PARVG

gene
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Summary

PARVG (parvin gamma, HGNC:14654) is a protein-coding gene on chromosome 22q13.31, encoding Gamma-parvin (Q9HBI0). Plays a role with ILK in promoting the cell adhesion and spreading of leukocytes.

Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.

Source: NCBI Gene 64098 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 70 total
  • Druggable target: yes
  • MANE Select transcript: NM_022141

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14654
Approved symbolPARVG
Nameparvin gamma
Location22q13.31
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000138964
Ensembl biotypeprotein_coding
OMIM608122
Entrez64098

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 29 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000356909, ENST00000416291, ENST00000417767, ENST00000422871, ENST00000444313, ENST00000453888, ENST00000466375, ENST00000468564, ENST00000471836, ENST00000472551, ENST00000475485, ENST00000877232, ENST00000877233, ENST00000877234, ENST00000877235, ENST00000877236, ENST00000877237, ENST00000877238, ENST00000877239, ENST00000877240, ENST00000877241, ENST00000877242, ENST00000877243, ENST00000877244, ENST00000964876, ENST00000964877, ENST00000964878, ENST00000964879, ENST00000964880, ENST00000964881, ENST00000964882, ENST00000964883, ENST00000964884, ENST00000964885, ENST00000964886

RefSeq mRNA: 2 — MANE Select: NM_022141 NM_001137605, NM_022141

CCDS: CCDS14057

Canonical transcript exons

ENST00000444313 — 14 exons

ExonStartEnd
ENSE000009360274418777644187878
ENSE000012936974419204944192104
ENSE000013048194419615544196213
ENSE000013147494419380144193823
ENSE000013781604418174244181917
ENSE000017214674418092544181185
ENSE000018172794420631744208469
ENSE000034945864419055144190666
ENSE000035243184420575744205829
ENSE000035373464419862144198722
ENSE000035556254418911444189254
ENSE000036902224419634744196415
ENSE000037011944418580844185872
ENSE000037994244418331844183408

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 98.96.

FANTOM5 (CAGE): breadth broad, TPM avg 15.0142 / max 1323.8581, expressed in 550 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter IDTPM avgSamples expressed
1926686.3576462
1926653.8054437
1926661.2683319
1926590.7009157
1926700.5588221
1926620.5168181
1926640.4477191
1926600.3206103
1926670.2745119
1926580.231492

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
granulocyteCL:000009498.96gold quality
monocyteCL:000057698.34gold quality
leukocyteCL:000073898.26gold quality
spleenUBERON:000210697.39gold quality
bloodUBERON:000017896.92gold quality
vermiform appendixUBERON:000115496.82gold quality
lymph nodeUBERON:000002995.46gold quality
bone marrowUBERON:000237193.55gold quality
bone marrow cellCL:000209293.46gold quality
upper lobe of left lungUBERON:000895291.92gold quality
right lungUBERON:000216791.28gold quality
upper lobe of lungUBERON:000894891.11gold quality
caecumUBERON:000115390.14gold quality
oocyteCL:000002389.75gold quality
ileal mucosaUBERON:000033189.43gold quality
small intestine Peyer’s patchUBERON:000345489.11gold quality
gall bladderUBERON:000211088.96gold quality
trabecular bone tissueUBERON:000248388.56gold quality
thymusUBERON:000237087.67gold quality
small intestineUBERON:000210887.06gold quality
C1 segment of cervical spinal cordUBERON:000646986.49gold quality
superficial temporal arteryUBERON:000161485.97gold quality
right coronary arteryUBERON:000162585.64gold quality
tonsilUBERON:000237285.31gold quality
lungUBERON:000204885.19gold quality
left ventricle myocardiumUBERON:000656684.85gold quality
omental fat padUBERON:001041484.85gold quality
peritoneumUBERON:000235884.79gold quality
cardiac muscle of right atriumUBERON:000337984.62gold quality
spinal cordUBERON:000224084.47gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-6701yes21.19
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting PARVG, 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-4692100.0067.322066
HSA-MIR-4455100.0065.481587
HSA-MIR-4283100.0066.422097
HSA-MIR-451499.9967.101870
HSA-MIR-453499.9966.581907
HSA-MIR-9-3P99.9670.882068
HSA-MIR-448799.9664.581252
HSA-MIR-185-3P99.9567.011743
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-449299.8768.253611
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-629-3P99.8567.991875
HSA-MIR-444799.8567.812900
HSA-MIR-132399.8369.892471
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-6756-5P99.8267.972466
HSA-MIR-4713-5P99.7867.801794
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-431999.7669.832586
HSA-MIR-6764-5P99.7567.892304
HSA-MIR-149-3P99.7268.223963
HSA-MIR-378G99.7164.901106
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-6766-5P99.6867.702325
HSA-MIR-6887-3P99.6667.831778

Literature-anchored findings (GeneRIF, showing 4)

  • Mammalian parvins are likely to have arisen late in evolution from gene duplication as they share a remarkably similar exon/intron organization. (PMID:11722847)
  • INI1hSNF5 and PARVG do not seem to be the tumor suppressor genes involved in oligodendroglioma development and progression (PMID:15993274)
  • integrin-linked kinase-gamma-parvin complex is critically involved in the initial integrin signaling for leukocyte migration (PMID:16517730)
  • Suggest role for PARVG gene polymorphisms in operational renal allograft tolerance. (PMID:23146538)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioparvgENSDARG00000067711
mus_musculusParvgENSMUSG00000022439
rattus_norvegicusParvgENSRNOG00000052064
drosophila_melanogasterparvinFBGN0052528
caenorhabditis_elegansWBGENE00003932

Paralogs (2): PARVB (ENSG00000188677), PARVA (ENSG00000197702)

Protein

Protein identifiers

Gamma-parvinQ9HBI0 (reviewed: Q9HBI0)

All UniProt accessions (4): B0QYM9, B0QYN0, Q9HBI0, U3KQ67

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role with ILK in promoting the cell adhesion and spreading of leukocytes.

Subunit / interactions. Interacts with ILK; the interaction promotes the establishment of cell polarity required for leukocyte migration. Interacts with ARHGEF6; the guanine nucleotide exchange factor activity of ARHGEF6 is essential for the PARVG-induced enhancement of cell spreading.

Subcellular location. Cell junction. Focal adhesion. Cell membrane. Cytoplasm. Cytoskeleton.

Tissue specificity. Expressed predominantly in lymphoid organs, including spleen, thymus, lymph node, bone marrow and peripheral blood leukocytes and moderately in the digestive tract, including stomach, duodenum, jejunum, ileum, ileocecum and appendix, as well as in lung and liver. Also expressed in tumors, but at a lower level than in the corresponding normal tissues.

Similarity. Belongs to the parvin family.

Isoforms (5)

UniProt IDNamesCanonical?
Q9HBI0-11yes
Q9HBI0-22
Q9HBI0-33
Q9HBI0-44
Q9HBI0-55

RefSeq proteins (2): NP_001131077, NP_071424* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001715CH_domDomain
IPR028433ParvinFamily
IPR036872CH_dom_sfHomologous_superfamily

Pfam: PF00307

UniProt features (13 total): splice variant 7, domain 2, chain 1, sequence conflict 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9HBI0-F181.770.49

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 135 (showing top): GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING, GOMF_ACTIN_BINDING, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_SUBSTRATE_ADHESION, GOBP_CELL_MATRIX_ADHESION, GOBP_REGULATION_OF_CELL_SHAPE, chr22q13, GOCC_ANCHORING_JUNCTION, GOMF_CYTOSKELETAL_PROTEIN_BINDING, MIKKELSEN_ES_ICP_WITH_H3K27ME3, NRL_DN.V1_DN, CHAF1B_TARGET_GENES, CIITA_TARGET_GENES

GO Biological Process (6): cell-matrix adhesion (GO:0007160), cell projection assembly (GO:0030031), actin cytoskeleton organization (GO:0030036), substrate adhesion-dependent cell spreading (GO:0034446), establishment or maintenance of cell polarity regulating cell shape (GO:0071963), cell adhesion (GO:0007155)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), membrane (GO:0016020), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cell-substrate adhesion2
cellular anatomical structure2
cellular component assembly1
cell projection organization1
cytoskeleton organization1
actin filament-based process1
establishment or maintenance of cell polarity1
regulation of cell shape1
cellular process1
cytoskeletal protein binding1
binding1
intracellular anatomical structure1
intracellular membraneless organelle1
membrane1
cell periphery1
cell-substrate junction1
cytoskeleton1
cell junction1

Protein interactions and networks

STRING

1466 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PARVGLIMS1P48059997
PARVGILKP57043997
PARVGPXNP49023935
PARVGRSU1Q15404866
PARVGTLN2Q9Y4G6864
PARVGTLN1Q9Y490855
PARVGLIMS2Q7Z4I7750
PARVGVCLP18206732
PARVGARHGEF6Q15052730
PARVGNCK2O43639657
PARVGZYXQ15942584
PARVGVASPP50552549
PARVGTGFB1I1O43294539
PARVGPTK2Q05397533
PARVGFERMT2Q96AC1507

IntAct

139 interactions, top by confidence:

ABTypeScore
ILKPARVGpsi-mi:“MI:0915”(physical association)0.900
PARVGILKpsi-mi:“MI:0915”(physical association)0.900
STRN3STRNpsi-mi:“MI:2364”(proximity)0.880
USHBP1PARVGpsi-mi:“MI:0915”(physical association)0.720
PARVGUSHBP1psi-mi:“MI:0915”(physical association)0.720
PARVGTLE5psi-mi:“MI:0915”(physical association)0.700
TLE5PARVGpsi-mi:“MI:0915”(physical association)0.700
PARVGLIMS1psi-mi:“MI:0914”(association)0.640
PARVGKLHL32psi-mi:“MI:0915”(physical association)0.560
MEOX2PARVGpsi-mi:“MI:0915”(physical association)0.560
RELPARVGpsi-mi:“MI:0915”(physical association)0.560
PARVGTLE5psi-mi:“MI:0915”(physical association)0.560
TLE5PARVGpsi-mi:“MI:0915”(physical association)0.560

BioGRID (71): PARVG (Two-hybrid), PARVG (Two-hybrid), PARVG (Two-hybrid), PARVG (Two-hybrid), USHBP1 (Two-hybrid), KLHL32 (Two-hybrid), PARVG (Affinity Capture-MS), RSU1 (Affinity Capture-MS), LIMS1 (Affinity Capture-MS), ILK (Affinity Capture-MS), POLK (Affinity Capture-MS), AARSD1 (Affinity Capture-MS), PARVG (Two-hybrid), ILK (Affinity Capture-MS), RSU1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMA8, A1A535, A2AIV2, A6H8H2, A8E7C5, B7PXE3, D3ZHV2, F1REV3, O14617, O16785, O35711, O43150, O43903, O54774, P11862, P30427, Q14D04, Q5PQS3, Q5RAV3, Q5VZ89, Q61QK6, Q69YN4, Q6S5J6, Q6ZWQ0, Q6ZWR6, Q7SIG6, Q7Z3E5, Q865S1, Q8C1B1, Q8C4Q6, Q8CDA1, Q8NF91, Q8NFA0, Q91V36, Q91ZU6, Q96BJ3, Q99K01, Q9BXL7, Q9EPC1, Q9ERD8

Diamond homologs: O16785, Q1ZXH8, Q9EPC1, Q9ERD8, Q9ES46, Q9HB97, Q9HBI0, Q9HBI1, Q9NVD7, Q9VEN1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance51
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2664 predictions. Top by Δscore:

VariantEffectΔscore
22:44173190:AGG:Adonor_loss1.0000
22:44173191:GGTG:Gdonor_loss1.0000
22:44187874:ATTCC:Adonor_gain1.0000
22:44187876:TCC:Tdonor_gain1.0000
22:44187877:CC:Cdonor_gain1.0000
22:44187877:CCG:Cdonor_loss1.0000
22:44187878:CGT:Cdonor_loss1.0000
22:44187879:G:Cdonor_loss1.0000
22:44187879:G:GGdonor_gain1.0000
22:44187880:T:Adonor_loss1.0000
22:44189113:GA:Gacceptor_gain1.0000
22:44189113:GAGA:Gacceptor_gain1.0000
22:44189250:GGAGA:Gdonor_gain1.0000
22:44189251:GAGA:Gdonor_gain1.0000
22:44189251:GAGAG:Gdonor_gain1.0000
22:44189252:A:Tdonor_gain1.0000
22:44189253:GA:Gdonor_gain1.0000
22:44189255:GTAC:Gdonor_gain1.0000
22:44189285:G:Tdonor_gain1.0000
22:44190546:CCCA:Cacceptor_loss1.0000
22:44190548:CA:Cacceptor_loss1.0000
22:44190549:A:AGacceptor_gain1.0000
22:44190549:A:Gacceptor_loss1.0000
22:44190549:AG:Aacceptor_gain1.0000
22:44190550:G:GTacceptor_gain1.0000
22:44190550:GG:Gacceptor_gain1.0000
22:44190550:GGC:Gacceptor_gain1.0000
22:44190550:GGCAT:Gacceptor_gain1.0000
22:44192047:A:AGacceptor_gain1.0000
22:44192048:G:GGacceptor_gain1.0000

AlphaMissense

2170 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
22:44198630:G:TG241W0.995
22:44198690:T:CF261L0.993
22:44198692:C:AF261L0.993
22:44198692:C:GF261L0.993
22:44198631:G:AG241E0.992
22:44205765:C:AN274K0.992
22:44205765:C:GN274K0.992
22:44198631:G:TG241V0.990
22:44187855:G:AG75E0.989
22:44187873:T:CL81P0.989
22:44189242:T:AW126R0.989
22:44189242:T:CW126R0.989
22:44198672:T:CF255L0.988
22:44198674:C:AF255L0.988
22:44198674:C:GF255L0.988
22:44189183:T:CL106P0.986
22:44198630:G:AG241R0.985
22:44198630:G:CG241R0.985
22:44198649:T:CL247P0.985
22:44187825:T:AV65D0.984
22:44187842:G:CD71H0.984
22:44187854:G:TG75W0.983
22:44198622:T:CF238S0.983
22:44198703:C:AP265H0.983
22:44198646:T:CL246S0.982
22:44187788:T:AW53R0.981
22:44187788:T:CW53R0.981
22:44190587:T:CL142P0.981
22:44205767:T:AV275D0.981
22:44205776:C:AA278E0.981

dbSNP variants (sampled 300 via entrez): RS1000000265 (22:44205008 A>G,T), RS1000066302 (22:44171451 T>C,G), RS1000102608 (22:44187951 G>A), RS1000191469 (22:44190727 C>A,G,T), RS1000207857 (22:44190882 G>C), RS1000256323 (22:44185377 C>A,T), RS1000341515 (22:44174892 C>T), RS1000395529 (22:44176739 A>G,T), RS1000462520 (22:44201416 A>C,G), RS1000578483 (22:44201560 C>T), RS1000690422 (22:44196342 G>A), RS1000769394 (22:44185644 G>A), RS1000827314 (22:44181993 A>G), RS1001030402 (22:44186742 G>T), RS1001153882 (22:44183310 CTG>C)

Disease associations

OMIM: gene MIM:608122 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST002822_9Survival in colon cancer7.000000e-06
GCST009391_1714Metabolite levels1.000000e-06
GCST011983_24Fasting glucose5.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0000638overall survival
EFO:0010341cholesteryl ester 16:0 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5793 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases methylation2
GSK-J4decreases expression1
beauvericinaffects cotreatment, increases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases methylation1
sodium arseniteincreases expression1
benzo(e)pyreneincreases methylation1
potassium chromate(VI)affects cotreatment, decreases expression1
aflatoxin B2increases methylation1
epigallocatechin gallateaffects cotreatment, decreases expression1
enniatinsaffects cotreatment, increases expression1
abrinedecreases expression1
(+)-JQ1 compounddecreases expression1
Air Pollutantsaffects expression, increases abundance1
Caffeinedecreases phosphorylation1
Calcitrioldecreases expression1
Methapyrileneincreases methylation1
Nickelincreases expression1
Ozoneaffects expression, increases abundance1
Tretinoinincreases expression1
Valproic Acidincreases methylation1
Vanadatesdecreases expression1
Aflatoxin B1increases methylation1
Antirheumatic Agentsdecreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL960403BindingBinding affinity to gamma-parvin in human Jurkat cells at 100 uM by Western blot analysisA small molecule inhibitor of alpha4 integrin-dependent cell migration. — Bioorg Med Chem

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): colonic neoplasm