ANKRD45

Summary

ANKRD45 (ankyrin repeat domain 45, HGNC:24786) is a protein-coding gene on chromosome 1q25.1, encoding Ankyrin repeat domain-containing protein 45 (Q5TZF3). May play a role during cell division.

Involved in cell population proliferation. Located in several cellular components, including centrosome; cleavage furrow; and midbody.

Source: NCBI Gene 339416 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 51 total — 3 pathogenic
• MANE Select transcript: NM_198493

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24786
Approved symbol	ANKRD45
Name	ankyrin repeat domain 45
Location	1q25.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ45235, CT117
Ensembl gene	ENSG00000183831
Ensembl biotype	protein_coding
OMIM	618712
Entrez	339416

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000333279, ENST00000367712, ENST00000924220

RefSeq mRNA: 1 — MANE Select: NM_198493 NM_198493

CCDS: CCDS1309

Canonical transcript exons

ENST00000333279 — 6 exons

Exon	Start	End
ENSE00001300567	173624787	173624925
ENSE00001317942	173646846	173647013
ENSE00001322321	173627065	173627159
ENSE00002143632	173669817	173669851
ENSE00002172650	173608336	173610215
ENSE00002248306	173659091	173659433

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 95.41.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9714 / max 114.8289, expressed in 278 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15951	0.9714	278

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.41	gold quality
bronchial epithelial cell	CL:0002328	90.48	gold quality
bronchus	UBERON:0002185	88.50	gold quality
cortical plate	UBERON:0005343	85.70	gold quality
secondary oocyte	CL:0000655	84.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.64	gold quality
mucosa of paranasal sinus	UBERON:0005030	81.72	gold quality
oviduct epithelium	UBERON:0004804	81.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.65	gold quality
oocyte	CL:0000023	76.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	74.13	gold quality
right uterine tube	UBERON:0001302	74.10	gold quality
fallopian tube	UBERON:0003889	73.11	gold quality
ventricular zone	UBERON:0003053	72.20	gold quality
ganglionic eminence	UBERON:0004023	71.15	gold quality
adult organism	UBERON:0007023	70.44	gold quality
epithelium of nasopharynx	UBERON:0001951	70.43	gold quality
caudate nucleus	UBERON:0001873	68.70	gold quality
nucleus accumbens	UBERON:0001882	67.68	gold quality
testis	UBERON:0000473	67.63	gold quality
left testis	UBERON:0004533	66.44	gold quality
prefrontal cortex	UBERON:0000451	66.40	gold quality
right testis	UBERON:0004534	66.16	gold quality
putamen	UBERON:0001874	64.98	gold quality
anterior cingulate cortex	UBERON:0009835	62.61	gold quality
islet of Langerhans	UBERON:0000006	62.36	gold quality
smooth muscle tissue	UBERON:0001135	61.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	61.37	gold quality
amygdala	UBERON:0001876	61.22	gold quality
mucosa of transverse colon	UBERON:0004991	61.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

112 targeting ANKRD45, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778

Literature-anchored findings (GeneRIF, showing 1)

• we show that the distribution of ANKRD45 protein was highly dynamic during mitosis. ANKRD45 is preferably localized to the midbody ring during cytokinesis. Together, our results suggest that Ankrd45 is a novel ankyrin repeat protein with a conserved role during cell proliferation in both zebrafish embryos and mammalian cells (PMID:31208154)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd45	ENSDARG00000011326
mus_musculus	Ankrd45	ENSMUSG00000044835
rattus_norvegicus	Ankrd45	ENSRNOG00000002890
drosophila_melanogaster	Tnks	FBGN0027508
caenorhabditis_elegans	tnsl-1	WBGENE00010498

Paralogs (2): TNKS2 (ENSG00000107854), TNKS (ENSG00000173273)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 45 — Q5TZF3 (reviewed: Q5TZF3)

All UniProt accessions (1): Q5TZF3

UniProt curated annotations — full annotation on UniProt →

Function. May play a role during cell division.

Subcellular location. Cytoplasm. Midbody. Midbody ring. Cleavage furrow.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5TZF3-2	1	yes
Q5TZF3-1	2

RefSeq proteins (1): NP_940895* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR029048	HSP70_C_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050776	Ank_Repeat/CDKN_Inhibitor	Family

Pfam: PF12796

UniProt features (7 total): repeat 2, compositionally biased region 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TZF3-F1	81.12	0.60

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): EFC_Q6, RFX1_02, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOCC_CELL_DIVISION_SITE, GOCC_MIDBODY, GOCC_PLASMA_MEMBRANE_REGION, DODD_NASOPHARYNGEAL_CARCINOMA_DN, chr1q25, GOCC_CLEAVAGE_FURROW, GOCC_FLEMMING_BODY, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE5503_MLN_DC_VS_PLN_DC_ACTIVATED_ALLOGENIC_TCELL_DN, CHAMP1_TARGET_GENES, MIR4728_5P, MIR6785_5P

GO Biological Process (1): cell population proliferation (GO:0008283)

GO Molecular Function (2): molecular_function (GO:0003674), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), midbody (GO:0030496), cleavage furrow (GO:0032154), Flemming body (GO:0090543)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cellular process	1
binding	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
cytoplasm	1
membrane	1
cell periphery	1
cell division site	1
plasma membrane region	1
midbody	1

Protein interactions and networks

STRING

3369 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD45	TEX50	A0A1B0GTY4	633
ANKRD45	ADAMTS18	Q8TE60	515
ANKRD45	ZBTB37	Q5TC79	512
ANKRD45	FAM153B	P0C7A2	480
ANKRD45	KIAA0040	Q15053	476
ANKRD45	FAM218A	Q96MZ4	447
ANKRD45	ZBED11	P0CF97	433
ANKRD45	SLC9C2	Q5TAH2	432
ANKRD45	ACTR8	Q9H981	432
ANKRD45	MAGEB3	O15480	422
ANKRD45	PCDHA4	Q9UN74	413
ANKRD45	CENPL	Q8N0S6	410
ANKRD45	CDK4	P11802	407
ANKRD45	C1orf198	Q9H425	407
ANKRD45	GOLGA6L10	A6NI86	402

IntAct

5 interactions, top by confidence:

A	B	Type	Score
MAGEA2B	ANKRD45	psi-mi:“MI:0915”(physical association)	0.560
ANKRD45	PDIA6	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (7): ANKRD45 (Two-hybrid), ANKRD45 (Two-hybrid), ANKRD45 (Two-hybrid), MAGEA2 (Two-hybrid), ANKRD45 (Proximity Label-MS), ANKRD45 (Two-hybrid), APP (Reconstituted Complex)

ESM2 similar proteins: A5D7S3, A5PKL6, A6NHR9, A6NNW6, A6QPQ5, A6QPR9, A8K855, O02789, O75717, P27641, P59328, P60670, P82933, Q0IHV1, Q2T9V5, Q32KZ1, Q496Z9, Q4R6C7, Q4R6Y8, Q58DQ5, Q5F204, Q5M882, Q5R5T0, Q5R952, Q5RL51, Q5TZF3, Q69ZX6, Q6AZN0, Q6DDT5, Q6P5D8, Q7Z2T5, Q8CE96, Q8NEC7, Q8R3N6, Q8TAT6, Q8VDY4, Q8VI84, Q8WTT2, Q91Y26, Q96FV9

Diamond homologs: A0A0D1CD96, A0A509AJG0, A2Q0Z1, B0S794, P08108, P11142, P12794, P19120, P19208, P19378, P40918, P63017, P63018, P78695, Q05866, Q05944, Q5NVM9, Q5TZF3, Q5U464, Q71U34, Q8T869, Q90473, Q90593, G3I8R9, P05456, P06761, P07823, P11021, P20029, P59769, P83616, P83617, Q0VCX2, Q3S4T7, Q5R4P0, Q810N6, Q91883, Q24798, Q24895

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	42
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	Pathogenic
1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	Pathogenic
60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	Pathogenic

SpliceAI

1096 predictions. Top by Δscore:

Variant	Effect	Δscore
1:173610214:ACC:A	acceptor_loss	1.0000
1:173610215:CCTGA:C	acceptor_loss	1.0000
1:173610216:C:A	acceptor_loss	1.0000
1:173610216:C:CC	acceptor_gain	1.0000
1:173610217:T:G	acceptor_loss	1.0000
1:173624780:AACTT:A	donor_loss	1.0000
1:173624783:TTAC:T	donor_loss	1.0000
1:173624784:T:TG	donor_loss	1.0000
1:173624785:A:AC	donor_gain	1.0000
1:173624785:AC:A	donor_loss	1.0000
1:173624786:C:A	donor_loss	1.0000
1:173624786:C:CT	donor_gain	1.0000
1:173624786:CAT:C	donor_gain	1.0000
1:173624786:CATG:C	donor_gain	1.0000
1:173624786:CATGG:C	donor_gain	1.0000
1:173624921:GTATT:G	acceptor_gain	1.0000
1:173624922:TATT:T	acceptor_gain	1.0000
1:173624924:TT:T	acceptor_gain	1.0000
1:173624925:TCTA:T	acceptor_loss	1.0000
1:173624926:C:CA	acceptor_loss	1.0000
1:173624926:C:CC	acceptor_gain	1.0000
1:173627060:AGTAC:A	donor_loss	1.0000
1:173627061:GTAC:G	donor_loss	1.0000
1:173627062:TA:T	donor_loss	1.0000
1:173627063:A:T	donor_loss	1.0000
1:173627064:CCTTG:C	donor_loss	1.0000
1:173627160:C:CC	acceptor_gain	1.0000
1:173659314:AGGG:A	donor_gain	1.0000
1:173659431:TACC:T	acceptor_loss	1.0000
1:173659432:ACCTA:A	acceptor_loss	1.0000

AlphaMissense

1749 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:173646893:G:T	A150D	0.991
1:173646989:G:T	A118E	0.990
1:173646922:G:C	N140K	0.988
1:173646922:G:T	N140K	0.988
1:173646990:C:G	A118P	0.986
1:173659166:A:G	C85R	0.982
1:173646986:G:T	A119D	0.981
1:173646992:G:T	A117D	0.980
1:173659164:G:C	C85W	0.980
1:173646984:A:G	W120R	0.978
1:173646984:A:T	W120R	0.978
1:173659185:T:A	R78S	0.978
1:173659185:T:G	R78S	0.978
1:173646849:C:G	A165P	0.975
1:173624889:A:G	W210R	0.974
1:173624889:A:T	W210R	0.974
1:173646857:A:G	L162P	0.974
1:173646894:C:G	A150P	0.974
1:173646905:G:T	A146D	0.973
1:173624831:A:G	L229P	0.971
1:173627144:A:G	L171P	0.970
1:173646982:C:A	W120C	0.970
1:173646982:C:G	W120C	0.970
1:173646987:C:G	A119P	0.970
1:173646956:A:G	L129P	0.967
1:173659165:C:T	C85Y	0.966
1:173627157:C:G	A167P	0.963
1:173646857:A:T	L162Q	0.960
1:173646859:G:C	F161L	0.960
1:173646859:G:T	F161L	0.960

dbSNP variants (sampled 300 via entrez): RS1000000710 (1:173680455 C>T), RS1000003492 (1:173634713 A>G), RS1000014316 (1:173676470 C>T), RS1000062888 (1:173679887 C>A), RS1000076873 (1:173609868 G>T), RS1000106268 (1:173618931 G>A), RS1000115791 (1:173715778 A>G), RS1000142691 (1:173656529 G>A), RS1000241759 (1:173686417 G>A), RS1000268664 (1:173627771 T>A), RS1000269357 (1:173637181 G>A), RS1000294839 (1:173671653 G>A), RS1000318334 (1:173673383 G>A), RS1000346202 (1:173621787 G>C), RS1000352343 (1:173612740 G>A)

Disease associations

OMIM: gene MIM:618712 | 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
GCST004863_47	Mosquito bite size	3.000000e-06
GCST006269_1217	General cognitive ability	4.000000e-08
GCST006940_115	Neurociticism	2.000000e-09
GCST006952_13	Feeling tense	3.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008378	mosquito bite reaction size measurement
EFO:0004337	intelligence
EFO:0007660	neuroticism measurement
EFO:0009596	feeling tense measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, affects methylation, increases abundance	2
Valproic Acid	affects expression, decreases methylation	2
bisphenol A	affects cotreatment, increases methylation	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	increases expression	1
Benzo(a)pyrene	increases methylation	1
Nitrogen Dioxide	affects methylation, increases abundance	1
Oxygen	increases expression	1
Phthalic Acids	decreases methylation	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	affects methylation, increases abundance	1

Clinical trials (associated diseases)

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