AKTIP

Summary

AKTIP (AKT interacting protein, HGNC:16710) is a protein-coding gene on chromosome 16q12.2, encoding AKT-interacting protein (Q9H8T0). Component of the FTS/Hook/FHIP complex (FHF complex).

The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB’s regulatory sites. Alternative splicing results in two transcript variants encoding the same protein.

Source: NCBI Gene 64400 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 46 total — 1 pathogenic
• MANE Select transcript: NM_022476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16710
Approved symbol	AKTIP
Name	AKT interacting protein
Location	16q12.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13258
Ensembl gene	ENSG00000166971
Ensembl biotype	protein_coding
OMIM	608483
Entrez	64400

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 40 protein_coding, 5 retained_intron

ENST00000300245, ENST00000394657, ENST00000561799, ENST00000563108, ENST00000563928, ENST00000564497, ENST00000565408, ENST00000565431, ENST00000566045, ENST00000568022, ENST00000568596, ENST00000570004, ENST00000570041, ENST00000571523, ENST00000895064, ENST00000895065, ENST00000895066, ENST00000895067, ENST00000895068, ENST00000895069, ENST00000895070, ENST00000895071, ENST00000895072, ENST00000895073, ENST00000895074, ENST00000895075, ENST00000895076, ENST00000895077, ENST00000895078, ENST00000895079, ENST00000895080, ENST00000937682, ENST00000937683, ENST00000937684, ENST00000949831, ENST00000949832, ENST00000949833, ENST00000949834, ENST00000949835, ENST00000949836, ENST00000949837, ENST00000949838, ENST00000949839, ENST00000949840, ENST00000949841

RefSeq mRNA: 3 — MANE Select: NM_022476 NM_001012398, NM_001308325, NM_022476

CCDS: CCDS10749, CCDS76866

Canonical transcript exons

ENST00000394657 — 10 exons

Exon	Start	End
ENSE00001108315	53494339	53494437
ENSE00001108316	53494138	53494245
ENSE00001108319	53494517	53494605
ENSE00001108321	53492693	53492753
ENSE00001108322	53495073	53495173
ENSE00001825653	53491040	53492519
ENSE00001847005	53503147	53503209
ENSE00003557005	53498391	53498596
ENSE00003559531	53500218	53500329
ENSE00003672814	53495262	53495326

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8198 / max 93.2552, expressed in 1684 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157399	6.0163	1599
157398	2.8035	1012

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.32	gold quality
oocyte	CL:0000023	99.27	gold quality
pons	UBERON:0000988	96.97	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.59	gold quality
amniotic fluid	UBERON:0000173	96.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.53	gold quality
prefrontal cortex	UBERON:0000451	96.43	gold quality
amygdala	UBERON:0001876	96.39	gold quality
spinal cord	UBERON:0002240	96.32	gold quality
substantia nigra	UBERON:0002038	96.30	gold quality
anterior cingulate cortex	UBERON:0009835	96.26	gold quality
cingulate cortex	UBERON:0003027	96.23	gold quality
vastus lateralis	UBERON:0001379	96.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.18	gold quality
midbrain	UBERON:0001891	96.17	gold quality
hypothalamus	UBERON:0001898	96.16	gold quality
muscle of leg	UBERON:0001383	96.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.09	gold quality
skeletal muscle organ	UBERON:0014892	96.06	gold quality
gastrocnemius	UBERON:0001388	96.05	gold quality
muscle organ	UBERON:0001630	96.05	gold quality
frontal cortex	UBERON:0001870	95.98	gold quality
quadriceps femoris	UBERON:0001377	95.97	gold quality
superior vestibular nucleus	UBERON:0007227	95.97	gold quality
postcentral gyrus	UBERON:0002581	95.94	gold quality
orbitofrontal cortex	UBERON:0004167	95.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.93	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.91	gold quality
right frontal lobe	UBERON:0002810	95.86	gold quality
neocortex	UBERON:0001950	95.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting AKTIP, 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-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-3925-3P	100.00	69.95	1237
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-629-3P	99.85	67.99	1875

Literature-anchored findings (GeneRIF, showing 16)

• Ft1 protein interacts directly with PKB, enhancing the phosphorylation of both of its regulatory sites by promoting its interaction with the upstream kinase PDK1 (PMID:14749367)
• These data suggest that the FTS/Hook/FHIP complex functions to promote vesicle trafficking and/or fusion via the homotypic vacuolar protein sorting complex. (PMID:18799622)
• Demographic and clinical characteristics and AKT1 single markers and haplotypes, but not AKTIP polymorphisms or interactions between AKT1 and AKTIP, are associated with increased risk for suicidal behavior in bipolar patients. (PMID:20132317)
• These data unraveled the involvement of new oncoprotein FTS in cervical cancer which plays a central role in carcinogenesis. (PMID:20945372)
• Targeted inhibition of FTS led to the shutdown of key elemental characteristics of cervical cancer and could lead to an effective therapeutic strategy. (PMID:21424602)
• *AKTIP single nucleotide polymorphisms are not associated with late-onset depression patients compared to healthy elderly controls. (PMID:24022875)
• FTS silencing reduced EMT and cell migration by EGF treatment. These results demonstrate a novel function for FTS in EGF-mediated EMT process. (PMID:24971934)
• High fused toes homolog expression is associated with radioresistance in cervical cancer. (PMID:25151576)
• AKTIP interacts with telomeric DNA and is required for telomere maintenance. (PMID:26110528)
• results suggest that AKT1, FTO, and AKTIP polymorphisms were not associated with obesity/overweight in Brazilians children. (PMID:27342216)
• Results show that AKTIP co-purifies with A- and B-type lamins and partially co-localizes with lamins in interphase nuclei. In addition, AKTIP depletion lowers lamin A expression and induces senescence hallmarks including telomere homeostasis in human primary fibroblasts. (PMID:27512140)
• FTS is involved in EGFR-mediated repair of DNA damage induced by cisplatin in ME180 cells (PMID:27535835)
• AKTIP interacts with ESCRT I and is needed for the recruitment of ESCRT III subunits to the midbody. (PMID:34449766)
• Combined alteration of lamin and nuclear morphology influences the localization of the tumor-associated factor AKTIP. (PMID:36096808)
• AKTIP loss is enriched in ERalpha-positive breast cancer for tumorigenesis and confers endocrine resistance. (PMID:36516775)
• Higher levels of AKT-interacting protein in the frontal pole from people with schizophrenia are limited to a sub-group who have a marked deficit in cortical muscarinic M1 receptors. (PMID:39236366)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	aktip	ENSDARG00000026862
mus_musculus	Aktip	ENSMUSG00000031667
rattus_norvegicus	Aktip	ENSRNOG00000011956
drosophila_melanogaster	CG16894	FBGN0034483
drosophila_melanogaster	peo	FBGN0288856
caenorhabditis_elegans		WBGENE00006714

Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), UBE2R2 (ENSG00000107341), UBE2S (ENSG00000108106), UBE2B (ENSG00000119048), UBE2G1 (ENSG00000132388), UBE2Z (ENSG00000159202), UBE2J2 (ENSG00000160087), UBE2V2 (ENSG00000169139), UBE2C (ENSG00000175063), UBE2O (ENSG00000175931), UBE2U (ENSG00000177414), UBE2N (ENSG00000177889), UBE2F (ENSG00000184182), UBE2G2 (ENSG00000184787), UBE2H (ENSG00000186591), UBE2J1 (ENSG00000198833), PEDS1 (ENSG00000240849), UBE2V1 (ENSG00000244687), UBE2NL (ENSG00000276380)

Protein

Protein identifiers

AKT-interacting protein — Q9H8T0 (reviewed: Q9H8T0)

Alternative names: Ft1, Fused toes protein homolog

All UniProt accessions (7): Q9H8T0, H3BM79, H3BNB8, H3BRT7, H3BRV2, H3BSX7, H3BVH0

UniProt curated annotations — full annotation on UniProt →

Function. Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade. FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell.

Subunit / interactions. Component of the FTS/Hook/FHIP complex (FHF complex), composed of AKTIP/FTS, FHIP1B, and one or more members of the Hook family of proteins HOOK1, HOOK2, and HOOK3. Interacts directly with HOOK1, HOOK2 and HOOK3. The FHF complex associates with the homotypic vesicular sorting complex (the HOPS complex). Also interacts with AKT1. May interact with FHIP1A.

Subcellular location. Cytoplasm. Cell membrane.

Similarity. Belongs to the ubiquitin-conjugating enzyme family. FTS subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H8T0-1	1	yes
Q9H8T0-2	2

RefSeq proteins (3): NP_001012398, NP_001295254, NP_071921* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000608	UBC	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR050113	Ub_conjugating_enzyme-E2-like	Family

Pfam: PF00179

UniProt features (26 total): turn 7, helix 6, strand 4, compositionally biased region 2, chain 1, domain 1, region of interest 1, modified residue 1, splice variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8QAT	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H8T0-F1	78.45	0.60

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): 30

Mutagenesis-validated functional residues (1):

Position	Phenotype
106–107	impairs interaction with fhip1b, hook1, hook2 and hook3.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 246 (showing top): GOBP_POSITIVE_REGULATION_OF_PROTEIN_BINDING, GOBP_REGULATION_OF_PROTEIN_BINDING, GOBP_LYSOSOMAL_TRANSPORT, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, AREB6_03, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_VACUOLAR_TRANSPORT, GOBP_DNA_DAMAGE_TOLERANCE, GOBP_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (11): positive regulation of protein phosphorylation (GO:0001934), DNA damage tolerance (GO:0006301), apoptotic process (GO:0006915), endosome organization (GO:0007032), lysosome organization (GO:0007040), endosome to lysosome transport (GO:0008333), protein transport (GO:0015031), positive regulation of protein binding (GO:0032092), early endosome to late endosome transport (GO:0045022), protein K63-linked ubiquitination (GO:0070534), protein localization to perinuclear region of cytoplasm (GO:1905719)

GO Molecular Function (2): ubiquitin conjugating enzyme activity (GO:0061631), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), plasma membrane (GO:0005886), FHF complex (GO:0070695), cytoplasm (GO:0005737), membrane (GO:0016020), HOPS complex (GO:0030897)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular protein localization	2
cytoplasm	2
cellular anatomical structure	2
regulation of protein phosphorylation	1
protein phosphorylation	1
positive regulation of protein modification process	1
positive regulation of phosphorylation	1
DNA metabolic process	1
DNA replication	1
DNA damage response	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
endomembrane system organization	1
vesicle organization	1
lytic vacuole organization	1
lysosomal transport	1
intercellular transport	1
vesicle-mediated transport	1
transport	1
establishment of protein localization	1
protein binding	1
regulation of protein binding	1
positive regulation of binding	1
vesicle-mediated transport between endosomal compartments	1
protein polyubiquitination	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein conjugating enzyme activity	1
binding	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
protein-containing complex	1
intracellular anatomical structure	1
membrane protein complex	1
vesicle tethering complex	1

Protein interactions and networks

STRING

838 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKTIP	TERF1	P54274	876
AKTIP	FHIP1B	Q8N612	870
AKTIP	HOOK2	Q96ED9	710
AKTIP	AKT1	P31749	696
AKTIP	PDPK1	O15530	650
AKTIP	FHIP1A	Q05DH4	606
AKTIP	NFATC1	O95644	547
AKTIP	HOOK1	Q9UJC3	544
AKTIP	HOOK3	Q86VS8	511
AKTIP	FHIP2A	Q5W0V3	469
AKTIP	FHIP2B	Q86V87	440
AKTIP	RPGRIP1L	Q68CZ1	404
AKTIP	TRIM7	Q9C029	393
AKTIP	SKP1	P34991	391
AKTIP	RBL2	Q08999	381

IntAct

76 interactions, top by confidence:

A	B	Type	Score
AKTIP	HOOK1	psi-mi:“MI:0915”(physical association)	0.870
HOOK1	AKTIP	psi-mi:“MI:0915”(physical association)	0.870
HOOK2	AKTIP	psi-mi:“MI:0915”(physical association)	0.850
AKTIP	HOOK2	psi-mi:“MI:0915”(physical association)	0.850
HOOK3	AKTIP	psi-mi:“MI:0915”(physical association)	0.750
AKTIP	HOOK3	psi-mi:“MI:0915”(physical association)	0.750
FHIP1A	AKTIP	psi-mi:“MI:0915”(physical association)	0.640
AKTIP	FHIP1A	psi-mi:“MI:0915”(physical association)	0.640
HOOK2	AKTIP	psi-mi:“MI:0915”(physical association)	0.560
TRIM35	MTA2	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
AKTIP	HOOK1	psi-mi:“MI:0915”(physical association)	0.370
YBEY	AKTIP	psi-mi:“MI:0915”(physical association)	0.370
AKTIP	CENPN	psi-mi:“MI:0915”(physical association)	0.370
AKTIP	EMID1	psi-mi:“MI:0915”(physical association)	0.370
MTPN	AKTIP	psi-mi:“MI:0915”(physical association)	0.370
DZIP3	AKTIP	psi-mi:“MI:0915”(physical association)	0.370
AKTIP	TRIM23	psi-mi:“MI:0915”(physical association)	0.370
MARCHF5	AKTIP	psi-mi:“MI:0915”(physical association)	0.370
AKTIP	TRIM41	psi-mi:“MI:0915”(physical association)	0.370
FHIP1B	AKTIP	psi-mi:“MI:0915”(physical association)	0.370
CTBP2	AKTIP	psi-mi:“MI:0915”(physical association)	0.370
TNFSF13B	HEATR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (181): AKTIP (Two-hybrid), HOOK1 (Affinity Capture-MS), HOOK3 (Affinity Capture-MS), HOOK2 (Affinity Capture-MS), TRIM32 (Affinity Capture-MS), NAB1 (Affinity Capture-MS), FAM160A2 (Affinity Capture-MS), FAM160A1 (Affinity Capture-MS), TSC1 (Affinity Capture-MS), PGGT1B (Affinity Capture-MS), AKTIP (Affinity Capture-MS), AKTIP (Two-hybrid), AKTIP (Two-hybrid), EGFR (Affinity Capture-Western), AKTIP (Proximity Label-MS)

ESM2 similar proteins: A6H795, B3RTL9, B5DEI4, B5X1G6, B9EM04, C1BKD1, C1BZU2, C3ZDX5, O23239, P42743, Q02384, Q07889, Q07890, Q13404, Q15819, Q1JPX4, Q28FC1, Q28IA3, Q32L27, Q3SZ43, Q3SZ52, Q498F8, Q4R5E1, Q4VBH4, Q5E953, Q5F3Z3, Q5R4Z6, Q5R6C9, Q5RE48, Q5XGV8, Q5ZJJ5, Q6BBI8, Q6DEN0, Q6DJ78, Q6PEH5, Q7M767, Q7ZYX1, Q8VDW4, Q90879, Q96B02

Diamond homologs: A1ZBR5, A7RRG3, B0X6E8, B3MEZ6, B3MGT3, B3N6U7, B3NK72, B4GD81, B4H581, B4HPU1, B4HT57, B4J613, B4JWF5, B4KMF8, B4KS18, B4LNV5, B4LPP8, B4MQY1, B4MRW2, B4NWM2, B4PAP8, B4QEJ9, B4QHS6, B5X1G6, Q17PP1, Q28IA3, Q28XA5, Q28YD9, Q498F8, Q4R5E1, Q5FVH4, Q5RE48, Q5XGV8, Q5ZJJ5, Q64362, Q7K4V4, Q7PRH1, Q7ZYX1, Q9H8T0, P61077

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	37
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	Pathogenic

SpliceAI

1897 predictions. Top by Δscore:

Variant	Effect	Δscore
16:53492691:A:AC	donor_gain	1.0000
16:53492692:C:CC	donor_gain	1.0000
16:53492750:AAAG:A	acceptor_gain	1.0000
16:53492752:AG:A	acceptor_gain	1.0000
16:53492754:C:CC	acceptor_gain	1.0000
16:53492755:T:C	acceptor_gain	1.0000
16:53492755:T:TC	acceptor_gain	1.0000
16:53494337:A:AC	donor_gain	1.0000
16:53494338:C:CC	donor_gain	1.0000
16:53494338:CAGTA:C	donor_gain	1.0000
16:53494342:A:AC	donor_gain	1.0000
16:53494343:C:CC	donor_gain	1.0000
16:53494513:TTACC:T	donor_loss	1.0000
16:53494515:A:AC	donor_gain	1.0000
16:53494515:A:T	donor_loss	1.0000
16:53494515:ACCT:A	donor_gain	1.0000
16:53494516:C:CA	donor_loss	1.0000
16:53494516:C:CC	donor_gain	1.0000
16:53494516:CCT:C	donor_gain	1.0000
16:53494516:CCTC:C	donor_gain	1.0000
16:53494602:AGCG:A	acceptor_gain	1.0000
16:53494603:GCG:G	acceptor_gain	1.0000
16:53494604:CG:C	acceptor_gain	1.0000
16:53494604:CGC:C	acceptor_gain	1.0000
16:53494606:C:CC	acceptor_gain	1.0000
16:53494612:T:C	acceptor_gain	1.0000
16:53494612:T:TC	acceptor_gain	1.0000
16:53495071:A:AC	donor_gain	1.0000
16:53495072:C:CT	donor_gain	1.0000
16:53495072:CTGGA:C	donor_gain	1.0000

AlphaMissense

1911 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:53492471:A:G	W274R	1.000
16:53492471:A:T	W274R	1.000
16:53494210:A:T	V213D	1.000
16:53494222:A:G	F209S	1.000
16:53494348:G:T	A198D	1.000
16:53494418:A:G	W175R	1.000
16:53494418:A:T	W175R	1.000
16:53494424:G:C	H173D	1.000
16:53494519:C:A	W167C	1.000
16:53494519:C:G	W167C	1.000
16:53494520:C:A	W167L	1.000
16:53494520:C:G	W167S	1.000
16:53494521:A:G	W167R	1.000
16:53494521:A:T	W167R	1.000
16:53494528:A:C	F164L	1.000
16:53494528:A:T	F164L	1.000
16:53494530:A:G	F164L	1.000
16:53494547:A:G	L158P	1.000
16:53494568:A:T	V151D	1.000
16:53494574:G:T	P149Q	1.000
16:53495074:G:T	P138Q	1.000
16:53495089:G:T	P133Q	1.000
16:53495110:A:T	V126D	1.000
16:53495122:A:G	F122S	1.000
16:53495143:C:T	G115E	1.000
16:53495154:G:C	F111L	1.000
16:53495154:G:T	F111L	1.000
16:53495156:A:G	F111L	1.000
16:53495164:C:T	G108E	1.000
16:53495165:C:G	G108R	1.000

dbSNP variants (sampled 300 via entrez): RS1000225170 (16:53504243 C>G), RS1000443147 (16:53495543 C>A,G), RS1000703194 (16:53504541 C>T), RS1000863162 (16:53501194 A>G), RS1000895663 (16:53501512 C>A), RS1001196505 (16:53502625 C>T), RS1001198250 (16:53497045 C>T), RS1001227659 (16:53502828 C>A,T), RS1001717672 (16:53496959 G>T), RS1001828161 (16:53490853 C>T), RS1001872665 (16:53490914 G>C), RS1002003973 (16:53497896 C>T), RS1002229105 (16:53502143 C>T), RS1002300983 (16:53502522 C>T), RS1002360488 (16:53496358 C>CA)

Disease associations

OMIM: gene MIM:608483 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST002755_7	Depressive symptoms (SSRI exposure interaction)	2.000000e-06
GCST004067_182	Hip circumference adjusted for BMI	1.000000e-06
GCST004067_64	Hip circumference adjusted for BMI	1.000000e-09
GCST005950_1	Body mass index x sex x age interaction (4df test)	2.000000e-187
GCST005951_192	Body mass index	4.000000e-188
GCST005952_1	Body mass index (age>50)	1.000000e-97
GCST006190_40	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-10
GCST006190_66	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	4.000000e-08
GCST006192_13	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	4.000000e-20
GCST006192_27	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-13
GCST006193_23	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-11
GCST006193_64	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	6.000000e-09
GCST006195_5	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	6.000000e-14
GCST006195_53	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-20
GCST90011900_125	Serum alkaline phosphatase levels	8.000000e-11
GCST90020028_1497	Hip circumference adjusted for BMI	2.000000e-20
GCST90020028_1499	Hip circumference adjusted for BMI	1.000000e-08

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0007006	depressive symptom measurement
EFO:0007010	drug use measurement
EFO:0007011	SSRI use measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
potassium chromate(VI)	decreases expression, affects cotreatment	2
Aflatoxin B1	decreases methylation, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
chromium hexavalent ion	decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Leflunomide	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Caffeine	increases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	increases methylation	1
Succimer	increases expression, affects cotreatment	1
Lead	increases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Nickel	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SC17	HAP1 AKTIP (-) 1	Cancer cell line	Male
CVCL_SC18	HAP1 AKTIP (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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