SOWAHA

Summary

SOWAHA (sosondowah ankyrin repeat domain family member A, HGNC:27033) is a protein-coding gene on chromosome 5q31.1, encoding Ankyrin repeat domain-containing protein SOWAHA (Q2M3V2).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 90 total
• MANE Select transcript: NM_175873

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27033
Approved symbol	SOWAHA
Name	sosondowah ankyrin repeat domain family member A
Location	5q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198944
Ensembl biotype	protein_coding
Entrez	134548

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000378693

RefSeq mRNA: 1 — MANE Select: NM_175873 NM_175873

CCDS: CCDS43361

Canonical transcript exons

ENST00000378693 — 1 exons

Exon	Start	End
ENSE00001478429	132813302	132816786

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 97.97.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.4510 / max 260.5714, expressed in 158 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58499	1.6196	106
58498	0.4730	119
58497	0.1740	85
58501	0.0911	46
58504	0.0328	11
58502	0.0309	14
58500	0.0174	8
58503	0.0121	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	97.97	gold quality
jejunal mucosa	UBERON:0000399	97.47	gold quality
ileal mucosa	UBERON:0000331	97.39	gold quality
nucleus accumbens	UBERON:0001882	96.89	gold quality
putamen	UBERON:0001874	96.41	gold quality
caudate nucleus	UBERON:0001873	96.07	gold quality
middle temporal gyrus	UBERON:0002771	95.85	gold quality
entorhinal cortex	UBERON:0002728	95.06	gold quality
amygdala	UBERON:0001876	95.02	gold quality
temporal lobe	UBERON:0001871	94.87	gold quality
lateral globus pallidus	UBERON:0002476	94.67	gold quality
Ammon’s horn	UBERON:0001954	93.40	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.34	gold quality
anterior cingulate cortex	UBERON:0009835	92.24	gold quality
duodenum	UBERON:0002114	92.18	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.74	gold quality
superior frontal gyrus	UBERON:0002661	91.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.11	gold quality
right frontal lobe	UBERON:0002810	90.90	gold quality
primary visual cortex	UBERON:0002436	90.82	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.79	gold quality
cerebral cortex	UBERON:0000956	89.91	gold quality
epithelial cell of pancreas	CL:0000083	89.90	silver quality
frontal cortex	UBERON:0001870	89.74	gold quality
postcentral gyrus	UBERON:0002581	89.65	gold quality
neocortex	UBERON:0001950	88.99	gold quality
occipital lobe	UBERON:0002021	88.77	gold quality
prefrontal cortex	UBERON:0000451	88.76	gold quality
parietal lobe	UBERON:0001872	88.65	gold quality
forebrain	UBERON:0001890	88.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

119 targeting SOWAHA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sowahaa	ENSDARG00000077861
danio_rerio	sowahab	ENSDARG00000079125
mus_musculus	Sowaha	ENSMUSG00000044352
rattus_norvegicus	Sowaha	ENSRNOG00000065856

Paralogs (3): SOWAHB (ENSG00000186212), SOWAHD (ENSG00000187808), SOWAHC (ENSG00000198142)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein SOWAHA — Q2M3V2 (reviewed: Q2M3V2)

Alternative names: Ankyrin repeat domain-containing protein 43, Protein sosondowah homolog A

All UniProt accessions (1): Q2M3V2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the SOWAH family.

RefSeq proteins (1): NP_787069* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR058889	WHD_SOWAHA-C	Domain

Pfam: PF12796, PF25877

UniProt features (12 total): region of interest 3, sequence variant 2, repeat 2, compositionally biased region 2, signal peptide 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2M3V2-F1	62.72	0.30

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): 260

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): BENPORATH_ES_WITH_H3K27ME3, GCANCTGNY_MYOD_Q6, IVANOVA_HEMATOPOIESIS_MATURE_CELL, CAGCTG_AP4_Q5, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, RYTTCCTG_ETS2_B, CTGYNNCTYTAA_UNKNOWN, CCCNNGGGAR_OLF1_01, ACEVEDO_LIVER_CANCER_UP, LEIN_LOCALIZED_TO_DISTAL_AND_PROXIMAL_DENDRITES, chr5q31, RFX1_01, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1076 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOWAHA	PIERCE1	Q5BN46	549
SOWAHA	RPP14	O95059	530
SOWAHA	ENTREP1	Q15884	525
SOWAHA	DNASE2B	Q8WZ79	487
SOWAHA	KRT80	Q6KB66	458
SOWAHA	RHOF	Q9HBH0	452
SOWAHA	PABIR3	Q6P4D5	447
SOWAHA	SHROOM1	Q2M3G4	447
SOWAHA	VSTM2L	Q96N03	445
SOWAHA	DOCK5	Q9H7D0	437
SOWAHA	CCNI2	Q6ZMN8	420
SOWAHA	CFAP45	Q9UL16	419
SOWAHA	GNS	P15586	387
SOWAHA	GLRA3	O75311	369
SOWAHA	ANKRD16	Q6P6B7	349

IntAct

31 interactions, top by confidence:

A	B	Type	Score
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
DCAF7	PFDN6	psi-mi:“MI:0914”(association)	0.570
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
INSR	UBXN8	psi-mi:“MI:0914”(association)	0.350
INSR	ATOX1	psi-mi:“MI:0914”(association)	0.350
SOWAHA	POM121C	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	LSM1	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	HELZ	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	ERF	psi-mi:“MI:0915”(physical association)	0.000
CTBP1	SOWAHA	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	PCGF3	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	PAN2	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	C15orf39	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	PCGF5	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	CREBBP	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	POM121	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	RNF2	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	ARID3A	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	ECSIT	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	KIAA1671	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	EBF3	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	FBRS	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	EIF4ENIF1	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	NUP50	psi-mi:“MI:0915”(physical association)	0.000
SOWAHA	NISCH	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A2R8YCJ5, A2A699, A2AEV7, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NL88, A8MVW0, A9JSM3, B2RU40, B8ZZ34, C9JH25, D4A9R4, J3QNX5, P0CG09, P98077, Q0VD38, Q14761, Q17QH7, Q29RK8, Q2KJ18, Q2M3V2, Q3SX20, Q5BJT1, Q5HZJ5, Q5RKR3, Q5T442, Q64697, Q69YZ2, Q6PB97, Q6PCT2, Q6UXK2, Q6ZMQ8, Q6ZVH7, Q6ZW31, Q80XF7, Q8BLS7

Diamond homologs: A6NEL2, A6NJG2, Q2M3V2, Q53LP3, Q6NRK3, Q7XHR2, Q8BLS7, Q8BY98, Q8BZW2, Q8C0J6, Q9Z2F6, G0LXV8, L7XCU0, L7XDS4, P0DJE3, P23631, P25963, P50086, Q02989, Q08353, Q4JHE0, Q4R3S3, Q810B6, Q811D2, Q92527, Q96KQ7, Q9J4Z4, Q9P2R3, Q9Z148, A2ARS0, A2AS55, A6NCL7, C9JTQ0, F1M5M3, F1MJR8, O15084, Q337A0, Q3SX00, Q3U0L2, Q495B1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

14 predictions. Top by Δscore:

Variant	Effect	Δscore
5:132813861:G:GT	donor_gain	0.8400
5:132813822:G:GA	donor_gain	0.3400
5:132813821:T:TA	donor_gain	0.3100
5:132813842:TC:T	donor_gain	0.2500
5:132813853:GTGC:G	donor_gain	0.2400
5:132813854:TGCT:T	donor_gain	0.2400
5:132813855:GCTG:G	donor_gain	0.2400
5:132813862:A:T	donor_gain	0.2400
5:132813864:G:GT	donor_gain	0.2400
5:132813856:C:CG	donor_gain	0.2200
5:132813845:A:AG	donor_gain	0.2100
5:132813846:G:GG	donor_gain	0.2100
5:132813824:TG:T	donor_gain	0.2000
5:132813861:G:T	donor_gain	0.2000

AlphaMissense

3438 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:132813806:T:A	V62D	0.998
5:132814561:T:A	W314R	0.998
5:132814561:T:C	W314R	0.998
5:132813794:T:C	F58S	0.997
5:132814563:G:C	W314C	0.997
5:132814563:G:T	W314C	0.997
5:132814660:T:C	F347L	0.996
5:132814662:C:A	F347L	0.996
5:132814662:C:G	F347L	0.996
5:132814677:G:C	W352C	0.996
5:132814677:G:T	W352C	0.996
5:132813818:C:A	A66E	0.995
5:132814648:T:C	F343L	0.995
5:132814650:C:A	F343L	0.995
5:132814650:C:G	F343L	0.995
5:132814675:T:A	W352R	0.995
5:132814675:T:C	W352R	0.995
5:132814682:C:A	A354D	0.995
5:132813736:T:C	F39L	0.994
5:132813738:C:A	F39L	0.994
5:132813738:C:G	F39L	0.994
5:132814588:T:A	W323R	0.994
5:132814588:T:C	W323R	0.994
5:132814590:G:C	W323C	0.994
5:132814590:G:T	W323C	0.994
5:132814667:C:A	A349D	0.994
5:132814868:A:T	D416V	0.994
5:132815033:T:A	I471N	0.994
5:132815033:T:C	I471T	0.994
5:132813737:T:C	F39S	0.993

dbSNP variants (sampled 300 via entrez): RS1000198572 (5:132814118 C>T), RS1000535965 (5:132815842 T>G), RS1000588315 (5:132815485 T>G), RS1001190677 (5:132812306 C>T), RS1001241595 (5:132812653 A>T), RS1002289729 (5:132811440 A>G), RS1002915018 (5:132813732 C>T), RS1003088053 (5:132812196 A>G), RS1003273589 (5:132813416 C>A,T), RS1003476521 (5:132813258 G>A), RS1003832975 (5:132813843 C>T), RS1004539209 (5:132814609 C>T), RS1004993416 (5:132814860 C>T), RS10051188 (5:132816165 A>T), RS1005489845 (5:132816642 A>T)

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

5 associations (top):

Study	Trait	p-value
GCST003590_3	Apolipoprotein A-IV levels	2.000000e-06
GCST005790_52	Rosacea symptom severity	1.000000e-06
GCST008839_409	Height	5.000000e-11
GCST008916_34	Asthma	2.000000e-09
GCST90020024_918	A body shape index	7.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007848	apolipoprotein A-IV measurement
EFO:0009180	rosacea severity measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	5
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	3
Aflatoxin B1	affects expression, decreases expression	3
Resveratrol	decreases expression, affects cotreatment	2
Caffeine	decreases phosphorylation, increases expression	2
Cyclosporine	decreases expression	2
bisphenol A	decreases expression	1
3,4-dichloroaniline	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Acetaminophen	decreases expression	1
Allergens	decreases expression	1
Calcitriol	increases expression	1
Copper	affects cotreatment, decreases expression	1
Diuron	decreases expression	1
Estradiol	decreases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Urethane	decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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