SOWAHD

Summary

SOWAHD (sosondowah ankyrin repeat domain family member D, HGNC:32960) is a protein-coding gene on chromosome Xq24, encoding Ankyrin repeat domain-containing protein SOWAHD (A6NJG2).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_001105576

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32960
Approved symbol	SOWAHD
Name	sosondowah ankyrin repeat domain family member D
Location	Xq24
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187808
Ensembl biotype	protein_coding
Entrez	347454

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000343905

RefSeq mRNA: 1 — MANE Select: NM_001105576 NM_001105576

CCDS: CCDS43984

Canonical transcript exons

ENST00000343905 — 1 exons

Exon	Start	End
ENSE00001388439	119758588	119760202

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 80.65.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5792 / max 43.1011, expressed in 211 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197404	0.4458	158
197403	0.1334	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	80.65	gold quality
leukocyte	CL:0000738	79.20	gold quality
monocyte	CL:0000576	79.12	gold quality
blood	UBERON:0000178	77.84	gold quality
spleen	UBERON:0002106	73.92	gold quality
mucosa of transverse colon	UBERON:0004991	69.68	gold quality
placenta	UBERON:0001987	69.56	gold quality
lymph node	UBERON:0000029	67.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.08	gold quality
duodenum	UBERON:0002114	66.54	gold quality
bone marrow cell	CL:0002092	66.19	silver quality
bone marrow	UBERON:0002371	66.05	gold quality
small intestine Peyer’s patch	UBERON:0003454	64.32	gold quality
vermiform appendix	UBERON:0001154	64.05	gold quality
right testis	UBERON:0004534	63.85	gold quality
small intestine	UBERON:0002108	63.64	gold quality
left testis	UBERON:0004533	63.57	gold quality
testis	UBERON:0000473	63.26	gold quality
right lung	UBERON:0002167	59.20	gold quality
tonsil	UBERON:0002372	58.29	gold quality
transverse colon	UBERON:0001157	58.00	gold quality
upper lobe of left lung	UBERON:0008952	55.87	gold quality
body of stomach	UBERON:0001161	55.75	gold quality
right coronary artery	UBERON:0001625	54.71	gold quality
intestine	UBERON:0000160	53.86	gold quality
stomach	UBERON:0000945	53.72	gold quality
lung	UBERON:0002048	53.62	gold quality
fundus of stomach	UBERON:0001160	53.44	gold quality
right uterine tube	UBERON:0001302	53.27	gold quality
rectum	UBERON:0001052	52.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting SOWAHD, 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-1277-5P	100.00	73.95	5056
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-6509-3P	98.32	67.33	1343
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-4639-3P	97.54	67.12	787
HSA-MIR-4436B-5P	96.71	68.37	1346

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sowahd	ENSDARG00000087152
mus_musculus	Sowahd	ENSMUSG00000044400
rattus_norvegicus	Sowahd	ENSRNOG00000049392

Paralogs (3): SOWAHB (ENSG00000186212), SOWAHC (ENSG00000198142), SOWAHA (ENSG00000198944)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein SOWAHD — A6NJG2 (reviewed: A6NJG2)

Alternative names: Ankyrin repeat domain-containing protein 58, Protein sosondowah homolog D

All UniProt accessions (1): A6NJG2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the SOWAH family.

RefSeq proteins (1): NP_001099046* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF12796

UniProt features (6 total): repeat 3, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NJG2-F1	66.17	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_UP, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME2_AND_H3K27ME3, MARTENS_TRETINOIN_RESPONSE_UP, chrXq24, ZNF513_TARGET_GENES, MIR4436B_5P, DESCARTES_FETAL_CEREBRUM_MICROGLIA, DESCARTES_FETAL_HEART_MYELOID_CELLS, DESCARTES_FETAL_KIDNEY_MYELOID_CELLS, DESCARTES_FETAL_LUNG_MYELOID_CELLS, DESCARTES_FETAL_PANCREAS_MYELOID_CELLS, DESCARTES_FETAL_PLACENTA_EXTRAVILLOUS_TROPHOBLASTS, NFXL1_TARGET_GENES, MYOCD_TARGET_GENES

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

492 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOWAHD	ZBTB41	Q5SVQ8	580
SOWAHD	EIF3CL	B5ME19	518
SOWAHD	CAMSAP2	Q08AD1	379
SOWAHD	KCNT2	Q6UVM3	359
SOWAHD	OVGP1	Q12889	355
SOWAHD	FRY	Q5TBA9	324
SOWAHD	TMEM119	Q4V9L6	323
SOWAHD	SAMD10	Q9BYL1	323
SOWAHD	WDR38	Q5JTN6	309
SOWAHD	KNOP1	Q1ED39	305
SOWAHD	USP44	Q9H0E7	302
SOWAHD	ANKRD18A	Q8IVF6	300
SOWAHD	ANKRD36B	Q8N2N9	300
SOWAHD	FAM133B	Q5BKY9	294
SOWAHD	LTB4R2	Q9NPC1	290

IntAct

1 interactions, top by confidence:

A	B	Type	Score
lpqN	SOWAHD	psi-mi:“MI:0914”(association)	0.350

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, O90760

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

148 predictions. Top by Δscore:

Variant	Effect	Δscore
X:119759511:A:T	donor_gain	0.7100
X:119758778:T:TA	donor_gain	0.5400
X:119758779:A:AA	donor_gain	0.5400
X:119759245:TGGCG:T	acceptor_gain	0.5400
X:119759246:GGCGG:G	acceptor_gain	0.5400
X:119759272:TCATC:T	donor_gain	0.5200
X:119759481:G:GG	donor_gain	0.5100
X:119759480:A:AG	donor_gain	0.5000
X:119759601:TTCCA:T	acceptor_loss	0.4900
X:119759602:TCCAG:T	acceptor_loss	0.4900
X:119759603:CCA:C	acceptor_loss	0.4900
X:119759604:CA:C	acceptor_loss	0.4900
X:119759605:A:AT	acceptor_loss	0.4900
X:119759248:CGG:C	acceptor_gain	0.4800
X:119759562:GC:G	donor_gain	0.4800
X:119759369:G:GT	donor_gain	0.4700
X:119759560:TG:T	donor_gain	0.4600
X:119759561:GG:G	donor_gain	0.4600
X:119758787:C:T	donor_gain	0.4400
X:119759605:A:AG	acceptor_gain	0.4300
X:119759606:G:GG	acceptor_gain	0.4300
X:119759397:G:GT	donor_gain	0.4200
X:119759398:A:T	donor_gain	0.4200
X:119759606:GGACC:G	acceptor_gain	0.4200
X:119759373:T:TA	donor_gain	0.4100
X:119759587:ATCT:A	acceptor_loss	0.4100
X:119759600:A:AG	acceptor_gain	0.4100
X:119759402:G:GT	donor_gain	0.4000
X:119759510:G:GT	donor_gain	0.4000
X:119759541:G:GT	donor_gain	0.3900

AlphaMissense

1992 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:119759138:G:C	K157N	0.997
X:119759138:G:T	K157N	0.997
X:119759134:C:A	A156D	0.994
X:119759320:A:T	D218V	0.992
X:119759016:T:A	W117R	0.989
X:119759016:T:C	W117R	0.989
X:119759143:G:T	G159V	0.989
X:119759127:T:A	W154R	0.988
X:119759127:T:C	W154R	0.988
X:119759236:C:A	P190H	0.988
X:119759321:C:A	D218E	0.988
X:119759321:C:G	D218E	0.988
X:119759158:T:C	L164P	0.987
X:119759248:C:A	A194E	0.987
X:119759136:A:G	K157E	0.986
X:119759239:T:A	L191H	0.986
X:119759320:A:C	D218A	0.986
X:119759329:G:T	G221V	0.986
X:119759098:A:G	D144G	0.985
X:119759129:G:C	W154C	0.985
X:119759129:G:T	W154C	0.985
X:119759133:G:C	A156P	0.985
X:119759251:C:A	A195D	0.985
X:119759319:G:C	D218H	0.985
X:119759245:T:C	L193P	0.984
X:119759242:A:G	H192R	0.983
X:119759029:C:A	A121D	0.982
X:119759241:C:G	H192D	0.982
X:119759250:G:C	A195P	0.982
X:119759131:T:C	L155P	0.981

dbSNP variants (sampled 300 via entrez): RS1002114254 (X:119759240 C>T), RS1002710021 (X:119757511 T>C), RS1003288219 (X:119759595 C>A,T), RS1005787973 (X:119760017 A>C), RS1006004447 (X:119759736 C>G), RS1006340911 (X:119760220 T>C), RS1006562957 (X:119758023 T>A,C), RS1007204296 (X:119758311 C>T), RS1009588787 (X:119756942 C>A), RS1009643179 (X:119760498 G>C,T), RS1011059681 (X:119758763 G>T), RS1013308638 (X:119757399 C>T), RS1013841914 (X:119760325 C>T), RS1015260703 (X:119757677 A>G), RS1015434195 (X:119757534 C>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

2 associations (top):

Study	Trait	p-value
GCST90002385_594	High light scatter reticulocyte count	3.000000e-09
GCST90002386_506	High light scatter reticulocyte percentage of red cells	6.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	2
dicrotophos	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
nutlin 3	increases expression, affects cotreatment	1
licochalcone B	increases expression	1
bisphenol S	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Dactinomycin	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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