ANKRD55
geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:25681 |
| Approved symbol | ANKRD55 |
| Name | ankyrin repeat domain 55 |
| Location | 5q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11795 |
| Ensembl gene | ENSG00000164512 |
| Ensembl biotype | protein_coding |
| OMIM | 615189 |
| Entrez | 79722 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001378414 | 56170694 | 56170803 |
| ENSE00001379127 | 56126922 | 56127106 |
| ENSE00001383872 | 56176152 | 56176282 |
| ENSE00001408116 | 56233241 | 56233330 |
| ENSE00001415049 | 56099680 | 56100304 |
| ENSE00002090182 | 56111118 | 56111782 |
| ENSE00002139579 | 56102494 | 56102586 |
| ENSE00003509067 | 56183512 | 56183634 |
| ENSE00003562023 | 56159833 | 56159893 |
| ENSE00003629033 | 56232856 | 56232946 |
| ENSE00003678119 | 56116615 | 56116782 |
| ENSE00003683539 | 56143801 | 56143929 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 61733 | 0.5999 | 86 |
| 61730 | 0.4151 | 102 |
| 61734 | 0.2773 | 83 |
| 61731 | 0.0906 | 46 |
| 61729 | 0.0431 | 24 |
| 61735 | 0.0058 | 2 |
Top tissues by expression
273 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 | 85.26 | gold quality |
| sperm | CL:0000019 | 84.22 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.21 | gold quality |
| male germ cell | CL:0000015 | 82.06 | gold quality |
| blood | UBERON:0000178 | 77.80 | gold quality |
| lymph node | UBERON:0000029 | 72.77 | gold quality |
| leukocyte | CL:0000738 | 71.44 | gold quality |
| monocyte | CL:0000576 | 71.25 | gold quality |
| mononuclear cell | CL:0000842 | 71.20 | gold quality |
| granulocyte | CL:0000094 | 70.50 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.09 | gold quality |
| hypothalamus | UBERON:0001898 | 67.83 | gold quality |
| buccal mucosa cell | CL:0002336 | 67.32 | gold quality |
| testis | UBERON:0000473 | 66.13 | gold quality |
| left testis | UBERON:0004533 | 65.76 | gold quality |
| right testis | UBERON:0004534 | 65.63 | gold quality |
| nucleus accumbens | UBERON:0001882 | 65.58 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 63.40 | gold quality |
| cingulate cortex | UBERON:0003027 | 63.37 | gold quality |
| spleen | UBERON:0002106 | 62.70 | gold quality |
| adult organism | UBERON:0007023 | 62.65 | gold quality |
| frontal cortex | UBERON:0001870 | 62.61 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 61.92 | gold quality |
| bone marrow | UBERON:0002371 | 61.85 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 61.85 | silver quality |
| neocortex | UBERON:0001950 | 61.67 | gold quality |
| right lobe of liver | UBERON:0001114 | 61.62 | gold quality |
| liver | UBERON:0002107 | 61.52 | gold quality |
| amygdala | UBERON:0001876 | 60.73 | gold quality |
| right frontal lobe | UBERON:0002810 | 60.73 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.24 |
| E-MTAB-7249 | no | 2.94 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| 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 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520D-3P | 99.83 | 70.78 | 1676 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ankrd55 | ENSDARG00000099182 |
| mus_musculus | Ankrd55 | ENSMUSG00000049985 |
| rattus_norvegicus | Ankrd55 | ENSRNOG00000013555 |
Paralogs (3): ANKRD44 (ENSG00000065413), ANKRD52 (ENSG00000139645), ANKRD28 (ENSG00000206560)
Protein
Protein identifiers
Ankyrin repeat domain-containing protein 55 — Q3KP44 (reviewed: Q3KP44)
All UniProt accessions (3): Q3KP44, D6R9N4, D6RBD3
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q3KP44-1 | 1 | yes |
| Q3KP44-2 | 2 | |
| Q3KP44-3 | 3 |
RefSeq proteins (1): NP_078945* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3KP44-F1 | 63.43 | 0.45 |
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:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
1410 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANKRD55 | ZNF626 | Q68DY1 | 593 |
| ANKRD55 | GRB14 | Q14449 | 584 |
| ANKRD55 | ARL15 | Q9NXU5 | 581 |
| ANKRD55 | PRTFDC1 | Q9NRG1 | 570 |
| ANKRD55 | MACIR | Q96GV9 | 548 |
| ANKRD55 | LYPLAL1 | Q5VWZ2 | 517 |
| ANKRD55 | DENND4A | Q7Z401 | 487 |
| ANKRD55 | AFF3 | P51826 | 480 |
| ANKRD55 | CCDC138 | Q96M89 | 477 |
| ANKRD55 | KLHL42 | Q9P2K6 | 477 |
| ANKRD55 | PTPN22 | Q9Y2R2 | 475 |
| ANKRD55 | ANTXR2 | P58335 | 463 |
| ANKRD55 | LRATD1 | Q96KN4 | 455 |
| ANKRD55 | PEPD | P12955 | 454 |
| ANKRD55 | CLHC1 | Q8NHS4 | 454 |
IntAct
71 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CIAO1 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FANCL | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | FHL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | FANCL | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | BACH2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCK2 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | ABI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HGS | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | NOXA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | CABP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | ZMYND19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLIC3 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | TEKT4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL2 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRS3 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | BANP | psi-mi:“MI:0915”(physical association) | 0.560 |
| BOLA2-SMG1P6 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTK6 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | CFAP206 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | ANKS1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM23 | ANKRD55 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD55 | ZSCAN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ANKRD55 | PTCHD1 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2424366 | NC_000005.9:g.(?52285299)(56189507_?)del | Pathogenic |
SpliceAI
2486 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:56100300:TAGAA:T | acceptor_gain | 1.0000 |
| 5:56100301:AGAA:A | acceptor_gain | 1.0000 |
| 5:56100302:GAA:G | acceptor_gain | 1.0000 |
| 5:56100303:AA:A | acceptor_gain | 1.0000 |
| 5:56100304:AC:A | acceptor_loss | 1.0000 |
| 5:56100305:C:CA | acceptor_loss | 1.0000 |
| 5:56100305:C:CC | acceptor_gain | 1.0000 |
| 5:56100306:T:G | acceptor_loss | 1.0000 |
| 5:56116610:CTCA:C | donor_loss | 1.0000 |
| 5:56116611:TCA:T | donor_loss | 1.0000 |
| 5:56116612:CACCT:C | donor_loss | 1.0000 |
| 5:56116613:A:AC | donor_gain | 1.0000 |
| 5:56116613:A:T | donor_loss | 1.0000 |
| 5:56116614:C:CC | donor_gain | 1.0000 |
| 5:56116614:C:T | donor_loss | 1.0000 |
| 5:56116614:CCTG:C | donor_gain | 1.0000 |
| 5:56116792:CCA:C | acceptor_gain | 1.0000 |
| 5:56116793:CA:C | acceptor_gain | 1.0000 |
| 5:56116794:A:AC | acceptor_gain | 1.0000 |
| 5:56116794:A:C | acceptor_gain | 1.0000 |
| 5:56116796:G:C | acceptor_gain | 1.0000 |
| 5:56143795:TCTCA:T | donor_loss | 1.0000 |
| 5:56143796:CTCAC:C | donor_loss | 1.0000 |
| 5:56143797:TCA:T | donor_loss | 1.0000 |
| 5:56143798:CA:C | donor_loss | 1.0000 |
| 5:56143799:ACCTG:A | donor_loss | 1.0000 |
| 5:56143800:C:CA | donor_loss | 1.0000 |
| 5:56159827:GCTCA:G | donor_loss | 1.0000 |
| 5:56159828:CTCA:C | donor_loss | 1.0000 |
| 5:56159830:CA:C | donor_loss | 1.0000 |
AlphaMissense
4064 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:56170778:A:G | L113P | 0.998 |
| 5:56176173:A:C | S97R | 0.998 |
| 5:56176173:A:T | S97R | 0.998 |
| 5:56176175:T:G | S97R | 0.998 |
| 5:56176180:C:G | R95P | 0.998 |
| 5:56176225:A:G | L80P | 0.998 |
| 5:56176258:A:T | V69D | 0.998 |
| 5:56176262:C:G | A68P | 0.998 |
| 5:56183589:G:T | A35D | 0.998 |
| 5:56176193:C:G | D91H | 0.997 |
| 5:56176225:A:T | L80Q | 0.997 |
| 5:56176228:A:G | L79P | 0.997 |
| 5:56176273:G:T | P64H | 0.997 |
| 5:56159841:C:G | D159H | 0.996 |
| 5:56170727:G:C | P130R | 0.996 |
| 5:56170775:A:G | L114P | 0.996 |
| 5:56176192:T:A | D91V | 0.996 |
| 5:56176225:A:C | L80R | 0.996 |
| 5:56176261:G:T | A68E | 0.996 |
| 5:56176273:G:C | P64R | 0.996 |
| 5:56183565:A:G | L43P | 0.996 |
| 5:56183580:C:A | G38V | 0.996 |
| 5:56143868:A:G | L182P | 0.995 |
| 5:56143908:C:G | A169P | 0.995 |
| 5:56170778:A:T | L113Q | 0.995 |
| 5:56176162:G:T | A101D | 0.995 |
| 5:56176270:A:C | L65W | 0.995 |
| 5:56176270:A:G | L65S | 0.995 |
| 5:56183553:A:T | I47N | 0.995 |
| 5:56143871:A:G | L181P | 0.994 |
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):
| HPO | Term |
|---|---|
| HP:0000501 | Glaucoma |
| HP:0000518 | Cataract |
| HP:0000554 | Uveitis |
| HP:0000572 | Visual loss |
| HP:0000585 | Band keratopathy |
| HP:0001094 | Iridocyclitis |
| HP:0001155 | Abnormality of the hand |
| HP:0001369 | Arthritis |
| HP:0001370 | Rheumatoid arthritis |
| HP:0001371 | Flexion contracture |
| HP:0001382 | Joint hypermobility |
| HP:0001384 | Abnormal hip joint morphology |
| HP:0001386 | Joint swelling |
| HP:0001387 | Joint stiffness |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| HP:0001530 | Mild postnatal growth retardation |
| HP:0001785 | Ankle swelling |
| HP:0001824 | Weight loss |
| HP:0001832 | Abnormal metatarsal morphology |
| HP:0001903 | Anemia |
| HP:0002716 | Lymphadenopathy |
| HP:0002829 | Arthralgia |
| HP:0002960 | Autoimmunity |
| HP:0003019 | Abnormality of the wrist |
| HP:0003028 | Abnormality of the ankle |
| HP:0003043 | Abnormal shoulder morphology |
| HP:0003319 | Abnormality of the cervical spine |
| HP:0003326 | Myalgia |
| HP:0003493 | Antinuclear antibody positivity |
GWAS associations
79 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000758_30 | Triglycerides | 1.000000e-10 |
| GCST000987_2 | Celiac disease or Rheumatoid arthritis | 3.000000e-07 |
| GCST001791_22 | Urate levels | 3.000000e-06 |
| GCST001848_128 | IgG glycosylation | 2.000000e-06 |
| GCST001848_135 | IgG glycosylation | 2.000000e-06 |
| GCST001848_246 | IgG glycosylation | 3.000000e-10 |
| GCST001848_34 | IgG glycosylation | 1.000000e-10 |
| GCST001848_354 | IgG glycosylation | 4.000000e-06 |
| GCST001848_43 | IgG glycosylation | 1.000000e-10 |
| GCST001848_491 | IgG glycosylation | 1.000000e-10 |
| GCST001848_50 | IgG glycosylation | 8.000000e-06 |
| GCST001848_529 | IgG glycosylation | 7.000000e-11 |
| GCST001848_650 | IgG glycosylation | 2.000000e-07 |
| GCST001848_93 | IgG glycosylation | 2.000000e-09 |
| GCST001915_8 | Alzheimer’s disease (cognitive decline) | 1.000000e-08 |
| GCST002318_132 | Rheumatoid arthritis | 8.000000e-23 |
| GCST002318_42 | Rheumatoid arthritis | 7.000000e-24 |
| GCST002782_134 | Waist-to-hip ratio adjusted for body mass index | 2.000000e-11 |
| GCST002782_135 | Waist-to-hip ratio adjusted for body mass index | 5.000000e-09 |
| GCST002782_136 | Waist-to-hip ratio adjusted for body mass index | 5.000000e-12 |
| GCST002782_34 | Waist-to-hip ratio adjusted for body mass index | 7.000000e-09 |
| GCST003097_12 | Pediatric autoimmune diseases | 1.000000e-10 |
| GCST003400_36 | Type 2 diabetes | 1.000000e-10 |
| GCST003495_1 | Post-traumatic stress disorder | 6.000000e-08 |
| GCST003566_11 | Multiple sclerosis | 8.000000e-09 |
| GCST003619_10 | Type 2 diabetes | 3.000000e-09 |
| GCST004132_99 | Crohn’s disease | 5.000000e-06 |
| GCST004505_13 | Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) | 9.000000e-13 |
| GCST004505_14 | Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) | 2.000000e-13 |
| GCST004507_38 | Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) | 2.000000e-09 |
EFO canonical traits (14, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004531 | urate measurement |
| EFO:0005193 | serum IgG glycosylation measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0005091 | monocyte count |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs160919 | ANKRD55 | 0.00 | 0 |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| pentanal | increases expression | 1 |
| entinostat | increases expression | 1 |
| Poly(amidoamine) | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Venlafaxine Hydrochloride | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Aldehydes | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | decreases methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Malathion | increases expression | 1 |
| Progesterone | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autoimmune disease, autoimmune thyroid disease, common variable immunodeficiency, immune system disorder, juvenile idiopathic arthritis, oligoarticular juvenile idiopathic arthritis, post-traumatic stress disorder, rheumatoid factor-negative juvenile idiopathic arthritis, systemic-onset juvenile idiopathic arthritis