EVA1B

gene
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Also known as FLJ10647

Summary

EVA1B (eva-1 homolog B, HGNC:25558) is a protein-coding gene on chromosome 1p34.3, encoding Protein eva-1 homolog B (Q9NVM1).

Predicted to be located in membrane.

Source: NCBI Gene 55194 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 23 total
  • MANE Select transcript: NM_001304762

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25558
Approved symbolEVA1B
Nameeva-1 homolog B
Location1p34.3
Locus typegene with protein product
StatusApproved
AliasesFLJ10647
Ensembl geneENSG00000142694
Ensembl biotypeprotein_coding
Entrez55194

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000270824, ENST00000490466, ENST00000902078, ENST00000937787

RefSeq mRNA: 2 — MANE Select: NM_001304762 NM_001304762, NM_018166

CCDS: CCDS406

Canonical transcript exons

ENST00000490466 — 3 exons

ExonStartEnd
ENSE000018247243632345936323645
ENSE000019581713632203036322725
ENSE000039167203632297136323067

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 95.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.9158 / max 454.7009, expressed in 1724 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1171330.28031722
117140.6355422

Top tissues by expression

267 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
descending thoracic aortaUBERON:000234595.20gold quality
stromal cell of endometriumCL:000225595.08gold quality
thoracic aortaUBERON:000151594.87gold quality
ascending aortaUBERON:000149694.86gold quality
metanephros cortexUBERON:001053393.69gold quality
endocervixUBERON:000045893.57gold quality
left coronary arteryUBERON:000162692.87gold quality
aortaUBERON:000094792.34gold quality
ectocervixUBERON:001224992.24gold quality
right coronary arteryUBERON:000162592.21gold quality
coronary arteryUBERON:000162191.85gold quality
apex of heartUBERON:000209891.44gold quality
right ovaryUBERON:000211891.42gold quality
body of uterusUBERON:000985390.93gold quality
popliteal arteryUBERON:000225090.65gold quality
tibial arteryUBERON:000761090.64gold quality
deciduaUBERON:000245090.33gold quality
left uterine tubeUBERON:000130390.21gold quality
omental fat padUBERON:001041490.00gold quality
peritoneumUBERON:000235889.94gold quality
right lungUBERON:000216789.85gold quality
left ovaryUBERON:000211989.70gold quality
spleenUBERON:000210689.53gold quality
mucosa of stomachUBERON:000119989.33gold quality
adipose tissue of abdominal regionUBERON:000780888.96gold quality
placentaUBERON:000198788.95gold quality
minor salivary glandUBERON:000183088.48gold quality
esophagogastric junction muscularis propriaUBERON:003584188.47gold quality
cartilage tissueUBERON:000241888.32gold quality
lower esophagus muscularis layerUBERON:003583388.15gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-MTAB-10287yes113.29
E-MTAB-8271yes15.05
E-ANND-3yes5.24
E-CURD-112yes4.42
E-MTAB-7606no274.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting EVA1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-579-3P99.8671.663628
HSA-MIR-444799.8567.812900
HSA-MIR-664B-3P99.8471.653590
HSA-MIR-128-1-5P99.3360.46332
HSA-MIR-5587-5P99.0768.58838
HSA-MIR-1301-3P98.6468.271071
HSA-MIR-504798.6468.621035
HSA-MIR-6827-5P98.4664.881256
HSA-MIR-6726-5P95.9763.72841
HSA-MIR-92095.9763.95811
HSA-MIR-430095.8564.561003
HSA-MIR-5591-5P95.8564.761002

Literature-anchored findings (GeneRIF, showing 1)

  • EVA1B to Evaluate the Tumor Immune Microenvironment and Clinical Prognosis in Glioma. (PMID:33889156)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
danio_rerioeva1bbENSDARG00000100698
mus_musculusEva1bENSMUSG00000050212

Paralogs (1): EVA1A (ENSG00000115363)

Protein

Protein identifiers

Protein eva-1 homolog BQ9NVM1 (reviewed: Q9NVM1)

Alternative names: Protein FAM176B

All UniProt accessions (1): Q9NVM1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the EVA1 family.

RefSeq proteins (2): NP_001291691, NP_060636 (=MANE)

Domains & families (InterPro)

IDNameType
IPR039500EVA1_domDomain
IPR052461EVA1_A/BFamily

Pfam: PF14851

UniProt features (8 total): modified residue 3, region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NVM1-F162.510.08

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 (3): 85, 148, 158

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): E2F_Q4_01, BOYLAN_MULTIPLE_MYELOMA_D_DN, TGCTGAY_UNKNOWN, chr1p34, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, PTF1BETA_Q6, RGAGGAARY_PU1_Q6, E2F_Q6_01, E2F_Q3_01, GAUSSMANN_MLL_AF4_FUSION_TARGETS_D_UP, MZF1_02, HMGIY_Q6, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, ER_Q6_01

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
cellular anatomical structure1

Protein interactions and networks

STRING

366 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
EVA1BSLFN13Q68D06768
EVA1BMNMIP1A4FU49477
EVA1BMTG2Q9H4K7475
EVA1BC11orf68Q9H3H3446
EVA1BCMPK2Q5EBM0443
EVA1BDECR2Q9NUI1428
EVA1BTMEM252Q8N6L7410
EVA1BETNK2Q9NVF9406
EVA1BXPNPEP3Q9NQH7404
EVA1BOASLQ15646398
EVA1BRSAD2Q8WXG1387
EVA1BIFIT3O14879386
EVA1BOAS1P00973383
EVA1BZCCHC17Q9NP64382
EVA1BGGTLC2Q14390378

IntAct

36 interactions, top by confidence:

ABTypeScore
EVA1BSGTApsi-mi:“MI:0915”(physical association)0.720
SGTAEVA1Bpsi-mi:“MI:0915”(physical association)0.720
EVA1BCYSRT1psi-mi:“MI:0915”(physical association)0.560
CYSRT1EVA1Bpsi-mi:“MI:0915”(physical association)0.560
HOXA1EVA1Bpsi-mi:“MI:0915”(physical association)0.560
ANXA1EVA1Bpsi-mi:“MI:0915”(physical association)0.560
CALREVA1Bpsi-mi:“MI:0915”(physical association)0.560
DLSTEVA1Bpsi-mi:“MI:0915”(physical association)0.560
EVA1BNEK7psi-mi:“MI:0915”(physical association)0.560
DLK1TCAF2psi-mi:“MI:0914”(association)0.530
CA14EXOC5psi-mi:“MI:0914”(association)0.530
EVA1BNRP1psi-mi:“MI:0914”(association)0.530
ESYT2psi-mi:“MI:0914”(association)0.350
CA14DNM1Lpsi-mi:“MI:0914”(association)0.350
EVA1BC2CD2Lpsi-mi:“MI:0914”(association)0.350
EVA1BTMEM131Lpsi-mi:“MI:0914”(association)0.350
CA14ORC4psi-mi:“MI:0914”(association)0.350
PDPNORC4psi-mi:“MI:0914”(association)0.350

BioGRID (72): EVA1B (Two-hybrid), EVA1B (Affinity Capture-MS), EVA1B (Affinity Capture-MS), EVA1B (Co-fractionation), EVA1B (Two-hybrid), EVA1B (Two-hybrid), AREL1 (Affinity Capture-MS), PTPRK (Affinity Capture-MS), PPIL2 (Affinity Capture-MS), SDC2 (Affinity Capture-MS), SDC4 (Affinity Capture-MS), RNF166 (Affinity Capture-MS), LEMD3 (Affinity Capture-MS), TRIM27 (Affinity Capture-MS), WDR45B (Affinity Capture-MS)

ESM2 similar proteins: A0PJX4, A2A8U2, A4D2P6, A6QM06, D4A6L0, E1BBQ2, O15079, O60320, P12755, P49797, P97260, Q0D2I5, Q12770, Q15884, Q1RMB5, Q3TS39, Q3UPR0, Q4FZH1, Q5MNU5, Q5SNT2, Q5T848, Q5XKK7, Q60698, Q6A044, Q7T0Z7, Q7TMB0, Q7TPB0, Q810F0, Q86XR5, Q8BX43, Q8BXL9, Q8C419, Q8CA71, Q8K064, Q8K2Y3, Q8N114, Q8NDY8, Q8WV15, Q91WM6, Q92537

Diamond homologs: O88917, O88923, O94910, O95490, O97817, O97827, O97831, P58658, P58659, P86178, Q08CB3, Q68US5, Q80TR1, Q80TS3, Q8JZZ7, Q8K2Y3, Q91WM6, Q9H8M9, Q9HAR2, Q9NVM1, Q9SCV9, Q9XU98, Q9Z173, B3MFV7, B3N8M1, B4HS00, B4J780, B4KMZ1, B4P3A0, Q292N4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

23 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance21
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

437 predictions. Top by Δscore:

VariantEffectΔscore
1:36322722:TTGG:Tacceptor_gain0.9900
1:36322723:TGG:Tacceptor_gain0.9900
1:36322726:C:CCacceptor_gain0.9900
1:36322721:GTTGG:Gacceptor_gain0.9800
1:36322724:GG:Gacceptor_gain0.9800
1:36322725:GC:Gacceptor_loss0.9800
1:36322726:C:Tacceptor_loss0.9800
1:36322727:T:Aacceptor_loss0.9800
1:36322953:T:TAdonor_gain0.9700
1:36322970:CCG:Cdonor_gain0.9700
1:36323063:CCAGC:Cacceptor_gain0.9700
1:36323064:CAGCC:Cacceptor_gain0.9700
1:36323185:C:Adonor_gain0.9700
1:36323456:CACCG:Cdonor_loss0.9600
1:36323457:A:AGdonor_loss0.9600
1:36323891:A:ACdonor_gain0.9600
1:36323892:C:CCdonor_gain0.9600
1:36323892:CTCCG:Cdonor_gain0.9600
1:36322728:G:Cacceptor_loss0.9500
1:36323184:T:TAdonor_gain0.9500
1:36323190:A:Cdonor_gain0.9500
1:36322969:A:ACdonor_gain0.9400
1:36322970:C:CCdonor_gain0.9400
1:36323457:A:ACdonor_gain0.9400
1:36323458:C:CCdonor_gain0.9400
1:36324065:T:TAdonor_gain0.9400
1:36323066:GCCTG:Gacceptor_loss0.9300
1:36323067:CCT:Cacceptor_loss0.9300
1:36323068:C:Aacceptor_loss0.9300
1:36323069:T:Gacceptor_loss0.9300

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000297447 (1:36322118 C>A,G,T), RS1000965000 (1:36322797 A>G), RS1001333537 (1:36323084 G>A,T), RS1002037077 (1:36322744 G>A,C,T), RS1003347480 (1:36325535 T>G), RS1003488537 (1:36325354 A>G,T), RS1003766771 (1:36325022 T>C), RS1004120633 (1:36324762 T>G), RS1004139716 (1:36324860 A>C), RS1004889841 (1:36324423 G>A), RS1005554377 (1:36325992 G>A,C), RS1005591187 (1:36322474 G>A,T), RS1005733060 (1:36323860 A>C,T), RS1005765675 (1:36323664 G>A), RS1005895174 (1:36323594 C>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

1 associations (top):

StudyTraitp-value
GCST90000025_914Appendicular lean mass2.000000e-23

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004980appendicular lean mass

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.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneincreases expression, increases methylation4
Tetrachlorodibenzodioxinincreases expression3
Estradioldecreases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
FR900359increases phosphorylation1
dicrotophosdecreases expression1
methylmercuric chlorideincreases expression1
methyleugenolincreases expression1
triphenyl phosphateaffects expression1
pirinixic acidaffects binding, decreases expression, increases activity1
bisphenol Aincreases methylation1
ethyl-p-hydroxybenzoateincreases expression1
hydroxyhydroquinoneincreases expression1
beta-lapachoneincreases expression1
arseniteaffects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinincreases expression, affects cotreatment1
eprenetapoptaffects expression, affects reaction1
licochalcone Bincreases expression1
bisphenol Sdecreases methylation, affects cotreatment1
jinfukangincreases expression, affects cotreatment1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic aciddecreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Acetaminophenincreases expression1
Atrazineincreases expression1
Cadmiumincreases abundance, increases expression1
Caffeinedecreases phosphorylation1
Calcitriolincreases expression, affects cotreatment1
Cisplatinaffects cotreatment, increases expression1
Dimethyl Sulfoxideaffects expression1

Clinical trials (associated diseases)

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

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