ANKRD33

Summary

ANKRD33 (ankyrin repeat domain 33, HGNC:13788) is a protein-coding gene on chromosome 12q13.13, encoding Photoreceptor ankyrin repeat protein (Q7Z3H0). Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation.

Predicted to act upstream of or within skeletal muscle cell differentiation. Predicted to be located in cytosol and nucleus.

Source: NCBI Gene 341405 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_182608

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13788
Approved symbol	ANKRD33
Name	ankyrin repeat domain 33
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686O1689, PANKY
Ensembl gene	ENSG00000167612
Ensembl biotype	protein_coding
OMIM	620857
Entrez	341405

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 retained_intron, 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000301190, ENST00000340970, ENST00000547119, ENST00000548383, ENST00000548526, ENST00000549316, ENST00000549751, ENST00000550652

RefSeq mRNA: 4 — MANE Select: NM_182608 NM_001130015, NM_001304459, NM_001304460, NM_182608

CCDS: CCDS44892, CCDS8815

Canonical transcript exons

ENST00000301190 — 5 exons

Exon	Start	End
ENSE00001336918	51889067	51889196
ENSE00001370519	51890584	51891727
ENSE00002336983	51888103	51888331
ENSE00003465191	51889372	51889482
ENSE00003518743	51888568	51888818

Expression profiles

Bgee: expression breadth broad, 59 present calls, max score 79.87.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3800 / max 52.9404, expressed in 83 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125521	0.2933	68
125525	0.0316	8
125523	0.0212	12
125522	0.0194	11
125524	0.0146	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.87	gold quality
placenta	UBERON:0001987	72.42	gold quality
epithelial cell of pancreas	CL:0000083	64.64	gold quality
kidney epithelium	UBERON:0004819	64.55	gold quality
pigmented layer of retina	UBERON:0001782	64.20	gold quality
retina	UBERON:0000966	64.19	gold quality
pancreatic ductal cell	CL:0002079	63.81	silver quality
upper arm skin	UBERON:0004263	63.60	gold quality
buccal mucosa cell	CL:0002336	62.49	silver quality
neuron projection bundle connecting eye with brain	UBERON:0004904	62.49	silver quality
tibialis anterior	UBERON:0001385	61.34	silver quality
epithelium of nasopharynx	UBERON:0001951	57.39	gold quality
mucosa of paranasal sinus	UBERON:0005030	56.65	gold quality
ileal mucosa	UBERON:0000331	56.62	silver quality
nasal cavity epithelium	UBERON:0005384	55.28	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.96	gold quality
deltoid	UBERON:0001476	54.77	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
quadriceps femoris	UBERON:0001377	52.37	gold quality
epithelium of mammary gland	UBERON:0003244	52.17	gold quality
mammary duct	UBERON:0001765	51.99	gold quality
vastus lateralis	UBERON:0001379	51.09	gold quality
myocardium	UBERON:0002349	50.51	gold quality
bone marrow cell	CL:0002092	47.18	gold quality
eye	UBERON:0000970	46.83	silver quality
skin of hip	UBERON:0001554	44.79	silver quality
stromal cell of endometrium	CL:0002255	43.99	gold quality
muscle tissue	UBERON:0002385	43.99	gold quality
skeletal muscle tissue	UBERON:0001134	43.96	gold quality
oocyte	CL:0000023	43.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting ANKRD33, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-3146	98.85	66.77	601
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-5691	98.23	67.02	1335
HSA-MIR-6805-3P	98.23	67.02	1334
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-643	97.35	67.91	805
HSA-MIR-6777-3P	95.35	64.30	699

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd33ab	ENSDARG00000002508
danio_rerio	ankrd33aa	ENSDARG00000055638
mus_musculus	Ankrd33	ENSMUSG00000047034
rattus_norvegicus	Ankrd33	ENSRNOG00000049733

Paralogs (4): FEM1A (ENSG00000141965), FEM1C (ENSG00000145780), ANKRD33B (ENSG00000164236), FEM1B (ENSG00000169018)

Protein

Protein identifiers

Photoreceptor ankyrin repeat protein — Q7Z3H0 (reviewed: Q7Z3H0)

Alternative names: Ankyrin repeat domain-containing protein 33

All UniProt accessions (2): Q7Z3H0, F8VTQ6

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z3H0-2	2	yes
Q7Z3H0-1	1

RefSeq proteins (4): NP_001123487, NP_001291388, NP_001291389, NP_872414* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF12796

UniProt features (18 total): repeat 4, sequence variant 4, splice variant 3, sequence conflict 2, region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z3H0-F1	60.72	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_CELL_DIFFERENTIATION, GSE13522_WT_VS_IFNG_KO_SKIN_DN, MARTENS_TRETINOIN_RESPONSE_UP, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_36HR, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, MTOR_UP.V1_UP, CRX_DN.V1_UP, HMGA1_TARGET_GENES, MIR361_5P, GSE14769_UNSTIM_VS_360MIN_LPS_BMDM_DN, GSE15324_ELF4_KO_VS_WT_NAIVE_CD8_TCELL_DN

GO Biological Process (1): skeletal muscle cell differentiation (GO:0035914)

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

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
skeletal muscle tissue development	1
cell differentiation	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1346 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD33	FIGNL2	A6NMB9	477
ANKRD33	SAMD7	Q7Z3H4	349
ANKRD33	GART	P22102	348
ANKRD33	ARSG	Q96EG1	315
ANKRD33	CCDC68	Q9H2F9	311
ANKRD33	SLC16A12	Q6ZSM3	303
ANKRD33	CRX	O43186	291
ANKRD33	TMEM70	Q9BUB7	288
ANKRD33	SLC29A1	Q99808	284
ANKRD33	VPREB3	Q9UKI3	276
ANKRD33	OBSL1	O75147	273
ANKRD33	ANKS1B	Q7Z6G8	264
ANKRD33	H2AC6	Q93077	260
ANKRD33	AIPL1	Q9NZN9	259
ANKRD33	ANK1	P16157	252

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ANKRD33	ALDH1A2	psi-mi:“MI:0915”(physical association)	0.400
ANKRD33	SRC	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): ANKRD33 (Two-hybrid), ANKRD33 (Two-hybrid), ANKRD33 (Two-hybrid), ANKRD33 (Two-hybrid), ANKRD33 (Two-hybrid), ANKRD33 (Two-hybrid), ANKRD33 (Two-hybrid), BFSP2 (Two-hybrid), UBQLN2 (Two-hybrid), TRIM59 (Two-hybrid), GPSM3 (Two-hybrid), SRC (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), ALDH1A2 (Affinity Capture-MS), ANKRD33 (Affinity Capture-MS)

ESM2 similar proteins: A1L3T7, D4A929, O15049, O94812, P0C7N4, P58660, P97680, Q17Q97, Q1LU99, Q3LUD3, Q3UPH7, Q3UYR4, Q400C9, Q4FZU8, Q562E7, Q571B6, Q58EX7, Q5EB20, Q5JYT7, Q5ND29, Q5ND34, Q5PQS0, Q5XIS1, Q68FE6, Q6PGG2, Q6ZQ12, Q6ZVH7, Q7TNF8, Q7TSI1, Q7Z3H0, Q80U16, Q8BWG4, Q8BXP5, Q8BYG0, Q8C7U1, Q8CB62, Q8CE13, Q8K1S6, Q8K330, Q8N137

Diamond homologs: A6NCL7, A6NHS1, P0C965, Q02979, Q3C1V9, Q3U0L2, Q61982, Q6KAE5, Q7Z3H0, Q8BXP5, Q9FY48, Q9R172, Q9UM47, Q9Z1P7, A2AS55, A6QR20, P0C966, Q76U48, Q7M6U3, Q8C0T1, Q94CT7, Q502K3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

928 predictions. Top by Δscore:

Variant	Effect	Δscore
12:51888359:G:GG	donor_gain	1.0000
12:51888817:GG:G	donor_gain	1.0000
12:51888818:GG:G	donor_gain	1.0000
12:51889370:A:AG	acceptor_gain	1.0000
12:51889371:G:GA	acceptor_gain	1.0000
12:51889480:GCT:G	donor_gain	1.0000
12:51889483:G:GG	donor_gain	1.0000
12:51888332:G:GG	donor_gain	0.9900
12:51888564:TTA:T	acceptor_loss	0.9900
12:51888565:TAGAT:T	acceptor_loss	0.9900
12:51888566:A:AG	acceptor_gain	0.9900
12:51888567:G:A	acceptor_loss	0.9900
12:51888567:G:GG	acceptor_gain	0.9900
12:51888621:G:GT	donor_gain	0.9900
12:51888684:G:GT	donor_gain	0.9900
12:51888789:G:GT	donor_gain	0.9900
12:51888814:GGAGG:G	donor_gain	0.9900
12:51888815:GAGG:G	donor_gain	0.9900
12:51888815:GAGGG:G	donor_gain	0.9900
12:51889367:TGCA:T	acceptor_loss	0.9900
12:51889368:GCA:G	acceptor_loss	0.9900
12:51889369:CA:C	acceptor_loss	0.9900
12:51889370:A:AC	acceptor_loss	0.9900
12:51889370:AG:A	acceptor_gain	0.9900
12:51889371:GG:G	acceptor_gain	0.9900
12:51889371:GGC:G	acceptor_gain	0.9900
12:51889371:GGCC:G	acceptor_gain	0.9900
12:51889371:GGCCA:G	acceptor_gain	0.9900
12:51889487:G:GG	donor_gain	0.9900
12:51890578:TCCCA:T	acceptor_loss	0.9900

AlphaMissense

2904 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:51889097:T:C	F143L	0.966
12:51889099:C:A	F143L	0.966
12:51889099:C:G	F143L	0.966
12:51890895:A:C	S317R	0.965
12:51890897:T:A	S317R	0.965
12:51890897:T:G	S317R	0.965
12:51889463:G:C	K206N	0.964
12:51889463:G:T	K206N	0.964
12:51889083:C:A	A138E	0.963
12:51890637:G:C	A231P	0.962
12:51889087:C:G	C139W	0.961
12:51890634:T:A	W230R	0.956
12:51890634:T:C	W230R	0.956
12:51889071:G:A	G134D	0.950
12:51889435:A:T	D197V	0.949
12:51889185:C:A	A172D	0.947
12:51890636:G:C	W230C	0.947
12:51890636:G:T	W230C	0.947
12:51889086:G:A	C139Y	0.945
12:51889173:C:A	A168D	0.945
12:51889085:T:C	C139R	0.943
12:51889434:G:C	D197H	0.943
12:51889435:A:C	D197A	0.941
12:51889176:T:A	L169H	0.937
12:51889436:C:A	D197E	0.935
12:51889436:C:G	D197E	0.935
12:51889453:C:A	A203E	0.934
12:51888806:C:A	D128E	0.932
12:51888806:C:G	D128E	0.932
12:51888818:G:C	R132S	0.932

dbSNP variants (sampled 300 via entrez): RS1000360520 (12:51888853 C>T), RS1000699138 (12:51887605 G>A), RS1001367417 (12:51889958 C>A), RS1001375659 (12:51891980 A>G), RS1001462321 (12:51889658 C>G,T), RS1001883777 (12:51887030 T>C), RS1003799045 (12:51890864 C>T), RS1005268368 (12:51886182 A>C), RS1005370510 (12:51891841 C>T), RS1007514713 (12:51887929 A>C,G), RS1008173956 (12:51890365 A>G), RS1008273135 (12:51886257 G>T), RS1008515413 (12:51889180 G>T), RS1008610256 (12:51888939 G>A), RS1009060533 (12:51887620 A>T)

Disease associations

OMIM: gene MIM:620857 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000885_5	Response to antipsychotic treatment in schizophrenia (reasoning)	9.000000e-07
GCST006402_1	Energy intake	1.000000e-09
GCST007733_22	Serum uric acid levels	2.000000e-07
GCST007733_71	Serum uric acid levels	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004350	reasoning
EFO:0009374	energy intake 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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
abrine	increases expression	1
bisphenol S	decreases expression	1
Resveratrol	affects cotreatment, decreases expression, increases expression	1
Temozolomide	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Plant Extracts	decreases expression, increases expression, affects cotreatment	1
Triclosan	increases expression	1
Valproic Acid	increases methylation, increases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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