EEIG2
gene geneOn this page
Also known as DKFZp779B126SYM-3B
Summary
EEIG2 (EEIG family member 2, HGNC:27637) is a protein-coding gene on chromosome 1p13.3, encoding EEIG family member 2 (Q5T8I3).
At a glance
- Clinical variants (ClinVar): 45 total
- GTEx eGene: eQTL in 24 tissues, sQTL in 1 (q < 0.05)
- Constraint (gnomAD): pLI 0.90 (loss-of-function intolerant), LOEUF 0.55 (moderately constrained)
- MANE Select transcript:
NM_001010883
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27637 |
| Approved symbol | EEIG2 |
| Name | EEIG family member 2 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp779B126, SYM-3B |
| Ensembl gene | ENSG00000162636 |
| Ensembl biotype | protein_coding |
| Entrez | 284611 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 10 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
MANE Select: ENST00000370035
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 5: 1
ENST00000370035, ENST00000405454, ENST00000483371, ENST00000931504, ENST00000931505, ENST00000931506, ENST00000931507, ENST00000931508, ENST00000931509, ENST00001079057, ENST00001123604, ENST00001142187
RefSeq mRNA: 1 — MANE Select: NM_001010883
NM_001010883
CCDS: CCDS30786
Canonical transcript exons
ENST00000370035 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001067143 | 108616382 | 108616428 |
| ENSE00001067148 | 108628395 | 108628584 |
| ENSE00001067152 | 108624645 | 108624748 |
| ENSE00001207456 | 108628167 | 108628262 |
| ENSE00001364404 | 108612178 | 108612294 |
| ENSE00001365876 | 108606223 | 108606252 |
| ENSE00001366448 | 108600566 | 108600686 |
| ENSE00001958971 | 108635108 | 108639322 |
| ENSE00003551250 | 108628677 | 108628804 |
| ENSE00003596479 | 108629588 | 108629657 |
| ENSE00003850002 | 108560100 | 108560565 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 94.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4709 / max 565.2428, expressed in 1634 samples.
Highest expression (Bgee): dorsal root ganglion, Brodmann (1909) area 46, epithelial cell of pancreas, mucosa of sigmoid colon, colonic mucosa.
Genetic regulation across tissues (GTEx eQTL / sQTL)
EEIG2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 24 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 25 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Brain Cerebellum | eqtl | 7.9e-19 | +1.01 | 1:108635180:G:A |
| Brain Cerebellar Hemisphere | eqtl | 1.7e-13 | +0.77 | 1:108635180:G:A |
| Ovary | eqtl | 4.1e-12 | +1.54 | 1:108527873:C:T |
| Artery Tibial | eqtl | 1.3e-11 | +0.21 | 1:108531271:T:C |
| Testis | eqtl | 2.2e-11 | +0.24 | 1:108530482:C:T |
| Lung | eqtl | 1.1e-09 | +0.41 | 1:108596623:T:A |
| Cells EBV-transformed lymphocytes | eqtl | 8.5e-07 | -0.42 | 1:108538346:T:G |
| Colon Transverse | eqtl | 2.5e-05 | +0.48 | 1:108635180:G:A |
| Nerve Tibial | eqtl | 3.8e-05 | +0.14 | 1:108532569:C:T |
| Brain Cortex | eqtl | 6.8e-05 | +0.29 | 1:108635180:G:A |
| Cells EBV-transformed lymphocytes | sqtl | 7.7e-05 | -1.83 | 1:108635180:G:A |
| Brain Frontal Cortex BA9 | eqtl | 1.1e-04 | +0.29 | 1:108635180:G:A |
| Skin Sun Exposed Lower leg | eqtl | 1.2e-03 | +0.24 | 1:108571155:C:G |
| Spleen | eqtl | 2.3e-03 | +0.42 | 1:108596473:G:A |
| Colon Sigmoid | eqtl | 3.4e-03 | +0.44 | 1:108635180:G:A |
| Adipose Visceral Omentum | eqtl | 9.0e-03 | +0.23 | 1:108666389:A:G |
| Bladder | eqtl | 1.6e-02 | -0.64 | 1:108119597:C:T |
| Pituitary | eqtl | 1.8e-02 | +0.53 | 1:108635180:G:A |
| Skin Not Sun Exposed Suprapubic | eqtl | 2.4e-02 | +0.27 | 1:108635180:G:A |
| Thyroid | eqtl | 3.5e-02 | +0.24 | 1:108635180:G:A |
FANTOM5 promoters
1 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4348 | 12.4709 | 1634 |
Top tissues by expression
showing 100 of 254 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| dorsal root ganglion | UBERON:0000044 | 94.54 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 93.79 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.68 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.34 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.27 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.74 | gold quality |
| parotid gland | UBERON:0001831 | 91.27 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 91.04 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.01 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.90 | silver quality |
| superficial temporal artery | UBERON:0001614 | 90.76 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.31 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 90.14 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.71 | gold quality |
| parietal pleura | UBERON:0002400 | 89.68 | gold quality |
| synovial joint | UBERON:0002217 | 89.55 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 89.47 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 89.18 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.35 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 88.34 | silver quality |
| jejunal mucosa | UBERON:0000399 | 88.20 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.10 | gold quality |
| caput epididymis | UBERON:0004358 | 87.90 | gold quality |
| cauda epididymis | UBERON:0004360 | 87.76 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 87.59 | gold quality |
| entorhinal cortex | UBERON:0002728 | 87.53 | gold quality |
| parietal lobe | UBERON:0001872 | 87.46 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.24 | gold quality |
| rectum | UBERON:0001052 | 86.63 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.90 | gold quality |
| gall bladder | UBERON:0002110 | 85.86 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.56 | gold quality |
| monocyte | CL:0000576 | 85.07 | gold quality |
| skin of hip | UBERON:0001554 | 85.01 | gold quality |
| cortical plate | UBERON:0005343 | 85.01 | gold quality |
| leukocyte | CL:0000738 | 84.87 | gold quality |
| duodenum | UBERON:0002114 | 84.70 | gold quality |
| urethra | UBERON:0000057 | 84.69 | gold quality |
| pericardium | UBERON:0002407 | 84.67 | gold quality |
| corpus epididymis | UBERON:0004359 | 84.62 | gold quality |
| saphenous vein | UBERON:0007318 | 84.45 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 84.37 | gold quality |
| frontal cortex | UBERON:0001870 | 84.35 | gold quality |
| myocardium | UBERON:0002349 | 84.26 | silver quality |
| calcaneal tendon | UBERON:0003701 | 84.21 | gold quality |
| urinary bladder | UBERON:0001255 | 84.19 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.11 | gold quality |
| bone marrow | UBERON:0002371 | 84.01 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 83.83 | gold quality |
| neocortex | UBERON:0001950 | 83.63 | gold quality |
| cerebral cortex | UBERON:0000956 | 83.42 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 83.42 | gold quality |
| thymus | UBERON:0002370 | 83.35 | gold quality |
| mammary duct | UBERON:0001765 | 83.34 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 83.25 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 83.17 | gold quality |
| mammary gland | UBERON:0001911 | 82.95 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 82.95 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.58 | gold quality |
| primary visual cortex | UBERON:0002436 | 82.42 | gold quality |
| heart right ventricle | UBERON:0002080 | 82.41 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.34 | gold quality |
| visceral pleura | UBERON:0002401 | 82.27 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.19 | gold quality |
| lower lobe of lung | UBERON:0008949 | 82.19 | gold quality |
| occipital lobe | UBERON:0002021 | 82.08 | gold quality |
| caecum | UBERON:0001153 | 82.06 | gold quality |
| cerebellum | UBERON:0002037 | 82.00 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 81.96 | gold quality |
| secondary oocyte | CL:0000655 | 81.76 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.43 | gold quality |
| ventricular zone | UBERON:0003053 | 81.23 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.19 | gold quality |
| tonsil | UBERON:0002372 | 80.97 | gold quality |
| tendon | UBERON:0000043 | 80.96 | gold quality |
| temporal lobe | UBERON:0001871 | 80.91 | gold quality |
| vena cava | UBERON:0004087 | 80.83 | gold quality |
| jejunum | UBERON:0002115 | 80.65 | gold quality |
| lymph node | UBERON:0000029 | 80.20 | gold quality |
| large intestine | UBERON:0000059 | 80.20 | gold quality |
| mucosa of stomach | UBERON:0001199 | 80.20 | gold quality |
| oral cavity | UBERON:0000167 | 79.85 | gold quality |
| colon | UBERON:0001155 | 79.79 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 79.77 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 79.71 | gold quality |
| intestine | UBERON:0000160 | 79.63 | gold quality |
| Ammon’s horn | UBERON:0001954 | 79.60 | gold quality |
| adipose tissue | UBERON:0001013 | 79.59 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.57 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 79.56 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 79.54 | gold quality |
| bone marrow cell | CL:0002092 | 79.53 | gold quality |
| brain | UBERON:0000955 | 79.37 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 79.30 | gold quality |
| peritoneum | UBERON:0002358 | 79.13 | gold quality |
| omental fat pad | UBERON:0010414 | 79.13 | gold quality |
| substantia nigra | UBERON:0002038 | 79.06 | gold quality |
| ascending aorta | UBERON:0001496 | 78.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.65 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 79 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Caudate putamen | tissue | 55.0 | |
| Locus coeruleus | tissue | 24.9 | |
| Frontal cortex | tissue | 21.4 | |
| Postcentral gyrus | tissue | 21.0 | |
| Spinal cord | tissue | 20.6 | |
| Bone marrow | tissue | 20.0 | low |
| Prefrontal cortex | tissue | 18.3 | |
| Cerebral cortex | tissue | 18.3 | medium |
| Medulla oblongata | tissue | 18.2 | |
| Hypothalamus | tissue | 17.8 | |
| Substantia nigra | tissue | 17.6 | |
| Periaqueductal gray | tissue | 17.1 | |
| Motor cortex | tissue | 17.0 | |
| Pons | tissue | 16.9 | |
| Midbrain | tissue | 16.9 | |
| Olfactory bulb | tissue | 16.8 | |
| Corpus callosum | tissue | 16.7 | |
| Hippocampus | tissue | 16.2 | medium |
| Retrosplenial and cingulate cortex | tissue | 16.2 | |
| Hippocampal formation | tissue | 16.0 | |
| Entorhinal cortex | tissue | 16.0 | |
| Septum | tissue | 15.6 | |
| Urinary bladder | tissue | 15.3 | medium |
| Insular cortex | tissue | 15.1 | |
| Retrosplenial cortex | tissue | 14.8 | |
| Occipital cortex | tissue | 14.2 | |
| Amygdala | tissue | 13.8 | |
| Rectum | tissue | 13.7 | high |
| Gallbladder | tissue | 13.7 | high |
| Somatosensory cortex | tissue | 13.6 | |
| Temporal cortex | tissue | 13.6 | |
| Thalamus | tissue | 13.5 | |
| Salivary gland | tissue | 12.9 | medium |
| Cerebellum | tissue | 12.8 | medium |
| Ventral forebrain | tissue | 12.8 | |
| Colon | tissue | 12.5 | high |
| Putamen | tissue | 11.1 | |
| Small intestine | tissue | 10.5 | high |
| Duodenum | tissue | 10.4 | high |
| Nucleus accumbens | tissue | 10.2 | |
| Breast | tissue | 10.0 | low |
| Appendix | tissue | 9.9 | medium |
| Basal ganglia | tissue | 9.4 | medium |
| Superior colliculi | tissue | 9.2 | |
| Adipose tissue | tissue | 8.6 | not detected |
| Lymph node | tissue | 8.4 | low |
| Smooth muscle | tissue | 8.2 | not detected |
| Spleen | tissue | 8.2 | not detected |
| Thymus | tissue | 8.1 | |
| Testis | tissue | 8.0 | high |
| Tonsil | tissue | 7.7 | low |
| Lung | tissue | 7.4 | low |
| Seminal vesicle | tissue | 7.3 | low |
| Stomach 1 | tissue | 7.1 | high |
| Parathyroid gland | tissue | 7.1 | medium |
| Cervix | tissue | 6.9 | medium |
| Ovary | tissue | 6.3 | low |
| Heart muscle | tissue | 6.2 | medium |
| Endometrium 1 | tissue | 6.1 | high |
| Choroid plexus | tissue | 5.9 |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Claustrum (27.5), Perirhinal gyrus (27.0), Olfactory area (26.7), Olfactory tubercle (25.6), Mammillary body (25.5).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting EEIG2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 204 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
Functional genomics
gnomAD constraint: pLI 0.901, LOEUF 0.554, missense Z 1.47 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000370035 — one region, missense o/e 0.80.
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam102bb | ENSDARG00000002333 |
| danio_rerio | eeig2a | ENSDARG00000053104 |
| mus_musculus | Eeig2 | ENSMUSG00000040339 |
| rattus_norvegicus | Eeig2 | ENSRNOG00000027540 |
Paralogs (1): EEIG1 (ENSG00000167106)
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 |
|---|---|---|---|
| Xenopus laevis | Q6GNM6 | 76.8% | 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 |
|---|---|---|
| HENMT1 | protein-coding | 113802 |
| NBPF6 | protein-coding | 653149 |
| FNDC7 | protein-coding | 163479 |
| PRPF38B | protein-coding | 55119 |
Protein
Protein identifiers
EEIG family member 2 — Q5T8I3 (reviewed: Q5T8I3)
All UniProt accessions (1): Q5T8I3
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the EEIG family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T8I3-1 | 1 | yes |
| Q5T8I3-2 | 2 |
RefSeq proteins (1): NP_001010883* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019448 | NT-C2 | Domain |
| IPR039931 | EEIG1/2-like | Family |
Pfam: PF10358
UniProt features (9 total): modified residue 6, chain 1, domain 1, splice variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T8I3-F1 | 70.80 | 0.37 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): cytosol; nucleoli
Antibody reliability (HPA): IH uncertain · IF approved
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6)
| Type | Positions |
|---|---|
| Phosphoserine | 228, 276, 288, 320, 321, 350 |
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: 129 (showing top):
CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, INGRAM_SHH_TARGETS_DN, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, GABRIELY_MIR21_TARGETS, LEE_BMP2_TARGETS_UP, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_UP, BOSCO_ALLERGEN_INDUCED_TH2_ASSOCIATED_MODULE, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_UP, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_BALBC_MOUSE_DN, CBX5_TARGET_GENES, SUPT16H_TARGET_GENES, ZNF350_TARGET_GENES, ZNF362_TARGET_GENES, ZNF592_TARGET_GENES
Protein interactions and networks
STRING
showing 15 of 704 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EEIG2 | TSKS | Q9UJT2 | 530 |
| EEIG2 | GAPT | Q8N292 | 514 |
| EEIG2 | MAP3K19 | Q56UN5 | 496 |
| EEIG2 | ANKRD23 | Q86SG2 | 478 |
| EEIG2 | FILIP1L | Q4L180 | 473 |
| EEIG2 | TP53TG5 | Q9Y2B4 | 469 |
| EEIG2 | SLC4A9 | Q96Q91 | 461 |
| EEIG2 | FAM117A | Q9C073 | 460 |
| EEIG2 | MYOZ3 | Q8TDC0 | 455 |
| EEIG2 | SLC30A2 | Q9BRI3 | 455 |
| EEIG2 | PKIA | P04541 | 454 |
| EEIG2 | ANKRD39 | Q53RE8 | 452 |
| EEIG2 | TMEM37 | Q8WXS4 | 448 |
| EEIG2 | SLC7A14 | Q8TBB6 | 435 |
| EEIG2 | FNDC7 | Q5VTL7 | 429 |
Disease & clinical
Genetic variants
Variant evidence for EEIG2: 45 ClinVar records (0 pathogenic / likely pathogenic).
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 0 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 32 predictions of 1,017):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:108560566–108560567 | donor_loss | 1.0000 | 4 |
| 1:108600684 | donor_gain | 1.0000 | |
| 1:108612175 | acceptor_gain | 1.0000 | |
| 1:108612176–108612177 | acceptor_loss | 1.0000 | 6 |
| 1:108612295–108612296 | donor_loss | 1.0000 | 5 |
| 1:108628586 | donor_loss | 1.0000 | 2 |
| 1:108628674 | acceptor_gain | 1.0000 | |
| 1:108560566 | donor_loss | 0.9900 | |
| 1:108600687–108600688 | donor_loss | 0.9900 | 6 |
| 1:108606253–108606254 | donor_loss | 0.9900 | 5 |
AlphaMissense
868 missense substitutions predicted likely pathogenic (of 2,356 scored), across 201 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 |
|---|---|---|---|
| D130 | 8 | 0.993 | 0.998 |
| N131 | 8 | 0.986 | 0.999 |
| F9 | 8 | 0.976 | 0.999 |
| D146 | 8 | 0.976 | 0.995 |
| F149 | 8 | 0.961 | 0.998 |
| F62 | 8 | 0.936 | 0.991 |
| F316 | 8 | 0.854 | 0.968 |
| W56 | 7 | 0.996 | 1.000 |
| F29 | 7 | 0.995 | 0.999 |
| F99 | 7 | 0.993 | 0.999 |
| R85 | 7 | 0.992 | 1.000 |
| E87 | 7 | 0.977 | 0.996 |
| R46 | 7 | 0.975 | 0.998 |
| F7 | 7 | 0.972 | 0.993 |
| R300 | 7 | 0.972 | 0.997 |
| F330 | 7 | 0.967 | 0.989 |
| K96 | 7 | 0.955 | 0.999 |
| F107 | 7 | 0.953 | 0.987 |
| C148 | 7 | 0.941 | 0.992 |
| F40 | 7 | 0.901 | 0.979 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 0.000453 |
| Head and Neck Squamous Cell Carcinoma (TCGA) | favorable | 0.000964 |
Disease associations
OMIM: gene `` | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, affects expression, affects cotreatment | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| hydroxyhydroquinone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| jinfukang | decreases expression | 1 |
| gardiquimod | decreases expression, decreases reaction | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | increases expression | 1 |
| Arsenic | increases abundance, affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Copper | affects binding, 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.