CAPS

Summary

CAPS (calcyphosine, HGNC:1487) is a protein-coding gene on chromosome 19p13.3, encoding Calcyphosin (Q13938). Calcium-binding protein.

This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants.

Source: NCBI Gene 828 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 66 total
• GTEx eGene: eQTL in 37 tissues, sQTL in 21 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.46 (unconstrained)
• MANE Select transcript: NM_004058
• Notable: 66 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1487
Approved symbol	CAPS
Name	calcyphosine
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	CAPS1, MGC126562
Ensembl gene	ENSG00000105519
Ensembl biotype	protein_coding
OMIM	114212
Entrez	828

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 2 retained_intron

MANE Select: ENST00000588776

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 1, TSL 5: 1

ENST00000588776, ENST00000452990, ENST00000585541, ENST00000588865, ENST00000590428, ENST00000852353, ENST00000852354, ENST00000852355, ENST00000852356, ENST00000852357, ENST00000852358, ENST00000961097

RefSeq mRNA: 2 — MANE Select: NM_004058 NM_004058, NM_080590

CCDS: CCDS12156, CCDS45934

Canonical transcript exons

ENST00000588776 — 5 exons

Exon	Start	End
ENSE00000666175	5914940	5915146
ENSE00002930628	5914254	5914309
ENSE00003796938	5914563	5914740
ENSE00003844488	5914385	5914489
ENSE00004794353	5915221	5916211

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 99.94.

FANTOM5 (CAGE): breadth broad, TPM avg 6.7864 / max 591.2492, expressed in 605 samples.

Highest expression (Bgee): bronchial epithelial cell, bronchus, uterine tube, olfactory segment of nasal mucosa, nasal cavity epithelium.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CAPS is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 37 tissues and its splicing (sQTL) in 21 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 58 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	1.1e-81	+0.98	19:5911036:A:C
Esophagus Mucosa	eqtl	1.9e-38	+0.37	19:5891041:T:C
Esophagus Muscularis	eqtl	5.8e-36	+0.47	19:5909781:C:G
Heart Atrial Appendage	eqtl	1.4e-32	+0.65	19:5909781:C:G
Skin Not Sun Exposed Suprapubic	eqtl	8.4e-25	+0.29	19:5907538:C:T
Cells EBV-transformed lymphocytes	eqtl	1.2e-24	+0.40	19:5904058:G:A
Thyroid	eqtl	6.0e-23	+0.27	19:5909769:T:C
Skin Sun Exposed Lower leg	eqtl	8.7e-22	+0.29	19:5907570:T:C
Colon Transverse	eqtl	2.0e-21	+0.33	19:5909769:T:C
Artery Tibial	eqtl	2.1e-18	+0.25	19:5909769:T:C
Whole Blood	eqtl	2.9e-18	+0.18	19:5909769:T:C
Esophagus Gastroesophageal Junction	eqtl	1.7e-17	+0.50	19:5912151:T:C
Pancreas	eqtl	3.4e-15	+0.29	19:5908150:T:C
Nerve Tibial	sqtl	2.6e-14	-0.67	19:5911036:A:C
Thyroid	sqtl	5.1e-13	+0.73	19:5913815:C:T
Pituitary	eqtl	6.2e-13	+0.31	19:5909769:T:C
Spleen	eqtl	9.1e-13	+0.25	19:5908437:A:C
Skin Sun Exposed Lower leg	sqtl	1.3e-12	+0.81	19:5921341:G:A
Adipose Visceral Omentum	eqtl	2.5e-12	+0.22	19:5912801:G:T
Adipose Subcutaneous	eqtl	4.7e-11	+0.23	19:5898602:A:G

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
173439	6.6301	597
173438	0.1270	58
173440	0.0292	14

Top tissues by expression

showing 100 of 245 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.94	gold quality
bronchus	UBERON:0002185	99.88	gold quality
right uterine tube	UBERON:0001302	99.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.54	gold quality
nasal cavity epithelium	UBERON:0005384	98.89	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.54	gold quality
trachea	UBERON:0003126	98.38	gold quality
pancreatic ductal cell	CL:0002079	97.80	silver quality
oviduct epithelium	UBERON:0004804	96.69	gold quality
nasal cavity mucosa	UBERON:0001826	96.58	gold quality
fallopian tube	UBERON:0003889	96.53	gold quality
superior vestibular nucleus	UBERON:0007227	95.60	gold quality
tibial nerve	UBERON:0001323	94.92	gold quality
epithelium of nasopharynx	UBERON:0001951	94.68	gold quality
vena cava	UBERON:0004087	94.25	gold quality
kidney epithelium	UBERON:0004819	94.16	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	94.02	gold quality
spinal cord	UBERON:0002240	93.93	gold quality
tendon of biceps brachii	UBERON:0008188	93.06	gold quality
medulla oblongata	UBERON:0001896	93.00	gold quality
seminal vesicle	UBERON:0000998	92.81	gold quality
left ventricle myocardium	UBERON:0006566	92.60	gold quality
left uterine tube	UBERON:0001303	92.33	gold quality
body of stomach	UBERON:0001161	92.21	gold quality
fundus of stomach	UBERON:0001160	92.07	gold quality
ventral tegmental area	UBERON:0002691	91.76	gold quality
right lung	UBERON:0002167	91.66	gold quality
cardia of stomach	UBERON:0001162	91.55	gold quality
parotid gland	UBERON:0001831	91.35	silver quality
caput epididymis	UBERON:0004358	91.21	gold quality
renal medulla	UBERON:0000362	91.18	gold quality
granulocyte	CL:0000094	91.17	gold quality
hypothalamus	UBERON:0001898	91.14	gold quality
metanephros cortex	UBERON:0010533	90.71	gold quality
inferior vagus X ganglion	UBERON:0005363	90.43	gold quality
left lobe of thyroid gland	UBERON:0001120	90.10	gold quality
right lobe of thyroid gland	UBERON:0001119	90.02	gold quality
stomach	UBERON:0000945	90.01	gold quality
urinary bladder	UBERON:0001255	89.62	gold quality
pituitary gland	UBERON:0000007	89.60	gold quality
thyroid gland	UBERON:0002046	89.58	gold quality
adult organism	UBERON:0007023	89.48	gold quality
adenohypophysis	UBERON:0002196	89.47	gold quality
subthalamic nucleus	UBERON:0001906	89.46	gold quality
palpebral conjunctiva	UBERON:0001812	89.29	gold quality
midbrain	UBERON:0001891	89.29	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.29	gold quality
substantia nigra	UBERON:0002038	89.19	gold quality
pylorus	UBERON:0001166	88.94	gold quality
amniotic fluid	UBERON:0000173	88.89	gold quality
prostate gland	UBERON:0002367	88.82	gold quality
saliva-secreting gland	UBERON:0001044	88.63	gold quality
pons	UBERON:0000988	88.50	gold quality
minor salivary gland	UBERON:0001830	88.42	gold quality
layer of synovial tissue	UBERON:0007616	88.17	gold quality
tongue	UBERON:0001723	88.16	gold quality
Ammon’s horn	UBERON:0001954	88.07	gold quality
caudate nucleus	UBERON:0001873	88.05	gold quality
metanephros	UBERON:0000081	88.00	gold quality
superior surface of tongue	UBERON:0007371	87.92	gold quality
endocervix	UBERON:0000458	87.88	gold quality
cerebellar vermis	UBERON:0004720	87.83	silver quality
endometrium	UBERON:0001295	87.68	gold quality
amygdala	UBERON:0001876	87.65	gold quality
substantia nigra pars reticulata	UBERON:0001966	87.65	gold quality
body of tongue	UBERON:0011876	87.65	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.62	silver quality
adult mammalian kidney	UBERON:0000082	87.57	gold quality
lateral globus pallidus	UBERON:0002476	87.53	silver quality
spleen	UBERON:0002106	87.51	gold quality
right adrenal gland	UBERON:0001233	87.47	gold quality
lower esophagus mucosa	UBERON:0035834	87.44	gold quality
buccal mucosa cell	CL:0002336	87.40	gold quality
pericardium	UBERON:0002407	87.26	gold quality
mucosa of transverse colon	UBERON:0004991	87.12	gold quality
dorsal root ganglion	UBERON:0000044	87.11	gold quality
mouth mucosa	UBERON:0003729	87.04	gold quality
right adrenal gland cortex	UBERON:0035827	87.01	gold quality
substantia nigra pars compacta	UBERON:0001965	86.91	silver quality
superficial temporal artery	UBERON:0001614	86.68	silver quality
adrenal cortex	UBERON:0001235	86.57	gold quality
right lobe of liver	UBERON:0001114	86.52	gold quality
trigeminal ganglion	UBERON:0001675	86.42	gold quality
cortex of kidney	UBERON:0001225	86.34	gold quality
lateral nuclear group of thalamus	UBERON:0002736	86.26	silver quality
left adrenal gland cortex	UBERON:0035825	86.06	gold quality
left adrenal gland	UBERON:0001234	85.94	gold quality
body of pancreas	UBERON:0001150	85.91	gold quality
thymus	UBERON:0002370	85.48	silver quality
mucosa of stomach	UBERON:0001199	85.46	gold quality
globus pallidus	UBERON:0001875	85.32	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.32	gold quality
urethra	UBERON:0000057	85.25	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.25	gold quality
skin of leg	UBERON:0001511	85.21	gold quality
apex of heart	UBERON:0002098	85.17	gold quality
upper lobe of left lung	UBERON:0008952	85.10	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.10	gold quality
lower esophagus	UBERON:0013473	85.08	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.08	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-HCAD-15	yes	7159.99
E-MTAB-10283	yes	6028.90
E-MTAB-10287	yes	5399.68
E-CURD-126	yes	5160.71
E-CURD-114	yes	4874.52
E-MTAB-6653	yes	4392.74
E-HCAD-1	yes	4282.69
E-MTAB-8221	yes	4272.67
E-MTAB-6701	yes	3358.78
E-CURD-122	yes	2752.58
E-MTAB-6308	yes	2347.85
E-HCAD-38	yes	1894.99
E-GEOD-130148	yes	1780.88
E-HCAD-10	yes	19.66
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 135 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Fallopian tube	tissue	314.9	high
Pons	tissue	260.5
Cerebral cortex	tissue	259.9	medium
Postcentral gyrus	tissue	259.9
Medulla oblongata	tissue	191.4
Retina	tissue	170.8
Locus coeruleus	tissue	170.3
Midbrain	tissue	167.1
Substantia nigra	tissue	167.1
Occipital cortex	tissue	164.2
Thalamus	tissue	155.1
Basal ganglia	tissue	149.8	low
Hippocampal formation	tissue	143.5
Hypothalamus	tissue	142.3
Amygdala	tissue	131.3
Cerebellum	tissue	120.4	high
Hippocampus	tissue	113.4	low
Retrosplenial cortex	tissue	110.0
Choroid plexus	tissue	90.7	low
Spinal cord	tissue	81.5
Nucleus accumbens	tissue	62.3
Putamen	tissue	61.3
Spinal cord	tissue	41.2
Periaqueductal gray	tissue	39.6
Pituitary gland	tissue	38.8
Locus coeruleus	tissue	36.0
Pituitary gland	tissue	35.6
Hypothalamus	tissue	34.2
Cervix	tissue	33.4	low
Hippocampus	tissue	32.3	not detected
Lung	tissue	29.8	low
Seminal vesicle	tissue	29.1	not detected
Nucleus accumbens	tissue	28.2
Thalamus	tissue	27.3
Pons	tissue	26.6
Medulla oblongata	tissue	25.9
Substantia nigra	tissue	25.2
Stomach 1	tissue	21.9	not detected
Endometrium 1	tissue	20.4	medium
Midbrain	tissue	20.1
Salivary gland	tissue	18.5	not detected
Urinary bladder	tissue	18.3	not detected
Superior colliculi	tissue	17.9
Vagina	tissue	16.7	not detected
Septum	tissue	16.5
Hippocampal formation	tissue	15.8
Adrenal gland	tissue	15.5	not detected
Prostate	tissue	15.3	not detected
Basal ganglia	tissue	13.9	not detected
Skin 1	tissue	12.9	not detected
Spleen	tissue	12.8	not detected
Pancreas	tissue	12.3	high
Lymph node	tissue	11.4	not detected
Amygdala	tissue	11.4
Heart muscle	tissue	11.3	low
Thyroid gland	tissue	11.0	not detected
Pancreas	tissue	10.6	not detected
Gallbladder	tissue	10.5	not detected
Appendix	tissue	10.3	not detected
Corpus callosum	tissue	10.2

Brain sub-regions (HPA Brain Atlas): detected in 378; highest nTPM — Nuclei of the trapezoid body (260.5), Nucleus raphe magnus (258.6), Pontine nuclei (252.9), Lateral lemniscal nuclei (219.5), Ventral periolivary nuclei (213.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CAPS by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

22 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-3663-5P	97.01	64.84	713
HSA-MIR-4485-5P	95.91	59.69	198
HSA-MIR-4471	95.11	66.84	755
HSA-MIR-8059	95.11	66.30	646

Functional genomics

gnomAD constraint: pLI 1.7e-06, LOEUF 1.46, missense Z -0.259 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000588776 — one region, missense o/e 1.06.

Literature-anchored findings (GeneRIF, showing 5)

• Results demonstrated the ubiquitous overexpressions of E-FABP and CAPS in EC and the correlations to the clinicopathologic parameters. CAPS might be a potential prognostic factor for survival in patients with EC (PMID:18729184)
• These results describe the crystal structure of Ca(2+)-loaded calcyphosine up to 2.65 A resolution and reveal a protein containing two pairs of Ca(2+)-binding EF-hand motifs. (PMID:18775726)
• The calcyphosine crystal diffracted to 2.8 A and belonged to space group P2(1)2(1)2, with the unit cell parameters a=70.39 A, b=132.02 A, c=46.20 A. (PMID:19275752)
• The results indicated that the autosomal recessive homozygous mutation, p.Leu127Trpfs, in CAPS might be a maternal effect causative mutation of RPL pathogenesis. (PMID:30339840)
• Calcyphosine promotes the proliferation of glioma cells and serves as a potential therapeutic target. (PMID:34370292)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	TpnC47D	FBGN0010423
drosophila_melanogaster	TpnC73F	FBGN0010424
drosophila_melanogaster	TpnC41C	FBGN0013348

Paralogs (5): PHF24 (ENSG00000122733), CAPSL (ENSG00000152611), CAPS2 (ENSG00000180881), EFCAB6 (ENSG00000186976), SPATA21 (ENSG00000187144)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Mus musculus	Q6P8Y1	94.7%	Diamond
Bos taurus	Q0VCC0	88.9%	Diamond
Oryctolagus cuniculus	P41150	87.8%	Diamond
Macaca fascicularis	Q9GKR6	80.9%	Diamond
Canis lupus familiaris	P10463	80.4%	Diamond
Faxonius limosus	P80363	70.2%	Diamond
Homarus americanus	P80364	70.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
RANBP3-DT	ncRNA	100128568
RFX2-AS1	ncRNA	139281648
MLLT1	protein-coding	4298
RFX2	protein-coding	5990
ACSBG2	protein-coding	81616
RANBP3	protein-coding	8498
VMAC	protein-coding	400673
NDUFA11	protein-coding	126328
FUT3	protein-coding	2525
FUT5	protein-coding	2527

Protein

Protein identifiers

Calcyphosin — Q13938 (reviewed: Q13938)

Alternative names: Calcyphosine

All UniProt accessions (4): A0A384NYV7, A0A499FJ41, Q13938, K7ES72

UniProt curated annotations — full annotation on UniProt →

Function. Calcium-binding protein. May play a role in cellular signaling events (Potential).

Subunit / interactions. Monomer. Does not form oligomers in the presence of calcium.

Subcellular location. Cytoplasm.

Isoforms (3)

UniProt ID	Names	Canonical?
Q13938-1	1	yes
Q13938-3	2
Q13938-4	3

RefSeq proteins (2): NP_004049, NP_542157 (=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
IPR051581	Ca-bind	Family

Pfam: PF13499

UniProt features (42 total): binding site 14, helix 12, domain 4, strand 3, splice variant 2, sequence variant 2, turn 2, chain 1, modified residue 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
3E3R	Crystal structure and biochemical characterization of recombinant human calcyphosine …	X-RAY DIFFRACTION	2.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13938-F1	69.49	0.04

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; plasma membrane

Antibody reliability (HPA): IH enhanced · IF supported

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 (14)

Position	Role
131	Ca(2+)
156	Ca(2+)
158	Ca(2+)
160	Ca(2+)
162	Ca(2+)
167	Ca(2+)
192	Ca(2+)
194	Ca(2+)
196	Ca(2+)
203	Ca(2+)
120	Ca(2+)
122	Ca(2+)
124	Ca(2+)
126	Ca(2+)

Post-translational modifications (1)

Type	Positions
Phosphoserine	126

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 73 (showing top): CHANDRAN_METASTASIS_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, WTGAAAT_UNKNOWN, AACTTT_UNKNOWN, CREBP1_01, chr19p13, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, WHITFIELD_CELL_CYCLE_S, BCAT_BILD_ET_AL_UP, MYC_UP.V1_UP, SRC_UP.V1_UP, GLI1_TARGET_GENES, HES2_TARGET_GENES, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2

GO Biological Process (1): intracellular signal transduction (GO:0035556)

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

GO Cellular Component (3): cytosol (GO:0005829), vesicle (GO:0031982), cytoplasm (GO:0005737)

GO top-level categories

7 GO namespaces:

Category	Terms
intracellular anatomical structure	2
cellular anatomical structure	2
signal transduction	1
metal ion binding	1
cation binding	1
cytoplasm	1
membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 6 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
cytosol	CC	direct assay
vesicle	CC	high-throughput assay

Protein interactions and networks

STRING

showing 15 of 740 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAPS	CATSPERD	Q86XM0	420
CAPS	CFAP53	Q96M91	418
CAPS	RSPH1	Q8WYR4	411
CAPS	Q32Q12	Q32Q12	403
CAPS	MNS1	Q8NEH6	400
CAPS	CIMAP3	Q8TCI5	398
CAPS	TPPP3	Q9BW30	397
CAPS	X6REF7	X6REF7	394
CAPS	CAPS2	Q9BXY5	354
CAPS	CAPG	P40121	353
CAPS	RAD1	O60671	343
CAPS	CFAP43	Q8NDM7	322
CAPS	ZCCHC9	Q8N567	318
CAPS	SERPINB1	P30740	317
CAPS	DYNLRB2	Q8TF09	315

IntAct

Human interaction partners of CAPS in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
TUBAL3	association	0.350	2
RAB6C	association	0.350	1
TBC1D28	association	0.350	1

BioGRID (29 interactions; top human partners by supporting records): TUBB2B (Affinity Capture-MS; 3 records), CDH1 (Proximity Label-MS), DDX39A (Affinity Capture-RNA), DLGAP5 (Affinity Capture-MS), EZH2 (Affinity Capture-MS), FOXO1 (Proximity Label-MS), HEXB (Affinity Capture-MS), HTRA4 (Affinity Capture-MS), IGSF8 (Affinity Capture-MS), PRNP (Affinity Capture-MS), SUCLG2 (Affinity Capture-MS), TBC1D28 (Affinity Capture-MS), TUBA1A (Affinity Capture-MS), TUBA1C (Affinity Capture-MS), TUBA4A (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for CAPS: 66 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	6
Benign	3

AlphaMissense

329 missense substitutions predicted likely pathogenic (of 1,239 scored), across 109 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F248	8	0.920	0.988
F188	8	0.913	0.994
F234	8	0.851	0.970
D192	8	0.780	0.884
F265	7	0.932	0.988
W273	7	0.931	0.979
F230	7	0.867	0.964
F168	7	0.859	0.967
F116	7	0.828	0.925
D262	7	0.746	0.859
D203	7	0.739	0.759
D120	7	0.735	0.806
D156	6	0.746	0.816
M176	6	0.706	0.733
E247	6	0.705	0.823
D235	6	0.647	0.725
S256	5	0.934	0.979
C101	5	0.813	0.923
W155	5	0.804	0.904
V243	5	0.802	0.935

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Uterine Corpus Endometrial Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	unfavorable	1.41e-06
Glioblastoma Multiforme (validation)	favorable	0.0008

Disease associations

OMIM: gene MIM:114212 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	3
bisphenol A	decreases methylation, increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Estradiol	increases expression, decreases expression	2
Genistein	increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
methylmercuric chloride	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	decreases expression	1
deguelin	decreases expression	1
pyrimidifen	decreases expression	1
clothianidin	decreases expression	1
abrine	decreases expression	1
pyrachlostrobin	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Antimycin A	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Ethinyl Estradiol	increases expression	1
Hydrogen Peroxide	affects expression	1
Niclosamide	increases expression	1
Paraquat	decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.