CREG2
gene geneOn this page
Summary
CREG2 (cellular repressor of E1A stimulated genes 2, HGNC:14272) is a protein-coding gene on chromosome 2q11.2, encoding Protein CREG2 (Q8IUH2).
Predicted to be located in Golgi apparatus; endoplasmic reticulum; and extracellular region. Predicted to be active in obsolete extracellular space.
Source: NCBI Gene 200407 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 54 total
- GTEx eGene: eQTL in 11 tissues, sQTL in 2 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.51 (unconstrained)
- MANE Select transcript:
NM_153836 - Notable: 54 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14272 |
| Approved symbol | CREG2 |
| Name | cellular repressor of E1A stimulated genes 2 |
| Location | 2q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000175874 |
| Ensembl biotype | protein_coding |
| OMIM | 618540 |
| Entrez | 200407 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
MANE Select: ENST00000324768
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 2
ENST00000324768, ENST00000486966, ENST00000495455, ENST00001049759, ENST00001115850, ENST00001115851, ENST00001138956
RefSeq mRNA: 1 — MANE Select: NM_153836
NM_153836
CCDS: CCDS2052
Canonical transcript exons
ENST00000324768 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001246894 | 101355253 | 101355366 |
| ENSE00001246907 | 101345550 | 101351070 |
| ENSE00001930395 | 101387017 | 101387503 |
| ENSE00003692450 | 101383533 | 101383702 |
Expression profiles
Bgee: expression breadth ubiquitous, 154 present calls, max score 98.91.
FANTOM5 (CAGE): breadth broad, TPM avg 3.8468 / max 258.1187, expressed in 552 samples.
Highest expression (Bgee): Brodmann (1909) area 46, endothelial cell, Brodmann (1909) area 23, superior frontal gyrus, postcentral gyrus.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CREG2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 11 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
13 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Esophagus Mucosa | eqtl | 4.6e-54 | -0.65 | 2:101386663:C:T |
| Brain Anterior cingulate cortex BA24 | eqtl | 5.5e-09 | +0.17 | 2:101315616:C:T |
| Skin Sun Exposed Lower leg | eqtl | 1.3e-07 | -0.25 | 2:101381078:C:T |
| Brain Cortex | eqtl | 2.1e-07 | -0.12 | 2:101376012:A:G |
| Brain Nucleus accumbens basal ganglia | eqtl | 4.5e-07 | -0.18 | 2:101348558:A:G |
| Brain Frontal Cortex BA9 | eqtl | 1.2e-05 | +0.12 | 2:101380691:C:T |
| Brain Cortex | sqtl | 6.2e-05 | -0.57 | 2:101381276:G:A |
| Whole Blood | eqtl | 9.5e-04 | -0.23 | 2:101355752:G:C |
| Pituitary | eqtl | 1.9e-03 | -0.25 | 2:101359450:C:T |
| Brain Frontal Cortex BA9 | sqtl | 4.0e-03 | +0.48 | 2:101349576:C:A |
| Brain Hippocampus | eqtl | 5.6e-03 | +0.16 | 2:101314385:C:G |
| Brain Caudate basal ganglia | eqtl | 1.2e-02 | +0.19 | 2:101389211:C:T |
| Brain Amygdala | eqtl | 2.9e-02 | -0.16 | 2:101376643:T:A |
FANTOM5 promoters
4 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29945 | 3.3976 | 528 |
| 29944 | 0.2302 | 76 |
| 29943 | 0.1173 | 46 |
| 29946 | 0.1017 | 42 |
Top tissues by expression
showing 100 of 237 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 46 | UBERON:0006483 | 98.91 | gold quality |
| endothelial cell | CL:0000115 | 98.29 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.09 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.96 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.62 | gold quality |
| parietal lobe | UBERON:0001872 | 97.53 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.32 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.50 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.77 | gold quality |
| occipital lobe | UBERON:0002021 | 95.44 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.22 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.78 | gold quality |
| frontal cortex | UBERON:0001870 | 93.56 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.15 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.96 | gold quality |
| neocortex | UBERON:0001950 | 91.81 | gold quality |
| Ammon’s horn | UBERON:0001954 | 91.47 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.07 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.63 | gold quality |
| temporal lobe | UBERON:0001871 | 90.10 | gold quality |
| pons | UBERON:0000988 | 88.12 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.78 | gold quality |
| amygdala | UBERON:0001876 | 85.78 | gold quality |
| forebrain | UBERON:0001890 | 83.10 | gold quality |
| nucleus accumbens | UBERON:0001882 | 78.72 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 78.15 | gold quality |
| hypothalamus | UBERON:0001898 | 77.98 | gold quality |
| brain | UBERON:0000955 | 77.67 | gold quality |
| corpus callosum | UBERON:0002336 | 73.36 | gold quality |
| medulla oblongata | UBERON:0001896 | 72.85 | gold quality |
| putamen | UBERON:0001874 | 72.73 | gold quality |
| midbrain | UBERON:0001891 | 72.06 | gold quality |
| substantia nigra | UBERON:0002038 | 71.84 | gold quality |
| caudate nucleus | UBERON:0001873 | 71.30 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 69.56 | gold quality |
| ventral tegmental area | UBERON:0002691 | 69.31 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 67.93 | gold quality |
| adult organism | UBERON:0007023 | 66.93 | gold quality |
| spinal cord | UBERON:0002240 | 64.63 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 64.62 | gold quality |
| vagina | UBERON:0000996 | 64.16 | gold quality |
| medial globus pallidus | UBERON:0002477 | 63.79 | gold quality |
| globus pallidus | UBERON:0001875 | 63.55 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 63.04 | gold quality |
| cortical plate | UBERON:0005343 | 62.20 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 61.87 | gold quality |
| oviduct epithelium | UBERON:0004804 | 61.27 | silver quality |
| lateral globus pallidus | UBERON:0002476 | 60.73 | gold quality |
| islet of Langerhans | UBERON:0000006 | 60.31 | gold quality |
| pancreatic ductal cell | CL:0002079 | 60.27 | silver quality |
| dorsal root ganglion | UBERON:0000044 | 60.15 | silver quality |
| inferior vagus X ganglion | UBERON:0005363 | 59.14 | gold quality |
| esophagus mucosa | UBERON:0002469 | 58.94 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 58.16 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 56.51 | gold quality |
| lower lobe of lung | UBERON:0008949 | 56.35 | silver quality |
| ganglionic eminence | UBERON:0004023 | 55.09 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 54.68 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| ileal mucosa | UBERON:0000331 | 53.03 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 52.83 | gold quality |
| ectocervix | UBERON:0012249 | 51.81 | gold quality |
| pituitary gland | UBERON:0000007 | 51.49 | gold quality |
| colonic epithelium | UBERON:0000397 | 51.31 | silver quality |
| adenohypophysis | UBERON:0002196 | 50.42 | gold quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| fallopian tube | UBERON:0003889 | 50.04 | gold quality |
| granulocyte | CL:0000094 | 50.01 | silver quality |
| cardiac atrium | UBERON:0002081 | 49.67 | gold quality |
| right atrium auricular region | UBERON:0006631 | 49.50 | gold quality |
| stromal cell of endometrium | CL:0002255 | 49.35 | silver quality |
| urinary bladder | UBERON:0001255 | 49.25 | gold quality |
| esophagus | UBERON:0001043 | 48.85 | gold quality |
| cerebellar vermis | UBERON:0004720 | 48.63 | gold quality |
| pancreas | UBERON:0001264 | 48.23 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 48.22 | gold quality |
| anatomical system | UBERON:0000467 | 48.12 | gold quality |
| blood | UBERON:0000178 | 48.05 | gold quality |
| material anatomical entity | UBERON:0000465 | 48.05 | gold quality |
| multicellular organism | UBERON:0000468 | 48.05 | gold quality |
| gall bladder | UBERON:0002110 | 47.99 | gold quality |
| quadriceps femoris | UBERON:0001377 | 47.32 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| placenta | UBERON:0001987 | 46.46 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 45.81 | gold quality |
| heart | UBERON:0000948 | 45.70 | gold quality |
| vastus lateralis | UBERON:0001379 | 45.40 | gold quality |
| vermiform appendix | UBERON:0001154 | 45.35 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 44.95 | gold quality |
| uterine cervix | UBERON:0000002 | 44.90 | gold quality |
| female reproductive system | UBERON:0000474 | 44.85 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 44.39 | silver quality |
| tonsil | UBERON:0002372 | 44.39 | silver quality |
| caecum | UBERON:0001153 | 44.06 | silver quality |
| ventricular zone | UBERON:0003053 | 44.05 | silver quality |
| heart left ventricle | UBERON:0002084 | 43.95 | gold quality |
| cardiac ventricle | UBERON:0002082 | 43.81 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 38.72 |
| E-ANND-3 | yes | 5.37 |
| E-GEOD-36552 | no | 6.60 |
HPA expression
RNA tissue specificity: Tissue enriched
45 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Postcentral gyrus | tissue | 87.1 | |
| Hippocampus | tissue | 70.3 | high |
| Frontal cortex | tissue | 43.9 | |
| Caudate putamen | tissue | 19.4 | |
| Hippocampal formation | tissue | 16.9 | |
| Prefrontal cortex | tissue | 15.7 | |
| Cerebral cortex | tissue | 15.7 | high |
| Motor cortex | tissue | 15.4 | |
| Temporal cortex | tissue | 14.0 | |
| Entorhinal cortex | tissue | 13.7 | |
| Retrosplenial and cingulate cortex | tissue | 13.6 | |
| Nucleus accumbens | tissue | 13.4 | |
| Amygdala | tissue | 13.0 | |
| Somatosensory cortex | tissue | 12.9 | |
| Periaqueductal gray | tissue | 12.7 | |
| Insular cortex | tissue | 12.6 | |
| Pons | tissue | 12.4 | |
| Hypothalamus | tissue | 12.3 | |
| Locus coeruleus | tissue | 12.3 | |
| Retrosplenial cortex | tissue | 11.7 | |
| Occipital cortex | tissue | 10.5 | |
| Septum | tissue | 10.0 | |
| Basal ganglia | tissue | 9.5 | not detected |
| Putamen | tissue | 8.8 | |
| Ventral forebrain | tissue | 8.6 | |
| Substantia nigra | tissue | 8.5 | |
| Thalamus | tissue | 7.8 | |
| Cerebellum | tissue | 7.4 | high |
| Medulla oblongata | tissue | 6.5 | |
| Midbrain | tissue | 6.0 | |
| Superior colliculi | tissue | 4.7 | |
| Spinal cord | tissue | 3.7 | |
| Choroid plexus | tissue | 3.2 | |
| Olfactory bulb | tissue | 1.6 | |
| Corpus callosum | tissue | 1.3 | |
| Retina | tissue | 0.7 | |
| Vagina | tissue | 0.7 | not detected |
| Fallopian tube | tissue | 0.3 | not detected |
| Parathyroid gland | tissue | 0.2 | not detected |
| Testis | tissue | 0.1 | not detected |
| Heart muscle | tissue | 0.1 | not detected |
| Urinary bladder | tissue | 0.1 | not detected |
| Small intestine | tissue | 0.1 | not detected |
| Duodenum | tissue | 0.1 | not detected |
| Adrenal gland | tissue | 0.1 | not detected |
Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Hippocampus, CA1 (88.5), Dentate gyrus (83.1), Hippocampus, CA3 (82.0), Precentral gyrus, middle (73.8), Perirhinal gyrus (72.7).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting CREG2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 145 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
Functional genomics
gnomAD constraint: pLI 3.38e-08, LOEUF 1.51, missense Z -1.03 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000324768 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 2:101,350,926–101,383,695 | 174 / 178.2 | 0.98 | no |
| 2:101,383,696–101,387,095 | 15 / 37.2 | 0.40 | no |
| 2:101,387,096–101,387,457 | 177 / 183.3 | 0.97 | no |
Literature-anchored findings (GeneRIF, showing 1)
- CREG2 are putative secreted glycoproteins and may be novel neuronal extracellular molecules. (PMID:12408961)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | creg2 | ENSDARG00000000666 |
| mus_musculus | Creg2 | ENSMUSG00000050967 |
| rattus_norvegicus | Creg2 | ENSRNOG00000013991 |
| drosophila_melanogaster | CREG | FBGN0025456 |
Paralogs (1): CREG1 (ENSG00000143162)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1928333) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased grip strength | 1 |
| decreased fasting circulating glucose level | 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 |
|---|---|---|---|
| Gallus gallus | Q5ZJ73 | 63.7% | 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 |
|---|---|---|
| RNF149 | protein-coding | 284996 |
| SNORD89 | snoRNA | 692205 |
| RFX8 | protein-coding | 731220 |
| MIR5696 | ncRNA | 100847007 |
| LINC01870 | ncRNA | 107985925 |
| CNOT11 | protein-coding | 55571 |
Protein
Protein identifiers
Protein CREG2 — Q8IUH2 (reviewed: Q8IUH2)
Alternative names: Cellular repressor of E1A-stimulated genes 2
All UniProt accessions (1): Q8IUH2
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Secreted.
Tissue specificity. Brain specific mainly in the limbic system and faintly in the spinal cord but not in cerebellum.
Post-translational modifications. It is not sure whether N-glycosylation is on Asn-165 and/or Asn-166.
Similarity. Belongs to the CREG family.
RefSeq proteins (1): NP_722578* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012349 | Split_barrel_FMN-bd | Homologous_superfamily |
| IPR014631 | CREG | Family |
| IPR055343 | CREG_beta-barrel | Domain |
Pfam: PF13883
UniProt features (6 total): glycosylation site 2, signal peptide 1, chain 1, sequence variant 1, mutagenesis site 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IUH2-F1 | 72.48 | 0.46 |
Human Protein Atlas
Protein class: Predicted secreted proteins
Protein evidence: Evidence at protein level
Antibody reliability (HPA): IH enhanced
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 165, 166 |
Mutagenesis-validated functional residues (1)
| Position | Phenotype |
|---|---|
| 165–166 | abolishes n-glycosylation. |
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: 57 (showing top):
GTCAACC_MIR3805P, chr2q11, MEISSNER_NPC_HCP_WITH_H3K4ME2, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_UP, GSE13547_WT_VS_ZFX_KO_BCELL_UP, MIR664B_3P, MIR4753_3P, MIR513A_3P_MIR513C_3P, MIR627_3P, MIR3606_3P, MIR6844, MIR543, MIR7152_5P, MIR4703_5P, MIR130B_5P
GO Cellular Component (5): endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), extracellular region (GO:0005576), cytoplasm (GO:0005737), endomembrane system (GO:0012505)
GO top-level categories
7 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| intracellular anatomical structure | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
showing 15 of 392 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CREG2 | ZNF572 | Q7Z3I7 | 537 |
| CREG2 | SREK1IP1 | Q8N9Q2 | 505 |
| CREG2 | A3GALT2 | U3KPV4 | 500 |
| CREG2 | STK32A | Q8WU08 | 475 |
| CREG2 | PCP2 | Q8IVA1 | 470 |
| CREG2 | SREK1 | Q8WXA9 | 469 |
| CREG2 | SFXN3 | Q9BWM7 | 464 |
| CREG2 | LRRN4 | Q8WUT4 | 461 |
| CREG2 | PNMA6F | A0A0J9YX94 | 439 |
| CREG2 | PRDM12 | Q9H4Q4 | 438 |
| CREG2 | IMPG1 | Q17R60 | 437 |
| CREG2 | CLASP2 | O75122 | 425 |
| CREG2 | SH3TC2 | Q8TF17 | 401 |
| CREG2 | ZNF708 | P17019 | 383 |
| CREG2 | KCNMB1 | P78475 | 370 |
IntAct
Human interaction partners of CREG2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
1 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| GLDC | physical association | 0.400 | 1 |
BioGRID (4 interactions; top human partners by supporting records): C16orf72 (Positive Genetic), GLDC (Affinity Capture-MS), TRIM25 (Affinity Capture-RNA), USP53 (Affinity Capture-MS)
Disease & clinical
Genetic variants
Variant evidence for CREG2: 54 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 1 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 378):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 2:101355367–101355368 | acceptor_loss | 1.0000 | 5 |
| 2:101355371–101355373 | acceptor_gain | 1.0000 | 2 |
| 2:101383544 | donor_gain | 1.0000 | |
| 2:101387015–101387016 | donor_loss | 1.0000 | 4 |
| 2:101355251–101355252 | donor_loss | 0.9900 | 5 |
| 2:101355367 | acceptor_loss | 0.9900 | |
| 2:101387015 | donor_loss | 0.9900 | |
| 2:101383495 | donor_gain | 0.9800 | |
| 2:101350910 | donor_gain | 0.9600 | |
| 2:101383703–101383704 | acceptor_loss | 0.9600 | 5 |
AlphaMissense
326 missense substitutions predicted likely pathogenic (of 1,885 scored), across 101 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 |
|---|---|---|---|
| D161 | 8 | 0.838 | 0.917 |
| F240 | 7 | 0.900 | 0.961 |
| F104 | 7 | 0.849 | 0.958 |
| W40 | 7 | 0.843 | 0.959 |
| C203 | 7 | 0.839 | 0.899 |
| C215 | 7 | 0.831 | 0.888 |
| G169 | 6 | 0.876 | 0.963 |
| R128 | 6 | 0.838 | 0.951 |
| M260 | 6 | 0.832 | 0.947 |
| G222 | 6 | 0.824 | 0.948 |
| W255 | 6 | 0.804 | 0.917 |
| W70 | 6 | 0.787 | 0.918 |
| M224 | 6 | 0.727 | 0.893 |
| Y282 | 5 | 0.959 | 0.975 |
| S167 | 5 | 0.918 | 0.969 |
| S160 | 5 | 0.908 | 0.980 |
| F172 | 5 | 0.885 | 0.916 |
| F257 | 5 | 0.864 | 0.880 |
| G162 | 5 | 0.855 | 0.943 |
| F234 | 5 | 0.855 | 0.918 |
HPA cancer prognostics
RNA cancer specificity: Cancer enhanced (Glioblastoma Multiforme)
Disease associations
OMIM: gene MIM:618540 | disease phenotypes:
GWAS associations
2 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST003095_4 | Adiponectin levels (BMI-adjusted) | 2e-6 |
| GCST003096_3 | Adiponectin levels | 3e-6 |
EFO canonical traits (from GWAS)
2 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0007737 | BMI-adjusted adiponectin measurement |
| EFO:0004502 | adiponectin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sotorasib | affects cotreatment, decreases expression | 1 |
| urushiol | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| 2-tert-butylhydroquinone | affects response to substance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| pentanal | increases expression | 1 |
| avobenzone | increases expression | 1 |
| dinophysistoxin 1 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | decreases expression, affects cotreatment | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | increases expression | 1 |
| Copper | decreases expression, affects binding | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | decreases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | affects expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.