ANKAR

Summary

ANKAR (ankyrin and armadillo repeat containing, HGNC:26350) is a protein-coding gene on chromosome 2q32.2, encoding Ankyrin and armadillo repeat-containing protein (Q7Z5J8).

Predicted to be located in membrane.

Source: NCBI Gene 150709 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 301 total — 7 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001378068

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26350
Approved symbol	ANKAR
Name	ankyrin and armadillo repeat containing
Location	2q32.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25415
Ensembl gene	ENSG00000151687
Ensembl biotype	protein_coding
OMIM	609803
Entrez	150709

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding_CDS_not_defined, 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000313581, ENST00000433782, ENST00000441800, ENST00000461516, ENST00000464687, ENST00000467927, ENST00000474303, ENST00000476208, ENST00000520309, ENST00000684021

RefSeq mRNA: 2 — MANE Select: NM_001378068 NM_001378068, NM_144708

CCDS: CCDS33351

Canonical transcript exons

ENST00000684021 — 23 exons

Exon	Start	End
ENSE00001772368	189676456	189677091
ENSE00002258738	189730495	189730601
ENSE00002279237	189733107	189733229
ENSE00002324359	189728267	189728420
ENSE00002462463	189694981	189695161
ENSE00002462766	189696150	189696369
ENSE00002467490	189692255	189692418
ENSE00002471742	189693074	189693177
ENSE00002474032	189705023	189705224
ENSE00002523861	189711049	189711153
ENSE00002523920	189727856	189728097
ENSE00002527278	189720619	189720787
ENSE00003551438	189706938	189707146
ENSE00003563557	189689527	189689964
ENSE00003569856	189738565	189738682
ENSE00003587008	189728660	189728821
ENSE00003626412	189744742	189744788
ENSE00003656653	189743275	189743474
ENSE00003660070	189741342	189741451
ENSE00003670923	189737683	189737841
ENSE00003679785	189719572	189719813
ENSE00003918477	189746380	189746647
ENSE00003919820	189674670	189674830

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 93.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.8167 / max 64.1693, expressed in 1426 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24256	2.2911	1069
24254	1.9225	719
24255	0.5783	279
24253	0.0249	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	93.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.27	gold quality
left ovary	UBERON:0002119	80.89	gold quality
tibial nerve	UBERON:0001323	80.35	gold quality
popliteal artery	UBERON:0002250	80.08	gold quality
tibial artery	UBERON:0007610	80.06	gold quality
body of uterus	UBERON:0009853	80.05	gold quality
sural nerve	UBERON:0015488	79.84	gold quality
descending thoracic aorta	UBERON:0002345	79.76	gold quality
right uterine tube	UBERON:0001302	79.68	gold quality
right ovary	UBERON:0002118	79.44	gold quality
left testis	UBERON:0004533	79.19	gold quality
aorta	UBERON:0000947	79.17	gold quality
right testis	UBERON:0004534	79.14	gold quality
body of pancreas	UBERON:0001150	79.08	gold quality
endocervix	UBERON:0000458	78.82	gold quality
ascending aorta	UBERON:0001496	78.50	gold quality
thoracic aorta	UBERON:0001515	78.49	gold quality
right lobe of thyroid gland	UBERON:0001119	78.44	gold quality
adrenal tissue	UBERON:0018303	78.33	gold quality
left coronary artery	UBERON:0001626	78.31	gold quality
right coronary artery	UBERON:0001625	77.87	gold quality
muscle layer of sigmoid colon	UBERON:0035805	77.87	gold quality
left lobe of thyroid gland	UBERON:0001120	77.84	gold quality
mucosa of stomach	UBERON:0001199	77.64	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	77.62	gold quality
lower esophagus muscularis layer	UBERON:0035833	77.39	gold quality
ectocervix	UBERON:0012249	77.37	gold quality
lower esophagus	UBERON:0013473	77.36	gold quality
testis	UBERON:0000473	77.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.48

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankar	ENSDARG00000000516
mus_musculus	Ankar	ENSMUSG00000039342
rattus_norvegicus	Ankar	ENSRNOG00000003991
drosophila_melanogaster	arm	FBGN0000117
caenorhabditis_elegans	hmp-2	WBGENE00001979

Paralogs (4): ARMC3 (ENSG00000165309), CTNNB1 (ENSG00000168036), ODAD2 (ENSG00000169126), JUP (ENSG00000173801)

Protein

Protein identifiers

Ankyrin and armadillo repeat-containing protein — Q7Z5J8 (reviewed: Q7Z5J8)

All UniProt accessions (2): Q7Z5J8, E7EWS1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Ubiquitously expressed with highest level in pancreas and lowest in skeletal muscle.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7Z5J8-1	1, FLJ25415-2P	yes
Q7Z5J8-2	2
Q7Z5J8-3	3
Q7Z5J8-4	4

RefSeq proteins (2): NP_001364997, NP_653309 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000225	Armadillo	Repeat
IPR002110	Ankyrin_rpt	Repeat
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR043379	ANKAR	Family

Pfam: PF00514, PF12796

UniProt features (29 total): repeat 11, splice variant 9, sequence conflict 5, sequence variant 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z5J8-F1	84.79	0.53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): IGLV5_37_TARGET_GENES, PAX3_TARGET_GENES, UBN1_TARGET_GENES, ZNF711_TARGET_GENES, BLANCO_MELO_MERS_COV_INFECTION_MCR5_CELLS_UP, MANNO_MIDBRAIN_NEUROTYPES_HGABA, LHX2_TARGET_GENES, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_12H_ACT_CD4_TCELL_DN, chr2q32, ZNF320_TARGET_GENES, GSE25123_ROSIGLITAZONE_VS_IL4_AND_ROSIGLITAZONE_STIM_MACROPHAGE_DAY10_DN, GSE37605_TREG_VS_TCONV_C57BL6_FOXP3_IRES_GFP_UP, GSE37605_C57BL6_VS_NOD_FOXP3_IRES_GFP_TCONV_UP, GSE37532_WT_VS_PPARG_KO_LN_TREG_DN

GO Biological Process (0):

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

564 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKAR	OSGEPL1	Q9H4B0	932
ANKAR	TMF1	P82094	820
ANKAR	NEMP2	A6NFY4	661
ANKAR	ORMDL1	Q9P0S3	605
ANKAR	WDR75	Q8IWA0	511
ANKAR	DIRC1	Q969H9	507
ANKAR	IGFALS	P35858	482
ANKAR	NFATC2	Q13469	465
ANKAR	SLC68A1	Q14CX5	455
ANKAR	PMS1	P54277	452
ANKAR	USF3	Q68DE3	447
ANKAR	C17orf67	Q0P5P2	446
ANKAR	FBXL15	Q9H469	440
ANKAR	AKAP19	P0C876	432
ANKAR	UBXN2B	Q14CS0	425

IntAct

2 interactions, top by confidence:

A	B	Type	Score
IQCB1	PCP4L1	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): ANKAR (Affinity Capture-RNA), SNRPB (Cross-Linking-MS (XL-MS)), MICAL3 (Cross-Linking-MS (XL-MS)), RPL31 (Cross-Linking-MS (XL-MS)), ANKAR (Cross-Linking-MS (XL-MS)), EEF1G (Cross-Linking-MS (XL-MS)), ANKAR (Affinity Capture-MS)

ESM2 similar proteins: A1Z8X3, A2RT91, A5D8W1, A6NKT7, B0CM26, B0VXE6, B1WBT0, C9JQI7, F4JY37, G5ED39, H2QII6, O01510, O08662, O14715, O43065, O94324, P0DJD0, P0DJD1, P12798, P32333, P40955, P45964, P49792, Q01015, Q03280, Q03569, Q0IEK6, Q10122, Q13535, Q17551, Q177G4, Q18508, Q21920, Q4UKJ5, Q5K6N0, Q5S007, Q60J38, Q70PP2, Q756G2, Q7TSH2

Diamond homologs: A2RT91, Q3SX45, Q7Z5J8, A6NK59, P0C927, Q08DV6, Q3V096, Q58CT0, Q5U2S6, Q8C6Y6, Q8HXA6, Q8K0L0, Q8N9B4, Q8VHS6, Q8WXK1, Q96Q27, Q9WV72, Q9WV74, Q9Y575, Q9Y576

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	1
Uncertain significance	221
Likely benign	15
Benign	13

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
146486	GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1	Pathogenic
146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	Pathogenic
149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	Pathogenic
153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	Pathogenic
1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	Pathogenic
58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	Pathogenic
977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	Pathogenic
979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	Likely pathogenic

SpliceAI

4588 predictions. Top by Δscore:

Variant	Effect	Δscore
2:189689625:GCT:G	donor_gain	1.0000
2:189692250:T:TA	acceptor_gain	1.0000
2:189705220:GCTGA:G	donor_gain	1.0000
2:189705221:C:G	donor_gain	1.0000
2:189705225:G:GG	donor_gain	1.0000
2:189707042:G:GT	donor_gain	1.0000
2:189752651:A:AC	donor_gain	1.0000
2:189752652:C:CC	donor_gain	1.0000
2:189753910:ACTT:A	donor_loss	1.0000
2:189753911:CTTA:C	donor_loss	1.0000
2:189753912:TTA:T	donor_loss	1.0000
2:189753913:TACCA:T	donor_loss	1.0000
2:189753914:A:AC	donor_gain	1.0000
2:189753914:ACCA:A	donor_loss	1.0000
2:189753915:C:CA	donor_loss	1.0000
2:189753915:C:CC	donor_gain	1.0000
2:189753915:CCAGT:C	donor_gain	1.0000
2:189754061:ATACC:A	acceptor_loss	1.0000
2:189754063:ACCT:A	acceptor_loss	1.0000
2:189754066:T:C	acceptor_loss	1.0000
2:189754259:T:TA	donor_gain	1.0000
2:189755408:C:CA	donor_gain	1.0000
2:189755422:AAGT:A	donor_gain	1.0000
2:189755425:T:TA	donor_gain	1.0000
2:189689518:A:AG	acceptor_gain	0.9900
2:189689519:T:G	acceptor_gain	0.9900
2:189689522:TGAA:T	acceptor_loss	0.9900
2:189689525:A:AG	acceptor_gain	0.9900
2:189689525:AGG:A	acceptor_loss	0.9900
2:189689526:G:GG	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000017156 (2:189762886 G>A,T), RS1000081282 (2:189757267 A>G), RS1000194293 (2:189760565 G>T), RS1000234123 (2:189701965 A>G), RS1000272757 (2:189724144 A>C), RS1000289538 (2:189702238 A>C,G), RS1000333517 (2:189700957 T>A), RS1000501457 (2:189737389 A>G), RS1000531709 (2:189673750 A>G,T), RS1000538019 (2:189757769 C>A,T), RS1000591391 (2:189756153 T>G), RS1000595148 (2:189675090 C>G,T), RS1000681241 (2:189680019 C>A), RS1000713176 (2:189681817 T>C), RS1000744355 (2:189674530 C>T)

Disease associations

OMIM: gene MIM:609803 | disease phenotypes: MIM:613796, MIM:614162, MIM:614892, MIM:612313

GenCC curated gene-disease

Mondo (4): immunodeficiency 31B (MONDO:0013427), autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome (MONDO:0013599), Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (MONDO:0013956), chromosome 2q32-q33 deletion syndrome (MONDO:0012864)

Orphanet (5): Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (Orphanet:319595), Susceptibility to viral and mycobacterial infections due to STAT1 deficiency (Orphanet:391311), STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (Orphanet:391487), 2q32q33 deletion syndrome (Orphanet:251019), SATB2-associated syndrome due to a pathogenic variant (Orphanet:576283)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001762_565	Obesity-related traits	6.000000e-06
GCST002578_1	Ferritin levels	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0003939	energy intake
EFO:0004459	ferritin measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567350	Chromosome 2q32-Q33 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
dimethylselenide	increases expression, increases oxidation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Melphalan	decreases expression	1
Aflatoxin B1	decreases methylation	1
Hydroxyl Radical	increases expression, increases oxidation	1
Cadmium Chloride	increases abundance, increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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