ANKRD34C

Summary

ANKRD34C (ankyrin repeat domain 34C, HGNC:33888) is a protein-coding gene on chromosome 15q25.1, encoding Ankyrin repeat domain-containing protein 34C (P0C6C1).

Predicted to be active in pi-body.

Source: NCBI Gene 390616 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_001146341

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33888
Approved symbol	ANKRD34C
Name	ankyrin repeat domain 34C
Location	15q25.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000235711
Ensembl biotype	protein_coding
Entrez	390616

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000421388

RefSeq mRNA: 1 — MANE Select: NM_001146341 NM_001146341

CCDS: CCDS53965

Canonical transcript exons

ENST00000421388 — 2 exons

Exon	Start	End
ENSE00001790339	79293241	79298239
ENSE00003919720	79282722	79283228

Expression profiles

Bgee: expression breadth broad, 85 present calls, max score 82.20.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9801 / max 163.1920, expressed in 92 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147942	0.7624	87
147941	0.2177	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.20	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.85	gold quality
lateral nuclear group of thalamus	UBERON:0002736	76.55	gold quality
endothelial cell	CL:0000115	76.19	silver quality
primary visual cortex	UBERON:0002436	75.69	gold quality
middle temporal gyrus	UBERON:0002771	74.28	silver quality
buccal mucosa cell	CL:0002336	73.21	silver quality
Brodmann (1909) area 46	UBERON:0006483	71.46	silver quality
occipital lobe	UBERON:0002021	71.03	gold quality
Brodmann (1909) area 10	UBERON:0013541	68.77	silver quality
islet of Langerhans	UBERON:0000006	68.34	gold quality
prefrontal cortex	UBERON:0000451	68.33	gold quality
cerebellum	UBERON:0002037	66.77	gold quality
cerebellar cortex	UBERON:0002129	66.75	gold quality
cerebellar hemisphere	UBERON:0002245	66.65	gold quality
hypothalamus	UBERON:0001898	66.21	gold quality
cerebellar vermis	UBERON:0004720	65.77	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	65.66	gold quality
superior frontal gyrus	UBERON:0002661	65.17	gold quality
frontal cortex	UBERON:0001870	64.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	64.63	gold quality
Brodmann (1909) area 9	UBERON:0013540	63.83	gold quality
neocortex	UBERON:0001950	63.42	gold quality
postcentral gyrus	UBERON:0002581	61.98	gold quality
cerebral cortex	UBERON:0000956	61.94	gold quality
pons	UBERON:0000988	61.50	gold quality
right frontal lobe	UBERON:0002810	60.42	gold quality
parietal lobe	UBERON:0001872	60.18	silver quality
secondary oocyte	CL:0000655	60.04	silver quality
cingulate cortex	UBERON:0003027	59.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

112 targeting ANKRD34C, 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-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-12124	99.68	69.17	2700

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd34c	ENSMUSG00000047606
rattus_norvegicus	Ankrd34c	ENSRNOG00000013937

Paralogs (1): ASZ1 (ENSG00000154438)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 34C — P0C6C1 (reviewed: P0C6C1)

All UniProt accessions (1): P0C6C1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ANKRD34 family.

RefSeq proteins (1): NP_001139813* (*=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

UniProt features (14 total): repeat 4, sequence variant 3, region of interest 3, modified residue 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C6C1-F1	54.66	0.15

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 (2): 447, 301

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_POLE_PLASM, GOCC_PI_BODY, GOCC_SUPRAMOLECULAR_COMPLEX, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ATF2_UP.V1_UP, PTEN_DN.V1_DN, KRAS.600_UP.V1_UP, KRAS.PROSTATE_UP.V1_UP, MIR8485, MIR1277_5P, MIR4729, MIR6835_3P, MIR6875_3P, MIR6508_5P

GO Biological Process (0):

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

GO Cellular Component (1): pi-body (GO:0071546)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
P granule	1

Protein interactions and networks

STRING

1220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD34C	RASGRF1	Q13972	532
ANKRD34C	CTSH	P09668	449
ANKRD34C	CASD1	Q96PB1	445
ANKRD34C	CHRAC1	Q9NRG0	435
ANKRD34C	BEGAIN	Q9BUH8	434
ANKRD34C	COPG2	Q9UBF2	413
ANKRD34C	SNX14	Q9Y5W7	410
ANKRD34C	ASB4	Q9Y574	410
ANKRD34C	B3GNT2	Q9NY97	404
ANKRD34C	BLCAP	P62952	404
ANKRD34C	NHLRC1	Q6VVB1	402
ANKRD34C	HERC3	Q15034	401
ANKRD34C	H0Y8G9	H0Y8G9	401
ANKRD34C	RALYL	Q86SE5	400
ANKRD34C	NAP1L5	Q96NT1	399

IntAct

0 interactions, top by confidence:

BioGRID (37): ANKRD34C (Affinity Capture-MS), ATP5C1 (Co-fractionation), C20orf24 (Co-fractionation), COX7C (Co-fractionation), HADHA (Co-fractionation), HADHB (Co-fractionation), MINOS1 (Co-fractionation), MTCH2 (Co-fractionation), NDUFA9 (Co-fractionation), NDUFS1 (Co-fractionation), NDUFV1 (Co-fractionation), NIPSNAP1 (Co-fractionation), PDHB (Co-fractionation), PHB (Co-fractionation), PHB2 (Co-fractionation)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

117 predictions. Top by Δscore:

Variant	Effect	Δscore
15:79294126:TCATC:T	donor_gain	0.9700
15:79294144:A:AG	donor_gain	0.9600
15:79298081:T:A	acceptor_gain	0.9500
15:79294353:G:GA	donor_gain	0.9200
15:79294141:G:GG	donor_gain	0.8700
15:79294140:A:AG	donor_gain	0.8600
15:79293529:A:G	donor_gain	0.8400
15:79293733:T:G	donor_gain	0.8300
15:79293732:A:AG	donor_gain	0.8200
15:79294234:TTCTG:T	donor_gain	0.8200
15:79293722:G:T	donor_gain	0.8100
15:79294272:A:T	donor_gain	0.7900
15:79293726:G:GT	donor_gain	0.7300
15:79294690:A:G	donor_gain	0.7200
15:79294127:C:A	donor_gain	0.7100
15:79298081:TGGTG:T	acceptor_gain	0.7000
15:79294293:C:A	donor_gain	0.6800
15:79294807:G:GT	donor_gain	0.6800
15:79294349:ATGT:A	donor_gain	0.6700
15:79294352:T:A	donor_gain	0.6600
15:79294623:T:A	donor_gain	0.6600
15:79293987:A:T	donor_gain	0.6200
15:79294348:AATGT:A	donor_gain	0.6200
15:79294128:A:AG	donor_gain	0.6000
15:79294320:A:T	donor_gain	0.5700
15:79294711:A:G	donor_gain	0.5600
15:79293487:TG:T	donor_gain	0.5500
15:79294292:TC:T	donor_gain	0.5500
15:79294295:G:GT	donor_gain	0.5500
15:79294296:G:T	donor_gain	0.5400

AlphaMissense

3490 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:79293361:T:C	L26S	1.000
15:79293370:T:C	L29P	1.000
15:79293373:T:C	L30P	1.000
15:79293427:T:A	L48H	1.000
15:79293440:C:G	C52W	1.000
15:79293496:T:C	L71P	1.000
15:79293547:C:A	A88D	1.000
15:79293550:T:A	L89H	1.000
15:79293598:T:C	L105S	1.000
15:79293328:T:C	L15S	0.999
15:79293336:G:C	A18P	0.999
15:79293337:C:A	A18D	0.999
15:79293352:G:C	R23T	0.999
15:79293352:G:T	R23M	0.999
15:79293353:G:C	R23S	0.999
15:79293353:G:T	R23S	0.999
15:79293358:G:C	R25T	0.999
15:79293358:G:T	R25M	0.999
15:79293359:G:C	R25S	0.999
15:79293359:G:T	R25S	0.999
15:79293361:T:G	L26W	0.999
15:79293370:T:A	L29Q	0.999
15:79293373:T:A	L30H	0.999
15:79293381:G:A	G33R	0.999
15:79293381:G:C	G33R	0.999
15:79293398:T:A	N38K	0.999
15:79293398:T:G	N38K	0.999
15:79293407:T:A	N41K	0.999
15:79293407:T:G	N41K	0.999
15:79293414:G:C	G44R	0.999

dbSNP variants (sampled 300 via entrez): RS1000373787 (15:79297862 G>A), RS1000421750 (15:79285278 C>T), RS1000430460 (15:79290754 C>G,T), RS1000649793 (15:79298192 T>G), RS1000844575 (15:79280936 G>A), RS1000898498 (15:79298427 C>T), RS1001030464 (15:79286630 C>T), RS1002161553 (15:79291634 C>T), RS1002198383 (15:79288813 T>A), RS1002320125 (15:79295187 C>A), RS1002349059 (15:79281232 T>C), RS1002436000 (15:79294920 A>G,T), RS1002751645 (15:79293248 T>G), RS1002758307 (15:79286729 C>A), RS1003038800 (15:79281013 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
GCST006484_1	Type 2 diabetes	2.000000e-07
GCST009962_5	High myopia	1.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	decreases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Copper	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Thiram	increases expression	1

Clinical trials (associated diseases)

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