ANKRD34B

Summary

ANKRD34B (ankyrin repeat domain 34B, HGNC:33736) is a protein-coding gene on chromosome 5q14.1, encoding Ankyrin repeat domain-containing protein 34B (A5PLL1).

Predicted to be located in cytoplasm and nucleus. Predicted to be active in pi-body.

Source: NCBI Gene 340120 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 71 total — 1 pathogenic
• MANE Select transcript: NM_001004441

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33736
Approved symbol	ANKRD34B
Name	ankyrin repeat domain 34B
Location	5q14.1
Locus type	gene with protein product
Status	Approved
Aliases	DP58
Ensembl gene	ENSG00000189127
Ensembl biotype	protein_coding
OMIM	618581
Entrez	340120

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 19 protein_coding

ENST00000338682, ENST00000508916, ENST00000852599, ENST00000852600, ENST00000852601, ENST00000852602, ENST00000914945, ENST00000914946, ENST00000914947, ENST00000914948, ENST00000914949, ENST00000914950, ENST00000914951, ENST00000914952, ENST00000914953, ENST00000914954, ENST00000914955, ENST00000955760, ENST00000955761

RefSeq mRNA: 1 — MANE Select: NM_001004441 NM_001004441

CCDS: CCDS34194

Canonical transcript exons

ENST00000338682 — 5 exons

Exon	Start	End
ENSE00001391158	80556755	80560042
ENSE00001484259	80563735	80563815
ENSE00001484261	80566689	80566774
ENSE00001484263	80568960	80569107
ENSE00002084478	80570154	80570280

Expression profiles

Bgee: expression breadth broad, 63 present calls, max score 82.08.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5347 / max 54.1122, expressed in 206 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62303	0.5347	206

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nucleus accumbens	UBERON:0001882	82.08	gold quality
putamen	UBERON:0001874	80.00	gold quality
caudate nucleus	UBERON:0001873	79.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.71	silver quality
monocyte	CL:0000576	71.89	gold quality
leukocyte	CL:0000738	71.18	gold quality
hypothalamus	UBERON:0001898	66.24	gold quality
blood	UBERON:0000178	62.53	gold quality
bone marrow	UBERON:0002371	60.53	gold quality
metanephros cortex	UBERON:0010533	59.30	gold quality
bone marrow cell	CL:0002092	57.99	silver quality
substantia nigra	UBERON:0002038	57.68	gold quality
lymph node	UBERON:0000029	56.29	gold quality
prefrontal cortex	UBERON:0000451	55.64	gold quality
granulocyte	CL:0000094	54.07	gold quality
brain	UBERON:0000955	53.55	gold quality
superior frontal gyrus	UBERON:0002661	52.78	gold quality
cortical plate	UBERON:0005343	52.40	gold quality
vermiform appendix	UBERON:0001154	52.31	gold quality
adult mammalian kidney	UBERON:0000082	52.20	gold quality
anterior cingulate cortex	UBERON:0009835	52.04	gold quality
spleen	UBERON:0002106	51.05	gold quality
tonsil	UBERON:0002372	50.22	gold quality
Brodmann (1909) area 9	UBERON:0013540	50.09	gold quality
frontal cortex	UBERON:0001870	49.94	gold quality
cerebral cortex	UBERON:0000956	49.29	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	48.73	gold quality
kidney	UBERON:0002113	48.57	gold quality
primary visual cortex	UBERON:0002436	48.45	gold quality
temporal lobe	UBERON:0001871	48.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.92

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

93 targeting ANKRD34B, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-944	99.82	70.85	3042

Literature-anchored findings (GeneRIF, showing 1)

• Age-Related DNA Methylation in Normal Kidney Tissue Identifies Epigenetic Cancer Risk Susceptibility Loci in the ANKRD34B and ZIC1 Genes. (PMID:35628134)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd34bb	ENSDARG00000061641
danio_rerio	ankrd34ba	ENSDARG00000077086
mus_musculus	Ankrd34b	ENSMUSG00000045034
rattus_norvegicus	Ankrd34b	ENSRNOG00000040166

Paralogs (1): ANKRD34A (ENSG00000272031)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 34B — A5PLL1 (reviewed: A5PLL1)

All UniProt accessions (2): A5PLL1, D6RH12

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Nucleus.

Post-translational modifications. Phosphorylated.

Similarity. Belongs to the ANKRD34 family.

RefSeq proteins (1): NP_001004441* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR042637	AN34A/B/C	Family

Pfam: PF12796, PF13637

UniProt features (11 total): repeat 4, modified residue 3, chain 1, sequence conflict 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A5PLL1-F1	55.21	0.20

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): 263, 272, 296

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): ATGTACA_MIR493, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_POLE_PLASM, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, GOCC_PI_BODY, GOCC_SUPRAMOLECULAR_COMPLEX, RYBP_TARGET_GENES, MIR4659A_3P_MIR4659B_3P, MIR374A_5P, MIR5692B_MIR5692C, MIR4531, MIR374B_5P, MIR6844, MIR5003_3P, MIR2115_3P

GO Biological Process (0):

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

GO Cellular Component (3): nucleus (GO:0005634), pi-body (GO:0071546), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular membrane-bounded organelle	1
P granule	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

532 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD34B	FAM151B	Q6UXP7	508
ANKRD34B	RMDN2	Q96LZ7	410
ANKRD34B	TFDP3	Q5H9I0	370
ANKRD34B	NWD2	Q9ULI1	364
ANKRD34B	FAM110B	Q8TC76	355
ANKRD34B	ZNF473	Q8WTR7	348
ANKRD34B	MYNN	Q9NPC7	339
ANKRD34B	LRATD2	Q96KN1	326
ANKRD34B	NEK5	Q6P3R8	317
ANKRD34B	CORO2B	Q9UQ03	310
ANKRD34B	KCNG3	Q8TAE7	310
ANKRD34B	TSNARE1	Q96NA8	309
ANKRD34B	NBPF1	Q3BBV0	305
ANKRD34B	GABRQ	Q9UN88	305
ANKRD34B	TTLL6	Q8N841	302

IntAct

3 interactions, top by confidence:

A	B	Type	Score
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): ANKRD34B (Reconstituted Complex), ANKRD34B (Affinity Capture-RNA), ANKRD34B (Affinity Capture-MS), ANKRD34B (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5NVS8, A0AVK6, A2A891, A5GFT6, A5PLL1, A5X7A0, A7XYH5, A7XYJ6, B7ZS37, D3ZGB1, D4A4D7, D4A666, E1B7L7, E1BE02, E1BKK0, E1BLP6, E7F888, F1LMN3, F1QZ88, F6YVB9, F7EA39, O35914, O54916, P0C6C1, Q01804, Q14B70, Q3U1C4, Q3UUF8, Q566I1, Q58FA4, Q5RIX9, Q5ZJ69, Q68FE9, Q69ZF8, Q6A098, Q6S7F2, Q6ZSZ6, Q6ZU65, Q76L83, Q80WC1

Diamond homologs: A5PLL1, P0C6C1, Q3UUF8, Q5BJT1, Q5PQ89, Q69YU3, Q8BLB8, A2ARS0, C9JTQ0, Q5UPG6

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	1
Likely pathogenic	0
Uncertain significance	64
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	Pathogenic

SpliceAI

770 predictions. Top by Δscore:

Variant	Effect	Δscore
5:80568962:AGT:A	donor_gain	1.0000
5:80560042:CCTGG:C	acceptor_loss	0.9900
5:80560043:C:CA	acceptor_loss	0.9900
5:80560044:T:A	acceptor_loss	0.9900
5:80566775:C:CC	acceptor_gain	0.9900
5:80560040:TAC:T	acceptor_gain	0.9800
5:80560051:C:CT	acceptor_gain	0.9800
5:80570150:TGA:T	donor_loss	0.9800
5:80570151:GACC:G	donor_loss	0.9800
5:80570152:AC:A	donor_loss	0.9800
5:80560052:A:T	acceptor_gain	0.9700
5:80560056:A:C	acceptor_gain	0.9700
5:80568284:T:TA	donor_gain	0.9700
5:80566683:ACTT:A	donor_loss	0.9600
5:80566684:CTTA:C	donor_loss	0.9600
5:80566685:TTACC:T	donor_loss	0.9600
5:80566686:TA:T	donor_loss	0.9600
5:80566688:CCTGA:C	donor_loss	0.9600
5:80569547:T:TA	donor_gain	0.9600
5:80570147:CA:C	donor_gain	0.9600
5:80566682:AACTT:A	donor_loss	0.9500
5:80566772:CTA:C	acceptor_gain	0.9500
5:80568962:A:AC	donor_gain	0.9400
5:80568964:T:TA	donor_gain	0.9400
5:80560039:ATAC:A	acceptor_gain	0.9300
5:80560056:A:AC	acceptor_gain	0.9300
5:80570186:TTCAA:T	donor_gain	0.9300
5:80560043:C:CC	acceptor_gain	0.9200
5:80560047:T:C	acceptor_gain	0.9200
5:80566768:GTTCC:G	acceptor_loss	0.9200

AlphaMissense

3373 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:80559811:A:G	L70P	0.999
5:80559934:A:G	L29S	0.999
5:80559937:A:G	L28P	0.999
5:80559760:G:T	A87D	0.998
5:80559796:G:T	A75D	0.998
5:80559871:G:T	A50D	0.998
5:80559946:A:G	L25P	0.998
5:80559967:A:T	V18D	0.998
5:80559811:A:T	L70Q	0.997
5:80559867:A:C	C51W	0.997
5:80559869:A:G	C51R	0.997
5:80559880:A:G	L47S	0.997
5:80559883:G:T	P46H	0.997
5:80559931:A:G	L30P	0.997
5:80559955:C:G	R22P	0.997
5:80559709:A:G	L104P	0.996
5:80559748:G:T	A91D	0.996
5:80559749:C:G	A91P	0.996
5:80559934:A:C	L29W	0.996
5:80559646:G:T	A125D	0.995
5:80559709:A:T	L104H	0.995
5:80559744:G:C	C92W	0.995
5:80559746:A:G	C92R	0.995
5:80559778:T:A	D81V	0.995
5:80559779:C:G	D81H	0.995
5:80559868:C:T	C51Y	0.995
5:80559872:C:G	A50P	0.995
5:80559883:G:C	P46R	0.995
5:80559892:C:A	G43V	0.995
5:80559909:A:C	N37K	0.995

dbSNP variants (sampled 300 via entrez): RS1000029159 (5:80568293 C>A,T), RS1000089828 (5:80565024 G>A,C), RS1000093866 (5:80562004 A>G), RS1000097416 (5:80570534 CCGCTTCGGCCACCG>C), RS1000339345 (5:80570085 T>C), RS1000634760 (5:80566904 T>C,G), RS1000689005 (5:80566328 T>C), RS1001169677 (5:80566554 G>A), RS1001194058 (5:80561288 C>A,G,T), RS1001506431 (5:80565787 G>A,C), RS1002042190 (5:80565410 A>C), RS1002095136 (5:80558629 T>C,G), RS1002097732 (5:80567708 C>T), RS1002198240 (5:80562782 A>C,G), RS1002314364 (5:80563084 T>C)

Disease associations

OMIM: gene MIM:618581 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010426_3	Systolic blood pressure x educational attainment (some college) interaction (2df)	4.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment
EFO:0006335	systolic blood pressure

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
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Lipopolysaccharides	increases expression, affects response to substance	1

Clinical trials (associated diseases)

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