CAST
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Summary
CAST (calpastatin, HGNC:1515) is a long non-coding RNA gene on chromosome 5q15. Specific inhibition of calpain (calcium-dependent cysteine protease).
The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described.
Source: NCBI Gene 831 — RefSeq curated summary.
At a glance
- Gene type: non-coding (lncRNA) — no protein product.
- GTEx eGene: eQTL in 48 tissues, sQTL in 50 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.21 (unconstrained)
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1515 |
| Approved symbol | CAST |
| Name | calpastatin |
| Location | 5q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000153113 |
| Ensembl biotype | lncRNA |
| OMIM | 114090 |
| Entrez | 831 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 lncRNA
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 2: 1, TSL 3: 2, TSL 4: 1, TSL 5: 1
ENST00000502645, ENST00000507997, ENST00000511775, ENST00000513158, ENST00000513926, ENST00000718075, ENST00000718076, ENST00000718077, ENST00000718089, ENST00000718090, ENST00000718092
RefSeq mRNA: 0
Canonical transcript exons
ENST00000502645 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002030802 | 96379566 | 96379652 |
| ENSE00002058049 | 96318473 | 96318544 |
| ENSE00002082950 | 95962001 | 95962036 |
| ENSE00002459286 | 96308724 | 96308882 |
| ENSE00004034055 | 96110934 | 96111005 |
| ENSE00004034056 | 96381043 | 96381384 |
Expression profiles
Bgee: expression breadth ubiquitous, 301 present calls, max score 99.48.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4512 / max 65.3159, expressed in 153 samples.
Highest expression (Bgee): calcaneal tendon, bronchial epithelial cell, colonic epithelium, penis, synovial joint.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CAST is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 48 tissues and its splicing (sQTL) in 50 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 98 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Adipose Subcutaneous | sqtl | 0.0e+00 | +1.49 | 5:96740783:G:A |
| Adipose Visceral Omentum | sqtl | 0.0e+00 | +1.45 | 5:96740783:G:A |
| Artery Tibial | sqtl | 0.0e+00 | +1.51 | 5:96740783:G:A |
| Cells Cultured fibroblasts | sqtl | 0.0e+00 | +1.56 | 5:96740783:G:A |
| Esophagus Mucosa | sqtl | 0.0e+00 | +1.59 | 5:96740783:G:A |
| Lung | sqtl | 0.0e+00 | +1.52 | 5:96740783:G:A |
| Muscle Skeletal | sqtl | 0.0e+00 | +1.52 | 5:96740783:G:A |
| Nerve Tibial | sqtl | 0.0e+00 | +1.49 | 5:96740783:G:A |
| Skin Sun Exposed Lower leg | sqtl | 0.0e+00 | +1.51 | 5:96740783:G:A |
| Thyroid | sqtl | 0.0e+00 | +1.53 | 5:96740783:G:A |
| Whole Blood | sqtl | 0.0e+00 | +1.57 | 5:96740783:G:A |
| Esophagus Muscularis | sqtl | 3.7e-313 | +1.52 | 5:96740783:G:A |
| Breast Mammary Tissue | sqtl | 1.3e-291 | +1.53 | 5:96740783:G:A |
| Colon Transverse | sqtl | 2.0e-288 | +1.54 | 5:96725995:C:T |
| Heart Atrial Appendage | sqtl | 5.0e-278 | +1.55 | 5:96740783:G:A |
| Artery Aorta | sqtl | 6.2e-262 | +1.43 | 5:96725995:C:T |
| Heart Left Ventricle | sqtl | 3.6e-221 | +1.63 | 5:96740783:G:A |
| Skin Not Sun Exposed Suprapubic | sqtl | 3.7e-211 | +1.49 | 5:96740783:G:A |
| Esophagus Gastroesophageal Junction | sqtl | 6.3e-208 | +1.52 | 5:96725995:C:T |
| Colon Sigmoid | sqtl | 9.3e-178 | +1.56 | 5:96725995:C:T |
FANTOM5 promoters
showing 10 of 29 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57691 | 31.0303 | 1741 |
| 57683 | 21.0097 | 1716 |
| 57685 | 11.9371 | 1575 |
| 57684 | 10.1740 | 1542 |
| 57687 | 7.8136 | 1367 |
| 57692 | 6.1030 | 1526 |
| 57686 | 4.1457 | 1394 |
| 57680 | 2.8925 | 1240 |
| 57678 | 2.7366 | 1235 |
| 57682 | 2.4591 | 1168 |
Top tissues by expression
showing 100 of 301 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.48 | gold quality |
| bronchial epithelial cell | CL:0002328 | 99.39 | gold quality |
| colonic epithelium | UBERON:0000397 | 99.34 | gold quality |
| penis | UBERON:0000989 | 99.33 | gold quality |
| synovial joint | UBERON:0002217 | 99.25 | gold quality |
| oral cavity | UBERON:0000167 | 99.23 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.23 | gold quality |
| urethra | UBERON:0000057 | 99.21 | gold quality |
| upper leg skin | UBERON:0004262 | 99.20 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.12 | gold quality |
| bronchus | UBERON:0002185 | 99.09 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.08 | gold quality |
| skin of hip | UBERON:0001554 | 99.07 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.05 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.04 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.03 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.00 | gold quality |
| upper arm skin | UBERON:0004263 | 98.98 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.98 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.96 | gold quality |
| nasopharynx | UBERON:0001728 | 98.94 | gold quality |
| myocardium | UBERON:0002349 | 98.93 | gold quality |
| gingiva | UBERON:0001828 | 98.92 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.91 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.89 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.89 | gold quality |
| vagina | UBERON:0000996 | 98.87 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.86 | gold quality |
| monocyte | CL:0000576 | 98.81 | gold quality |
| tendon | UBERON:0000043 | 98.81 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.78 | gold quality |
| mononuclear cell | CL:0000842 | 98.77 | gold quality |
| caput epididymis | UBERON:0004358 | 98.77 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.77 | gold quality |
| body of tongue | UBERON:0011876 | 98.77 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 98.75 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.74 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.73 | gold quality |
| biceps brachii | UBERON:0001507 | 98.71 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.71 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.71 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.70 | gold quality |
| leukocyte | CL:0000738 | 98.69 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.69 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.68 | gold quality |
| rectum | UBERON:0001052 | 98.67 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.66 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.62 | gold quality |
| urinary bladder | UBERON:0001255 | 98.61 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.60 | gold quality |
| zone of skin | UBERON:0000014 | 98.59 | gold quality |
| cervix epithelium | UBERON:0004801 | 98.57 | gold quality |
| heart | UBERON:0000948 | 98.56 | gold quality |
| tongue | UBERON:0001723 | 98.53 | gold quality |
| tonsil | UBERON:0002372 | 98.53 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.52 | gold quality |
| skin of leg | UBERON:0001511 | 98.52 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.51 | gold quality |
| muscle of leg | UBERON:0001383 | 98.50 | gold quality |
| mammary duct | UBERON:0001765 | 98.50 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 98.50 | gold quality |
| parietal pleura | UBERON:0002400 | 98.49 | gold quality |
| bone marrow cell | CL:0002092 | 98.47 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.45 | gold quality |
| esophagus | UBERON:0001043 | 98.44 | gold quality |
| jejunum | UBERON:0002115 | 98.44 | gold quality |
| blood vessel layer | UBERON:0004797 | 98.44 | gold quality |
| pleura | UBERON:0000977 | 98.42 | gold quality |
| deltoid | UBERON:0001476 | 98.42 | gold quality |
| sural nerve | UBERON:0015488 | 98.41 | gold quality |
| saphenous vein | UBERON:0007318 | 98.39 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.38 | gold quality |
| visceral pleura | UBERON:0002401 | 98.33 | gold quality |
| uterine cervix | UBERON:0000002 | 98.32 | gold quality |
| mammary gland | UBERON:0001911 | 98.32 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 98.32 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.31 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.31 | gold quality |
| eye | UBERON:0000970 | 98.27 | gold quality |
| popliteal artery | UBERON:0002250 | 98.26 | gold quality |
| tibial artery | UBERON:0007610 | 98.26 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.25 | gold quality |
| oviduct epithelium | UBERON:0004804 | 98.25 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.25 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.23 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.22 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.22 | gold quality |
| mouth mucosa | UBERON:0003729 | 98.22 | gold quality |
| vena cava | UBERON:0004087 | 98.22 | gold quality |
| artery | UBERON:0001637 | 98.20 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.20 | gold quality |
| pericardium | UBERON:0002407 | 98.17 | gold quality |
| apex of heart | UBERON:0002098 | 98.13 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.12 | gold quality |
| superior surface of tongue | UBERON:0007371 | 98.11 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.10 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.10 | gold quality |
| aorta | UBERON:0000947 | 98.09 | gold quality |
| hair follicle | UBERON:0002073 | 98.09 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 23.61 |
| E-MTAB-9388 | yes | 11.26 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 80 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Esophagus | tissue | 322.1 | medium |
| Heart muscle | tissue | 284.3 | medium |
| Skeletal muscle | tissue | 184.2 | medium |
| Vagina | tissue | 175.3 | medium |
| Tongue | tissue | 155.3 | |
| Colon | tissue | 150.1 | medium |
| Skin 1 | tissue | 148.7 | medium |
| Rectum | tissue | 139.3 | medium |
| Adipose tissue | tissue | 131.1 | not detected |
| Small intestine | tissue | 129.2 | medium |
| Urinary bladder | tissue | 121.0 | medium |
| Duodenum | tissue | 113.3 | medium |
| Bone marrow | tissue | 112.3 | low |
| Liver | tissue | 109.3 | low |
| Placenta | tissue | 108.8 | medium |
| Choroid plexus | tissue | 106.0 | |
| Lung | tissue | 105.6 | medium |
| Parathyroid gland | tissue | 105.0 | medium |
| Tonsil | tissue | 97.9 | medium |
| Stomach 1 | tissue | 94.9 | medium |
| Prostate | tissue | 94.1 | medium |
| Testis | tissue | 92.4 | medium |
| Thyroid gland | tissue | 91.6 | medium |
| Smooth muscle | tissue | 86.2 | medium |
| Locus coeruleus | tissue | 83.4 | |
| Appendix | tissue | 81.2 | medium |
| Breast | tissue | 76.7 | medium |
| Salivary gland | tissue | 75.1 | medium |
| Kidney | tissue | 75.0 | medium |
| Fallopian tube | tissue | 74.8 | medium |
| Seminal vesicle | tissue | 74.2 | medium |
| Gallbladder | tissue | 73.8 | medium |
| Ovary | tissue | 67.8 | low |
| Endometrium 1 | tissue | 63.9 | medium |
| Cervix | tissue | 61.1 | medium |
| Spleen | tissue | 60.4 | not detected |
| Postcentral gyrus | tissue | 56.6 | |
| Adrenal gland | tissue | 54.5 | medium |
| Spinal cord | tissue | 54.0 | |
| Pancreas | tissue | 52.9 | medium |
| Hippocampus | tissue | 50.8 | not detected |
| Lymph node | tissue | 49.5 | medium |
| Nucleus accumbens | tissue | 46.7 | |
| Epididymis | tissue | 46.1 | medium |
| Pituitary gland | tissue | 44.6 | |
| Superior colliculi | tissue | 44.5 | |
| Thymus | tissue | 40.3 | |
| Medulla oblongata | tissue | 35.9 | |
| Substantia nigra | tissue | 35.2 | |
| Thalamus | tissue | 34.4 | |
| Pons | tissue | 33.8 | |
| Midbrain | tissue | 30.9 | |
| Hypothalamus | tissue | 28.4 | |
| Periaqueductal gray | tissue | 28.3 | |
| Corpus callosum | tissue | 26.1 | |
| Cerebral cortex | tissue | 25.9 | low |
| Somatosensory cortex | tissue | 25.9 | |
| Septum | tissue | 25.1 | |
| Hippocampal formation | tissue | 24.8 | |
| Occipital cortex | tissue | 23.2 |
Brain sub-regions (HPA Brain Atlas): detected in 390; highest nTPM — Blood vessel (133.6), Nucleus raphe pallidus (89.0), Spinal trigeminal nucleus, interpolar (82.5), Area postrema (82.3), Kolliker-Fuse nucleus (82.0).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPB, JUN, MYC, NFKBIA
Functional genomics
gnomAD constraint: pLI 6.05e-05, LOEUF 1.21, missense Z -0.461 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Literature-anchored findings (GeneRIF, showing 40)
- involved in the proteolysis of amyloid precursor protein, which is thought to be abnormal in patients with Alzheimer’s disease (PMID:11849768)
- Overexpression of calpastatin reduced muscle atrophy during 10 day unloading period. Overexpression completely prevented shift in myofibrillar myosin content from slow to fast isoforms, which normally occurs in muscle unloading. (PMID:12482888)
- insights into how the calpain/calpastatin network is spatially and temporally regulated in cells binding to the extracellular matrix (PMID:14559243)
- calpastatin and calpain-1 represent critical proximal elements in a cascade of pro-apoptotic events leading to Bax, mitochondria, and caspase-3 activation (PMID:14612448)
- Calpastatin amino acid side chains at leucine-11 and isoleucine-18 interact with hydrophobic pockets in calpain, and each of these interactions is indispensable for effective inhibition of calpain. (PMID:14992597)
- Overexpression of calpastatin in transgenic mice is associated with an increase in GLUT4 protein. (PMID:15014085)
- A complete calpain-calpastatin system is expressed in the human oocyte and may play a role in the various calcium-mediated processes occurring during activation of human oocytes. (PMID:15950654)
- CS(L) modulates Ca2+-channel activity through interacting with the calmodulin-binding site on the C-terminal tail of the Cav1.2 channel. (PMID:17950697)
- The activity of calpain in human peripheral blood lymphocytes, was estimated by assessing the levels of limited proteolysis of calpastatin. (PMID:18165173)
- Results suggest a regulation on the calpain-calpastatin expression response to muscle damaging eccentric exercise, but not concentric exercise. (PMID:18340456)
- genetically determined IL-1alpha levels may modulate transcription of calpain and calpastatin (PMID:18498295)
- NMR data of calapastin tripartite binding mode to capain induced by calcium were presented. (PMID:18519038)
- performed a full NMR assignment of hCSD1 to characterize it in its solution state (PMID:18537264)
- c-Myc regulates calpain activity through calpastatin; apoptosis induced by calpain inhibition is dependent on c-Myc, and calpastatin knockdown promotes transformation in c-Myc-negative cells (PMID:18544539)
- Proof of concept that the calpastatin-based reagents may be useful to selectively detect the active conformation of calpain. (PMID:18793761)
- Role of the calpain-calpastatin system in the density-dependent growth arrest. (PMID:18809371)
- recruitment of calpastatin into aggregates allows translocation and activation of protease to the membranes; on the contrary, the presence of large amounts of calpastatin in the cytosol prevents both processes, protecting the cell from proteolysis (PMID:19103264)
- Overexpression of calpain-2 and low expression of calpastatin may involve in the pathological development of stress urinary incontinence. (PMID:19756344)
- A confirmation study reports that a single nucleotide polymorphism and CAST are associated with Parkinson disease. (PMID:20127884)
- Variations in CAST gene is associated with femoral neck Low bone mineral density. (PMID:21424381)
- The data supports the hypothesis that calpastatin may play a role in regulating the initial metastatic dissemination of breast cancer. (PMID:21531560)
- intervertebral discs at early stages of degeneration expressed low levels of calpastatin, and few cells expressed degenerative enzymes. At more advanced stages of degeneration, expression and number of cells immunopositive for calpastatin were higher (PMID:21839844)
- CSL competes with CaM as a partial agonist for the site in the IQ domain in the C-terminal region of the Cav1.2 channel, which may be involved in activation of the channel. (PMID:21937422)
- calpain basal activity becomes measurable at a significant extent in peripheral blood mononuclear cells from cystic fibrosis patients due to a 40-60% decrease in both calpastatin protein and inhibitory activity (PMID:21983488)
- calpastatin-calpain balance varied during Th-1,2, and -17 development; overexpression of a domain of calpastatin suppressed production of IL-6 and IL-17 by Th cells and of IL-6 by fibroblasts; suppression of IL-6 occurred by reducing NF-kappaB signaling (PMID:22046434)
- Neuronal overexpression of calpastatin modulates amyloid precursor protein processing in brains of transgenic beta-amyloid depositing mice. (PMID:22206846)
- Mycoplasma hyorhinis membrane lipoproteins induce calpastatin upregulation in human cells (PMID:22288381)
- Calpastatin overexpression reduces calpain-mediated proteolysis and behavioral impairment after traumatic brain injury. (PMID:22572592)
- The results suggest that calpain-2 and calpastatin expression is important in pancreatic cancers, influencing disease progression (PMID:23140395)
- Linkage analysis and genetic association support involvement of CAST gene in the genetic susceptibility to keratoconus. (PMID:23449483)
- HER2 inhibited calpain-1 activity through upregulating calpastatin, an endogenous calpain inhibitor. (PMID:23707532)
- Calpastatin gene (CAST) is not associated with late onset sporadic Parkinson’s disease in the Han Chinese population. (PMID:23951044)
- Calpastatin binds with Cav1.2 amino acid motifs in a calcium dependent manner. (PMID:24462690)
- Loss of CAST in angiogenic ECs facilitates mu-calpain-induced SOCS3 degradation, which amplifies pathological angiogenesis through interleukin-6/STAT3/VEGF-C axis. (PMID:25648699)
- We describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in calpastatin. (PMID:25683118)
- calpains and calpastatin in patients with idiopathic pulmonary arterial hypertension (PAH) and mice with hypoxic or spontaneous (SM22-5HTT(+) strain) PH, were investigated. (PMID:26974350)
- Kaposi sarcoma-associated herpesvirus reduces CAST (calpastatin) and consequently decreases ATG5 expression in both THP-1 monocytoid cells and primary monocytes. (PMID:27715410)
- single nucleotide polymorphisms in CAST gene confer risk for keratoconus susceptibility in Han Chinese population (PMID:29428799)
- Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain. (PMID:29572388)
- Low CAST expression is associated with ovarian cancer. (PMID:30448882)
Cross-species orthologs
0 orthologs
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1098236) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 19 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal myocardial fiber morphology | 1 |
| abnormal nail morphology | 1 |
| abnormal gait | 1 |
| decreased startle reflex | 1 |
| increased circulating phosphate level | 1 |
| abnormal heart rate | 1 |
| abnormal digit morphology | 1 |
| dilated cardiomyopathy | 1 |
| increased heart weight | 1 |
| increased circulating alanine transaminase level | 1 |
| abnormal heart left ventricle morphology | 1 |
| decreased heart rate | 1 |
| decreased heart ventricle muscle contractility | 1 |
| increased circulating sodium level | 1 |
| increased susceptibility to neuronal excitotoxicity | 1 |
| decreased physiological sensitivity to xenobiotic | 1 |
| abnormal limb position | 1 |
| decreased fasting circulating glucose level | 1 |
| decreased heart left ventricle muscle contractility | 1 |
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 |
|---|---|---|---|
| Chlorocebus aethiops | P49342 | 96.1% | Diamond |
| Sus scrofa | P12675 | 77.2% | Diamond |
| Mus musculus | P51125 | 76.1% | Diamond |
| Rattus norvegicus | P27321 | 75.9% | Diamond |
| Oryctolagus cuniculus | P08855 | 75.6% | Diamond |
| Bos taurus | P20811 | 73.6% | Diamond |
| Ovis aries | Q95208 | 69.6% | 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 |
|---|---|---|
| ELL2 | protein-coding | 22936 |
| MIR583 | ncRNA | 693168 |
| PCSK1 | protein-coding | 5122 |
| ERAP1 | protein-coding | 51752 |
| LINC01554 | ncRNA | 202299 |
| ERAP1-AS1 | ncRNA | 124901033 |
| RHOBTB3 | protein-coding | 22836 |
| GLRX | protein-coding | 2745 |
| ERAP2 | protein-coding | 64167 |
| LNPEP | protein-coding | 4012 |
Protein
Non-coding RNA — no protein product.
Function
Gene-set membership (MSigDB)
This non-coding RNA is a member of 377 curated MSigDB gene sets — regulatory-target and signature collections that include it (it has no protein-based pathway / GO / interaction data).
WENDT_COHESIN_TARGETS_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, HSIAO_HOUSEKEEPING_GENES, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, FOXD3_01, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, CDP_01, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, WANG_RESPONSE_TO_BEXAROTENE_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX2_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX5_DN, ATTCTTT_MIR186, GATA1_04, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_EPITHELIAL_CELL_APOPTOTIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, HNF1_C, TIEN_INTESTINE_PROBIOTICS_24HR_UP, RYTTCCTG_ETS2_B, ELK1_01, P300_01, YY1_01, GATA1_02, CUI_TCF21_TARGETS_2_DN, FOXJ2_02, PIT1_Q6, YIH_RESPONSE_TO_ARSENITE_C2, GTGACTT_MIR224, NAKAMURA_METASTASIS_MODEL_DN, TTTNNANAGCYR_UNKNOWN, CETS1P54_01, TTTGCAC_MIR19A_MIR19B, chr5q15, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, PARENT_MTOR_SIGNALING_UP, TGGAAA_NFAT_Q4_01, YAGI_AML_WITH_11Q23_REARRANGED, GAVIN_FOXP3_TARGETS_CLUSTER_T7, ZHENG_BOUND_BY_FOXP3, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, ZHENG_FOXP3_TARGETS_IN_THYMUS_UP, E2A_Q2, TAKAO_RESPONSE_TO_UVB_RADIATION_DN, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, MGGAAGTG_GABP_B, NUYTTEN_NIPP1_TARGETS_DN, ETS_Q4, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, GATA_C
Disease & clinical
No curated disease, variant, or cancer-driver associations.
Drugs & pharmacology
No curated drug or pharmacology associations for this gene.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcohol dependence, inherited obesity, obesity disorder, obesity due to prohormone convertase I deficiency, peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome