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ALG1L2

gene
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Summary

ALG1L2 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2, HGNC:37258) is a protein-coding gene on chromosome 3q22.1, encoding Putative glycosyltransferase ALG1L2 (C9J202). Putative glycosyltransferase.

Predicted to enable mannosyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be active in endoplasmic reticulum.

Source: NCBI Gene 644974 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 69 total
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_001136152

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:37258
Approved symbolALG1L2
NameALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2
Location3q22.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000251287
Ensembl biotypeprotein_coding
Entrez644974

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000425059, ENST00000507643, ENST00000511726, ENST00000698236, ENST00000698237

RefSeq mRNA: 1 — MANE Select: NM_001136152 NM_001136152

Canonical transcript exons

ENST00000425059 — 8 exons

ExonStartEnd
ENSE00003500311130092101130092222
ENSE00003542544130097175130097250
ENSE00003572582130093101130093160
ENSE00003593225130091261130091371
ENSE00003603220130094403130094513
ENSE00003674014130096049130096163
ENSE00003692179130098223130098390
ENSE00003694531130081831130082036

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 77.93.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047377.93gold quality
calcaneal tendonUBERON:000370174.74gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099174.09gold quality
endometriumUBERON:000129571.67gold quality
corpus callosumUBERON:000233671.66gold quality
sural nerveUBERON:001548871.48gold quality
adrenal tissueUBERON:001830369.18gold quality
left ovaryUBERON:000211969.17gold quality
ovaryUBERON:000099268.77gold quality
primary visual cortexUBERON:000243667.97gold quality
body of uterusUBERON:000985367.11gold quality
right ovaryUBERON:000211866.92gold quality
adenohypophysisUBERON:000219666.89gold quality
pituitary glandUBERON:000000766.83gold quality
superior frontal gyrusUBERON:000266166.76gold quality
nucleus accumbensUBERON:000188265.86gold quality
putamenUBERON:000187465.14gold quality
myometriumUBERON:000129664.70gold quality
right frontal lobeUBERON:000281064.67gold quality
C1 segment of cervical spinal cordUBERON:000646964.55gold quality
caudate nucleusUBERON:000187364.53gold quality
monocyteCL:000057664.41gold quality
smooth muscle tissueUBERON:000113564.37gold quality
fallopian tubeUBERON:000388964.26gold quality
left uterine tubeUBERON:000130364.25gold quality
Brodmann (1909) area 9UBERON:001354064.10gold quality
uterine cervixUBERON:000000263.96gold quality
dorsolateral prefrontal cortexUBERON:000983463.82gold quality
ectocervixUBERON:001224963.65gold quality
mucosa of stomachUBERON:000119963.50gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no1.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

3 targeting ALG1L2, 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-426799.9666.532368
HSA-MIR-6870-3P98.0865.10692
HSA-MIR-22-5P97.6768.921355

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioalg1ENSDARG00000054963
mus_musculusAlg1ENSMUSG00000039427
rattus_norvegicusAlg1ENSRNOG00000002883
drosophila_melanogasterAlg1FBGN0038552
caenorhabditis_elegansWBGENE00020820

Paralogs (1): ALG1 (ENSG00000033011)

Protein

Protein identifiers

Putative glycosyltransferase ALG1L2 — C9J202 (reviewed: C9J202)

All UniProt accessions (3): A0A8V8TLI2, A0A8V8TNA5, C9J202

UniProt curated annotations — full annotation on UniProt →

Function. Putative glycosyltransferase.

Similarity. Belongs to the glycosyltransferase group 1 family.

RefSeq proteins (1): NP_001129624* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001296Glyco_trans_1Domain
IPR026051ALG1-likeFamily

Pfam: PF00534

UniProt features (3 total): chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-C9J202-F177.320.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, chr3q22, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_MANNOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOBP_GLYCOPROTEIN_BIOSYNTHETIC_PROCESS, DCA_UP.V1_UP, KRAS.600.LUNG.BREAST_UP.V1_DN, KRAS.BREAST_UP.V1_DN, MANNE_COVID19_ICU_VS_HEALTHY_DONOR_PLATELETS_DN, MANNE_COVID19_COMBINED_COHORT_VS_HEALTHY_DONOR_PLATELETS_DN, NKX2_5_TARGET_GENES

GO Biological Process (1): obsolete protein glycosylation (GO:0006486)

GO Molecular Function (3): mannosyltransferase activity (GO:0000030), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
hexosyltransferase activity1
catalytic activity1
transferase activity1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cellular anatomical structure1

Protein interactions and networks

STRING

1176 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ALG1L2ZNF676Q8N7Q3576
ALG1L2TIGD6Q17RP2470
ALG1L2FAM72CH0Y354420
ALG1L2ATP6AP1LQ52LC2418
ALG1L2A0A096LPI6A0A096LPI6417
ALG1L2MEIS3Q99687416
ALG1L2LCE1EQ5T753403
ALG1L2GPATCH4Q5T3I0398
ALG1L2CABLES2Q9BTV7394
ALG1L2TECP42680382
ALG1L2LCE1DQ5T752380
ALG1L2NCKAP5O14513373
ALG1L2CD96P40200368
ALG1L2PRR23CQ6ZRP0367
ALG1L2AK1P00568366

IntAct

0 interactions, top by confidence:

BioGRID (3): ALG1L2 (Negative Genetic), ALG1L2 (Negative Genetic), ALG1L2 (Negative Genetic)

ESM2 similar proteins: A1A4Y4, A2ARV4, A4QPB2, C9J202, D4A3T6, E1BPQ3, E9Q4J9, E9Q6I0, G3V928, O35502, P01131, P01132, P01133, P07522, P08922, P08941, P0C6S1, P0C7X4, P35950, P35951, P35952, P86971, P98157, P98158, P98163, P98164, Q00968, Q07954, Q0E2Q3, Q28832, Q49744, Q5BG51, Q5R6R1, Q5T1H1, Q6IE37, Q6TAC4, Q6X0I2, Q7Z5M8, Q8BG22, Q91ZX7

Diamond homologs: C9J202, D4AZD1, O13933, P16661, P90522, Q59Q79, Q5R7A2, Q6BS98, Q6C3K2, Q6CVU2, Q6FLZ2, Q75BA5, Q8L7M0, Q921Q3, Q9BT22

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance52
Likely benign8
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1665 predictions. Top by Δscore:

VariantEffectΔscore
3:130091255:TTGCA:Tacceptor_loss1.0000
3:130091256:TGCA:Tacceptor_loss1.0000
3:130091257:GCA:Gacceptor_loss1.0000
3:130091258:CA:Cacceptor_loss1.0000
3:130091259:A:AGacceptor_gain1.0000
3:130091259:AG:Aacceptor_gain1.0000
3:130091259:AGG:Aacceptor_gain1.0000
3:130091260:G:GGacceptor_gain1.0000
3:130091260:GG:Gacceptor_gain1.0000
3:130091260:GGG:Gacceptor_gain1.0000
3:130091260:GGGCT:Gacceptor_gain1.0000
3:130091340:C:Gdonor_gain1.0000
3:130091367:GCCCG:Gdonor_gain1.0000
3:130091368:CCCGG:Cdonor_loss1.0000
3:130091370:CGGT:Cdonor_loss1.0000
3:130091371:GGTA:Gdonor_loss1.0000
3:130091372:G:GCdonor_loss1.0000
3:130091372:G:GGdonor_gain1.0000
3:130091373:T:Adonor_loss1.0000
3:130092099:A:AGacceptor_gain1.0000
3:130092100:G:GCacceptor_gain1.0000
3:130092100:GC:Gacceptor_gain1.0000
3:130092100:GCTC:Gacceptor_gain1.0000
3:130092100:GCTCA:Gacceptor_gain1.0000
3:130092218:GACAG:Gdonor_loss1.0000
3:130092220:CAG:Cdonor_loss1.0000
3:130092221:AG:Adonor_loss1.0000
3:130093093:A:AGacceptor_gain1.0000
3:130093099:A:AGacceptor_gain1.0000
3:130093100:G:GGacceptor_gain1.0000

AlphaMissense

1394 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:130092138:T:CF57L0.926
3:130092140:C:AF57L0.926
3:130092140:C:GF57L0.926
3:130097215:T:CF194L0.888
3:130097217:T:AF194L0.888
3:130097217:T:GF194L0.888
3:130091361:T:CF41L0.816
3:130091363:C:AF41L0.816
3:130091363:C:GF41L0.816
3:130096156:T:CF178L0.792
3:130096158:C:AF178L0.792
3:130096158:C:GF178L0.792
3:130092139:T:CF57S0.753
3:130091331:T:CF31L0.752
3:130091333:C:AF31L0.752
3:130091333:C:GF31L0.752
3:130092204:A:CS79R0.743
3:130092206:C:AS79R0.743
3:130092206:C:GS79R0.743
3:130096123:T:CF167L0.735
3:130096125:C:AF167L0.735
3:130096125:C:GF167L0.735
3:130098238:T:CF211L0.726
3:130098240:T:AF211L0.726
3:130098240:T:GF211L0.726
3:130091295:T:CF19L0.688
3:130091297:T:AF19L0.688
3:130091297:T:GF19L0.688
3:130093103:T:CF86L0.679
3:130093105:T:AF86L0.679

dbSNP variants (sampled 300 via entrez): RS1000024571 (3:130087995 G>A), RS1000115011 (3:130055310 G>A), RS1000313710 (3:130087561 T>A), RS1001201878 (3:130088312 T>C), RS1001243731 (3:130056575 C>A,G,T), RS1001664178 (3:130055549 T>G), RS1002179964 (3:130096639 C>A), RS1002616741 (3:130097498 A>C,G), RS1002814546 (3:130089375 C>T), RS1002847030 (3:130089627 G>T), RS1003174175 (3:130090592 G>A), RS1003439152 (3:130043666 T>C), RS1003448328 (3:130064370 A>G), RS1003470234 (3:130043957 T>A,C,G), RS1003670885 (3:130072514 T>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (1): autism (MONDO:0005260)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0000717Autism

GWAS associations

3 associations (top):

StudyTraitp-value
GCST005956_82Waist-to-hip ratio adjusted for BMI2.000000e-07
GCST005958_5Waist-to-hip ratio adjusted for BMI (age >50)4.000000e-10
GCST005962_16Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)2.000000e-11

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0008007age at assessment
EFO:0008343sex interaction measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D001321Autistic DisorderF03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

ChemicalActions (top 5)PubMed papers
aristolochic acid Iincreases expression1
sodium arseniteaffects cotreatment, increases abundance, increases expression1
manganese chlorideincreases expression, affects cotreatment, increases abundance1
2-palmitoylglycerolincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Arsenicincreases expression, affects cotreatment, increases abundance1
Copperdecreases expression, affects cotreatment1
Manganeseaffects cotreatment, increases abundance, increases expression1
Tretinoindecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00211796PHASE4COMPLETEDDivalproex Sodium ER in Adult Autism
NCT00391261PHASE4COMPLETEDAn Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747PHASE4COMPLETEDMinocycline to Treat Childhood Regressive Autism
NCT00576732PHASE4COMPLETEDA Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753PHASE4COMPLETEDAtomoxetine, Placebo and Parent Management Training in Autism
NCT01028820PHASE4COMPLETEDFMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383PHASE4UNKNOWNTreatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865PHASE4COMPLETEDA Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700PHASE4COMPLETEDMilnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200PHASE4COMPLETEDOmega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977PHASE4UNKNOWNStudy to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952PHASE4COMPLETEDMethylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925PHASE4UNKNOWNAn Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467PHASE4COMPLETEDMultisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565PHASE4COMPLETEDDose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574PHASE4COMPLETEDNeural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629PHASE4COMPLETEDPromoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646PHASE4COMPLETEDEvaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431PHASE4COMPLETEDImproving Driving in Young People With Autism Spectrum Disorders
NCT03757585PHASE4COMPLETEDNatural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353PHASE4COMPLETEDPragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656PHASE4COMPLETEDBiomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245PHASE4UNKNOWNSafety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339PHASE4RECRUITINGAWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052PHASE4TERMINATEDA Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665PHASE4RECRUITINGThe TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697PHASE4COMPLETEDPilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804PHASE4COMPLETEDPilot RCT Using Homeopathic Medicines in ASD
NCT07439042PHASE4NOT_YET_RECRUITINGBuspirone for Anxiety in Autistic Youth
NCT00036231PHASE3TERMINATEDSynthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244PHASE3COMPLETEDSynthetic Human Secretin in Children With Autism
NCT00065884PHASE3UNKNOWNValproate Response in Aggressive Autistic Adolescents
NCT00065962PHASE3COMPLETEDSecretin for the Treatment of Autism
NCT00252603PHASE3COMPLETEDGalantamine Versus Placebo in Childhood Autism
NCT00346736PHASE3COMPLETEDUse of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248PHASE3COMPLETEDRandomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352PHASE3COMPLETEDUse of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329PHASE3COMPLETEDRandomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173PHASE3COMPLETEDEffectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346PHASE3COMPLETEDA Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms

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
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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