ANKRD61

Summary

ANKRD61 (ankyrin repeat domain 61, HGNC:22467) is a protein-coding gene on chromosome 7p22.1, encoding Ankyrin repeat domain-containing protein 61 (A6NGH8).

Located in nucleoplasm.

Source: NCBI Gene 100310846 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001271700

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22467
Approved symbol	ANKRD61
Name	ankyrin repeat domain 61
Location	7p22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000157999
Ensembl biotype	protein_coding
OMIM	621326
Entrez	100310846

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000409061

RefSeq mRNA: 1 — MANE Select: NM_001271700 NM_001271700

CCDS: CCDS64590

Canonical transcript exons

ENST00000409061 — 3 exons

Exon	Start	End
ENSE00001036447	6032839	6032936
ENSE00001307779	6031376	6031591
ENSE00001583204	6035444	6036552

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 97.06.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
quadriceps femoris	UBERON:0001377	97.06	gold quality
cerebellar vermis	UBERON:0004720	88.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.18	silver quality
thymus	UBERON:0002370	81.24	silver quality
bone marrow	UBERON:0002371	70.28	gold quality
stromal cell of endometrium	CL:0002255	69.02	gold quality
right testis	UBERON:0004534	68.56	gold quality
testis	UBERON:0000473	68.39	gold quality
left testis	UBERON:0004533	68.17	gold quality
bone marrow cell	CL:0002092	66.99	silver quality
colonic epithelium	UBERON:0000397	65.19	silver quality
endometrium	UBERON:0001295	65.11	gold quality
monocyte	CL:0000576	62.15	gold quality
leukocyte	CL:0000738	61.79	gold quality
tonsil	UBERON:0002372	61.17	gold quality
skeletal muscle tissue	UBERON:0001134	60.90	gold quality
body of pancreas	UBERON:0001150	60.82	gold quality
adrenal tissue	UBERON:0018303	60.80	gold quality
left ovary	UBERON:0002119	59.95	gold quality
smooth muscle tissue	UBERON:0001135	59.68	gold quality
ovary	UBERON:0000992	59.38	gold quality
rectum	UBERON:0001052	59.25	gold quality
skin of leg	UBERON:0001511	59.23	gold quality
muscle tissue	UBERON:0002385	59.18	gold quality
right adrenal gland cortex	UBERON:0035827	59.04	gold quality
pancreas	UBERON:0001264	58.97	gold quality
zone of skin	UBERON:0000014	58.93	gold quality
right adrenal gland	UBERON:0001233	58.89	gold quality
myometrium	UBERON:0001296	58.72	gold quality
subcutaneous adipose tissue	UBERON:0002190	58.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting ANKRD61, 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-513A-5P	100.00	69.77	2465
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-1287-3P	99.63	66.93	492
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-222-5P	98.75	69.17	1242
HSA-MIR-34B-3P	98.70	67.40	1171
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-4676-5P	97.54	65.29	715
HSA-MIR-575	97.54	65.18	718
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-125A-3P	97.04	66.92	902
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-552-3P	96.68	64.12	1026
HSA-MIR-6858-3P	96.37	64.41	771
HSA-MIR-2276-5P	96.27	65.85	937
HSA-MIR-1238-5P	94.82	67.52	493
HSA-MIR-4758-5P	94.82	67.06	499

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd61	ENSMUSG00000029607
rattus_norvegicus	Ankrd61	ENSRNOG00000001048
drosophila_melanogaster	wtrw	FBGN0260005
caenorhabditis_elegans		WBGENE00007801

Paralogs (1): ANKRD54 (ENSG00000100124)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 61 — A6NGH8 (reviewed: A6NGH8)

All UniProt accessions (1): A6NGH8

RefSeq proteins (1): NP_001258629* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050663	Ankyrin-SOCS_Box	Family

Pfam: PF12796, PF13637

UniProt features (9 total): repeat 8, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGH8-F1	84.88	0.61

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): chr7p22, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MAFG_TARGET_GENES, MIR493_5P, MIR9902, MIR3129_5P, MIR199A_3P_MIR199B_3P, MIR6858_3P, MIR4676_5P, MIR575, MIR1287_3P, GSE7596_AKT_TRANSD_VS_CTRL_CD4_TCONV_WITH_TGFB_DN, DESCARTES_FETAL_LIVER_ERYTHROBLASTS, GSE9946_LISTERIA_INF_MATURE_VS_PROSTAGLANDINE2_TREATED_MATURE_DC_UP, GSE12505_WT_VS_E2_2_HET_PDC_DN

GO Biological Process (0):

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

GO Cellular Component (1): nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

547 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD61	RSPH10B	P0C881	697
ANKRD61	AIMP2	Q13155	634
ANKRD61	RSPH10B2	B2RC85	582
ANKRD61	PMS2	P54278	453
ANKRD61	CYTH3	O43739	426
ANKRD61	KAZN	Q674X7	426
ANKRD61	ATRNL1	Q5VV63	411
ANKRD61	EIF2AK1	Q9BQI3	409
ANKRD61	USP42	Q9H9J4	397
ANKRD61	CCZ1B	P86790	385
ANKRD61	DNAH10	Q8IVF4	381
ANKRD61	ANKRD31	Q8N7Z5	362
ANKRD61	CPOX	P36551	351
ANKRD61	ST3GAL6	Q9Y274	348
ANKRD61	MSH3	P20585	332

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A1ZAW0, A1ZBY1, A6NGH8, A8XDF8, B3M383, B3P3W1, B4GEU5, B4HLH4, B4JT42, B4K5R2, B4LX81, B4NBB0, B4PRJ9, B8A4F4, G5EF68, O44997, O73630, P17221, P21541, P34529, P53355, Q20666, Q24314, Q296Q5, Q29LT4, Q2T9W8, Q2WF59, Q3EC11, Q5EFR1, Q5I155, Q5RAG3, Q5RCK5, Q5ZI87, Q641X1, Q7QCW2, Q7T163, Q91ZU0, Q9BGT9, Q9CQM6, Q9EQG6

Diamond homologs: A2AQH4, A2AS55, A6NGH8, A6QR20, O14974, Q2T9W8, Q499M5, Q5H9F3, Q641X1, Q6P6B7, Q6W2J9, Q86WC6, Q8CGN4, Q9BQI6, Q9D119, Q9UU77, Q9XZC0, P17369, P25799, P25963, Q4FE45, Q4JHE0, Q8BTI7, Q8NB46, Q96NS5, Q9CQ31, Q9CQM6, Q9H2K2, A0A084B9Z8, A4II29, B4E2M5, F1MJR8, O14593, O75762, Q337A0, Q3KP44, Q3SX00, Q3V096, Q4UMP3, Q54HW1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

588 predictions. Top by Δscore:

Variant	Effect	Δscore
7:6032835:A:AG	acceptor_gain	1.0000
7:6032836:A:G	acceptor_gain	1.0000
7:6032837:A:G	acceptor_gain	1.0000
7:6032837:AGC:A	acceptor_loss	1.0000
7:6032838:G:GG	acceptor_gain	1.0000
7:6032838:GCC:G	acceptor_gain	1.0000
7:6032932:GTCAG:G	donor_gain	1.0000
7:6032937:G:GA	donor_loss	1.0000
7:6032938:T:G	donor_loss	1.0000
7:6032838:GC:G	acceptor_gain	0.9900
7:6032937:G:GG	donor_gain	0.9900
7:6035790:ATTG:A	donor_gain	0.9900
7:6032833:CCAAA:C	acceptor_gain	0.9800
7:6032834:CAAA:C	acceptor_gain	0.9800
7:6032835:AAAGC:A	acceptor_gain	0.9800
7:6032837:AGCC:A	acceptor_gain	0.9800
7:6032837:AGCCG:A	acceptor_gain	0.9800
7:6032838:GCCG:G	acceptor_gain	0.9800
7:6032838:GCCGA:G	acceptor_gain	0.9800
7:6032933:TCAG:T	donor_gain	0.9800
7:6031587:CCCAG:C	donor_loss	0.9700
7:6031588:CCAGG:C	donor_loss	0.9700
7:6031589:CAG:C	donor_loss	0.9700
7:6031590:AG:A	donor_loss	0.9700
7:6031591:GG:G	donor_loss	0.9700
7:6031592:GTA:G	donor_loss	0.9700
7:6031593:T:G	donor_loss	0.9700
7:6032836:AAGC:A	acceptor_gain	0.9700
7:6032838:G:C	acceptor_gain	0.9700
7:6032836:AAGCC:A	acceptor_gain	0.9600

AlphaMissense

2729 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:6032893:A:C	S91R	0.981
7:6032895:T:A	S91R	0.981
7:6032895:T:G	S91R	0.981
7:6035985:T:C	C286R	0.968
7:6032870:C:A	A83D	0.957
7:6035987:C:G	C286W	0.952
7:6035754:G:C	A209P	0.950
7:6035689:T:C	L187S	0.948
7:6035751:G:C	A208P	0.946
7:6031478:G:C	A35P	0.944
7:6032897:T:C	L92P	0.942
7:6032906:T:C	L95P	0.942
7:6035853:G:C	A242P	0.939
7:6036081:T:G	Y318D	0.937
7:6032920:G:C	A100P	0.933
7:6035983:C:A	A285E	0.932
7:6035982:G:C	A285P	0.930
7:6032867:T:C	L82P	0.929
7:6032858:C:A	P79H	0.928
7:6035743:T:A	L205H	0.927
7:6032858:C:G	P79R	0.926
7:6035934:G:C	A269P	0.926
7:6032872:G:C	A84P	0.920
7:6036085:T:C	L319P	0.918
7:6035788:T:C	L220P	0.915
7:6035857:T:A	V243E	0.915
7:6036019:T:C	L297P	0.915
7:6035845:T:C	L239P	0.914
7:6035923:T:C	L265P	0.913
7:6032906:T:A	L95Q	0.911

dbSNP variants (sampled 300 via entrez): RS1000480877 (7:6030727 G>C), RS1000966395 (7:6033220 C>A,T), RS1001190267 (7:6033331 A>C), RS1001223422 (7:6030472 G>A,C), RS1001275845 (7:6030671 G>A,C,T), RS1001401875 (7:6035845 T>A,C), RS1002239269 (7:6031777 C>T), RS1002309787 (7:6032174 T>C), RS1002698395 (7:6032065 T>G), RS1002845094 (7:6034976 G>A), RS1003079897 (7:6034548 G>A), RS1004754655 (7:6036182 T>A), RS1005105930 (7:6035983 C>A,T), RS1005269429 (7:6035591 G>A,C,T), RS1006180880 (7:6030398 C>T)

Disease associations

OMIM: gene MIM:621326 | 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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
di-n-butylphosphoric acid	affects expression	1
tebuconazole	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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