GOLGA6L24

Summary

GOLGA6L24 (golgin A6 family like 24, HGNC:55710) is a protein-coding gene on chromosome 15q13.1, encoding Golgin subfamily A member 6-like protein 24 (P0DX00).

At a glance

• Clinical variants (ClinVar): 3 total — 1 pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001394758

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55710
Approved symbol	GOLGA6L24
Name	golgin A6 family like 24
Location	15q13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000237850
Ensembl biotype	protein_coding
Entrez	645202

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000568624

RefSeq mRNA: 1 — MANE Select: NM_001394758 NM_001394758

CCDS: CCDS91967

Canonical transcript exons

ENST00000568624 — 9 exons

Exon	Start	End
ENSE00001797189	28347851	28349594
ENSE00002610721	28350251	28352011
ENSE00003508587	28356093	28356221
ENSE00003514931	28354956	28355006
ENSE00003521185	28357868	28358084
ENSE00003628248	28352664	28352805
ENSE00003654144	28354572	28354678
ENSE00003666452	28354774	28354867
ENSE00003688111	28353136	28353194

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 84.70.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	84.70	gold quality
right testis	UBERON:0004534	84.34	gold quality
testis	UBERON:0000473	83.59	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.87	gold quality
superior frontal gyrus	UBERON:0002661	44.50	gold quality
cortical plate	UBERON:0005343	43.46	gold quality
prefrontal cortex	UBERON:0000451	40.77	gold quality
frontal cortex	UBERON:0001870	38.69	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	38.54	silver quality
bone marrow cell	CL:0002092	38.48	gold quality
granulocyte	CL:0000094	38.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	37.98	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
duodenum	UBERON:0002114	36.90	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cerebral cortex	UBERON:0000956	36.39	silver quality
bone marrow	UBERON:0002371	36.33	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.03	gold quality
right frontal lobe	UBERON:0002810	34.69	silver quality
muscle tissue	UBERON:0002385	34.53	gold quality
mucosa of stomach	UBERON:0001199	34.35	gold quality
mucosa of transverse colon	UBERON:0004991	34.05	gold quality
anterior cingulate cortex	UBERON:0009835	33.27	gold quality
primary visual cortex	UBERON:0002436	33.22	gold quality
liver	UBERON:0002107	32.56	gold quality
leukocyte	CL:0000738	32.09	gold quality
monocyte	CL:0000576	31.86	gold quality
blood	UBERON:0000178	31.82	silver quality
right uterine tube	UBERON:0001302	31.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (10): GOLGA6L2 (ENSG00000174450), GOLGA6L4 (ENSG00000184206), GOLGA6L9 (ENSG00000197978), GOLGA6L25 (ENSG00000227717), GOLGA6L7 (ENSG00000261649), GOLGA6L26 (ENSG00000273756), GOLGA6L1 (ENSG00000273976), GOLGA6L6 (ENSG00000277322), GOLGA6L22 (ENSG00000277865), GOLGA6L10 (ENSG00000278662)

Protein

Protein identifiers

Golgin subfamily A member 6-like protein 24 — P0DX00 (reviewed: P0DX00)

All UniProt accessions (2): A0A8I5KYG4, P0DX00

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA6 family.

RefSeq proteins (1): NP_001381687* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026737	GOLGA6L	Family

UniProt features (14 total): compositionally biased region 7, region of interest 5, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DX00-F1	71.36	0.15

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr15q13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A0A1B0GV03, A6NEF3, A6NEM1, A6NI86, A8MZA4, B4DH59, D3YVF0, F6QRE9, H0YKK7, H0YM25, P0C6Y7, P0C7A2, P0DX00, P0DX01, P0DX02, P14590, P21263, P22793, P24587, P24710, P48997, P48998, Q07283, Q0II65, Q0P6D6, Q13342, Q3BBV2, Q4R9C9, Q5W0A0, Q6AXX0, Q6NSX1, Q6P5H2, Q6P902, Q86T75, Q8CHD8, Q8N2N9, Q8N660, Q8N7Z2

Diamond homologs: A0A1B0GV03, A1IH00, A6NC78, A6NCC3, A6NDK9, A6NDN3, A6NEF3, A6NEM1, A6NI86, A6NN73, A7E2F4, A8MQT2, A8MZA4, F8WBI6, H0YKK7, H0YM25, H3BPF8, H3BSY2, H3BV12, I6L899, P0CG33, P0CJ92, P0DX00, P0DX01, P0DX02, P0DX52, P0DX53, Q08379, Q62839, Q8N7Z2, Q8N9W4, Q921M4, Q9NYA3, A6NMD2, D6RF30, H3BQL2, Q0D2H9, Q9HBQ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
545173	Single allele	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

5725 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1002579596 (15:28359493 G>A), RS1002638038 (15:28347671 G>A,C), RS1011292908 (15:28355849 A>G), RS1012469479 (15:28347598 G>C), RS1012523525 (15:28354022 C>T), RS1021430227 (15:28358577 C>G), RS1022641254 (15:28347609 G>A,T), RS1027275276 (15:28347533 C>A), RS1031461922 (15:28354650 C>A,T), RS1031824955 (15:28347694 C>G), RS1037139913 (15:28348904 G>A), RS1037495427 (15:28347417 A>G), RS1046655950 (15:28354551 C>G,T), RS1046705733 (15:28359455 T>A,C), RS1048452226 (15:28359210 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):

HPO	Term
HP:0000717	Autism

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00036231	PHASE3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	PHASE3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	PHASE3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	PHASE3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	PHASE3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	PHASE3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329	PHASE3	COMPLETED	Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173	PHASE3	COMPLETED	Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346	PHASE3	COMPLETED	A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms