ANKHD1

Summary

ANKHD1 (ankyrin repeat and KH domain containing 1, HGNC:24714) is a protein-coding gene on chromosome 5q31.3, encoding Ankyrin repeat and KH domain-containing protein 1 (Q8IWZ3). May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells.

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments.

Source: NCBI Gene 54882 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 34 total — 2 pathogenic
• MANE Select transcript: NM_017747

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24714
Approved symbol	ANKHD1
Name	ankyrin repeat and KH domain containing 1
Location	5q31.3
Locus type	gene with protein product
Status	Approved
Aliases	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085, MASK1
Ensembl gene	ENSG00000131503
Ensembl biotype	protein_coding
OMIM	610500
Entrez	54882

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 17 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000246149, ENST00000360839, ENST00000394722, ENST00000394723, ENST00000412116, ENST00000421134, ENST00000421706, ENST00000431508, ENST00000432301, ENST00000433049, ENST00000435794, ENST00000462121, ENST00000465435, ENST00000475148, ENST00000490185, ENST00000495578, ENST00000506755, ENST00000506930, ENST00000511151, ENST00000616482, ENST00000907941, ENST00000936090, ENST00000936091, ENST00000936092

RefSeq mRNA: 4 — MANE Select: NM_017747 NM_001197030, NM_017747, NM_017978, NM_024668

CCDS: CCDS4225, CCDS43371, CCDS43372, CCDS75319

Canonical transcript exons

ENST00000360839 — 34 exons

Exon	Start	End
ENSE00001607602	140539359	140539849
ENSE00003460708	140505122	140505233
ENSE00003535793	140526928	140527074
ENSE00003552138	140505724	140505869
ENSE00003552897	140528184	140529796
ENSE00003618182	140527873	140528022
ENSE00003623162	140537389	140537589
ENSE00003627910	140535362	140535538
ENSE00003634578	140538919	140539083
ENSE00003642925	140525996	140526443
ENSE00003665100	140506835	140506977
ENSE00003689125	140538086	140538261
ENSE00003690213	140459164	140459355
ENSE00003712544	140449211	140449305
ENSE00003713620	140504821	140504966
ENSE00003717597	140436104	140436257
ENSE00003718383	140485589	140485732
ENSE00003720065	140445742	140445975
ENSE00003720667	140440995	140441142
ENSE00003720915	140509637	140509812
ENSE00003725218	140496520	140497278
ENSE00003726269	140464667	140464776
ENSE00003728248	140458625	140458862
ENSE00003728667	140438461	140438617
ENSE00003728732	140512828	140512923
ENSE00003735404	140513363	140513479
ENSE00003740985	140482580	140482667
ENSE00003742240	140440119	140440266
ENSE00003743727	140507785	140507998
ENSE00003745913	140524066	140524240
ENSE00003749985	140485121	140485248
ENSE00003751419	140510019	140510181
ENSE00003754664	140486958	140487060
ENSE00003842040	140401833	140402273

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 97.84.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0310 / max 488.4674, expressed in 782 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58898	29.1088	1815
58899	14.0850	1780
58905	1.0454	474
58904	0.9857	347

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	97.84	gold quality
bone marrow cell	CL:0002092	97.78	gold quality
body of pancreas	UBERON:0001150	97.22	gold quality
colonic epithelium	UBERON:0000397	96.90	gold quality
mucosa of stomach	UBERON:0001199	96.84	gold quality
ventricular zone	UBERON:0003053	96.84	gold quality
skin of abdomen	UBERON:0001416	96.82	gold quality
right lobe of thyroid gland	UBERON:0001119	96.75	gold quality
left ovary	UBERON:0002119	96.75	gold quality
right ovary	UBERON:0002118	96.68	gold quality
left lobe of thyroid gland	UBERON:0001120	96.66	gold quality
ectocervix	UBERON:0012249	96.61	gold quality
skin of leg	UBERON:0001511	96.55	gold quality
right uterine tube	UBERON:0001302	96.53	gold quality
endocervix	UBERON:0000458	96.42	gold quality
calcaneal tendon	UBERON:0003701	96.29	gold quality
body of uterus	UBERON:0009853	96.28	gold quality
tibial nerve	UBERON:0001323	96.19	gold quality
minor salivary gland	UBERON:0001830	96.17	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.12	gold quality
vermiform appendix	UBERON:0001154	95.99	gold quality
right lung	UBERON:0002167	95.77	gold quality
monocyte	CL:0000576	95.74	gold quality
rectum	UBERON:0001052	95.74	gold quality
adenohypophysis	UBERON:0002196	95.71	gold quality
upper lobe of left lung	UBERON:0008952	95.71	gold quality
leukocyte	CL:0000738	95.69	gold quality
metanephros cortex	UBERON:0010533	95.69	gold quality
left uterine tube	UBERON:0001303	95.53	gold quality
transverse colon	UBERON:0001157	95.45	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.27
E-CURD-135	no	767.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

53 targeting ANKHD1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-12124	99.68	69.17	2700

Literature-anchored findings (GeneRIF, showing 14)

• VBARP is a novel splice variant of ANKHD1 and may play a role in cellular apoptosis (antiapoptotic) and cell survival pathway(s (PMID:16098192)
• identification of new splice variant with upregulation of its mRNA considerably higher than other variants during erythroid differentiation (PMID:16297570)
• These findings suggest a role for ANKHD1 as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. (PMID:16956752)
• These data suggest that ANKHD1 might have a role in multiple myeloma cell proliferation and cell cycle progression by regulating expression of p21. (PMID:23142581)
• ANKHD1 is a positive regulator of YAP1 and promotes cell growth and cell cycle progression through Cyclin A upregulation. (PMID:24726915)
• Data suggest an association of ANKHD1 (Ankyrin repeat and KH domain-containing protein 1) protein with p21 (WAF1/CIP1) promoter region. (PMID:25483783)
• ANKHD1 may be an oncogene and participate in the leukemia cell phenotype. (PMID:25523139)
• High ANKHD1 expression is associated with renal cancer. (PMID:29695508)
• we identified ANKHD1 as a co-regulator with SMYD3. We provided evidence that SMYD3 transactivates its target genes and promotes HCC cells migration and invasion through ANKHD1. (PMID:30646949)
• ANKHD1 promotes proliferation and invasion of nonsmallcell lung cancer cells via regulating YAP oncoprotein expression and inactivating the Hippo pathway. (PMID:32319569)
• ANKHD1 is an S phase protein required for histone synthesis and DNA repair in multiple myeloma cells. (PMID:32562952)
• Emerging functions for ANKHD1 in cancer-related signaling pathways and cellular processes. (PMID:32635985)
• The feedback loop of ANKHD1/lncRNA MALAT1/YAP1 strengthens the radioresistance of CRC by activating YAP1/AKT signaling. (PMID:35110552)
• Evaluating the Molecular Properties and Function of ANKHD1, and Its Role in Cancer. (PMID:37629022)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankhd1	ENSDARG00000077860
mus_musculus	Ankhd1	ENSMUSG00000024483
rattus_norvegicus	Ankhd1	ENSRNOG00000071292

Paralogs (1): ANKRD17 (ENSG00000132466)

Protein

Protein identifiers

Ankyrin repeat and KH domain-containing protein 1 — Q8IWZ3 (reviewed: Q8IWZ3)

Alternative names: HIV-1 Vpr-binding ankyrin repeat protein, Multiple ankyrin repeats single KH domain

All UniProt accessions (10): D6RHC4, E9PDP5, Q8IWZ3, H0Y472, H0Y4P6, H0Y785, H0Y7Y3, H3BLS9, H7C2E1, H7C2F5

UniProt curated annotations — full annotation on UniProt →

Function. May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.

Subunit / interactions. Interacts with PTPN11. Isoform 2 interacts with HIV-1 VPR. Interacts with NOD2.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitous with high expression in cervix, spleen and brain. Expressed in hematopoietic cells with increased expression in leukemia cells. Isoform 2 is highly expressed in spleen with almost no expression in muscle and brain.

Similarity. Belongs to the mask family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q8IWZ3-1	1	yes
Q8IWZ3-2	2, VBARP-L
Q8IWZ3-3	3
Q8IWZ3-4	4
Q8IWZ3-5	5
Q8IWZ3-6	6

RefSeq proteins (4): NP_001183959, NP_060217, NP_060448, NP_078944 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR004087	KH_dom	Domain
IPR004088	KH_dom_type_1	Domain
IPR036612	KH_dom_type_1_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR047374	KH-I_ANKHD1	Domain
IPR051631	Ankyrin-KH/SAM_domain	Family

Pfam: PF00013, PF00023, PF12796

UniProt features (74 total): repeat 25, compositionally biased region 17, region of interest 8, modified residue 8, splice variant 8, sequence variant 4, coiled-coil region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWZ3-F1	54.22	0.23

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 (8): 1, 101, 105, 803, 1540, 1553, 1632, 1653

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): RNGTGGGC_UNKNOWN, E2F_Q4_01, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, AREB6_01, NFKB_Q6, NFKB_C, E2F_Q3, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, MYOD_Q6, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, ELK1_01, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, E2F1_Q3, TAATGTG_MIR323

GO Biological Process (1): innate immune response (GO:0045087)

GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
immune response	1
defense response to symbiont	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1637 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKHD1	EIF4EBP3	O60516	798
ANKHD1	SLC4A9	Q96Q91	716
ANKHD1	TCN1	P20061	685
ANKHD1	ANK1	P16157	543
ANKHD1	ANK2	Q01484	542
ANKHD1	ANK3	Q12955	541
ANKHD1	EIF4EBP2	Q13542	540
ANKHD1	ZNF655	Q8N720	475
ANKHD1	TMEM14C	Q9P0S9	461
ANKHD1	EIF4G2	P78344	446
ANKHD1	CASP7	P55210	429
ANKHD1	EIF4E	P06730	424
ANKHD1	EIF4EBP1	Q13541	410
ANKHD1	CFAP20DC	Q6ZVT6	389
ANKHD1	WBP2	Q969T9	387

IntAct

181 interactions, top by confidence:

A	B	Type	Score
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
BRK1	HSBP1	psi-mi:“MI:0914”(association)	0.740
BAP1	OGT	psi-mi:“MI:0914”(association)	0.730
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
ANKRD17	HOXB6	psi-mi:“MI:0914”(association)	0.640
TGIF2LY	PGP	psi-mi:“MI:0914”(association)	0.640
NOB1	KLHL22	psi-mi:“MI:0914”(association)	0.640
QPRT	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
ZNF414	AHCYL1	psi-mi:“MI:0914”(association)	0.640
NFKBIE	ANKHD1	psi-mi:“MI:0915”(physical association)	0.570
NOD2	ANKHD1	psi-mi:“MI:0915”(physical association)	0.550
NOD2	ANKHD1	psi-mi:“MI:2364”(proximity)	0.550
ANKHD1	NOD2	psi-mi:“MI:0915”(physical association)	0.550
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
FGF3	GTPBP10	psi-mi:“MI:0914”(association)	0.530
SIX2	EYA2	psi-mi:“MI:0914”(association)	0.530
DISC1	AP4M1	psi-mi:“MI:0914”(association)	0.530
STX11	EXOC5	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
MAGEA1	MAGEB3	psi-mi:“MI:0914”(association)	0.530
FOSL2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
TCEANC2	HTATSF1	psi-mi:“MI:0914”(association)	0.530
ZFC3H1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.530

BioGRID (420): ANKHD1 (Affinity Capture-RNA), ANKHD1-EIF4EBP3 (Affinity Capture-RNA), ANKHD1 (Affinity Capture-RNA), ANKHD1-EIF4EBP3 (Affinity Capture-RNA), ANKHD1 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Proximity Label-MS), ANKHD1-EIF4EBP3 (Proximity Label-MS)

ESM2 similar proteins: A1YVX4, A2VDR2, A3AYR1, A3KMI0, A7E2S9, A9JR78, F1REV3, O70145, O73630, O77775, P19838, P19878, P25799, P41230, Q04861, Q15327, Q4V869, Q4V8X4, Q52T38, Q5RJK8, Q5U243, Q5U2S3, Q5U2X2, Q5U312, Q5XUN4, Q62240, Q63369, Q66JD7, Q6F3J0, Q6P158, Q6P5D3, Q6PGC1, Q7SIG6, Q7Z3E5, Q7Z478, Q7ZT11, Q8IWZ3, Q8VHQ3, Q95N27, Q96T49

Diamond homologs: A0M8T3, A1X154, A4D7T3, C9JTQ0, Q00PJ3, Q05823, Q05921, Q07DV3, Q07DX6, Q07DY6, Q07DZ7, Q07E17, Q07E30, Q07E43, Q09YH1, Q09YI3, Q09YJ5, Q09YK6, Q09YN0, Q108U1, Q2IBB1, Q2IBB4, Q2IBE3, Q2IBF5, Q2IBG0, Q2QL84, Q2QLA4, Q2QLB5, Q2QLC6, Q2QLG0, Q2QLH1, Q5E9N5, Q8IWZ3, Q8VD46, Q8WMX6, Q8WMX7, Q8WMX8, Q8WWH4, Q9FY48, Q9H078

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 244 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
embryonic skeletal system morphogenesis	8	14.7×	4e-05
anterior/posterior pattern specification	11	9.3×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	19
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	Pathogenic
58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	Pathogenic

SpliceAI

5735 predictions. Top by Δscore:

Variant	Effect	Δscore
5:140402271:GAG:G	donor_gain	1.0000
5:140402274:G:C	donor_loss	1.0000
5:140402274:G:GG	donor_gain	1.0000
5:140402275:T:G	donor_loss	1.0000
5:140436096:A:AG	acceptor_gain	1.0000
5:140436097:T:G	acceptor_gain	1.0000
5:140436099:A:AG	acceptor_gain	1.0000
5:140436100:A:G	acceptor_gain	1.0000
5:140436101:CA:C	acceptor_loss	1.0000
5:140436102:A:AG	acceptor_gain	1.0000
5:140436102:A:T	acceptor_loss	1.0000
5:140436102:AG:A	acceptor_gain	1.0000
5:140436102:AGGTT:A	acceptor_gain	1.0000
5:140436103:G:GA	acceptor_gain	1.0000
5:140436103:GG:G	acceptor_gain	1.0000
5:140436103:GGT:G	acceptor_gain	1.0000
5:140436103:GGTT:G	acceptor_gain	1.0000
5:140436103:GGTTG:G	acceptor_gain	1.0000
5:140436120:T:TA	acceptor_gain	1.0000
5:140436253:AGCAG:A	donor_loss	1.0000
5:140436254:GCAG:G	donor_gain	1.0000
5:140436257:GG:G	donor_loss	1.0000
5:140436258:G:A	donor_loss	1.0000
5:140438421:T:A	acceptor_gain	1.0000
5:140438421:T:TA	acceptor_gain	1.0000
5:140438424:T:A	acceptor_gain	1.0000
5:140438424:T:TA	acceptor_gain	1.0000
5:140438429:T:A	acceptor_gain	1.0000
5:140438432:A:AG	acceptor_gain	1.0000
5:140438433:C:G	acceptor_gain	1.0000

AlphaMissense

16530 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:140436234:T:A	L146Q	1.000
5:140436234:T:C	L146P	1.000
5:140436239:G:C	A148P	1.000
5:140436243:T:C	L149S	1.000
5:140436246:T:A	L150Q	1.000
5:140436246:T:C	L150P	1.000
5:140436251:G:C	A152P	1.000
5:140438515:T:A	L172H	1.000
5:140438515:T:C	L172P	1.000
5:140438524:T:A	L175Q	1.000
5:140438524:T:C	L175P	1.000
5:140438536:T:A	V179D	1.000
5:140438548:T:C	L183P	1.000
5:140438556:G:C	A186P	1.000
5:140438557:C:A	A186D	1.000
5:140438559:G:C	A187P	1.000
5:140438562:G:C	A188P	1.000
5:140438565:G:C	A189P	1.000
5:140438569:T:C	L190P	1.000
5:140440127:T:A	L209Q	1.000
5:140440135:G:C	A212P	1.000
5:140440138:T:C	C213R	1.000
5:140440139:G:A	C213Y	1.000
5:140440140:T:G	C213W	1.000
5:140440147:G:T	G216W	1.000
5:140440148:G:A	G216E	1.000
5:140440148:G:T	G216V	1.000
5:140440163:T:A	V221D	1.000
5:140440166:G:C	R222P	1.000
5:140440175:T:A	L225Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000003066 (5:140525065 G>A), RS1000003539 (5:140475096 A>C,G), RS1000044560 (5:140426550 G>A,C), RS1000066991 (5:140500617 C>T), RS1000103364 (5:140472644 C>T), RS1000199057 (5:140428127 G>A), RS1000230997 (5:140413905 C>T), RS1000246510 (5:140479496 AAGT>A), RS1000247340 (5:140467647 C>A), RS1000296655 (5:140451561 G>A), RS1000302616 (5:140467889 A>G), RS1000331230 (5:140407025 G>A,C,T), RS1000375892 (5:140465065 A>G), RS1000379192 (5:140433880 T>C), RS1000394411 (5:140511424 C>T)

Disease associations

OMIM: gene MIM:610500 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST008103_180	Bipolar disorder	9.000000e-06
GCST008115_56	Bipolar I disorder	8.000000e-07
GCST010146_22	Serum immune biomarker levels	7.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009963	bipolar I disorder
EFO:0004872	inflammatory biomarker measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases expression, affects cotreatment, increases abundance, increases oxidation	3
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	increases oxidation, increases abundance, affects cotreatment	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, increases expression	2
Particulate Matter	increases expression, affects expression, increases abundance	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases methylation	1
methylmercuric chloride	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
sodium arsenate	increases expression	1
beta-lapachone	decreases expression, increases expression	1
sulforaphane	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects binding, decreases reaction	1
cobaltous chloride	increases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	increases methylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
jinfukang	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Cadmium	increases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XL34	HAP1 ANKHD1 (-) 1	Cancer cell line	Male
CVCL_XL35	HAP1 ANKHD1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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