	6	39.6×	2e-06
synaptic vesicle endocytosis	6	29.5×	6e-06
morphogenesis of an epithelium	6	23.4×	2e-05
intermediate filament organization	8	21.9×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2735 predictions. Top by Δscore:

Variant	Effect	Δscore
12:53713095:CTCA:C	donor_loss	1.0000
12:53713096:TCA:T	donor_loss	1.0000
12:53713097:CAC:C	donor_loss	1.0000
12:53713098:A:AC	donor_gain	1.0000
12:53713098:ACC:A	donor_loss	1.0000
12:53713099:C:CC	donor_gain	1.0000
12:53713099:C:G	donor_loss	1.0000
12:53713099:CCTGG:C	donor_gain	1.0000
12:53713204:CTC:C	acceptor_gain	1.0000
12:53713205:TC:T	acceptor_gain	1.0000
12:53713205:TCCTG:T	acceptor_loss	1.0000
12:53713206:CC:C	acceptor_gain	1.0000
12:53713207:C:A	acceptor_loss	1.0000
12:53713207:C:CC	acceptor_gain	1.0000
12:53713208:T:G	acceptor_loss	1.0000
12:53713211:A:AC	acceptor_gain	1.0000
12:53713670:CTG:C	donor_gain	1.0000
12:53714074:T:TA	donor_gain	1.0000
12:53714111:A:AC	donor_gain	1.0000
12:53714112:C:CC	donor_gain	1.0000
12:53714131:A:AC	donor_gain	1.0000
12:53714132:C:CC	donor_gain	1.0000
12:53714135:AGC:A	donor_gain	1.0000
12:53714135:AGCC:A	donor_gain	1.0000
12:53714135:AGCCC:A	donor_gain	1.0000
12:53714136:G:C	donor_gain	1.0000
12:53714150:T:TA	donor_gain	1.0000
12:53714155:AT:A	donor_gain	1.0000
12:53714156:T:TA	donor_gain	1.0000
12:53714592:GCTCA:G	donor_loss	1.0000

AlphaMissense

4517 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:53723690:A:G	F118S	1.000
12:53723744:A:G	F100S	1.000
12:53724650:A:G	F85S	1.000
12:53724712:A:C	F64L	1.000
12:53724712:A:T	F64L	1.000
12:53724714:A:G	F64L	1.000
12:53723695:G:C	F116L	0.999
12:53723695:G:T	F116L	0.999
12:53723696:A:G	F116S	0.999
12:53723697:A:G	F116L	0.999
12:53723704:G:C	S113R	0.999
12:53723704:G:T	S113R	0.999
12:53723706:T:G	S113R	0.999
12:53724649:G:C	F85L	0.999
12:53724649:G:T	F85L	0.999
12:53724651:A:G	F85L	0.999
12:53725090:G:C	F51L	0.999
12:53725090:G:T	F51L	0.999
12:53725092:A:G	F51L	0.999
12:53725097:C:T	G49D	0.999
12:53725149:A:G	C32R	0.999
12:53725193:A:G	F17S	0.999
12:53712054:A:G	C656R	0.998
12:53723689:G:C	F118L	0.998
12:53723689:G:T	F118L	0.998
12:53723690:A:C	F118C	0.998
12:53723691:A:G	F118L	0.998
12:53723739:A:C	Y102D	0.998
12:53723774:A:G	L90P	0.998
12:53724650:A:C	F85C	0.998

dbSNP variants (sampled 300 via entrez): RS1000179222 (12:53723876 C>T), RS1000264594 (12:53709575 T>C), RS1000555178 (12:53727380 C>A), RS1000754207 (12:53727172 T>C), RS1000823828 (12:53714558 C>T), RS1000866742 (12:53708303 G>A,T), RS1000899963 (12:53711053 T>C), RS1001044120 (12:53714225 A>G), RS1001220756 (12:53724126 G>A), RS1001254064 (12:53723552 C>T), RS1001381466 (12:53708612 A>G), RS1001414397 (12:53711983 G>A), RS1001474383 (12:53720852 T>C), RS1001505407 (12:53729169 A>G,T), RS1001534321 (12:53710796 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000320_5	Panic disorder	3.000000e-07
GCST002671_11	Toenail selenium levels	8.000000e-07
GCST005956_70	Waist-to-hip ratio adjusted for BMI	4.000000e-13
GCST005958_9	Waist-to-hip ratio adjusted for BMI (age >50)	1.000000e-08
GCST005962_20	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	7.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
(+)-JQ1 compound	increases expression	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Estradiol	decreases expression	2
afuresertib	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
cupric chloride	decreases expression	1
phenethyl isothiocyanate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
pyrimidifen	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
pyrachlostrobin	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
jinfukang	affects cotreatment, increases expression	1
Dasatinib	increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1J7	HeLa::TMEM192-3xHA CALCOCO1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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