ANKRD62

Summary

ANKRD62 (ankyrin repeat domain 62, HGNC:35241) is a protein-coding gene on chromosome 18p11.21, encoding Ankyrin repeat domain-containing protein 62 (A6NC57).

At a glance

• Clinical variants (ClinVar): 9 total — 2 pathogenic
• MANE Select transcript: NM_001277333

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35241
Approved symbol	ANKRD62
Name	ankyrin repeat domain 62
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp779B1634
Ensembl gene	ENSG00000181626
Ensembl biotype	protein_coding
Entrez	342850

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000418274, ENST00000587848

RefSeq mRNA: 1 — MANE Select: NM_001277333 NM_001277333

CCDS: CCDS67439

Canonical transcript exons

ENST00000587848 — 14 exons

Exon	Start	End
ENSE00001365126	12095437	12095610
ENSE00001385238	12097640	12097777
ENSE00001693310	12095171	12095285
ENSE00001798080	12099615	12099682
ENSE00001801005	12096196	12096302
ENSE00002932617	12127748	12129764
ENSE00002968791	12093843	12094235
ENSE00003602537	12103158	12103228
ENSE00003704312	12122303	12122516
ENSE00003706712	12107295	12107467
ENSE00003709395	12124137	12124320
ENSE00003709730	12115393	12115534
ENSE00003709878	12125460	12126383
ENSE00003710323	12115088	12115121

Expression profiles

Bgee: expression breadth broad, 18 present calls, max score 84.32.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0876 / max 90.2170, expressed in 8 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169480	0.0531	5
169479	0.0191	5
169481	0.0093	4
169478	0.0060	2

Top tissues by expression

120 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	84.32	gold quality
body of pancreas	UBERON:0001150	61.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	56.40	gold quality
pancreas	UBERON:0001264	55.03	gold quality
testis	UBERON:0000473	51.56	gold quality
left testis	UBERON:0004533	47.66	gold quality
right testis	UBERON:0004534	47.63	gold quality
cortical plate	UBERON:0005343	46.78	gold quality
sural nerve	UBERON:0015488	44.86	gold quality
lower esophagus mucosa	UBERON:0035834	43.22	silver quality
bone marrow cell	CL:0002092	41.96	gold quality
tonsil	UBERON:0002372	41.87	gold quality
colonic epithelium	UBERON:0000397	41.21	gold quality
esophagus mucosa	UBERON:0002469	41.09	silver quality
primary visual cortex	UBERON:0002436	39.94	gold quality
skeletal muscle tissue	UBERON:0001134	39.48	gold quality
right lung	UBERON:0002167	39.12	gold quality
ganglionic eminence	UBERON:0004023	38.82	gold quality
stromal cell of endometrium	CL:0002255	38.81	gold quality
superior frontal gyrus	UBERON:0002661	38.24	gold quality
leukocyte	CL:0000738	37.87	gold quality
prefrontal cortex	UBERON:0000451	37.54	gold quality
esophagus	UBERON:0001043	37.17	silver quality
monocyte	CL:0000576	37.07	gold quality
vagina	UBERON:0000996	37.05	silver quality
uterine cervix	UBERON:0000002	36.82	silver quality
duodenum	UBERON:0002114	36.73	gold quality
muscle tissue	UBERON:0002385	36.71	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
endometrium	UBERON:0001295	36.14	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.25
E-MTAB-5061	no	1.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting ANKRD62, 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-340-5P	100.00	72.50	4437
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-6832-5P	99.58	64.82	1132

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	CG8679	FBGN0032934
drosophila_melanogaster	CG42391	FBGN0259737
caenorhabditis_elegans	lem-3	WBGENE00002276
caenorhabditis_elegans		WBGENE00019483
caenorhabditis_elegans		WBGENE00206377

Paralogs (7): ANKRD26 (ENSG00000107890), ANKRD30A (ENSG00000148513), ANKRD30BL (ENSG00000163046), ANKRD18A (ENSG00000180071), ANKRD30B (ENSG00000180777), ANKRD18B (ENSG00000230453), ANKRD20A1 (ENSG00000260691)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 62 — A6NC57 (reviewed: A6NC57)

All UniProt accessions (1): A6NC57

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
A6NC57-1	1	yes
A6NC57-2	2

RefSeq proteins (1): NP_001264262* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039497	CC144C-like_CC_dom	Domain
IPR050657

Pfam: PF12796, PF14915

UniProt features (24 total): sequence conflict 7, repeat 5, sequence variant 4, compositionally biased region 3, coiled-coil region 2, chain 1, splice variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NC57-F1	75.28	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): MIR340_5P, MIR302C_5P, MIR539_5P, MIR4503, MIR4735_5P, MIR451B, MIR4677_3P, MIR6783_5P, MIR4284, DESCARTES_FETAL_KIDNEY_MEGAKARYOCYTES, ZNF740_TARGET_GENES, chr18p11, PULVER_FOREY_CELLCYCLE_PEAKING_M, GSE20727_CTRL_VS_DNFB_ALLERGEN_TREATED_DC_DN

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

950 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD62	C3orf22	Q8N5N4	583
ANKRD62	MTMR12	Q9C0I1	573
ANKRD62	EEF2KMT	Q96G04	563
ANKRD62	RNASE12	Q5GAN4	544
ANKRD62	C12orf56	Q8IXR9	543
ANKRD62	SMIM17	P0DL12	527
ANKRD62	WDR97	A6NE52	513
ANKRD62	CC2D2B	Q6DHV5	509
ANKRD62	SH2D7	A6NKC9	507
ANKRD62	C22orf42	Q6IC83	507
ANKRD62	C1orf167	Q5SNV9	507
ANKRD62	CT62	P0C5K7	506
ANKRD62	SPDYE4	A6NLX3	480
ANKRD62	CLPSL1	A2RUU4	479
ANKRD62	EPCIP	Q9NYP8	477

IntAct

2 interactions, top by confidence:

A	B	Type	Score
MAP1LC3A	ANKRD62	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (3): ANKRD62 (Protein-peptide), EEA1 (Cross-Linking-MS (XL-MS)), NOS1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0A6YYL3, A0JP26, A2A2Z9, A2RUR9, A6NC57, A6NI47, A6QR20, A8MYB1, A9JSR5, A9ZSY0, B2RU33, B7ZQJ9, F1M5M3, H3BUK9, O15050, P51954, P98182, Q19UN5, Q4UJ75, Q501X2, Q5CZ79, Q5DW34, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6NSI1, Q6S545, Q6S5H5, Q6S8J7, Q71S21, Q7TPV2, Q7TSC3, Q7ZT11, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8IYA2

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q3MJ40, Q4R3S3, Q4UJ75, Q5CZ79, Q5JPF3, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IYA2, Q92527, Q9BXX2, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q8IVF6, A6QL64, Q8N2N9, Q8NF67, Q96IX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	4
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1526606	GRCh37/hg19 18p11.21(chr18:11723294-12125977)	Pathogenic
689050	GRCh37/hg19 18p11.21(chr18:11723213-12125657)x1	Pathogenic

SpliceAI

2083 predictions. Top by Δscore:

Variant	Effect	Δscore
18:12094236:G:GG	donor_gain	1.0000
18:12094236:GTAAG:G	donor_loss	1.0000
18:12094237:T:G	donor_loss	1.0000
18:12095426:A:AG	acceptor_gain	1.0000
18:12095427:A:G	acceptor_gain	1.0000
18:12095429:A:AG	acceptor_gain	1.0000
18:12095429:ACT:A	acceptor_gain	1.0000
18:12095430:C:G	acceptor_gain	1.0000
18:12095431:T:A	acceptor_gain	1.0000
18:12095432:GACAG:G	acceptor_loss	1.0000
18:12095436:G:GC	acceptor_loss	1.0000
18:12095436:GGCT:G	acceptor_gain	1.0000
18:12095606:GCCAG:G	donor_gain	1.0000
18:12095608:CAGG:C	donor_loss	1.0000
18:12095609:AGG:A	donor_loss	1.0000
18:12095611:G:GA	donor_loss	1.0000
18:12095611:G:GG	donor_gain	1.0000
18:12095612:T:G	donor_loss	1.0000
18:12096192:GCA:G	acceptor_loss	1.0000
18:12096194:A:AC	acceptor_loss	1.0000
18:12096194:A:AG	acceptor_gain	1.0000
18:12096194:AG:A	acceptor_gain	1.0000
18:12096194:AGGAT:A	acceptor_gain	1.0000
18:12096195:G:GA	acceptor_gain	1.0000
18:12096195:GG:G	acceptor_gain	1.0000
18:12096195:GGATG:G	acceptor_gain	1.0000
18:12096298:GGAAG:G	donor_gain	1.0000
18:12096299:GAAGG:G	donor_gain	1.0000
18:12096300:A:T	donor_gain	1.0000
18:12096300:AAGGT:A	donor_loss	1.0000

AlphaMissense

6152 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:12097693:T:C	L223P	0.954
18:12095437:G:C	A112P	0.953
18:12095536:G:C	A145P	0.945
18:12094096:T:C	F27L	0.930
18:12094098:C:A	F27L	0.930
18:12094098:C:G	F27L	0.930
18:12095506:G:C	D135H	0.927
18:12096253:T:C	F189L	0.923
18:12096255:T:A	F189L	0.923
18:12096255:T:G	F189L	0.923
18:12097696:T:C	L224P	0.922
18:12097755:G:C	A244P	0.920
18:12097656:G:C	A211P	0.918
18:12097756:C:A	A244D	0.916
18:12095508:T:A	D135E	0.914
18:12095508:T:G	D135E	0.914
18:12125533:T:C	L571P	0.911
18:12095573:T:C	L157P	0.906
18:12097684:T:A	V220D	0.903
18:12096257:T:C	L190S	0.901
18:12097657:C:A	A211D	0.900
18:12094154:C:A	A46D	0.898
18:12125862:T:C	F681L	0.896
18:12125864:C:A	F681L	0.896
18:12125864:C:G	F681L	0.896
18:12095525:C:A	A141D	0.895
18:12094153:G:C	A46P	0.894
18:12097725:G:C	D234H	0.891
18:12095171:G:C	R73S	0.890
18:12095171:G:T	R73S	0.890

dbSNP variants (sampled 300 via entrez): RS1000005226 (18:12126585 AT>A), RS1000005622 (18:12171880 A>T), RS1000089249 (18:12110556 C>A), RS1000102370 (18:12152074 T>A), RS1000109355 (18:12092468 C>G), RS1000157962 (18:12178764 C>T), RS1000197654 (18:12115970 C>G), RS1000245620 (18:12106975 A>G), RS1000269242 (18:12152973 A>T), RS1000324519 (18:12159647 C>T), RS1000435754 (18:12166787 C>T), RS1000449279 (18:12113034 A>C,G), RS1000489563 (18:12166534 G>A), RS1000544338 (18:12110082 C>G), RS1000571075 (18:12141594 C>A,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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
cyclic 3’,5’-uridine monophosphate	affects binding	1
Cadmium	decreases expression, increases abundance	1
Malathion	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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