CABP1

Summary

CABP1 (calcium binding protein 1, HGNC:1384) is a protein-coding gene on chromosome 12q24.31, encoding Calcium-binding protein 1 (Q9NZU7). Modulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors (ITPRs).

Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms.

Source: NCBI Gene 9478 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_001033677

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1384
Approved symbol	CABP1
Name	calcium binding protein 1
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000157782
Ensembl biotype	protein_coding
OMIM	605563
Entrez	9478

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000288616, ENST00000316803, ENST00000351200, ENST00000453000, ENST00000498082, ENST00000946521, ENST00000946522

RefSeq mRNA: 3 — MANE Select: NM_001033677 NM_001033677, NM_004276, NM_031205

CCDS: CCDS31913, CCDS9204, CCDS9205

Canonical transcript exons

ENST00000316803 — 6 exons

Exon	Start	End
ENSE00001127470	120659878	120659908
ENSE00001127476	120661071	120661218
ENSE00001127482	120660731	120660840
ENSE00001127490	120660196	120660339
ENSE00001256184	120640626	120641339
ENSE00001783666	120666875	120667324

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 99.18.

FANTOM5 (CAGE): breadth broad, TPM avg 5.0499 / max 503.5965, expressed in 275 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128361	2.3692	104
128359	1.4631	143
128358	0.4461	83
128365	0.3370	69
128368	0.1804	74
128360	0.1585	50
128364	0.0451	21
128369	0.0231	6
128366	0.0191	4
128367	0.0082	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	99.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.90	gold quality
prefrontal cortex	UBERON:0000451	98.62	gold quality
cingulate cortex	UBERON:0003027	98.34	gold quality
anterior cingulate cortex	UBERON:0009835	98.32	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.31	gold quality
frontal cortex	UBERON:0001870	98.24	gold quality
primary visual cortex	UBERON:0002436	98.10	gold quality
frontal pole	UBERON:0002795	98.05	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.05	gold quality
superior frontal gyrus	UBERON:0002661	97.94	gold quality
occipital lobe	UBERON:0002021	97.60	gold quality
neocortex	UBERON:0001950	97.53	gold quality
parietal lobe	UBERON:0001872	97.28	gold quality
postcentral gyrus	UBERON:0002581	97.08	gold quality
middle temporal gyrus	UBERON:0002771	96.80	gold quality
cerebral cortex	UBERON:0000956	96.40	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.39	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.06	gold quality
amygdala	UBERON:0001876	96.00	gold quality
cerebellar hemisphere	UBERON:0002245	95.45	gold quality
cerebellar cortex	UBERON:0002129	95.37	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.88	gold quality
orbitofrontal cortex	UBERON:0004167	94.72	gold quality
temporal lobe	UBERON:0001871	94.45	gold quality
cerebellum	UBERON:0002037	94.24	gold quality
telencephalon	UBERON:0001893	94.23	gold quality
Ammon’s horn	UBERON:0001954	94.09	gold quality
CA1 field of hippocampus	UBERON:0003881	93.65	gold quality
entorhinal cortex	UBERON:0002728	91.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	83.86
E-MTAB-7316	yes	12.51
E-ANND-3	yes	4.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting CABP1, 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-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-182-3P	99.57	67.57	825
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-218-1-3P	98.63	67.97	832
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-597-3P	96.46	68.03	1035
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-6851-3P	95.73	65.11	688
HSA-MIR-9899	91.24	59.59	90
HSA-MIR-6499-5P	87.01	61.21	38

Literature-anchored findings (GeneRIF, showing 13)

• enhances inactivation, causes a depolarizing shift in the voltage dependence of activation, and does not support Ca2+-dependent facilitation of Ca(v)2.1 channels (PMID:11865310)
• CaBP1 is able to specifically regulate InsP3 receptor-mediated alterations in [Ca2+]i during agonist stimulation. (PMID:14570872)
• We describe a new role for CaBP1 in regulation of Ca2+ influx through Ca(v)1.2 (L-type) Ca2+ channels. CaBP1 interacts directly with the alpha1 subunit of Ca(v)1.2 at sites that also bind Calmodulin (PMID:15140941)
• the NT and IQ-domains of alpha(1)1.2 mediate functionally distinct interactions with CaBP1 and CaM that promote conformational alterations that either stabilize or inhibit inactivation of Ca(v)1.2. (PMID:15980432)
• NMR, microcalorimetry, and other biophysical studies that characterize Ca(2+) binding, Mg(2+) binding, and structural properties of recombinant CaBP1 are reported. (PMID:16147998)
• the importance of CaBP1s in modulating the stimulus-secretion coupling in excitable cells. (PMID:17960496)
• CaBP1 may regulate Ca2+-dependent activity of inositol 1,4,5-trisphosphate receptors by promoting structural contacts between the suppressor and core domains (PMID:19008222)
• Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation. (PMID:21134641)
• CaBP1 regulates voltage-dependent inactivation and activation of Ca(V)1.2 (L-type) calcium channels (PMID:21383011)
• Present the NMR structure of full-length CaBP1 with Ca(2+) bound at the first, third, and fourth EF-hands. (PMID:21608059)
• We demonstrate that calmodulin and caldendrin compete for a partially overlapping binding site on AKAP79 and that their binding is differentially dependent on calcium (PMID:22693956)
• Different kinetics of Ca-dependent binding step between caldendrin and calmodulin with AKAP79 suggest their different roles in synaptic function. (PMID:22996592)
• the faster migrating Tg adduct C primarily engages the CaBP1/P5 oxidoreductase, whereas the slower migrating Tg adduct A primarily engages ERp72. (PMID:24599957)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	cabp1a	ENSDARG00000019990
danio_rerio	cabp1b	ENSDARG00000033411
mus_musculus	Cabp1	ENSMUSG00000029544
rattus_norvegicus	Cabp1	ENSRNOG00000001173
drosophila_melanogaster	TpnC4	FBGN0033027
drosophila_melanogaster	CG13526	FBGN0034774
drosophila_melanogaster	CG5024	FBGN0039373
drosophila_melanogaster	CG17770	FBGN0039374
drosophila_melanogaster	CG30378	FBGN0050378
caenorhabditis_elegans		WBGENE00000285
caenorhabditis_elegans		WBGENE00000287
caenorhabditis_elegans	pat-10	WBGENE00003934
caenorhabditis_elegans		WBGENE00006583
caenorhabditis_elegans		WBGENE00008453
caenorhabditis_elegans	F35C12.3	WBGENE00009408
caenorhabditis_elegans		WBGENE00015264

Paralogs (20): CABP7 (ENSG00000100314), CABP5 (ENSG00000105507), CALML4 (ENSG00000129007), CALM2 (ENSG00000143933), CETN2 (ENSG00000147400), CETN3 (ENSG00000153140), CALM3 (ENSG00000160014), CABP2 (ENSG00000167791), CALML6 (ENSG00000169885), EFCAB3 (ENSG00000172421), EFCAB12 (ENSG00000172771), CABP4 (ENSG00000175544), CETN1 (ENSG00000177143), CALML3 (ENSG00000178363), CALML5 (ENSG00000178372), CALN1 (ENSG00000183166), CALM1 (ENSG00000198668), EFCAB2 (ENSG00000203666), EFCAB7 (ENSG00000203965), EFCAB9 (ENSG00000214360)

Protein

Protein identifiers

Calcium-binding protein 1 — Q9NZU7 (reviewed: Q9NZU7)

Alternative names: Calbrain, Caldendrin

All UniProt accessions (2): C9J8G2, Q9NZU7

UniProt curated annotations — full annotation on UniProt →

Function. Modulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors (ITPRs). Inhibits agonist-induced intracellular calcium signaling. Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels. Causes calcium-dependent facilitation and inhibits inactivation of L-type calcium channels by binding to the same sites as calmodulin in the C-terminal domain of CACNA1C, but has an opposite effect on channel function. Suppresses the calcium-dependent inactivation of CACNA1D. Inhibits TRPC5 channels. Prevents NMDA receptor-induced cellular degeneration. Required for the normal transfer of light signals through the retina.

Subunit / interactions. Homodimer; when bound to calcium or magnesium. Interacts (via C-terminus) with ITPR1, ITPR2 and ITPR3. This binding is calcium dependent and the interaction correlates with calcium concentration. An additional calcium-independent interaction with the N-terminus of ITPR1 results in a decreased InsP(3) binding to the receptor. Interacts with CACNA1A (via C-terminal CDB motif) in the pre- and postsynaptic membranes. Interacts with CACNA1C (via C-terminal C and IQ motifs). The binding to the C motif is calcium independent whereas the binding to IQ requires the presence of calcium and is mutually exclusive with calmodulin binding. Interacts with CACNA1D. Interacts with TRPC5 (via C-terminus). Interacts (via EF-hands 1 and 2) at microtubules with MAP1LC3B. Interacts with MYO1C. Interacts (via EF-hands 1 and 2) with NSMF (via the central NLS-containing motif region), the interaction occurs in a calcium dependent manner after synaptic NMDA receptor stimulation and prevents nuclear import of NSMF. Interacts with SPACA9.

Subcellular location. Cytoplasm. Cytoskeleton. Perinuclear region. Cell membrane. Golgi apparatus. Postsynaptic density Cytoplasm. Cytoskeleton Cytoplasm. Cell cortex.

Tissue specificity. Retina and brain. Somatodendritic compartment of neurons. Calbrain was found exclusively in brain where it is abundant in the hippocampus, habenular area in the epithalamus and in the cerebellum.

Post-translational modifications. Phosphorylated. The phosphorylation regulates the activity.

Domain organisation. EF-1 binds magnesium constitutively under physiological conditions, EF-3 and EF-4 bind calcium cooperatively and EF-2 binds neither calcium nor magnesium.

Miscellaneous. It is currently uncertain whether calbrain represent a spliced isoform.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9NZU7-4	Caldendrin	yes
Q9NZU7-1	L-CaBP1, Caldendrin-S2
Q9NZU7-2	S-CaBP1, Caldendrin-S1
Q9NZU7-3	Calbrain

RefSeq proteins (3): NP_001028849, NP_004267, NP_112482 (=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
IPR043582	CaBP1/2/4/5	Family

Pfam: PF13499

UniProt features (69 total): binding site 22, mutagenesis site 9, helix 9, lipid moiety-binding region 5, splice variant 5, strand 5, domain 4, initiator methionine 3, compositionally biased region 3, chain 1, modified residue 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
3OX6	X-RAY DIFFRACTION	2.4
3OX5	X-RAY DIFFRACTION	2.9
2K7B	SOLUTION NMR
2K7C	SOLUTION NMR
2K7D	SOLUTION NMR
2LAN	SOLUTION NMR
2LAP	SOLUTION NMR
9ZZ4	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZU7-F1	59.24	0.02

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 (22): 238; 238; 240; 240; 242; 242; 244; 244; 249; 315; 317; 319 …

Post-translational modifications (6): 323, 2, 2, 4, 2, 4

Mutagenesis-validated functional residues (9):

Position	Phenotype
238	loss of magnesium-binding. loss of binding to itprs; when associated with a-240; a-315; a-317; a-352 and a-354.
240	loss of magnesium-binding. loss of binding to itprs; when associated with a-238; a-315; a-317; a-352 and a-354.
242	loss of magnesium-binding.
249	no effect on magnesium-binding.
315	loss of binding to itprs; when associated with a-238; a-240; a-317; a-352 and a-354.
317	loss of binding to itprs; when associated with a-238; a-240; a-315; a-352 and a-354.
323	loss of phosphorylation and loss of calcium release by insp(3).
352	loss of binding to itprs; when associated with a-238; a-240; a-315; a-317 and a-354.
354	loss of binding to itprs; when associated with a-238; a-240; a-315; a-317 and a-352.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9659379	Sensory processing of sound
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 129 (showing top): MYOGENIN_Q6, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GCANCTGNY_MYOD_Q6, GOBP_PHOTOTRANSDUCTION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_NUCLEAR_TRANSPORT, MODULE_66, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, CCANNAGRKGGC_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS

GO Biological Process (2): visual perception (GO:0007601), negative regulation of protein import into nucleus (GO:0042308)

GO Molecular Function (7): enzyme inhibitor activity (GO:0004857), calcium channel regulator activity (GO:0005246), calcium ion binding (GO:0005509), nuclear localization sequence binding (GO:0008139), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (11): Golgi membrane (GO:0000139), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cell cortex (GO:0005938), postsynaptic density (GO:0014069), perinuclear region of cytoplasm (GO:0048471), Golgi apparatus (GO:0005794), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory processing of sound	1
Sensory Perception	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	3
cell periphery	2
sensory perception of light stimulus	1
protein import into nucleus	1
regulation of protein import into nucleus	1
negative regulation of nucleocytoplasmic transport	1
negative regulation of intracellular protein transport	1
negative regulation of protein localization to nucleus	1
catalytic activity	1
enzyme regulator activity	1
molecular function inhibitor activity	1
calcium channel activity	1
ion channel regulator activity	1
metal ion binding	1
signal sequence receptor activity	1
calcium ion binding	1
protein binding	1
binding	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
membrane	1
asymmetric synapse	1
postsynaptic specialization	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cell junction	1

Protein interactions and networks

STRING

2113 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CABP1	GUCA1A	P43080	779
CABP1	CACNA1A	P78510	682
CABP1	GRK5	P34947	630
CABP1	AKAP5	P24588	585
CABP1	HCLS1	P14317	530
CABP1	CTTN	Q14247	524
CABP1	S100G	P29377	522
CABP1	NCS1	P36610	522
CABP1	CALML4	Q96GE6	519
CABP1	GUF1	Q8N442	515
CABP1	CALML6	Q8TD86	512
CABP1	HPCA	P32076	492
CABP1	PDIA4	P13667	474
CABP1	CALML5	Q9NZT1	457
CABP1	RHO	P08100	449

IntAct

9 interactions, top by confidence:

A	B	Type	Score
CABP1	CACNA1C	psi-mi:“MI:0915”(physical association)	0.520
CACNA1C	CABP1	psi-mi:“MI:0915”(physical association)	0.520
CABP1	CNP	psi-mi:“MI:0915”(physical association)	0.400
CABP1	USP4	psi-mi:“MI:0914”(association)	0.350
CABP1	SP1	psi-mi:“MI:0915”(physical association)	0.000
FOS	CABP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): USP4 (Affinity Capture-MS), CACNA1C (Reconstituted Complex), CABP1 (Reconstituted Complex), CABP1 (Affinity Capture-Western), CABP1 (Affinity Capture-Western), CABP1 (Reconstituted Complex), CACNA1A (Affinity Capture-Western), CACNA1A (Two-hybrid), CABP1 (Affinity Capture-RNA), ATPAF2 (Affinity Capture-MS), CABP1 (Reconstituted Complex), USP4 (Affinity Capture-MS), CABP1 (Biochemical Activity), GRK5 (Reconstituted Complex), CABP1 (Co-fractionation)

ESM2 similar proteins: A0A8I5KY20, A4IHR5, A7UKY7, A8IHN8, D3YYI7, G3V9M2, O43559, P39881, P49796, Q13387, Q14DQ1, Q2TAM9, Q32KV8, Q3UPL5, Q4VA45, Q5VUJ9, Q5VV17, Q5XKK7, Q62392, Q673H1, Q6NV74, Q6PJ61, Q6QHK4, Q6UXB0, Q7Z6J2, Q80TE3, Q86SH2, Q8BWU3, Q8CE64, Q8IWP9, Q8N554, Q8NFT6, Q8R4T5, Q8TC41, Q8VCC6, Q8WV24, Q96HA4, Q96IQ9, Q96SQ7, Q96T92

Diamond homologs: A6QLU1, A7DZP8, D2DGW3, O14400, O23320, O74435, O86963, O88751, P02597, P04464, P06707, P0DB20, P0DB21, P13035, P18158, P21797, P29289, P29291, P32191, P35571, P35596, P43304, P52111, P53435, P54213, P60204, P60205, P60206, P64183, P64185, P74257, P90795, P91938, P9WN78, P9WN79, P9WN80, P9WN81, Q0IQB6, Q0IUU4, Q1A7B1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

919 predictions. Top by Δscore:

Variant	Effect	Δscore
12:120656071:A:AG	acceptor_gain	1.0000
12:120656071:ATTT:A	acceptor_gain	1.0000
12:120656072:T:G	acceptor_gain	1.0000
12:120656074:T:TA	acceptor_gain	1.0000
12:120656079:G:A	acceptor_gain	1.0000
12:120656081:T:TA	acceptor_gain	1.0000
12:120656084:T:A	acceptor_gain	1.0000
12:120656269:GCCT:G	donor_gain	1.0000
12:120656273:GTAC:G	donor_gain	1.0000
12:120656277:G:GG	donor_gain	1.0000
12:120660186:A:AG	acceptor_gain	1.0000
12:120660187:C:G	acceptor_gain	1.0000
12:120660191:CCCA:C	acceptor_loss	1.0000
12:120660191:CCCAG:C	acceptor_gain	1.0000
12:120660193:CAG:C	acceptor_gain	1.0000
12:120660193:CAGAG:C	acceptor_loss	1.0000
12:120660194:A:AG	acceptor_gain	1.0000
12:120660194:AGA:A	acceptor_gain	1.0000
12:120660195:G:C	acceptor_gain	1.0000
12:120660195:G:GA	acceptor_gain	1.0000
12:120660195:GA:G	acceptor_gain	1.0000
12:120660195:GAGC:G	acceptor_gain	1.0000
12:120660195:GAGCT:G	acceptor_gain	1.0000
12:120660335:GAACC:G	donor_gain	1.0000
12:120660336:AACC:A	donor_gain	1.0000
12:120660337:ACC:A	donor_gain	1.0000
12:120660338:CC:C	donor_gain	1.0000
12:120660339:CG:C	donor_loss	1.0000
12:120660340:G:GG	donor_gain	1.0000
12:120660340:GTG:G	donor_loss	1.0000

AlphaMissense

2363 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:120660199:T:A	L230H	1.000
12:120660199:T:C	L230P	1.000
12:120660210:T:C	F234L	1.000
12:120660211:T:C	F234S	1.000
12:120660212:C:A	F234L	1.000
12:120660212:C:G	F234L	1.000
12:120660219:T:C	F237L	1.000
12:120660220:T:C	F237S	1.000
12:120660221:C:A	F237L	1.000
12:120660221:C:G	F237L	1.000
12:120660244:T:A	I245N	1.000
12:120660259:T:C	L250P	1.000
12:120660262:G:A	G251D	1.000
12:120660269:C:G	C253W	1.000
12:120660271:T:A	M254K	1.000
12:120660271:T:C	M254T	1.000
12:120660271:T:G	M254R	1.000
12:120660272:G:A	M254I	1.000
12:120660272:G:C	M254I	1.000
12:120660272:G:T	M254I	1.000
12:120660273:C:A	R255S	1.000
12:120660274:G:C	R255P	1.000
12:120660282:G:C	G258R	1.000
12:120660282:G:T	G258C	1.000
12:120660283:G:A	G258D	1.000
12:120660283:G:T	G258V	1.000
12:120660291:C:A	P261T	1.000
12:120660291:C:T	P261S	1.000
12:120660292:C:A	P261H	1.000
12:120660292:C:G	P261R	1.000

dbSNP variants (sampled 300 via entrez): RS1000039320 (12:120667857 G>T), RS1000059539 (12:120669679 G>A), RS1000069099 (12:120674076 C>A), RS1000297228 (12:120676176 T>C), RS1000301700 (12:120647291 T>A), RS1000351842 (12:120647509 C>T), RS1000384246 (12:120664294 G>C), RS1000410500 (12:120667366 A>AC), RS1000467319 (12:120640447 T>A,C), RS1000538271 (12:120653917 A>G), RS1000631170 (12:120641247 C>G,T), RS1000721446 (12:120659334 C>T), RS1000786168 (12:120673800 G>A,C), RS1000816720 (12:120659484 T>C,G), RS1000890189 (12:120655766 C>T)

Disease associations

OMIM: gene MIM:605563 | 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)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases methylation	1
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
ochratoxin A	increases acetylation, increases expression	1
benzo(e)pyrene	increases methylation	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Lead	affects expression	1
Methapyrilene	increases methylation	1
Oxygen	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Valproic Acid	decreases methylation	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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