ANKRD44
geneOn this page
Also known as PP6-ARS-B
Summary
ANKRD44 (ankyrin repeat domain 44, HGNC:25259) is a protein-coding gene on chromosome 2q33.1, encoding Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B (Q8N8A2). Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 156 total — 7 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001195144
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25259 |
| Approved symbol | ANKRD44 |
| Name | ankyrin repeat domain 44 |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PP6-ARS-B |
| Ensembl gene | ENSG00000065413 |
| Ensembl biotype | protein_coding |
| OMIM | 620861 |
| Entrez | 91526 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000282272, ENST00000328737, ENST00000409153, ENST00000409919, ENST00000422886, ENST00000424317, ENST00000443014, ENST00000447713, ENST00000463879, ENST00000473081, ENST00000477852, ENST00000486006, ENST00000647377, ENST00000871701
RefSeq mRNA: 5 — MANE Select: NM_001195144
NM_001195144, NM_001367495, NM_001367496, NM_001367497, NM_153697
CCDS: CCDS33355, CCDS74619, CCDS92920
Canonical transcript exons
ENST00000282272 — 28 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001700541 | 196986662 | 196989649 |
| ENSE00003795682 | 197310578 | 197310780 |
| ENSE00003801238 | 196995379 | 196995461 |
| ENSE00003801352 | 197008944 | 197009031 |
| ENSE00003801758 | 197081645 | 197081725 |
| ENSE00003802097 | 197125837 | 197126037 |
| ENSE00003803379 | 197110766 | 197110844 |
| ENSE00003803555 | 197086680 | 197086748 |
| ENSE00003804682 | 197121332 | 197121544 |
| ENSE00003805035 | 197005694 | 197005910 |
| ENSE00003805191 | 197083369 | 197083509 |
| ENSE00003805328 | 197078703 | 197078814 |
| ENSE00003805439 | 197001753 | 197001840 |
| ENSE00003806807 | 197136592 | 197136662 |
| ENSE00003808023 | 196993583 | 196993674 |
| ENSE00003808060 | 197088711 | 197088774 |
| ENSE00003809168 | 196998337 | 196998419 |
| ENSE00003809427 | 197000419 | 197000502 |
| ENSE00003809535 | 197007806 | 197007923 |
| ENSE00003810210 | 197099816 | 197099930 |
| ENSE00003810251 | 196998907 | 196999052 |
| ENSE00003810298 | 197013511 | 197013712 |
| ENSE00003810373 | 197025196 | 197025267 |
| ENSE00003810618 | 197187023 | 197187106 |
| ENSE00003810691 | 197089950 | 197090032 |
| ENSE00003810828 | 197147027 | 197147105 |
| ENSE00003811241 | 197125381 | 197125468 |
| ENSE00003811307 | 197122650 | 197122792 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 97.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8023 / max 443.4716, expressed in 1322 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33064 | 7.7540 | 821 |
| 33063 | 4.0174 | 939 |
| 33066 | 1.6520 | 479 |
| 33065 | 1.1783 | 344 |
| 202527 | 0.1302 | 61 |
| 33060 | 0.0703 | 31 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.09 | gold quality |
| leukocyte | CL:0000738 | 96.80 | gold quality |
| bone marrow cell | CL:0002092 | 95.50 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 95.13 | gold quality |
| blood | UBERON:0000178 | 94.90 | gold quality |
| thymus | UBERON:0002370 | 94.51 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.16 | gold quality |
| lymph node | UBERON:0000029 | 94.02 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.93 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.87 | gold quality |
| visceral pleura | UBERON:0002401 | 93.66 | gold quality |
| corpus callosum | UBERON:0002336 | 92.73 | gold quality |
| bone marrow | UBERON:0002371 | 92.21 | gold quality |
| tonsil | UBERON:0002372 | 91.75 | gold quality |
| right coronary artery | UBERON:0001625 | 91.31 | gold quality |
| granulocyte | CL:0000094 | 90.97 | gold quality |
| caecum | UBERON:0001153 | 90.73 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.53 | gold quality |
| sural nerve | UBERON:0015488 | 90.24 | gold quality |
| right lung | UBERON:0002167 | 89.89 | gold quality |
| lower lobe of lung | UBERON:0008949 | 89.77 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.46 | gold quality |
| spleen | UBERON:0002106 | 89.39 | gold quality |
| lung | UBERON:0002048 | 89.35 | gold quality |
| amniotic fluid | UBERON:0000173 | 89.29 | gold quality |
| parietal pleura | UBERON:0002400 | 89.23 | gold quality |
| cortical plate | UBERON:0005343 | 89.10 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 89.07 | gold quality |
| lower esophagus | UBERON:0013473 | 88.99 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 88.74 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 4073.04 |
| E-GEOD-131882 | yes | 1496.83 |
| E-GEOD-180759 | yes | 1358.26 |
| E-CURD-119 | yes | 1015.60 |
| E-MTAB-11268 | yes | 667.78 |
| E-HCAD-35 | yes | 37.44 |
| E-MTAB-6678 | yes | 34.80 |
| E-ANND-3 | yes | 23.54 |
| E-CURD-122 | yes | 21.10 |
| E-HCAD-25 | yes | 18.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting ANKRD44, 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-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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-10522-5P | 99.26 | 68.50 | 2087 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-619-3P | 98.38 | 65.58 | 693 |
| HSA-MIR-490-3P | 97.79 | 65.54 | 606 |
| HSA-MIR-127-5P | 97.78 | 67.64 | 869 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-3152-5P | 96.98 | 66.88 | 819 |
| HSA-MIR-4471 | 95.11 | 66.84 | 755 |
| HSA-MIR-8059 | 95.11 | 66.30 | 646 |
| HSA-MIR-4301 | 95.00 | 65.22 | 554 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ankrd44 | ENSDARG00000026028 |
| mus_musculus | Ankrd44 | ENSMUSG00000052331 |
| rattus_norvegicus | Ankrd44 | ENSRNOG00000021384 |
Paralogs (3): ANKRD52 (ENSG00000139645), ANKRD55 (ENSG00000164512), ANKRD28 (ENSG00000206560)
Protein
Protein identifiers
Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B — Q8N8A2 (reviewed: Q8N8A2)
Alternative names: Ankyrin repeat domain-containing protein 44
All UniProt accessions (6): Q8N8A2, A0A2R8Y7Y4, C9JY51, F8WBW3, H7C209, H7C4A0
UniProt curated annotations — full annotation on UniProt →
Function. Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.
Subunit / interactions. Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6R1.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N8A2-1 | 1 | yes |
| Q8N8A2-2 | 2 | |
| Q8N8A2-3 | 3 | |
| Q8N8A2-4 | 4 | |
| Q8N8A2-5 | 5 |
RefSeq proteins (5): NP_001182073, NP_001354424, NP_001354425, NP_001354426, NP_710181 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
Pfam: PF00023, PF12796, PF13637
UniProt features (40 total): repeat 28, splice variant 7, sequence conflict 4, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8A2-F1 | 90.57 | 0.80 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 243 (showing top):
ZHAN_MULTIPLE_MYELOMA_PR_DN, GATA1_02, BERNARD_PPAPDC1B_TARGETS_UP, ZHENG_BOUND_BY_FOXP3, ZHENG_FOXP3_TARGETS_IN_T_LYMPHOCYTE_DN, PASQUALUCCI_LYMPHOMA_BY_GC_STAGE_DN, WANG_SMARCE1_TARGETS_UP, MODULE_358, JOHNSTONE_PARVB_TARGETS_3_DN, MODULE_525, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, KATSANOU_ELAVL1_TARGETS_UP, GCNP_SHH_UP_EARLY.V1_DN, WINTER_HYPOXIA_DN, HMGA1_TARGET_GENES
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
1518 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANKRD44 | PPP6R1 | Q9UPN7 | 774 |
| ANKRD44 | PPP6R2 | O75170 | 713 |
| ANKRD44 | PPP6R3 | Q5H9R7 | 695 |
| ANKRD44 | PPP6C | O00743 | 688 |
| ANKRD44 | RFTN2 | Q52LD8 | 479 |
| ANKRD44 | OR6C74 | A6NCV1 | 418 |
| ANKRD44 | PLCL1 | Q15111 | 379 |
| ANKRD44 | ANKRD28 | O15084 | 364 |
| ANKRD44 | ANKRD52 | Q8NB46 | 360 |
| ANKRD44 | C7orf57 | Q8NEG2 | 353 |
| ANKRD44 | ZNF223 | Q9UK11 | 348 |
| ANKRD44 | BOLL | Q8N9W6 | 339 |
| ANKRD44 | TPPP2 | P59282 | 318 |
| ANKRD44 | FGD6 | Q6ZV73 | 314 |
| ANKRD44 | OR10J5 | Q8NHC4 | 314 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP6R1 | PPP6C | psi-mi:“MI:0914”(association) | 0.920 |
| PPP6C | ANKRD28 | psi-mi:“MI:0914”(association) | 0.870 |
| ANKRD28 | PPP6C | psi-mi:“MI:0914”(association) | 0.870 |
| PPP6R1 | ANKRD44 | psi-mi:“MI:0914”(association) | 0.800 |
| ANKRD44 | PPP6C | psi-mi:“MI:0914”(association) | 0.790 |
| ANKRD44 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.710 |
| ANKRD44 | WWP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| WWP2 | ANKRD44 | psi-mi:“MI:0915”(physical association) | 0.670 |
| USP10 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.610 |
| ANKRD44 | USP6 | psi-mi:“MI:0407”(direct interaction) | 0.570 |
| ANKRD44 | USP6 | psi-mi:“MI:0915”(physical association) | 0.570 |
| ANKRD44 | USP6 | psi-mi:“MI:0403”(colocalization) | 0.570 |
| SDCBP | TARS3 | psi-mi:“MI:0914”(association) | 0.530 |
| MOB1A | PPP6C | psi-mi:“MI:2364”(proximity) | 0.420 |
| Ppp6r3 | PPP6C | psi-mi:“MI:2364”(proximity) | 0.420 |
| KRTAP4-12 | ANKRD44 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ANKRD44 | USP6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ANKRD44 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Ppp6r1 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| Ppp6c | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF48 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.350 |
| PLK1 | ERCC6L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (97): ANKRD44 (Two-hybrid), ANKRD44 (Affinity Capture-RNA), ANKRD28 (Affinity Capture-MS), NOTCH1 (Affinity Capture-MS), NOTCH2 (Affinity Capture-MS), NOTCH3 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R3 (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), MTCL1 (Affinity Capture-MS), PPP6C (Affinity Capture-MS), CDKN2C (Affinity Capture-MS), ANKRD44 (Affinity Capture-MS)
ESM2 similar proteins: A2AS55, B2RXR6, O15084, O75832, P0C927, Q08DV6, Q0P5B9, Q29RM5, Q2TB02, Q3SX45, Q495B1, Q499M5, Q4V890, Q502K3, Q505D1, Q53RE8, Q5F478, Q5RFS1, Q5U2S6, Q5ZLC8, Q6GPE5, Q6P6B7, Q6P9Z4, Q70X92, Q7T3P8, Q810B6, Q8BTI7, Q8C0T1, Q8C6Y6, Q8K0L0, Q8N8A2, Q8NB46, Q8NI38, Q8WXH4, Q91ZT8, Q96AX9, Q96DX5, Q96NS5, Q96Q27, Q9BSK4
Diamond homologs: A2AQH4, A2AS55, A6QR20, O04251, O75762, O90760, P25963, Q10311, Q1RJM6, Q24145, Q499M5, Q4JHE0, Q5H9F3, Q6RI86, Q70X92, Q86WC6, Q8BLA8, Q8N8A2, Q8R3P9, Q9BQI6, Q9J4Z4, Q9WV72, Q9Y575, Q9Z2F6, A2ARS0, B2RXR6, C9JTQ0, L7XCU0, L7XDS4, O15084, O89019, P25799, Q00653, Q18297, Q2TB02, Q3EC11, Q3KP44, Q3SX00, Q4ULZ2, Q502K3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
156 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 1 |
| Uncertain significance | 126 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 154446 | GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1 | Pathogenic |
| 253668 | GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1 | Pathogenic |
| 394652 | GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1 | Pathogenic |
| 562673 | GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1 | Pathogenic |
| 562676 | GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 | Pathogenic |
| 57395 | GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1 | Pathogenic |
| 689171 | GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1 | Pathogenic |
| 3067112 | NM_001195144.2(ANKRD44):c.1317-1308T>C | Likely pathogenic |
SpliceAI
6283 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:196992772:C:CC | donor_gain | 1.0000 |
| 2:196993672:GGT:G | acceptor_gain | 1.0000 |
| 2:196993673:GTC:G | acceptor_loss | 1.0000 |
| 2:196993674:TC:T | acceptor_loss | 1.0000 |
| 2:196993675:C:CC | acceptor_gain | 1.0000 |
| 2:196995377:A:AC | donor_gain | 1.0000 |
| 2:196995378:C:CC | donor_gain | 1.0000 |
| 2:196995378:CGT:C | donor_gain | 1.0000 |
| 2:196998075:C:CT | donor_gain | 1.0000 |
| 2:196998076:T:TT | donor_gain | 1.0000 |
| 2:196998116:T:TA | donor_gain | 1.0000 |
| 2:196998332:CATA:C | donor_gain | 1.0000 |
| 2:196998335:A:AC | donor_gain | 1.0000 |
| 2:196998336:C:CC | donor_gain | 1.0000 |
| 2:196998336:CTTTA:C | donor_gain | 1.0000 |
| 2:196998337:TTTAC:T | donor_gain | 1.0000 |
| 2:196998338:TTACT:T | donor_gain | 1.0000 |
| 2:196998341:C:CT | donor_gain | 1.0000 |
| 2:196998342:T:TT | donor_gain | 1.0000 |
| 2:196998376:AT:A | donor_gain | 1.0000 |
| 2:196998377:T:C | donor_gain | 1.0000 |
| 2:196998902:CATA:C | donor_loss | 1.0000 |
| 2:196998903:ATAC:A | donor_loss | 1.0000 |
| 2:196998905:A:AC | donor_gain | 1.0000 |
| 2:196998905:AC:A | donor_gain | 1.0000 |
| 2:196998906:C:CC | donor_gain | 1.0000 |
| 2:196998906:C:CT | donor_loss | 1.0000 |
| 2:196998906:CC:C | donor_gain | 1.0000 |
| 2:196998906:CCCA:C | donor_gain | 1.0000 |
| 2:196998956:C:A | donor_gain | 1.0000 |
AlphaMissense
6551 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:197013579:A:G | L619P | 1.000 |
| 2:197099879:G:T | A346D | 1.000 |
| 2:197110794:G:C | F319L | 1.000 |
| 2:197110794:G:T | F319L | 1.000 |
| 2:197110796:A:G | F319L | 1.000 |
| 2:197110801:C:A | G317V | 1.000 |
| 2:197110801:C:T | G317E | 1.000 |
| 2:197110810:G:T | A314D | 1.000 |
| 2:197125871:G:T | A143D | 1.000 |
| 2:197125877:C:G | R141P | 1.000 |
| 2:197125880:C:T | G140E | 1.000 |
| 2:197125886:C:G | R138P | 1.000 |
| 2:197125889:T:A | D137V | 1.000 |
| 2:197125890:C:A | D137Y | 1.000 |
| 2:197125890:C:G | D137H | 1.000 |
| 2:197125970:G:C | P110R | 1.000 |
| 2:197125970:G:T | P110H | 1.000 |
| 2:197125978:C:A | W107C | 1.000 |
| 2:197125978:C:G | W107C | 1.000 |
| 2:197125980:A:G | W107R | 1.000 |
| 2:197125980:A:T | W107R | 1.000 |
| 2:197125988:T:A | D104V | 1.000 |
| 2:197125989:C:G | D104H | 1.000 |
| 2:197125990:C:A | R103S | 1.000 |
| 2:197125990:C:G | R103S | 1.000 |
| 2:197125991:C:A | R103M | 1.000 |
| 2:197125991:C:G | R103T | 1.000 |
| 2:197126006:G:T | A98D | 1.000 |
| 2:197126021:A:G | L93S | 1.000 |
| 2:197136614:C:G | R80P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000003559 (2:197291399 A>G,T), RS1000005099 (2:197073567 C>T), RS1000005430 (2:197028758 G>A), RS1000014166 (2:197248016 C>G), RS1000016250 (2:197038186 T>C), RS1000031658 (2:197209422 G>A), RS1000048374 (2:197118635 G>A,C), RS1000048628 (2:197031258 C>T), RS1000066462 (2:197247655 T>C), RS1000080452 (2:197135930 C>T), RS1000083372 (2:197209644 T>C), RS1000095962 (2:197163832 T>C), RS1000106460 (2:196977563 A>T), RS1000114604 (2:197079981 A>C), RS1000120053 (2:197305248 G>A)
Disease associations
OMIM: gene MIM:620861 | disease phenotypes: MIM:617268
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder with hypotonia, seizures, and absent language (MONDO:0014995)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_41 | Schizophrenia | 2.000000e-11 |
| GCST002666_1 | Interferon alpha levels in systemic lupus erythematosus | 1.000000e-06 |
| GCST002666_8 | Interferon alpha levels in systemic lupus erythematosus | 5.000000e-06 |
| GCST003683_4 | Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) | 5.000000e-08 |
| GCST004521_180 | Autism spectrum disorder or schizophrenia | 3.000000e-11 |
| GCST006803_21 | Schizophrenia | 4.000000e-13 |
| GCST007565_1 | Morning person | 8.000000e-21 |
| GCST010698_25 | Subcortical volume (min-P) | 2.000000e-08 |
| GCST010699_24 | Brain morphology (min-P) | 1.000000e-09 |
| GCST010700_25 | Cortical thickness (MOSTest) | 2.000000e-10 |
| GCST010701_25 | Cortical surface area (MOSTest) | 2.000000e-37 |
| GCST010702_65 | Subcortical volume (MOSTest) | 1.000000e-11 |
| GCST010703_197 | Brain morphology (MOSTest) | 1.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006517 | interferon alpha measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105772 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 7 |
| sodium arsenite | increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | affects methylation | 1 |
| lead acetate | increases expression | 1 |
| arsenite | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Methotrexate | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4012572 | Binding | Binding affinity to serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SC56 | HAP1 ANKRD44 (-) 1 | Cancer cell line | Male |
| CVCL_SC57 | HAP1 ANKRD44 (-) 2 | Cancer cell line | Male |
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): abdominal aortic aneurysm, brain aneurysm, neurodevelopmental disorder with hypotonia, seizures, and absent language, thoracic aortic aneurysm