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GRAPL

gene
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Summary

GRAPL (GRB2 related adaptor protein like, HGNC:37240) is a protein-coding gene on chromosome 17p11.2, encoding GRB2-related adapter protein-like (Q8TC17).

Predicted to enable receptor tyrosine kinase binding activity and signaling adaptor activity. Predicted to be involved in cell migration and enzyme-linked receptor protein signaling pathway. Predicted to be located in cytosol. Predicted to be active in cytoplasm.

Source: NCBI Gene 400581 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 3 total
  • MANE Select transcript: NM_001129778

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:37240
Approved symbolGRAPL
NameGRB2 related adaptor protein like
Location17p11.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000189152
Ensembl biotypeprotein_coding
Entrez400581

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000344415, ENST00000437957, ENST00000574324, ENST00000577213, ENST00000583540

RefSeq mRNA: 2 — MANE Select: NM_001129778 NM_001129778, NM_001353418

CCDS: CCDS45627

Canonical transcript exons

ENST00000344415 — 4 exons

ExonStartEnd
ENSE000015363581915831919159187
ENSE000022592701912758919127697
ENSE000035438391913264219132739
ENSE000037876181913846619138588

Expression profiles

Bgee: expression breadth ubiquitous, 153 present calls, max score 85.98.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4427 / max 13.3248, expressed in 216 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1598280.4427216

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spleenUBERON:000210685.98gold quality
vermiform appendixUBERON:000115485.11gold quality
lymph nodeUBERON:000002980.59gold quality
granulocyteCL:000009477.26gold quality
small intestine Peyer’s patchUBERON:000345475.56gold quality
caecumUBERON:000115375.54gold quality
gall bladderUBERON:000211072.69gold quality
right uterine tubeUBERON:000130272.12gold quality
small intestineUBERON:000210871.85gold quality
upper lobe of left lungUBERON:000895271.65gold quality
tendon of biceps brachiiUBERON:000818871.36gold quality
colonic epitheliumUBERON:000039770.68gold quality
metanephros cortexUBERON:001053370.66gold quality
leukocyteCL:000073870.38gold quality
monocyteCL:000057670.13gold quality
right lobe of thyroid glandUBERON:000111969.94gold quality
bone marrow cellCL:000209269.66silver quality
upper lobe of lungUBERON:000894869.59gold quality
right lungUBERON:000216769.51gold quality
right adrenal glandUBERON:000123368.13gold quality
left lobe of thyroid glandUBERON:000112068.01gold quality
left adrenal gland cortexUBERON:003582567.92gold quality
omental fat padUBERON:001041467.81gold quality
peritoneumUBERON:000235867.74gold quality
thyroid glandUBERON:000204667.46gold quality
tonsilUBERON:000237267.40gold quality
bloodUBERON:000017867.20gold quality
mucosa of stomachUBERON:000119967.20gold quality
left adrenal glandUBERON:000123467.18gold quality
right adrenal gland cortexUBERON:003582767.05gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting GRAPL, 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-302E99.9670.742669
HSA-MIR-642A-5P99.5165.101152
HSA-MIR-6852-5P99.1766.692073
HSA-MIR-66199.0965.942062
HSA-MIR-3619-5P99.0068.872308
HSA-MIR-129498.9169.261030
HSA-MIR-998698.9169.281024
HSA-MIR-214-3P98.7168.122128
HSA-MIR-76198.7168.072051
HSA-MIR-471098.6165.961048
HSA-MIR-6881-5P98.1667.38665
HSA-MIR-444398.0266.251928
HSA-MIR-7855-5P97.3967.18925
HSA-MIR-6741-5P93.8663.06437
HSA-MIR-615-3P90.6268.0769

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriograpaENSDARG00000005414
danio_reriograpbENSDARG00000022668
mus_musculusGrapENSMUSG00000004837
rattus_norvegicusGrapENSRNOG00000002599
drosophila_melanogasterdockFBGN0010583
caenorhabditis_elegansWBGENE00006410

Paralogs (9): DAPP1 (ENSG00000070190), NCK2 (ENSG00000071051), GRAP2 (ENSG00000100351), SLA2 (ENSG00000101082), GRAP (ENSG00000154016), SLA (ENSG00000155926), NCK1 (ENSG00000158092), GRB2 (ENSG00000177885), SH2D5 (ENSG00000189410)

Protein

Protein identifiers

GRB2-related adapter protein-like — Q8TC17 (reviewed: Q8TC17)

All UniProt accessions (5): I3L2E9, J3QRP9, K7EKU7, K7ELI1, Q8TC17

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GRB2/sem-5/DRK family.

Isoforms (2)

UniProt IDNamesCanonical?
Q8TC17-11yes
Q8TC17-22

RefSeq proteins (2): NP_001123250, NP_001340347 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000980SH2Domain
IPR001452SH3_domainDomain
IPR035645GRAP_N_SH3Domain
IPR036028SH3-like_dom_sfHomologous_superfamily
IPR036860SH2_dom_sfHomologous_superfamily
IPR043539Grb2-likeFamily

Pfam: PF00017, PF00018

UniProt features (6 total): domain 2, chain 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8TC17-F186.620.65

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): GOMF_SIGNALING_RECEPTOR_BINDING, GOMF_KINASE_BINDING, GOMF_PROTEIN_TYROSINE_KINASE_BINDING, GOMF_SIGNALING_ADAPTOR_ACTIVITY, GOMF_RECEPTOR_TYROSINE_KINASE_BINDING, GOBP_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY, MIR6881_5P, GOMF_MOLECULAR_ADAPTOR_ACTIVITY, DESCARTES_MAIN_FETAL_LYMPHATIC_ENDOTHELIAL_CELLS, DESCARTES_FETAL_ADRENAL_VASCULAR_ENDOTHELIAL_CELLS, GSE17974_0H_VS_2H_IN_VITRO_ACT_CD4_TCELL_DN, GOBP_CELL_MOTILITY, HE_LIM_SUN_FETAL_LUNG_C4_CYCLING_T_CELL, GOBP_CELL_MIGRATION, GSE9960_HEALTHY_VS_SEPSIS_PBMC_DN

GO Biological Process (2): enzyme-linked receptor protein signaling pathway (GO:0007167), cell migration (GO:0016477)

GO Molecular Function (3): receptor tyrosine kinase binding (GO:0030971), signaling adaptor activity (GO:0035591), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
cell surface receptor signaling pathway1
cell motility1
signaling receptor binding1
protein tyrosine kinase binding1
protein-macromolecule adaptor activity1
binding1
intracellular anatomical structure1
cytoplasm1

Protein interactions and networks

STRING

514 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GRAPLLCNL1Q6ZST4488
GRAPLLRRC24Q50LG9404
GRAPLCLEC17AQ6ZS10386
GRAPLSACK1GA6ND36377
GRAPLCLEC12BQ2HXU8356
GRAPLNOC3LQ8WTT2356
GRAPLPDILTQ8N807351
GRAPLOPN1MW2P0DN77350
GRAPLOPN1LWP04000350
GRAPLFCAMRQ8WWV6342
GRAPLSLC14A2Q15849310
GRAPLCLNKQ7Z7G1301
GRAPLCCNB1IP1Q9NPC3301
GRAPLTDRD6O60522298
GRAPLSH2D2AQ9NP31293

IntAct

14 interactions, top by confidence:

ABTypeScore
ZNF76GRAPLpsi-mi:“MI:0915”(physical association)0.560
TCP11GRAPLpsi-mi:“MI:0915”(physical association)0.560
RIPPLY1GRAPLpsi-mi:“MI:0915”(physical association)0.560
GRAPLTCP11psi-mi:“MI:0915”(physical association)0.560
PRKAB2GRAPLpsi-mi:“MI:0915”(physical association)0.560
GRAPLTPGS2psi-mi:“MI:0915”(physical association)0.400
RIPPLY1GRAPLpsi-mi:“MI:0915”(physical association)0.000
PRKAB2GRAPLpsi-mi:“MI:0915”(physical association)0.000

BioGRID (6): GRAPL (Two-hybrid), GRAPL (Two-hybrid), GRAPL (Two-hybrid), GRAPL (Two-hybrid), TPGS2 (Affinity Capture-MS), GRAPL (Affinity Capture-RNA)

ESM2 similar proteins: A6QLK6, O14508, O35717, O70277, O75382, O88582, O95057, P09851, P20936, P49138, P50904, P57790, P62993, P62994, P87379, Q05B84, Q07883, Q08012, Q13588, Q14145, Q16644, Q2T9Z7, Q3SYZ2, Q5PR73, Q5R4J7, Q5R6S2, Q5R774, Q5RKN4, Q5ZLD3, Q60631, Q66H84, Q66II3, Q684M4, Q6GPJ9, Q6TDP3, Q6YKA8, Q6ZPT1, Q7YRV6, Q861R0, Q8TC17

Diamond homologs: A0JNB0, A1CEK6, A1DFN5, A1Y2K1, A2QW93, A4IF63, A4RF61, A5D7F8, A5D8S5, A6QLK6, A7A261, B0BNA1, B1V8A0, D2GXS7, D3ZQG6, F1RDG9, F7H9X2, O01498, O08641, O35179, O35180, O35964, O43125, O70277, O75382, P06241, P09769, P0CR79, P13406, P19706, P19878, P27446, P32793, P39688, P43603, P62484, Q08012, Q09822, Q0CJU8, Q0U6X7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance2
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

805 predictions. Top by Δscore:

VariantEffectΔscore
17:19127683:G:GTdonor_gain1.0000
17:19127694:CAAGG:Cdonor_loss1.0000
17:19127696:AGG:Adonor_loss1.0000
17:19127697:GGTA:Gdonor_loss1.0000
17:19127698:GT:Gdonor_loss1.0000
17:19127699:T:Adonor_loss1.0000
17:19132637:CACA:Cacceptor_loss1.0000
17:19132638:ACAG:Aacceptor_loss1.0000
17:19132639:CA:Cacceptor_loss1.0000
17:19132640:A:AGacceptor_gain1.0000
17:19132641:G:GAacceptor_gain1.0000
17:19132641:G:Tacceptor_loss1.0000
17:19132641:GA:Gacceptor_gain1.0000
17:19132641:GATC:Gacceptor_gain1.0000
17:19132740:G:GGdonor_gain1.0000
17:19138549:A:Tdonor_gain1.0000
17:19138550:GA:Gdonor_gain1.0000
17:19138552:G:GGdonor_gain1.0000
17:19138568:G:GTdonor_gain1.0000
17:19138584:GTGAA:Gdonor_gain1.0000
17:19138586:G:GTdonor_gain1.0000
17:19138586:GAA:Gdonor_gain1.0000
17:19138589:G:GGdonor_gain1.0000
17:19127698:G:GGdonor_gain0.9900
17:19132633:T:Aacceptor_gain0.9900
17:19132636:CCACA:Cacceptor_loss0.9900
17:19132639:C:Gacceptor_gain0.9900
17:19132641:GAT:Gacceptor_gain0.9900
17:19132641:GATCC:Gacceptor_gain0.9900
17:19132736:ATCC:Adonor_gain0.9900

AlphaMissense

771 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:19132669:T:AW36R1.000
17:19132669:T:CW36R1.000
17:19127644:T:CF9L0.999
17:19127646:T:AF9L0.999
17:19127646:T:GF9L0.999
17:19132671:G:CW36C0.999
17:19132671:G:TW36C0.999
17:19132678:G:CA39P0.999
17:19132679:C:AA39D0.999
17:19132700:G:AG46E0.999
17:19132708:C:TP49S0.999
17:19132709:C:AP49H0.999
17:19127633:C:AA5D0.998
17:19127675:T:CF19S0.998
17:19127693:T:CL25P0.998
17:19132670:G:CW36S0.998
17:19132699:G:AG46R0.998
17:19132699:G:CG46R0.998
17:19132708:C:AP49T0.998
17:19138467:T:AW60R0.998
17:19138467:T:CW60R0.998
17:19138536:T:CF83L0.998
17:19138538:C:AF83L0.998
17:19138538:C:GF83L0.998
17:19127645:T:CF9S0.997
17:19127693:T:AL25H0.997
17:19132700:G:TG46V0.997
17:19132706:T:AI48N0.997
17:19132721:T:AI53N0.997
17:19138497:G:CA70P0.997

dbSNP variants (sampled 300 via entrez): RS1002170357 (17:19151667 C>G,T), RS1003178451 (17:19142185 G>T), RS1003289547 (17:19144023 T>C), RS1003969866 (17:19147468 C>T), RS1004086008 (17:19149160 T>C), RS1005018505 (17:19136833 C>T), RS1005542978 (17:19141613 C>G), RS1006137984 (17:19128810 G>A), RS1006436129 (17:19126556 G>A), RS1010594742 (17:19144081 G>A), RS1010959268 (17:19146359 T>C), RS1011546254 (17:19132960 T>C), RS1012016294 (17:19131963 G>T), RS1012442576 (17:19141874 C>G,T), RS1012803700 (17:19143376 G>C)

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
GCST002938_16Copper levels2.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

ChemicalActions (top 5)PubMed papers
jinfukangincreases expression1
Air Pollutantsincreases abundance, increases expression1
Urethanedecreases expression1
Particulate Matterincreases abundance, increases 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.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot