SOWAHB

Summary

SOWAHB (sosondowah ankyrin repeat domain family member B, HGNC:32958) is a protein-coding gene on chromosome 4q21.1, encoding Ankyrin repeat domain-containing protein SOWAHB (A6NEL2).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 112 total
• MANE Select transcript: NM_001029870

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32958
Approved symbol	SOWAHB
Name	sosondowah ankyrin repeat domain family member B
Location	4q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000186212
Ensembl biotype	protein_coding
Entrez	345079

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334306

RefSeq mRNA: 1 — MANE Select: NM_001029870 NM_001029870

CCDS: CCDS34017

Canonical transcript exons

ENST00000334306 — 1 exons

Exon	Start	End
ENSE00001331297	76894152	76898144

Expression profiles

Bgee: expression breadth ubiquitous, 108 present calls, max score 79.87.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4202 / max 9.3590, expressed in 247 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52668	0.2349	153
52667	0.1332	81
52666	0.0521	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	79.87	gold quality
liver	UBERON:0002107	79.82	gold quality
right lobe of liver	UBERON:0001114	79.45	gold quality
superior frontal gyrus	UBERON:0002661	78.86	gold quality
prefrontal cortex	UBERON:0000451	77.21	gold quality
rectum	UBERON:0001052	75.86	gold quality
esophagus mucosa	UBERON:0002469	75.11	gold quality
frontal cortex	UBERON:0001870	74.92	gold quality
duodenum	UBERON:0002114	74.73	gold quality
Brodmann (1909) area 9	UBERON:0013540	73.57	gold quality
islet of Langerhans	UBERON:0000006	73.42	gold quality
primary visual cortex	UBERON:0002436	73.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	73.04	gold quality
adult mammalian kidney	UBERON:0000082	73.00	gold quality
lower esophagus mucosa	UBERON:0035834	71.69	gold quality
right frontal lobe	UBERON:0002810	71.07	gold quality
cerebellar vermis	UBERON:0004720	70.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	70.21	gold quality
kidney	UBERON:0002113	69.67	gold quality
pancreas	UBERON:0001264	69.43	gold quality
cerebral cortex	UBERON:0000956	68.96	gold quality
cortical plate	UBERON:0005343	68.86	gold quality
body of pancreas	UBERON:0001150	67.43	gold quality
anterior cingulate cortex	UBERON:0009835	66.72	gold quality
transverse colon	UBERON:0001157	66.66	gold quality
cortex of kidney	UBERON:0001225	65.67	gold quality
quadriceps femoris	UBERON:0001377	64.14	gold quality
small intestine	UBERON:0002108	64.07	gold quality
saliva-secreting gland	UBERON:0001044	63.80	gold quality
tonsil	UBERON:0002372	63.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting SOWAHB, 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-3925-3P	100.00	69.95	1237
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-6073	99.60	70.36	793
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-29A-5P	99.08	68.59	1813
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-12125	98.59	67.54	1044
HSA-MIR-8078	98.32	65.73	361
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-1304-3P	98.29	66.44	1207
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-6791-3P	97.45	64.31	1123

Literature-anchored findings (GeneRIF, showing 1)

• Identification of a Set of Genes Improving Survival Prediction in Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of Transcriptomic Data. (PMID:33110456)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sowahb	ENSMUSG00000045314
rattus_norvegicus	Sowahb	ENSRNOG00000002202

Paralogs (3): SOWAHD (ENSG00000187808), SOWAHC (ENSG00000198142), SOWAHA (ENSG00000198944)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein SOWAHB — A6NEL2 (reviewed: A6NEL2)

Alternative names: Ankyrin repeat domain-containing protein 56, Protein sosondowah homolog B

All UniProt accessions (1): A6NEL2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the SOWAH family.

RefSeq proteins (1): NP_001025041* (*=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 (21 total): compositionally biased region 9, region of interest 4, modified residue 3, repeat 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NEL2-F1	55.67	0.18

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 (3): 106, 271, 761

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): chr4q21, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, FEVR_CTNNB1_TARGETS_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, HMG20B_TARGET_GENES, MIR181B_2_3P_MIR181B_3P, MIR4420, MIR6829_3P, MIR6791_3P, BLANCO_MELO_BRONCHIAL_EPITHELIAL_CELLS_INFLUENZA_A_DEL_NS1_INFECTION_UP, GSE14350_TREG_VS_TEFF_DN, DESCARTES_MAIN_FETAL_AFP_ALB_POSITIVE_CELLS, DESCARTES_FETAL_PANCREAS_DUCTAL_CELLS

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

1431 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOWAHB	LRFN1	Q9P244	533
SOWAHB	CDKL2	Q92772	446
SOWAHB	ASCL3	Q9NQ33	441
SOWAHB	C1orf210	Q8IVY1	420
SOWAHB	HMG20B	Q9P0W2	417
SOWAHB	ZNF738	Q8NE65	399
SOWAHB	CYSRT1	A8MQ03	398
SOWAHB	ZBED10P	Q96FA7	396
SOWAHB	WDR72	Q3MJ13	393
SOWAHB	PGCKA1	Q8IY42	371
SOWAHB	TMEM50A	O95807	370
SOWAHB	JCAD	Q9P266	370
SOWAHB	ENTREP2	O60320	366
SOWAHB	SLC66A2	Q8N2U9	365
SOWAHB	AP3M2	P53677	342

IntAct

7 interactions, top by confidence:

A	B	Type	Score
EMD	SOWAHB	psi-mi:“MI:0915”(physical association)	0.560
SOWAHB	EMD	psi-mi:“MI:0915”(physical association)	0.560
SOWAHB	DIAPH1	psi-mi:“MI:0914”(association)	0.350
DCAF7	SOWAHB	psi-mi:“MI:0914”(association)	0.350
GPC3	PXDNL	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): SOWAHB (Protein-RNA), SOWAHB (Two-hybrid), SOWAHB (Negative Genetic), PDZD11 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), DIAPH2 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), RAPGEF6 (Affinity Capture-MS), PLEKHA7 (Affinity Capture-MS), DIAPH1 (Affinity Capture-MS), SOWAHB (Affinity Capture-MS), SOWAHB (Affinity Capture-RNA)

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944

Diamond homologs: A6NEL2, A6NJG2, Q2M3V2, Q53LP3, Q6NRK3, Q7XHR2, Q8BLS7, Q8BY98, Q8BZW2, Q8C0J6, Q9Z2F6, O90760, A2AQH4, F1MJR8, G3I6Z6, O14974, O35516, P25631, P46531, Q01705, Q04721, Q07008, Q07E17, Q09YI3, Q09YJ5, Q09YN0, Q10728, Q1RJ94, Q1RJN6, Q2QL84, Q2QLA4, Q2QLC6, Q2QLH1, Q337A0, Q38898, Q54HW1, Q55FM5, Q5H9F3, Q5RCK5, Q61982

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	106
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

27 predictions. Top by Δscore:

Variant	Effect	Δscore
4:76897642:A:AC	donor_gain	0.7400
4:76897643:C:CC	donor_gain	0.7400
4:76897630:TGAGC:T	donor_gain	0.5400
4:76897644:T:C	donor_gain	0.4500
4:76897640:G:T	donor_gain	0.3800
4:76897624:T:TA	donor_gain	0.3100
4:76897152:T:TA	donor_gain	0.3000
4:76897615:C:A	donor_gain	0.3000
4:76897637:CACGT:C	donor_loss	0.2900
4:76897638:ACGTA:A	donor_loss	0.2900
4:76897639:CGT:C	donor_loss	0.2900
4:76897640:G:GC	donor_loss	0.2900
4:76897641:TA:T	donor_loss	0.2900
4:76897642:A:AT	donor_loss	0.2900
4:76897643:C:CA	donor_loss	0.2900
4:76897636:CCACG:C	donor_loss	0.2800
4:76897635:ACCAC:A	donor_loss	0.2600
4:76896752:C:T	acceptor_gain	0.2500
4:76896575:A:AT	donor_gain	0.2200
4:76897627:TCTTG:T	donor_gain	0.2200
4:76896761:A:T	acceptor_gain	0.2100
4:76897629:TTGAG:T	donor_gain	0.2100
4:76896752:C:CT	acceptor_gain	0.2000
4:76896955:GGGTC:G	acceptor_gain	0.2000
4:76896956:GGTCG:G	acceptor_gain	0.2000
4:76897610:AAGGT:A	donor_gain	0.2000
4:76897643:CT:C	donor_gain	0.2000

AlphaMissense

5088 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:76897686:A:T	V55D	0.999
4:76897698:A:G	F51S	0.999
4:76896052:A:G	W600R	0.998
4:76896052:A:T	W600R	0.998
4:76897632:A:T	L73H	0.998
4:76897677:A:T	V58D	0.997
4:76897694:C:A	K52N	0.997
4:76897694:C:G	K52N	0.997
4:76897760:G:C	F30L	0.997
4:76897760:G:T	F30L	0.997
4:76897761:A:G	F30S	0.997
4:76897762:A:G	F30L	0.997
4:76897638:A:T	V71E	0.996
4:76897674:G:T	A59D	0.996
4:76897773:A:G	L26S	0.996
4:76895934:G:T	A639D	0.995
4:76897675:C:G	A59P	0.995
4:76897681:A:G	S57P	0.995
4:76895930:T:A	K640N	0.994
4:76895930:T:G	K640N	0.994
4:76895941:A:G	W637R	0.994
4:76895941:A:T	W637R	0.994
4:76897811:A:C	F13L	0.994
4:76897811:A:T	F13L	0.994
4:76897813:A:G	F13L	0.994
4:76897697:G:C	F51L	0.993
4:76897697:G:T	F51L	0.993
4:76897699:A:G	F51L	0.993
4:76897751:A:C	F33L	0.993
4:76897751:A:T	F33L	0.993

dbSNP variants (sampled 300 via entrez): RS1001196946 (4:76898398 C>G,T), RS1001341710 (4:76900026 A>C), RS10017708 (4:76899996 C>T), RS1002990785 (4:76897186 C>T), RS1003294124 (4:76896127 A>C,T), RS1003350593 (4:76897389 C>T), RS1003675809 (4:76896046 C>T), RS1004437356 (4:76896846 A>C), RS1004990130 (4:76895240 T>C), RS1005075020 (4:76894736 G>A,T), RS1005167571 (4:76899441 C>T), RS1005313444 (4:76896402 T>C), RS1006032740 (4:76894465 T>C), RS1007012431 (4:76899222 A>G), RS1009854236 (4:76897419 G>A)

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

2 associations (top):

Study	Trait	p-value
GCST003761_6	Emphysema distribution in smoking	2.000000e-08
GCST009391_1261	Metabolite levels	7.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005850	emphysema pattern measurement
EFO:0004761	uric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation, increases mutagenesis	3
ethyl-p-hydroxybenzoate	increases expression	1
abrine	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Palmitic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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