TESC

Summary

TESC (tescalcin, HGNC:26065) is a protein-coding gene on chromosome 12q24.22, encoding Calcineurin B homologous protein 3 (Q96BS2). Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity.

Enables calcium ion binding activity. Involved in several processes, including positive regulation of macromolecule biosynthetic process; positive regulation of myeloid cell differentiation; and positive regulation of sodium:proton antiporter activity. Located in several cellular components, including cytosol; lamellipodium; and nucleoplasm.

Source: NCBI Gene 54997 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_017899

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26065
Approved symbol	TESC
Name	tescalcin
Location	12q24.22
Locus type	gene with protein product
Status	Approved
Aliases	TSC, FLJ20607, CHP3
Ensembl gene	ENSG00000088992
Ensembl biotype	protein_coding
OMIM	611585
Entrez	54997

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000335209, ENST00000462502, ENST00000470612, ENST00000482176, ENST00000535198, ENST00000541210, ENST00000549210, ENST00000552139, ENST00000874651, ENST00000925487, ENST00000940881, ENST00000940882

RefSeq mRNA: 2 — MANE Select: NM_017899 NM_001168325, NM_017899

CCDS: CCDS53835, CCDS9183

Canonical transcript exons

ENST00000335209 — 8 exons

Exon	Start	End
ENSE00001829567	117038923	117039210
ENSE00001834387	117099225	117099416
ENSE00003490219	117075271	117075340
ENSE00003576572	117049019	117049158
ENSE00003613658	117046559	117046666
ENSE00003620577	117046777	117046838
ENSE00003646192	117056806	117056886
ENSE00003656940	117041947	117041994

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 98.49.

FANTOM5 (CAGE): breadth broad, TPM avg 14.0024 / max 1041.2367, expressed in 902 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133495	11.2990	833
133496	1.8904	581
133494	0.6518	276
133493	0.1488	78
133489	0.0125	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.49	gold quality
body of pancreas	UBERON:0001150	96.90	gold quality
apex of heart	UBERON:0002098	96.18	gold quality
putamen	UBERON:0001874	95.28	gold quality
corpus epididymis	UBERON:0004359	95.22	gold quality
blood	UBERON:0000178	94.97	gold quality
caudate nucleus	UBERON:0001873	94.51	gold quality
gall bladder	UBERON:0002110	94.17	gold quality
heart left ventricle	UBERON:0002084	94.08	gold quality
right adrenal gland	UBERON:0001233	94.07	gold quality
cardiac ventricle	UBERON:0002082	93.87	gold quality
right adrenal gland cortex	UBERON:0035827	93.79	gold quality
left adrenal gland cortex	UBERON:0035825	93.73	gold quality
monocyte	CL:0000576	93.67	gold quality
mononuclear cell	CL:0000842	93.61	gold quality
left adrenal gland	UBERON:0001234	93.44	gold quality
leukocyte	CL:0000738	93.36	gold quality
body of stomach	UBERON:0001161	93.21	gold quality
adrenal cortex	UBERON:0001235	93.17	gold quality
pancreas	UBERON:0001264	93.07	gold quality
nucleus accumbens	UBERON:0001882	93.04	gold quality
bone marrow	UBERON:0002371	92.94	gold quality
oocyte	CL:0000023	92.14	gold quality
adrenal gland	UBERON:0002369	92.06	gold quality
granulocyte	CL:0000094	91.94	gold quality
pylorus	UBERON:0001166	91.64	gold quality
stomach	UBERON:0000945	91.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.33	gold quality
prefrontal cortex	UBERON:0000451	91.23	gold quality
adrenal tissue	UBERON:0018303	91.15	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	517.82
E-MTAB-6701	yes	90.39
E-MTAB-10042	yes	27.62
E-MTAB-10553	yes	20.89
E-MTAB-9221	yes	11.48
E-MTAB-8142	yes	9.73
E-HCAD-9	yes	8.90
E-MTAB-9388	yes	8.57
E-CURD-53	no	828.61
E-MTAB-4850	no	446.93
E-CURD-10	no	19.74
E-HCAD-10	no	2.15
E-MTAB-9467	no	1.25
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1, SP3, ZBTB14

miRNA regulators (miRDB)

9 targeting TESC, 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-4531	99.99	69.70	3181
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-4433A-5P	96.79	65.01	599
HSA-MIR-10392-3P	88.79	61.83	122

Literature-anchored findings (GeneRIF, showing 17)

• CHP3 binds directly to the proximal juxtamembrane C-terminal region (amino acids 505-571) of rat NHE1 in the same region that binds CHP1 and CHP2. (PMID:18321853)
• Tescalcin is one of the key gene products that is involved in switching differentiation program in some cell types. (PMID:20060826)
• Loss of both N-myristoylation and calcium binding of CHP3 decreases cell surface stability of NHE1. (PMID:22984264)
• a binding partner and regulator of subunit 4 of the COP9 signalosome (PMID:24659803)
• This study demonstrated that highly significant effects of rs7294919 of tescalcin on hippocampal gray matter volumes. (PMID:24776739)
• TESC is overexpressed in colorectal cancer (PMID:24811141)
• CHP3 functions as a novel negative regulator of cardiomyocyte hypertrophy via inhibition of GSK3alpha/beta phosphorylation. (PMID:25935310)
• High Tescalcin expression is associated with colorectal cancer. (PMID:27485112)
• This study found that the genotype of TESC at the rs7294919 locus and MDD had a significant interactive effect on the hippocampal subfield volume. (PMID:28575645)
• Study showed TESC as a novel regulator of c-Src/IGF1R-mediated STAT3 activation pathway, which enhances ALDH1 expression, consequently reinforces the cancer stem cell-like and radio-resistant properties. (PMID:30013043)
• CHP3 bound with high affinity to CHP-binding domain of NHE1 with an equilibrium dissociation constant (KD) of 56 nM determined by microscale thermophoresis. (PMID:30287853)
• These findings demonstrate that atopic expression of Tescalcin facilitates the survival, migration and invasion of renal cell carcinoma cells (PMID:30594602)
• These results indicated that the differential expression of TESC via the modification status of the promoter and histone methylation controled cell survival in gastric cancer cells (PMID:31002343)
• Replication of a hippocampus specific effect of the tescalcin regulating variant rs7294919 on gray matter structure. (PMID:32451266)
• Tescalcin is an unfavorable prognosis factor that regulats cell proliferation and survival in hepatocellular carcinoma patients. (PMID:32609436)
• Long non-coding RNA TUG1/microRNA-187-3p/TESC axis modulates progression of pituitary adenoma via regulating the NF-kappaB signaling pathway. (PMID:34021124)
• TESC acts as a prognostic factor and promotes epithelial-mesenchymal transition progression in esophageal squamous carcinoma. (PMID:38000203)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	tesca	ENSDARG00000028346
danio_rerio	tescb	ENSDARG00000030839
mus_musculus	Tesc	ENSMUSG00000029359
mus_musculus	Tescl	ENSMUSG00000055826
rattus_norvegicus	Tesc	ENSRNOG00000001128
rattus_norvegicus	Tescl	ENSRNOG00000019427
drosophila_melanogaster	CG32812	FBGN0025642
drosophila_melanogaster	Cib2	FBGN0034558
drosophila_melanogaster	elm	FBGN0037358
drosophila_melanogaster	CG14362	FBGN0038186
caenorhabditis_elegans	calm-1	WBGENE00009260
caenorhabditis_elegans		WBGENE00014109
caenorhabditis_elegans		WBGENE00019108

Paralogs (8): CIB2 (ENSG00000136425), CIB3 (ENSG00000141977), CIB4 (ENSG00000157884), CHP2 (ENSG00000166869), CIB1 (ENSG00000185043), CHP1 (ENSG00000187446), PPP3R2 (ENSG00000188386), PPP3R1 (ENSG00000221823)

Protein

Protein identifiers

Calcineurin B homologous protein 3 — Q96BS2 (reviewed: Q96BS2)

Alternative names: Tescalcin

All UniProt accessions (3): Q96BS2, E9PQ58, H0YIX4

UniProt curated annotations — full annotation on UniProt →

Function. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the phosphatase activity of calcineurin.

Subunit / interactions. Monomer. Homodimer; disulfide-linked. Interacts with SLC9A1/NHE1; the interaction enables an optimal Na(+)/H(+) exchange activity.

Subcellular location. Nucleus. Cytoplasm. Membrane. Cell membrane. Cell projection. Lamellipodium. Ruffle membrane.

Tissue specificity. Expressed in mature megakaryocytes and polymorphonuclear granulocytes (at protein level). Abundantly expressed in heart. Also expressed at a lower level in adult testis and salivary gland, and in the placenta.

Domain organisation. Binds calcium via its EF-hands. Calcium-binding mediates a conformational change. Can also bind magnesium.

Induction. Up-regulated during granulocytic differentiation in a ERK-dependent manner (is mediated by activation of ERK) (at protein level). Up-regulated during the differentiation and maturation of primary megakaryocytes. Down-regulated during monocytic-macrophage differentiation in a ERK-dependent manner.

Similarity. Belongs to the calcineurin regulatory subunit family. CHP subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96BS2-1	1	yes
Q96BS2-2	2
Q96BS2-3	3

RefSeq proteins (2): NP_001161797, NP_060369* (*=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
IPR052490	CHP3	Family

UniProt features (15 total): binding site 5, splice variant 3, initiator methionine 1, chain 1, lipid moiety-binding region 1, sequence conflict 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96BS2-F1	86.75	0.59

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): 123; 125; 127; 129; 134

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 291 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOCC_RUFFLE, GOBP_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION

GO Biological Process (15): negative regulation of cell population proliferation (GO:0008285), male gonad development (GO:0008584), positive regulation of gene expression (GO:0010628), protein transport (GO:0015031), megakaryocyte differentiation (GO:0030219), positive regulation of granulocyte differentiation (GO:0030854), positive regulation of sodium:proton antiporter activity (GO:0032417), regulation of cell adhesion mediated by integrin (GO:0033628), positive regulation of megakaryocyte differentiation (GO:0045654), positive regulation of DNA-templated transcription (GO:0045893), protein stabilization (GO:0050821), protein maturation (GO:0051604), cellular response to retinoic acid (GO:0071300), protein localization to plasma membrane (GO:0072659), cell differentiation (GO:0030154)

GO Molecular Function (7): magnesium ion binding (GO:0000287), protein kinase inhibitor activity (GO:0004860), calcium ion binding (GO:0005509), phosphatase inhibitor activity (GO:0019212), protein homodimerization activity (GO:0042803), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (10): ruffle (GO:0001726), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), lamellipodium (GO:0030027), ruffle membrane (GO:0032587), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
gene expression	2
metal ion binding	2
cell leading edge	2
plasma membrane bounded cell projection	2
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
gonad development	1
development of primary male sexual characteristics	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
myeloid cell differentiation	1
positive regulation of myeloid leukocyte differentiation	1
granulocyte differentiation	1
regulation of granulocyte differentiation	1
sodium:proton antiporter activity	1
positive regulation of sodium ion transmembrane transporter activity	1
regulation of cell adhesion	1
cell adhesion mediated by integrin	1
megakaryocyte differentiation	1
positive regulation of myeloid cell differentiation	1
regulation of megakaryocyte differentiation	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of protein stability	1
protein metabolic process	1
response to retinoic acid	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
protein localization to membrane	1
protein localization to cell periphery	1
cellular developmental process	1
protein kinase activity	1
kinase inhibitor activity	1
protein kinase regulator activity	1

Protein interactions and networks

STRING

1425 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TESC	SLC9A1	P19634	936
TESC	MAFB	Q9Y5Q3	665
TESC	ETS2	P15036	550
TESC	ETS1	P14921	533
TESC	GATA1	P15976	452
TESC	SRC	P12931	413
TESC	FBH1	Q8NFZ0	413
TESC	CD34	P28906	411
TESC	NRIP2	Q9BQI9	402
TESC	MAPK3	P27361	383
TESC	CLMN	Q96JQ2	380
TESC	GSDMC	Q9BYG8	342
TESC	UPK3A	O75631	340
TESC	SDF4	Q9BRK5	328
TESC	COPS4	Q9BT78	305

IntAct

33 interactions, top by confidence:

A	B	Type	Score
SLC9A1	TESC	psi-mi:“MI:0407”(direct interaction)	0.720
TESC	SLC9A1	psi-mi:“MI:0407”(direct interaction)	0.720
TESC	WBP11	psi-mi:“MI:0915”(physical association)	0.560
WBP11	TESC	psi-mi:“MI:0915”(physical association)	0.560
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
HMG20A	TESC	psi-mi:“MI:0915”(physical association)	0.510
TESC	HMG20A	psi-mi:“MI:0915”(physical association)	0.510
	TESC	psi-mi:“MI:0407”(direct interaction)	0.440
RAI1	TESC	psi-mi:“MI:0915”(physical association)	0.370
TESC	CCDC91	psi-mi:“MI:0915”(physical association)	0.370
DYNLT3	TESC	psi-mi:“MI:0915”(physical association)	0.370
CSAG2	CAMK2D	psi-mi:“MI:0914”(association)	0.350
PLIN2	TESC	psi-mi:“MI:0914”(association)	0.350
INSL4	SGSH	psi-mi:“MI:0914”(association)	0.350
TESC	TSPAN3	psi-mi:“MI:0915”(physical association)	0.000
TESC	POGZ	psi-mi:“MI:0915”(physical association)	0.000
TESC	MACF1	psi-mi:“MI:0915”(physical association)	0.000
TESC	FAM149A	psi-mi:“MI:0915”(physical association)	0.000
TESC	GLUL	psi-mi:“MI:0915”(physical association)	0.000
TESC	FAM149B1	psi-mi:“MI:0915”(physical association)	0.000
TESC	OPA1	psi-mi:“MI:0915”(physical association)	0.000
TESC	DST	psi-mi:“MI:0915”(physical association)	0.000
TESC	TTC3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): TESC (Two-hybrid), TESC (Two-hybrid), TESC (Two-hybrid), CCDC91 (Two-hybrid), TESC (Two-hybrid), TESC (Affinity Capture-Western), TESC (Affinity Capture-MS), TESC (Affinity Capture-MS), TESC (Far Western), SLC9A1 (Reconstituted Complex), SLC9A1 (Affinity Capture-Western), TESC (Affinity Capture-MS), TESC (Affinity Capture-MS), TESC (Affinity Capture-MS), TESC (Affinity Capture-MS)

ESM2 similar proteins: A0JN27, A5PJI5, G3MWR8, G3V9T7, O43681, O54984, O94925, P04163, P05943, P08207, P22234, P27003, P30626, P33764, P51583, P60902, P60903, P62504, P62818, P62819, Q13888, Q15303, Q2TBV5, Q2YDM2, Q3MHC2, Q5HZM6, Q5NVE6, Q5R4U9, Q5RB59, Q5RIC0, Q5TA45, Q5TDH0, Q5ZHS1, Q5ZIH0, Q61527, Q62956, Q64119, Q6NVL5, Q6P1K8, Q6PH85

Diamond homologs: A0AVX7, O43745, P42322, P61022, P61023, Q0V9B1, Q3SYS6, Q54MF3, Q5R7F0, Q5U554, Q5ZM44, Q6FLU4, Q757B7, Q810D1, Q874T7, Q96BS2, Q99653, Q9D869, Q9JKL5, A0T2M3, G5EDN6, P04464, P0CM54, P0CM55, P21797, P25296, P28470, P46065, P48451, P63098, P63099, P63100, P87072, Q24214, Q2TBI5, Q55G87, Q63810, Q63811, Q6BWS8, Q6CGE6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	5
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1706 predictions. Top by Δscore:

Variant	Effect	Δscore
12:117039206:CAGAT:C	acceptor_gain	1.0000
12:117039210:TC:T	acceptor_loss	1.0000
12:117039211:C:CC	acceptor_gain	1.0000
12:117046552:CGCT:C	donor_loss	1.0000
12:117046554:CT:C	donor_loss	1.0000
12:117046555:TCA:T	donor_loss	1.0000
12:117046556:CA:C	donor_loss	1.0000
12:117046557:ACCA:A	donor_loss	1.0000
12:117046558:C:CA	donor_loss	1.0000
12:117046558:CCAT:C	donor_gain	1.0000
12:117046666:CCT:C	acceptor_loss	1.0000
12:117046671:C:CT	acceptor_gain	1.0000
12:117046672:A:T	acceptor_gain	1.0000
12:117046834:CAGAA:C	acceptor_gain	1.0000
12:117046836:GAA:G	acceptor_gain	1.0000
12:117046836:GAAC:G	acceptor_loss	1.0000
12:117046837:AA:A	acceptor_gain	1.0000
12:117046839:C:CC	acceptor_gain	1.0000
12:117046839:CTAGG:C	acceptor_loss	1.0000
12:117046840:T:C	acceptor_loss	1.0000
12:117046844:G:GC	acceptor_gain	1.0000
12:117049007:A:AC	donor_gain	1.0000
12:117049007:AGTGG:A	donor_gain	1.0000
12:117049017:A:AC	donor_gain	1.0000
12:117049018:C:CC	donor_gain	1.0000
12:117049018:CATCT:C	donor_gain	1.0000
12:117049025:G:C	donor_gain	1.0000
12:117049034:T:TA	donor_gain	1.0000
12:117056895:C:CT	acceptor_gain	1.0000
12:117056895:C:T	acceptor_gain	1.0000

AlphaMissense

1437 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:117046605:G:T	A158D	0.999
12:117046781:C:G	R136P	0.999
12:117046799:A:C	I130S	0.999
12:117046799:A:G	I130T	0.999
12:117046799:A:T	I130N	0.999
12:117046831:G:C	F119L	0.999
12:117046831:G:T	F119L	0.999
12:117046833:A:G	F119L	0.999
12:117049024:A:G	L115P	0.999
12:117049102:A:G	L89P	0.999
12:117049104:G:C	F88L	0.999
12:117049104:G:T	F88L	0.999
12:117049105:A:G	F88S	0.999
12:117049106:A:G	F88L	0.999
12:117056847:G:C	N56K	0.999
12:117056847:G:T	N56K	0.999
12:117075303:A:C	F32L	0.999
12:117075303:A:T	F32L	0.999
12:117075304:A:G	F32S	0.999
12:117075305:A:G	F32L	0.999
12:117075316:A:G	L28P	0.999
12:117039179:A:G	M200T	0.998
12:117041953:G:C	F187L	0.998
12:117041953:G:T	F187L	0.998
12:117041954:A:G	F187S	0.998
12:117041955:A:G	F187L	0.998
12:117041969:A:C	I182S	0.998
12:117041969:A:G	I182T	0.998
12:117046585:C:G	A165P	0.998
12:117046596:G:T	A161D	0.998

dbSNP variants (sampled 300 via entrez): RS1000027491 (12:117071857 A>C), RS1000064354 (12:117069323 T>C), RS1000156292 (12:117064603 C>T), RS1000178817 (12:117069144 A>C), RS1000190171 (12:117049390 AAG>A,AAGAG), RS1000251157 (12:117087816 T>TC), RS1000266765 (12:117039877 C>T), RS1000294274 (12:117095308 C>A), RS1000338477 (12:117063841 C>G,T), RS1000393066 (12:117081962 G>T), RS1000416284 (12:117079433 G>A,T), RS1000471850 (12:117039984 C>T), RS1000550822 (12:117048560 G>A), RS1000579129 (12:117086116 T>C), RS1000601042 (12:117038931 C>A,T)

Disease associations

OMIM: gene MIM:611585 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST004599_195	Mean platelet volume	5.000000e-09
GCST006870_7	Hippocampal tail volume	2.000000e-19
GCST006871_6	Total hippocampal volume	2.000000e-35
GCST006887_1	Hippocampal subfield CA1 volume	7.000000e-28
GCST006889_2	Hippocampal subfield CA4 volume	2.000000e-24
GCST006890_1	Dentate gyrus granule cell layer volume	9.000000e-26
GCST006891_5	Dentate gyrus molecular layer volume	2.000000e-25
GCST010320_18	PR interval	9.000000e-10
GCST010321_79	PR interval	2.000000e-11
GCST010703_5	Brain morphology (MOSTest)	4.000000e-32
GCST90000025_1000	Appendicular lean mass	5.000000e-20
GCST90002395_143	Mean platelet volume	5.000000e-26
GCST90002400_732	Plateletcrit	3.000000e-16

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume
EFO:0009394	hippocampal CA1 volume
EFO:0009396	hippocampal CA4 volume
EFO:0004462	PR interval
EFO:0004346	neuroimaging measurement
EFO:0004980	appendicular lean mass
EFO:0007985	platelet crit

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
Valproic Acid	affects expression, affects cotreatment, increases expression	8
entinostat	increases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
tetrachlorodian	increases expression	1
pentabromodiphenyl ether	decreases expression	1
mono-benzyl phthalate	increases abundance, increases methylation	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, decreases expression, affects cotreatment	1
ICG 001	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
MRK 003	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Sunitinib	increases expression	1

Clinical trials (associated diseases)

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