ANKRD55

gene
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Also known as FLJ11795

Summary

ANKRD55 (ankyrin repeat domain 55, HGNC:25681) is a protein-coding gene on chromosome 5q11.2, encoding Ankyrin repeat domain-containing protein 55 (Q3KP44).

At a glance

  • GWAS associations: 79
  • Clinical variants (ClinVar): 107 total — 1 pathogenic
  • Phenotypes (HPO): 45
  • MANE Select transcript: NM_024669

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25681
Approved symbolANKRD55
Nameankyrin repeat domain 55
Location5q11.2
Locus typegene with protein product
StatusApproved
AliasesFLJ11795
Ensembl geneENSG00000164512
Ensembl biotypeprotein_coding
OMIM615189
Entrez79722

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000341048, ENST00000434982, ENST00000504958, ENST00000505970, ENST00000513241, ENST00000519114

RefSeq mRNA: 1 — MANE Select: NM_024669 NM_024669

CCDS: CCDS34161

Canonical transcript exons

ENST00000341048 — 12 exons

ExonStartEnd
ENSE000013784145617069456170803
ENSE000013791275612692256127106
ENSE000013838725617615256176282
ENSE000014081165623324156233330
ENSE000014150495609968056100304
ENSE000020901825611111856111782
ENSE000021395795610249456102586
ENSE000035090675618351256183634
ENSE000035620235615983356159893
ENSE000036290335623285656232946
ENSE000036781195611661556116782
ENSE000036835395614380156143929

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 85.26.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4319 / max 111.4469, expressed in 279 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
617330.599986
617300.4151102
617340.277383
617310.090646
617290.043124
617350.00582

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.26gold quality
spermCL:000001984.22gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.21gold quality
male germ cellCL:000001582.06gold quality
bloodUBERON:000017877.80gold quality
lymph nodeUBERON:000002972.77gold quality
leukocyteCL:000073871.44gold quality
monocyteCL:000057671.25gold quality
mononuclear cellCL:000084271.20gold quality
granulocyteCL:000009470.50gold quality
prefrontal cortexUBERON:000045168.09gold quality
hypothalamusUBERON:000189867.83gold quality
buccal mucosa cellCL:000233667.32gold quality
testisUBERON:000047366.13gold quality
left testisUBERON:000453365.76gold quality
right testisUBERON:000453465.63gold quality
nucleus accumbensUBERON:000188265.58gold quality
anterior cingulate cortexUBERON:000983563.40gold quality
cingulate cortexUBERON:000302763.37gold quality
spleenUBERON:000210662.70gold quality
adult organismUBERON:000702362.65gold quality
frontal cortexUBERON:000187062.61gold quality
dorsolateral prefrontal cortexUBERON:000983461.92gold quality
bone marrowUBERON:000237161.85gold quality
trabecular bone tissueUBERON:000248361.85silver quality
neocortexUBERON:000195061.67gold quality
right lobe of liverUBERON:000111461.62gold quality
liverUBERON:000210761.52gold quality
amygdalaUBERON:000187660.73gold quality
right frontal lobeUBERON:000281060.73gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.24
E-MTAB-7249no2.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting ANKRD55, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-3163100.0077.238605
HSA-MIR-186-5P99.9970.833707
HSA-MIR-480399.9871.993117
HSA-MIR-302E99.9670.742669
HSA-MIR-495-3P99.9672.814197
HSA-MIR-545-3P99.9570.742783
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-302A-3P99.8971.231777
HSA-MIR-302B-3P99.8971.231777
HSA-MIR-302C-3P99.8971.201778
HSA-MIR-302D-3P99.8971.251777
HSA-MIR-129-5P99.8870.263273
HSA-MIR-548AR-3P99.8571.263889
HSA-MIR-373-3P99.8470.681668
HSA-MIR-520E-3P99.8470.551698
HSA-MIR-520B-3P99.8370.561699
HSA-MIR-520C-3P99.8370.561699
HSA-MIR-372-3P99.8370.581691
HSA-MIR-520A-3P99.8370.591687
HSA-MIR-520D-3P99.8370.781676
HSA-MIR-548AZ-3P99.8270.563549
HSA-MIR-548BC99.8270.613524
HSA-MIR-548E-3P99.8270.593514
HSA-MIR-548F-3P99.8270.593540
HSA-MIR-520F-3P99.8271.321216
HSA-MIR-313399.8170.923506
HSA-MIR-548A-3P99.7670.583524
HSA-MIR-6885-3P99.7570.363187

Literature-anchored findings (GeneRIF, showing 9)

  • ANKRD55 and DHCR7 are novel multiple sclerosis risk loci. (PMID:22130326)
  • Performed a genome-wide significant association study of ANKRD55 rs6859219 and multiple sclerosis risk. Genotyped ANKRD55 rs6859219 in 5106 MS cases and 3740 healthy control subjects. (PMID:23315543)
  • ANKRD55 rs459193 and GRB14 rs13389219 associate with insulin resistance. (PMID:23457408)
  • The present study was conducted to shed light on the expression of ANKRD55 in the immune and nervous systems, to investigate the possible relationship of rs6859219 with ANKRD55 expression regulation, and to explore the relationship of ANKRD55 with Multiple Sclerosis. (PMID:27183579)
  • This is the first study to demonstrate a positive association between ANKRD55 polymorphism and dermatomyositis/polymyositis with interstitial lung disease (DM/PM)-ILD . A decreased frequency of rs7731626-A in DM-ILD and DM/PM-ILD patients suggests that the A variant may be protective against DM/PM-ILD. (PMID:28470010)
  • Interactome of the Autoimmune Risk Protein ANKRD55. (PMID:31620119)
  • Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population. (PMID:33491520)
  • Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation. (PMID:33536079)
  • Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55-IL6ST Gene Region in Immature Dendritic Cells. (PMID:35111166)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioankrd55ENSDARG00000099182
mus_musculusAnkrd55ENSMUSG00000049985
rattus_norvegicusAnkrd55ENSRNOG00000013555

Paralogs (3): ANKRD44 (ENSG00000065413), ANKRD52 (ENSG00000139645), ANKRD28 (ENSG00000206560)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 55Q3KP44 (reviewed: Q3KP44)

All UniProt accessions (3): Q3KP44, D6R9N4, D6RBD3

Isoforms (3)

UniProt IDNamesCanonical?
Q3KP44-11yes
Q3KP44-22
Q3KP44-33

RefSeq proteins (1): NP_078945* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002110Ankyrin_rptRepeat
IPR036770Ankyrin_rpt-contain_sfHomologous_superfamily

Pfam: PF00023, PF12796

UniProt features (22 total): repeat 9, region of interest 5, compositionally biased region 2, splice variant 2, sequence variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q3KP44-F163.430.45

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 (1): 475

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 203 (showing top): LEE_EARLY_T_LYMPHOCYTE_DN, LEIN_MIDBRAIN_MARKERS, LEIN_PONS_MARKERS, LEIN_MEDULLA_MARKERS, chr5q11, ZHENG_BOUND_BY_FOXP3, LEE_RECENT_THYMIC_EMIGRANT, AR_Q6, HUTTMANN_B_CLL_POOR_SURVIVAL_UP, RAO_BOUND_BY_SALL4_ISOFORM_B, IWANAGA_CARCINOGENESIS_BY_KRAS_PTEN_UP, GSE14699_NAIVE_VS_ACT_CD8_TCELL_DN, GSE13946_CTRL_VS_DSS_COLITIS_GD_TCELL_FROM_COLON_DN, GSE14415_FOXP3_KO_NATURAL_TREG_VS_TCONV_DN, GSE14415_NATURAL_TREG_VS_TCONV_UP

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:

CategoryTerms
binding1

Protein interactions and networks

STRING

1410 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ANKRD55ZNF626Q68DY1593
ANKRD55GRB14Q14449584
ANKRD55ARL15Q9NXU5581
ANKRD55PRTFDC1Q9NRG1570
ANKRD55MACIRQ96GV9548
ANKRD55LYPLAL1Q5VWZ2517
ANKRD55DENND4AQ7Z401487
ANKRD55AFF3P51826480
ANKRD55CCDC138Q96M89477
ANKRD55KLHL42Q9P2K6477
ANKRD55PTPN22Q9Y2R2475
ANKRD55ANTXR2P58335463
ANKRD55LRATD1Q96KN4455
ANKRD55PEPDP12955454
ANKRD55CLHC1Q8NHS4454

IntAct

71 interactions, top by confidence:

ABTypeScore
CIAO1ANKRD55psi-mi:“MI:0915”(physical association)0.560
FANCLANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55FHL5psi-mi:“MI:0915”(physical association)0.560
ANKRD55FANCLpsi-mi:“MI:0915”(physical association)0.560
HSF2BPANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55BACH2psi-mi:“MI:0915”(physical association)0.560
NCK2ANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55PFDN5psi-mi:“MI:0915”(physical association)0.560
ANKRD55ABI2psi-mi:“MI:0915”(physical association)0.560
HGSANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55NOXA1psi-mi:“MI:0915”(physical association)0.560
ANKRD55CABP5psi-mi:“MI:0915”(physical association)0.560
ANKRD55ZMYND19psi-mi:“MI:0915”(physical association)0.560
CLIC3ANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55TEKT4psi-mi:“MI:0915”(physical association)0.560
FHL2ANKRD55psi-mi:“MI:0915”(physical association)0.560
FRS3ANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55BANPpsi-mi:“MI:0915”(physical association)0.560
BOLA2-SMG1P6ANKRD55psi-mi:“MI:0915”(physical association)0.560
PTK6ANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55CFAP206psi-mi:“MI:0915”(physical association)0.560
ANKRD55ANKS1Apsi-mi:“MI:0915”(physical association)0.560
TRIM23ANKRD55psi-mi:“MI:0915”(physical association)0.560
ANKRD55ZSCAN1psi-mi:“MI:0915”(physical association)0.370
ANKRD55PTCHD1psi-mi:“MI:0915”(physical association)0.370

BioGRID (260): IFT46 (Affinity Capture-MS), TTC30B (Affinity Capture-MS), TTC30A (Affinity Capture-MS), IFT74 (Affinity Capture-MS), IFT52 (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), TRIP6 (Affinity Capture-MS), TTC30A (Affinity Capture-MS), IFT52 (Affinity Capture-MS), IFT46 (Affinity Capture-MS), IFT74 (Affinity Capture-MS), TTC30B (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), MIB1 (Affinity Capture-MS), YWHAG (Affinity Capture-MS)

ESM2 similar proteins: A2RRS8, A5PLL1, A6H694, B6D5P1, B6D5P3, B8A5Y1, F1MCA7, P0C6C1, P62046, P70587, Q05C16, Q06190, Q08AD1, Q3KP44, Q3KQW7, Q3U3V8, Q3UMB5, Q3UMG5, Q3UUF8, Q5DTV4, Q5PQ89, Q5RJ80, Q5SW75, Q5VUJ6, Q6GPJ8, Q6IE24, Q6IRU7, Q6P2D8, Q70EL1, Q76I76, Q80TE7, Q80TH2, Q8BL06, Q8BLB8, Q8BLD6, Q8BVU0, Q8C115, Q8IVE3, Q8K4P8, Q8TEV9

Diamond homologs: A2ARS0, B2RXR6, C7B178, C9JTQ0, P0C927, P19838, Q00PJ3, Q07E43, Q08353, Q21920, Q29RM5, Q2QL84, Q337A0, Q3KP44, Q3SX00, Q3UES3, Q3UUF8, Q4FE45, Q4JHE0, Q4V890, Q502K3, Q5R8C8, Q5ZLC8, Q60J38, Q6KAE5, Q6TNT2, Q76K24, Q7EZ44, Q86W74, Q86WC6, Q8BTI7, Q8BTZ5, Q8C0T1, Q8NB46, Q8VHS5, Q9BSK4, Q9D119, Q9H2K2, Q9N3Q8, Q9Z2G1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance86
Likely benign6
Benign1

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2424366NC_000005.9:g.(?52285299)(56189507_?)delPathogenic

SpliceAI

2486 predictions. Top by Δscore:

VariantEffectΔscore
5:56100300:TAGAA:Tacceptor_gain1.0000
5:56100301:AGAA:Aacceptor_gain1.0000
5:56100302:GAA:Gacceptor_gain1.0000
5:56100303:AA:Aacceptor_gain1.0000
5:56100304:AC:Aacceptor_loss1.0000
5:56100305:C:CAacceptor_loss1.0000
5:56100305:C:CCacceptor_gain1.0000
5:56100306:T:Gacceptor_loss1.0000
5:56116610:CTCA:Cdonor_loss1.0000
5:56116611:TCA:Tdonor_loss1.0000
5:56116612:CACCT:Cdonor_loss1.0000
5:56116613:A:ACdonor_gain1.0000
5:56116613:A:Tdonor_loss1.0000
5:56116614:C:CCdonor_gain1.0000
5:56116614:C:Tdonor_loss1.0000
5:56116614:CCTG:Cdonor_gain1.0000
5:56116792:CCA:Cacceptor_gain1.0000
5:56116793:CA:Cacceptor_gain1.0000
5:56116794:A:ACacceptor_gain1.0000
5:56116794:A:Cacceptor_gain1.0000
5:56116796:G:Cacceptor_gain1.0000
5:56143795:TCTCA:Tdonor_loss1.0000
5:56143796:CTCAC:Cdonor_loss1.0000
5:56143797:TCA:Tdonor_loss1.0000
5:56143798:CA:Cdonor_loss1.0000
5:56143799:ACCTG:Adonor_loss1.0000
5:56143800:C:CAdonor_loss1.0000
5:56159827:GCTCA:Gdonor_loss1.0000
5:56159828:CTCA:Cdonor_loss1.0000
5:56159830:CA:Cdonor_loss1.0000

AlphaMissense

4064 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:56170778:A:GL113P0.998
5:56176173:A:CS97R0.998
5:56176173:A:TS97R0.998
5:56176175:T:GS97R0.998
5:56176180:C:GR95P0.998
5:56176225:A:GL80P0.998
5:56176258:A:TV69D0.998
5:56176262:C:GA68P0.998
5:56183589:G:TA35D0.998
5:56176193:C:GD91H0.997
5:56176225:A:TL80Q0.997
5:56176228:A:GL79P0.997
5:56176273:G:TP64H0.997
5:56159841:C:GD159H0.996
5:56170727:G:CP130R0.996
5:56170775:A:GL114P0.996
5:56176192:T:AD91V0.996
5:56176225:A:CL80R0.996
5:56176261:G:TA68E0.996
5:56176273:G:CP64R0.996
5:56183565:A:GL43P0.996
5:56183580:C:AG38V0.996
5:56143868:A:GL182P0.995
5:56143908:C:GA169P0.995
5:56170778:A:TL113Q0.995
5:56176162:G:TA101D0.995
5:56176270:A:CL65W0.995
5:56176270:A:GL65S0.995
5:56183553:A:TI47N0.995
5:56143871:A:GL181P0.994

dbSNP variants (sampled 300 via entrez): RS1000000685 (5:56211743 G>C), RS1000044004 (5:56107760 C>T), RS1000051899 (5:56139280 C>T), RS1000062845 (5:56146284 C>A), RS1000063585 (5:56150832 G>A), RS1000077814 (5:56126033 T>C), RS1000096644 (5:56146543 A>C,T), RS1000129965 (5:56126203 A>G), RS1000145188 (5:56224729 C>A), RS1000153360 (5:56106652 G>A), RS1000158786 (5:56168472 T>C,G), RS1000162468 (5:56103934 T>C), RS1000212961 (5:56104265 C>T), RS1000223461 (5:56129057 A>G), RS1000237650 (5:56123195 G>A)

Disease associations

OMIM: gene MIM:615189 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

45 total (30 of 45 shown, HPO-id order):

HPOTerm
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000554Uveitis
HP:0000572Visual loss
HP:0000585Band keratopathy
HP:0001094Iridocyclitis
HP:0001155Abnormality of the hand
HP:0001369Arthritis
HP:0001370Rheumatoid arthritis
HP:0001371Flexion contracture
HP:0001382Joint hypermobility
HP:0001384Abnormal hip joint morphology
HP:0001386Joint swelling
HP:0001387Joint stiffness
HP:0001433Hepatosplenomegaly
HP:0001508Failure to thrive
HP:0001530Mild postnatal growth retardation
HP:0001785Ankle swelling
HP:0001824Weight loss
HP:0001832Abnormal metatarsal morphology
HP:0001903Anemia
HP:0002716Lymphadenopathy
HP:0002829Arthralgia
HP:0002960Autoimmunity
HP:0003019Abnormality of the wrist
HP:0003028Abnormality of the ankle
HP:0003043Abnormal shoulder morphology
HP:0003319Abnormality of the cervical spine
HP:0003326Myalgia
HP:0003493Antinuclear antibody positivity

GWAS associations

79 associations (top):

StudyTraitp-value
GCST000758_30Triglycerides1.000000e-10
GCST000987_2Celiac disease or Rheumatoid arthritis3.000000e-07
GCST001791_22Urate levels3.000000e-06
GCST001848_128IgG glycosylation2.000000e-06
GCST001848_135IgG glycosylation2.000000e-06
GCST001848_246IgG glycosylation3.000000e-10
GCST001848_34IgG glycosylation1.000000e-10
GCST001848_354IgG glycosylation4.000000e-06
GCST001848_43IgG glycosylation1.000000e-10
GCST001848_491IgG glycosylation1.000000e-10
GCST001848_50IgG glycosylation8.000000e-06
GCST001848_529IgG glycosylation7.000000e-11
GCST001848_650IgG glycosylation2.000000e-07
GCST001848_93IgG glycosylation2.000000e-09
GCST001915_8Alzheimer’s disease (cognitive decline)1.000000e-08
GCST002318_132Rheumatoid arthritis8.000000e-23
GCST002318_42Rheumatoid arthritis7.000000e-24
GCST002782_134Waist-to-hip ratio adjusted for body mass index2.000000e-11
GCST002782_135Waist-to-hip ratio adjusted for body mass index5.000000e-09
GCST002782_136Waist-to-hip ratio adjusted for body mass index5.000000e-12
GCST002782_34Waist-to-hip ratio adjusted for body mass index7.000000e-09
GCST003097_12Pediatric autoimmune diseases1.000000e-10
GCST003400_36Type 2 diabetes1.000000e-10
GCST003495_1Post-traumatic stress disorder6.000000e-08
GCST003566_11Multiple sclerosis8.000000e-09
GCST003619_10Type 2 diabetes3.000000e-09
GCST004132_99Crohn’s disease5.000000e-06
GCST004505_13Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)9.000000e-13
GCST004505_14Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)2.000000e-13
GCST004507_38Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)2.000000e-09

EFO canonical traits (14, from GWAS)

EFO IDTrait name
EFO:0004530triglyceride measurement
EFO:0004531urate measurement
EFO:0005193serum IgG glycosylation measurement
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0004318smoking behavior
EFO:0008002physical activity measurement
EFO:0005091monocyte count
EFO:0008007age at assessment
EFO:0008343sex interaction measurement
EFO:0004314forced expiratory volume
EFO:0006939cup-to-disc ratio measurement
EFO:0007986reticulocyte count
EFO:0007989monocyte percentage of leukocytes
EFO:0004533alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs160919ANKRD550.000

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
propionaldehydeincreases expression1
bisphenol Aaffects cotreatment, increases methylation1
butyraldehydeincreases expression1
pentanalincreases expression1
entinostatincreases expression1
Poly(amidoamine)increases expression1
bisphenol Sdecreases methylation1
(+)-JQ1 compounddecreases expression1
Venlafaxine Hydrochlorideincreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Aldehydesincreases expression1
Arsenicaffects methylation1
Vehicle Emissionsdecreases methylation1
Benzo(a)pyreneaffects methylation1
Estradiolaffects cotreatment, increases expression1
Malathionincreases expression1
Progesteroneaffects cotreatment, increases expression1
Silicon Dioxideincreases expression1
Urethanedecreases expression1
Valproic Acidincreases expression1

Clinical trials (associated diseases)

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