Send feedback

EEIG2

gene
On 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

FieldValue
HGNC IDHGNC:27637
Approved symbolEEIG2
NameEEIG family member 2
Location1p13.3
Locus typegene with protein product
StatusApproved
AliasesDKFZp779B126, SYM-3B
Ensembl geneENSG00000162636
Ensembl biotypeprotein_coding
Entrez284611

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

ExonStartEnd
ENSE00001067143108616382108616428
ENSE00001067148108628395108628584
ENSE00001067152108624645108624748
ENSE00001207456108628167108628262
ENSE00001364404108612178108612294
ENSE00001365876108606223108606252
ENSE00001366448108600566108600686
ENSE00001958971108635108108639322
ENSE00003551250108628677108628804
ENSE00003596479108629588108629657
ENSE00003850002108560100108560565

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:

TissueQTLq-valueSlopeLead variant
Brain Cerebellumeqtl7.9e-19+1.011:108635180:G:A
Brain Cerebellar Hemisphereeqtl1.7e-13+0.771:108635180:G:A
Ovaryeqtl4.1e-12+1.541:108527873:C:T
Artery Tibialeqtl1.3e-11+0.211:108531271:T:C
Testiseqtl2.2e-11+0.241:108530482:C:T
Lungeqtl1.1e-09+0.411:108596623:T:A
Cells EBV-transformed lymphocyteseqtl8.5e-07-0.421:108538346:T:G
Colon Transverseeqtl2.5e-05+0.481:108635180:G:A
Nerve Tibialeqtl3.8e-05+0.141:108532569:C:T
Brain Cortexeqtl6.8e-05+0.291:108635180:G:A
Cells EBV-transformed lymphocytessqtl7.7e-05-1.831:108635180:G:A
Brain Frontal Cortex BA9eqtl1.1e-04+0.291:108635180:G:A
Skin Sun Exposed Lower legeqtl1.2e-03+0.241:108571155:C:G
Spleeneqtl2.3e-03+0.421:108596473:G:A
Colon Sigmoideqtl3.4e-03+0.441:108635180:G:A
Adipose Visceral Omentumeqtl9.0e-03+0.231:108666389:A:G
Bladdereqtl1.6e-02-0.641:108119597:C:T
Pituitaryeqtl1.8e-02+0.531:108635180:G:A
Skin Not Sun Exposed Suprapubiceqtl2.4e-02+0.271:108635180:G:A
Thyroideqtl3.5e-02+0.241:108635180:G:A

FANTOM5 promoters

1 alternative TSS:

Promoter IDTPM avgSamples expressed
434812.47091634

Top tissues by expression

showing 100 of 254 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
dorsal root ganglionUBERON:000004494.54gold quality
Brodmann (1909) area 46UBERON:000648393.79gold quality
epithelial cell of pancreasCL:000008393.68gold quality
mucosa of sigmoid colonUBERON:000499393.34gold quality
colonic mucosaUBERON:000031792.27gold quality
cerebellar vermisUBERON:000472091.74gold quality
parotid glandUBERON:000183191.27gold quality
trigeminal ganglionUBERON:000167591.04gold quality
ileal mucosaUBERON:000033191.01gold quality
cardiac muscle of right atriumUBERON:000337990.90silver quality
superficial temporal arteryUBERON:000161490.76gold quality
seminal vesicleUBERON:000099890.31gold quality
substantia nigra pars compactaUBERON:000196590.14gold quality
palpebral conjunctivaUBERON:000181289.71gold quality
parietal pleuraUBERON:000240089.68gold quality
synovial jointUBERON:000221789.55gold quality
substantia nigra pars reticulataUBERON:000196689.47gold quality
layer of synovial tissueUBERON:000761689.18gold quality
superior frontal gyrusUBERON:000266188.95gold quality
middle temporal gyrusUBERON:000277188.35gold quality
left ventricle myocardiumUBERON:000656688.34silver quality
jejunal mucosaUBERON:000039988.20gold quality
postcentral gyrusUBERON:000258188.10gold quality
caput epididymisUBERON:000435887.90gold quality
cauda epididymisUBERON:000436087.76gold quality
lateral nuclear group of thalamusUBERON:000273687.59gold quality
entorhinal cortexUBERON:000272887.53gold quality
parietal lobeUBERON:000187287.46gold quality
Brodmann (1909) area 23UBERON:001355487.24gold quality
rectumUBERON:000105286.63gold quality
prefrontal cortexUBERON:000045185.90gold quality
gall bladderUBERON:000211085.86gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.56gold quality
monocyteCL:000057685.07gold quality
skin of hipUBERON:000155485.01gold quality
cortical plateUBERON:000534385.01gold quality
leukocyteCL:000073884.87gold quality
duodenumUBERON:000211484.70gold quality
urethraUBERON:000005784.69gold quality
pericardiumUBERON:000240784.67gold quality
corpus epididymisUBERON:000435984.62gold quality
saphenous veinUBERON:000731884.45gold quality
dorsolateral prefrontal cortexUBERON:000983484.37gold quality
frontal cortexUBERON:000187084.35gold quality
myocardiumUBERON:000234984.26silver quality
calcaneal tendonUBERON:000370184.21gold quality
urinary bladderUBERON:000125584.19gold quality
colonic epitheliumUBERON:000039784.11gold quality
bone marrowUBERON:000237184.01gold quality
germinal epithelium of ovaryUBERON:000130483.83gold quality
neocortexUBERON:000195083.63gold quality
cerebral cortexUBERON:000095683.42gold quality
epithelium of mammary glandUBERON:000324483.42gold quality
thymusUBERON:000237083.35gold quality
mammary ductUBERON:000176583.34gold quality
superior vestibular nucleusUBERON:000722783.25gold quality
thoracic mammary glandUBERON:000520083.17gold quality
mammary glandUBERON:000191182.95gold quality
Brodmann (1909) area 9UBERON:001354082.95gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.58gold quality
primary visual cortexUBERON:000243682.42gold quality
heart right ventricleUBERON:000208082.41gold quality
smooth muscle tissueUBERON:000113582.34gold quality
visceral pleuraUBERON:000240182.27gold quality
vermiform appendixUBERON:000115482.19gold quality
lower lobe of lungUBERON:000894982.19gold quality
occipital lobeUBERON:000202182.08gold quality
caecumUBERON:000115382.06gold quality
cerebellumUBERON:000203782.00gold quality
nasal cavity mucosaUBERON:000182681.96gold quality
secondary oocyteCL:000065581.76gold quality
cerebellar cortexUBERON:000212981.59gold quality
cerebellar hemisphereUBERON:000224581.43gold quality
ventricular zoneUBERON:000305381.23gold quality
anterior cingulate cortexUBERON:000983581.19gold quality
tonsilUBERON:000237280.97gold quality
tendonUBERON:000004380.96gold quality
temporal lobeUBERON:000187180.91gold quality
vena cavaUBERON:000408780.83gold quality
jejunumUBERON:000211580.65gold quality
lymph nodeUBERON:000002980.20gold quality
large intestineUBERON:000005980.20gold quality
mucosa of stomachUBERON:000119980.20gold quality
oral cavityUBERON:000016779.85gold quality
colonUBERON:000115579.79gold quality
descending thoracic aortaUBERON:000234579.77gold quality
saliva-secreting glandUBERON:000104479.71gold quality
intestineUBERON:000016079.63gold quality
Ammon’s hornUBERON:000195479.60gold quality
adipose tissueUBERON:000101379.59gold quality
stromal cell of endometriumCL:000225579.57gold quality
right hemisphere of cerebellumUBERON:001489079.56gold quality
dorsal plus ventral thalamusUBERON:000189779.54gold quality
bone marrow cellCL:000209279.53gold quality
brainUBERON:000095579.37gold quality
adipose tissue of abdominal regionUBERON:000780879.30gold quality
peritoneumUBERON:000235879.13gold quality
omental fat padUBERON:001041479.13gold quality
substantia nigraUBERON:000203879.06gold quality
ascending aortaUBERON:000149678.98gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes7.65

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Caudate putamentissue55.0
Locus coeruleustissue24.9
Frontal cortextissue21.4
Postcentral gyrustissue21.0
Spinal cordtissue20.6
Bone marrowtissue20.0low
Prefrontal cortextissue18.3
Cerebral cortextissue18.3medium
Medulla oblongatatissue18.2
Hypothalamustissue17.8
Substantia nigratissue17.6
Periaqueductal graytissue17.1
Motor cortextissue17.0
Ponstissue16.9
Midbraintissue16.9
Olfactory bulbtissue16.8
Corpus callosumtissue16.7
Hippocampustissue16.2medium
Retrosplenial and cingulate cortextissue16.2
Hippocampal formationtissue16.0
Entorhinal cortextissue16.0
Septumtissue15.6
Urinary bladdertissue15.3medium
Insular cortextissue15.1
Retrosplenial cortextissue14.8
Occipital cortextissue14.2
Amygdalatissue13.8
Rectumtissue13.7high
Gallbladdertissue13.7high
Somatosensory cortextissue13.6
Temporal cortextissue13.6
Thalamustissue13.5
Salivary glandtissue12.9medium
Cerebellumtissue12.8medium
Ventral forebraintissue12.8
Colontissue12.5high
Putamentissue11.1
Small intestinetissue10.5high
Duodenumtissue10.4high
Nucleus accumbenstissue10.2
Breasttissue10.0low
Appendixtissue9.9medium
Basal gangliatissue9.4medium
Superior colliculitissue9.2
Adipose tissuetissue8.6not detected
Lymph nodetissue8.4low
Smooth muscletissue8.2not detected
Spleentissue8.2not detected
Thymustissue8.1
Testistissue8.0high
Tonsiltissue7.7low
Lungtissue7.4low
Seminal vesicletissue7.3low
Stomach 1tissue7.1high
Parathyroid glandtissue7.1medium
Cervixtissue6.9medium
Ovarytissue6.3low
Heart muscletissue6.2medium
Endometrium 1tissue6.1high
Choroid plexustissue5.9

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:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-3163100.0077.238605
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-4262100.0073.263931
HSA-MIR-196A-5P100.0068.16684
HSA-MIR-196B-5P100.0068.16681
HSA-MIR-5692A100.0074.406850
HSA-MIR-656-3P100.0072.152788
HSA-MIR-366299.9973.825684
HSA-MIR-150-5P99.9966.691976
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-1213699.9872.815713
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-480399.9871.993117
HSA-MIR-548N99.9871.944170
HSA-LET-7F-2-3P99.9870.982588
HSA-MIR-1185-1-3P99.9871.042593
HSA-MIR-1185-2-3P99.9871.042593
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-56899.9869.862084

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

OrganismSymbolGene ID
danio_reriofam102bbENSDARG00000002333
danio_rerioeeig2aENSDARG00000053104
mus_musculusEeig2ENSMUSG00000040339
rattus_norvegicusEeig2ENSRNOG00000027540

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.

OrganismUniProtIdentityMethod
Xenopus laevisQ6GNM676.8%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).

SymbolTypeEntrez
HENMT1protein-coding113802
NBPF6protein-coding653149
FNDC7protein-coding163479
PRPF38Bprotein-coding55119

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 IDNamesCanonical?
Q5T8I3-11yes
Q5T8I3-22

RefSeq proteins (1): NP_001010883* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR019448NT-C2Domain
IPR039931EEIG1/2-likeFamily

Pfam: PF10358

UniProt features (9 total): modified residue 6, chain 1, domain 1, splice variant 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5T8I3-F170.800.37

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)

TypePositions
Phosphoserine228, 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 AProtein BPartner UniProtScore
EEIG2TSKSQ9UJT2530
EEIG2GAPTQ8N292514
EEIG2MAP3K19Q56UN5496
EEIG2ANKRD23Q86SG2478
EEIG2FILIP1LQ4L180473
EEIG2TP53TG5Q9Y2B4469
EEIG2SLC4A9Q96Q91461
EEIG2FAM117AQ9C073460
EEIG2MYOZ3Q8TDC0455
EEIG2SLC30A2Q9BRI3455
EEIG2PKIAP04541454
EEIG2ANKRD39Q53RE8452
EEIG2TMEM37Q8WXS4448
EEIG2SLC7A14Q8TBB6435
EEIG2FNDC7Q5VTL7429

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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance34
Likely benign0
Benign0

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)EffectΔscoreSites
1:108560566–108560567donor_loss1.00004
1:108600684donor_gain1.0000
1:108612175acceptor_gain1.0000
1:108612176–108612177acceptor_loss1.00006
1:108612295–108612296donor_loss1.00005
1:108628586donor_loss1.00002
1:108628674acceptor_gain1.0000
1:108560566donor_loss0.9900
1:108600687–108600688donor_loss0.99006
1:108606253–108606254donor_loss0.99005

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:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
D13080.9930.998
N13180.9860.999
F980.9760.999
D14680.9760.995
F14980.9610.998
F6280.9360.991
F31680.8540.968
W5670.9961.000
F2970.9950.999
F9970.9930.999
R8570.9921.000
E8770.9770.996
R4670.9750.998
F770.9720.993
R30070.9720.997
F33070.9670.989
K9670.9550.999
F10770.9530.987
C14870.9410.992
F4070.9010.979

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

CancerPrognosticp-value
Liver Hepatocellular Carcinoma (TCGA)unfavorable0.000453
Head and Neck Squamous Cell Carcinoma (TCGA)favorable0.000964

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.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases abundance, affects expression, affects cotreatment2
Smokedecreases expression, increases abundance, increases expression2
Valproic Acidaffects expression, increases expression2
Cyclosporinedecreases expression2
aristolochic acid Idecreases expression1
GSK-J4increases expression1
methylmercuric chlorideincreases expression1
bisphenol Adecreases methylation1
hydroxyhydroquinonedecreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
potassium chromate(VI)affects cotreatment, decreases expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
perfluorooctane sulfonic aciddecreases expression1
2-palmitoylglycerolincreases expression1
ICG 001decreases expression1
abrinedecreases expression1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidineincreases expression, increases response to substance1
jinfukangdecreases expression1
gardiquimoddecreases expression, decreases reaction1
NSC 689534affects binding, decreases expression1
Resveratrolaffects cotreatment, increases expression1
Temozolomidedecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Ethanolincreases expression1
Arsenicincreases abundance, affects cotreatment, decreases expression1
Benzo(a)pyreneincreases methylation1
Cadmiumdecreases expression, increases abundance1
Carbamazepineaffects expression1
Copperaffects binding, decreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.