EEIG2

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
• 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: 9 — 8 protein_coding, 1 retained_intron

ENST00000370035, ENST00000405454, ENST00000483371, ENST00000931504, ENST00000931505, ENST00000931506, ENST00000931507, ENST00000931508, ENST00000931509

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.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4348	12.4709	1634

Top tissues by expression

254 total, 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

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

204 targeting EEIG2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

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

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)

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

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T8I3-F1	70.80	0.37

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): 228, 276, 288, 320, 321, 350

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

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

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

716 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EEIG2	FNDC7	Q5VTL7	506
EEIG2	ANKRD39	Q53RE8	497
EEIG2	AKNAD1	Q5T1N1	464
EEIG2	TMEM167B	Q9NRX6	460
EEIG2	ANKRD23	Q86SG2	457
EEIG2	PRPF38B	Q5VTL8	452
EEIG2	WDR47	O94967	419
EEIG2	TMEM37	Q8WXS4	405
EEIG2	SGTB	Q96EQ0	403
EEIG2	PCP2	Q8IVA1	400
EEIG2	TMEM220	Q6QAJ8	395
EEIG2	NSG1	P42857	394
EEIG2	TRAPPC5	Q8IUR0	392
EEIG2	GPSM2	P81274	391
EEIG2	PAFAH1B3	Q15102	386

IntAct

4 interactions, top by confidence:

A	B	Type	Score
PRDM5	CASC3	psi-mi:“MI:0914”(association)	0.350
BUD13	RPSA2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (16): FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-RNA), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-MS), FAM102B (Affinity Capture-RNA)

ESM2 similar proteins: A0A1I9LQ12, B1B5D5, B9DGG8, F4HV65, F4J8V5, F4JHN2, O64851, O64852, O82645, P0DO24, Q058N0, Q29PZ2, Q2NND9, Q4PSK3, Q5HZ09, Q5JKN2, Q5NB83, Q5T8I3, Q69P88, Q7XA83, Q84U09, Q8BQS4, Q8GRN0, Q8GY65, Q8GYX2, Q8L7S5, Q8L9W8, Q8S307, Q8S8I1, Q8WWR9, Q945P6, Q94AR4, Q94B71, Q966L3, Q9C593, Q9C690, Q9CA36, Q9CAI2, Q9FJF5, Q9FLX4

Diamond homologs: Q5T8I3, Q5T9C2, Q6GNM6, Q78T81, Q8BQS4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1795 predictions. Top by Δscore:

Variant	Effect	Δscore
1:108560566:G:GA	donor_loss	1.0000
1:108560567:T:A	donor_loss	1.0000
1:108600683:G:GT	donor_gain	1.0000
1:108600684:A:T	donor_gain	1.0000
1:108612175:T:G	acceptor_gain	1.0000
1:108612176:A:AG	acceptor_gain	1.0000
1:108612176:AGCT:A	acceptor_gain	1.0000
1:108612176:AGCTG:A	acceptor_gain	1.0000
1:108612177:G:GG	acceptor_gain	1.0000
1:108612177:GCT:G	acceptor_gain	1.0000
1:108612177:GCTG:G	acceptor_gain	1.0000
1:108612177:GCTGG:G	acceptor_gain	1.0000
1:108612277:GA:G	donor_gain	1.0000
1:108612292:AAAG:A	donor_loss	1.0000
1:108612293:AAGT:A	donor_loss	1.0000
1:108612294:AGT:A	donor_loss	1.0000
1:108612295:G:GG	donor_gain	1.0000
1:108612295:G:T	donor_loss	1.0000
1:108612296:T:A	donor_loss	1.0000
1:108628581:GCAG:G	donor_gain	1.0000
1:108628584:GGTAT:G	donor_loss	1.0000
1:108628585:GTAT:G	donor_loss	1.0000
1:108628586:T:A	donor_loss	1.0000
1:108628674:A:G	acceptor_gain	1.0000
1:108628805:GTGT:G	donor_gain	1.0000
1:108629586:A:AG	acceptor_gain	1.0000
1:108629587:G:GG	acceptor_gain	1.0000
1:108629587:GAA:G	acceptor_gain	1.0000
1:108560566:G:GG	donor_gain	0.9900
1:108600565:GGGA:G	acceptor_gain	0.9900

AlphaMissense

2356 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:108560481:T:C	L18P	1.000
1:108600589:T:A	V54D	1.000
1:108600594:T:A	W56R	1.000
1:108600594:T:C	W56R	1.000
1:108600683:G:C	R85S	1.000
1:108600683:G:T	R85S	1.000
1:108612181:G:C	G98R	1.000
1:108612283:T:C	S132P	1.000
1:108560454:T:C	F9S	0.999
1:108560490:T:A	V21E	0.999
1:108560513:T:C	F29L	0.999
1:108560515:C:A	F29L	0.999
1:108560515:C:G	F29L	0.999
1:108560518:C:G	C30W	0.999
1:108600595:G:C	W56S	0.999
1:108600596:G:C	W56C	0.999
1:108600596:G:T	W56C	0.999
1:108600671:A:C	R81S	0.999
1:108600671:A:T	R81S	0.999
1:108600679:T:A	V84E	0.999
1:108600682:G:C	R85T	0.999
1:108600682:G:T	R85M	0.999
1:108606252:G:C	K96N	0.999
1:108606252:G:T	K96N	0.999
1:108612182:G:A	G98D	0.999
1:108612182:G:T	G98V	0.999
1:108612184:T:C	F99L	0.999
1:108612186:T:A	F99L	0.999
1:108612186:T:G	F99L	0.999
1:108612194:T:C	L102P	0.999

dbSNP variants (sampled 300 via entrez): RS1000019741 (1:108566205 G>C), RS1000059380 (1:108600639 G>A,T), RS1000080752 (1:108558555 T>C), RS1000094483 (1:108617445 A>G), RS1000116787 (1:108618630 C>T), RS1000119413 (1:108627634 G>A), RS1000215923 (1:108559030 C>T), RS1000234366 (1:108603888 T>G), RS1000255912 (1:108628073 A>G), RS1000285793 (1:108581402 T>A), RS1000327402 (1:108604156 C>A), RS1000419475 (1:108613706 A>C,G), RS1000583257 (1:108626421 C>G), RS1000597140 (1:108639404 T>C), RS1000637101 (1:108588239 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects cotreatment, decreases expression, increases abundance	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	decreases expression, increases abundance, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, decreases expression	1
Carbamazepine	affects expression	1
Copper	affects binding, decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.