SOWAHC

gene
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Also known as FLJ21870

Summary

SOWAHC (sosondowah ankyrin repeat domain family member C, HGNC:26149) is a protein-coding gene on chromosome 2q13, encoding Ankyrin repeat domain-containing protein SOWAHC (Q53LP3).

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 1 total — 1 pathogenic
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_023016

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26149
Approved symbolSOWAHC
Namesosondowah ankyrin repeat domain family member C
Location2q13
Locus typegene with protein product
StatusApproved
AliasesFLJ21870
Ensembl geneENSG00000198142
Ensembl biotypeprotein_coding
Entrez65124

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000356454

RefSeq mRNA: 1 — MANE Select: NM_023016 NM_023016

CCDS: CCDS33270

Canonical transcript exons

ENST00000356454 — 1 exons

ExonStartEnd
ENSE00001417054109614364109618990

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 97.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9183 / max 165.0536, expressed in 1564 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
219257.43991548
219261.4784772

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
esophagus squamous epitheliumUBERON:000692097.45gold quality
upper leg skinUBERON:000426296.76gold quality
epithelium of esophagusUBERON:000197696.44gold quality
oral cavityUBERON:000016796.11gold quality
skin of hipUBERON:000155495.54gold quality
mucosa of sigmoid colonUBERON:000499394.92gold quality
squamous epitheliumUBERON:000691494.79gold quality
colonic mucosaUBERON:000031794.22gold quality
gingivaUBERON:000182894.09gold quality
mammalian vulvaUBERON:000099793.89gold quality
pharyngeal mucosaUBERON:000035593.42gold quality
penisUBERON:000098993.35gold quality
gingival epitheliumUBERON:000194993.08gold quality
amniotic fluidUBERON:000017393.07gold quality
cervix epitheliumUBERON:000480192.43gold quality
tongue squamous epitheliumUBERON:000691990.69gold quality
buccal mucosa cellCL:000233690.35gold quality
nippleUBERON:000203089.91gold quality
seminal vesicleUBERON:000099889.80gold quality
upper arm skinUBERON:000426389.48gold quality
esophagus mucosaUBERON:000246988.89gold quality
lower esophagus mucosaUBERON:003583488.36gold quality
lower lobe of lungUBERON:000894988.06gold quality
nephron tubuleUBERON:000123187.14gold quality
liverUBERON:000210787.10gold quality
mucosa of paranasal sinusUBERON:000503086.74gold quality
mucosa of urinary bladderUBERON:000125986.44gold quality
cervix squamous epitheliumUBERON:000692286.30gold quality
urinary bladderUBERON:000125585.88gold quality
tibiaUBERON:000097985.69gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes14.25
E-MTAB-6911no39.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

184 targeting SOWAHC, 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-190A-3P100.0080.355520
HSA-MIR-3163100.0077.238605
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-340-5P100.0072.504437
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-5692A100.0074.406850
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-150-5P99.9966.691976
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-428299.9975.366408
HSA-MIR-6759-5P99.9966.54785
HSA-MIR-477599.9875.006394
HSA-MIR-569699.9872.364487
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-103A-3P99.9869.141595
HSA-MIR-10799.9869.141595
HSA-MIR-6793-5P99.9765.95758
HSA-MIR-590-3P99.9674.346478
HSA-MIR-568899.9673.234504

Literature-anchored findings (GeneRIF, showing 1)

  • Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma. (PMID:32016477)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriosowahcbENSDARG00000059582
danio_reriosowahcaENSDARG00000098790
mus_musculusSowahcENSMUSG00000098188
rattus_norvegicusSowahcENSRNOG00000064749

Paralogs (3): SOWAHB (ENSG00000186212), SOWAHD (ENSG00000187808), SOWAHA (ENSG00000198944)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein SOWAHCQ53LP3 (reviewed: Q53LP3)

Alternative names: Ankyrin repeat domain-containing protein 57, Protein sosondowah homolog C

All UniProt accessions (1): Q53LP3

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the SOWAH family.

RefSeq proteins (1): NP_075392* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002110Ankyrin_rptRepeat
IPR036770Ankyrin_rpt-contain_sfHomologous_superfamily
IPR058889WHD_SOWAHA-CDomain

Pfam: PF12796, PF25877

UniProt features (17 total): compositionally biased region 5, modified residue 4, sequence conflict 3, repeat 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q53LP3-F161.220.23

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 (4): 88, 126, 213, 226

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-8980692RHOA GTPase cycle
R-HSA-9013026RHOB GTPase cycle
R-HSA-9035034RHOF GTPase cycle
R-HSA-162582Signal Transduction
R-HSA-194315Signaling by Rho GTPases
R-HSA-9012999RHO GTPase cycle
R-HSA-9716542Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 214 (showing top): MYOGENIN_Q6, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, JAEGER_METASTASIS_DN, NAGASHIMA_NRG1_SIGNALING_UP, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, AMIT_EGF_RESPONSE_120_HELA, KOYAMA_SEMA3B_TARGETS_UP, LANDIS_ERBB2_BREAST_PRENEOPLASTIC_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, LANDIS_ERBB2_BREAST_TUMORS_65_DN, BURTON_ADIPOGENESIS_10, CUI_TCF21_TARGETS_2_DN, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_24HR, RIZ_ERYTHROID_DIFFERENTIATION_APOBEC2, AMIT_SERUM_RESPONSE_120_MCF10A

GO Biological Process (0):

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

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
RHO GTPase cycle3
Signaling by Rho GTPases, Miro GTPases and RHOBTB31
Signaling by Rho GTPases1
Signal Transduction1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1

Protein interactions and networks

STRING

830 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SOWAHCSTAU1O95793511
SOWAHCZNF454Q8N9F8507
SOWAHCSLFN12Q8IYM2485
SOWAHCSERPINE1P05121484
SOWAHCOR10W1Q8NGF6476
SOWAHCACSL5Q9ULC5453
SOWAHCPFKPQ01813448
SOWAHCAKR1B1P15121441
SOWAHCPERPQ96FX8425
SOWAHCSLC19A1P41440423
SOWAHCLIPGQ9Y5X9419
SOWAHCLOXP28300418
SOWAHCENPEPQ07075414
SOWAHCOR7G3Q8NG95405
SOWAHCSPRING1Q9H741400

IntAct

16 interactions, top by confidence:

ABTypeScore
DCAF7DIAPH1psi-mi:“MI:0914”(association)0.730
RHODPLXNB2psi-mi:“MI:0914”(association)0.640
DCAF7PFDN6psi-mi:“MI:0914”(association)0.570
PCBD1SOWAHCpsi-mi:“MI:0915”(physical association)0.370
DIAPH1PABPN1psi-mi:“MI:0914”(association)0.350
Xpo1IFT56psi-mi:“MI:0914”(association)0.350
DCAF7DIAPH1psi-mi:“MI:0914”(association)0.350
CAPZBENAHpsi-mi:“MI:0914”(association)0.350
DIAPH1CSPG5psi-mi:“MI:0914”(association)0.350
PFN1WASLpsi-mi:“MI:0914”(association)0.350
DCAF7SOWAHBpsi-mi:“MI:0914”(association)0.350
ARHGEF10LSOWAHCpsi-mi:“MI:0914”(association)0.350

BioGRID (38): SOWAHC (Affinity Capture-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Two-hybrid), SOWAHC (Affinity Capture-MS), SOWAHC (Proximity Label-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Proximity Label-MS), SOWAHC (Proximity Label-MS), SOWAHC (Affinity Capture-MS), SOWAHC (Affinity Capture-MS)

ESM2 similar proteins: A0JNI1, E9Q0S6, O94983, O95402, P80192, Q08AE8, Q1JQA8, Q1LZH7, Q28DG6, Q3B7I8, Q3KPL3, Q3U1V8, Q4VAC9, Q53LP3, Q5BJT1, Q5DU25, Q5HZA4, Q5JU85, Q5M836, Q5PQ30, Q5RBI7, Q5REP3, Q5XG99, Q5ZKK0, Q69YU3, Q6DCC7, Q6DEF4, Q6IPM2, Q6IQA2, Q6P606, Q76G19, Q7TSI1, Q7Z3D4, Q80Y50, Q86UU1, Q8BL43, Q8BY98, Q8C0J6, Q8CC84, Q8IV50

Diamond homologs: A6NEL2, A6NJG2, Q2M3V2, Q53LP3, Q6NRK3, Q7XHR2, Q8BLS7, Q8BY98, Q8BZW2, Q8C0J6, Q9Z2F6, O90760

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance0
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1705945GRCh37/hg19 2q12.3-13(chr2:109157562-110497991)x1Pathogenic

SpliceAI

25 predictions. Top by Δscore:

VariantEffectΔscore
2:109618613:A:AGacceptor_gain0.5200
2:109618614:G:GGacceptor_gain0.5200
2:109614714:G:GGdonor_gain0.4200
2:109615323:C:Tdonor_gain0.4000
2:109618505:A:AGacceptor_gain0.4000
2:109618615:T:Gacceptor_gain0.4000
2:109614713:A:AGdonor_gain0.3700
2:109615556:TGGTG:Tdonor_gain0.3400
2:109615673:G:GTdonor_gain0.3400
2:109618506:A:Gacceptor_gain0.3300
2:109614788:C:Gdonor_gain0.3200
2:109615557:G:GAdonor_gain0.3200
2:109614787:A:AGdonor_gain0.3100
2:109615710:T:TAdonor_gain0.3000
2:109615711:A:AAdonor_gain0.3000
2:109615670:TGG:Tdonor_gain0.2700
2:109615671:GGG:Gdonor_gain0.2700
2:109615500:G:GTdonor_gain0.2600
2:109615631:ACCTG:Adonor_gain0.2600
2:109614717:C:Adonor_gain0.2400
2:109615697:A:Tdonor_gain0.2400
2:109615432:C:Tdonor_gain0.2300
2:109615602:GGAC:Gdonor_gain0.2200
2:109614786:G:Adonor_gain0.2100
2:109615373:TC:Tdonor_gain0.2100

AlphaMissense

3381 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:109615300:T:AW271R0.998
2:109615300:T:CW271R0.998
2:109615411:T:AW308R0.998
2:109615411:T:CW308R0.998
2:109615418:C:AA310D0.998
2:109615422:G:CK311N0.998
2:109615422:G:TK311N0.998
2:109615413:G:CW308C0.997
2:109615413:G:TW308C0.997
2:109615535:C:AA349D0.996
2:109615302:G:CW271C0.995
2:109615302:G:TW271C0.995
2:109615532:C:AA348E0.995
2:109615534:G:CA349P0.995
2:109615384:T:CF299L0.994
2:109615386:C:AF299L0.994
2:109615386:C:GF299L0.994
2:109615415:C:AA309D0.994
2:109615417:G:CA310P0.994
2:109615565:T:CL359P0.994
2:109615304:T:CM272T0.993
2:109615381:G:CD298H0.993
2:109615520:C:AA344D0.993
2:109615568:T:AL360Q0.993
2:109615568:T:CL360P0.993
2:109615603:G:CD372H0.993
2:109615604:A:TD372V0.993
2:109614656:T:CF56S0.992
2:109615327:T:AW280R0.992
2:109615327:T:CW280R0.992

dbSNP variants (sampled 300 via entrez): RS1000010484 (2:109619019 C>T), RS1000115271 (2:109612423 G>A,T), RS1000563086 (2:109613925 G>A,C,T), RS1000669196 (2:109615077 C>G,T), RS1001119460 (2:109618535 A>G), RS1001123865 (2:109614929 C>A,T), RS1001186383 (2:109615335 C>A,T), RS1001345774 (2:109613642 G>A), RS1001520481 (2:109613653 A>G), RS1001855954 (2:109613742 A>G), RS1002034456 (2:109616622 G>A,T), RS1002149041 (2:109613625 T>C), RS1002566503 (2:109617024 G>A), RS1002788181 (2:109616892 AACTT>A), RS1003127345 (2:109612900 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
GCST003048_108Schizophrenia5.000000e-08
GCST010396_79Gut microbiota (bacterial taxa, hurdle binary method)8.000000e-07
GCST010736_4Urinary albumin-to-creatinine ratio8.000000e-07

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0007874gut microbiome measurement
EFO:0007778urinary albumin to creatinine ratio

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

51 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, increases methylation6
Air Pollutantsaffects cotreatment, decreases expression, increases abundance, increases expression4
Acetaminophendecreases expression, increases expression3
Benzo(a)pyrenedecreases expression, increases expression2
Estradiolaffects cotreatment, increases expression2
Smokedecreases expression, increases abundance2
Aflatoxin B1decreases methylation, increases expression2
Palmitic Aciddecreases expression, increases phosphorylation2
Particulate Matterdecreases expression, increases abundance, increases expression2
aristolochic acid Idecreases expression1
methylmercuric chlorideincreases expression1
alpha-pineneaffects cotreatment, decreases expression, increases abundance1
2-methyl-4-isothiazolin-3-oneincreases expression1
trichostatin Aincreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
sodium arsenitedecreases expression1
potassium chromate(VI)affects cotreatment, increases expression1
cupric chlorideincreases expression1
methacrylaldehydeaffects cotreatment, decreases expression, increases abundance1
ciglitazoneincreases expression, affects binding1
epigallocatechin gallateincreases expression, affects cotreatment1
pentanalincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
14-deoxy-11,12-didehydroandrographolideincreases expression1
dorsomorphinaffects cotreatment, increases expression1
PCI 5002affects cotreatment, increases expression1
Temozolomidedecreases expression1
Pioglitazoneincreases expression1
Sunitinibincreases expression1
Zoledronic Aciddecreases 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.