KIAA0232

Summary

KIAA0232 (HGNC:28992) is a protein-coding gene on chromosome 4p16.1, encoding Uncharacterized protein KIAA0232 (Q92628).

Predicted to enable ATP binding activity.

Source: NCBI Gene 9778 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 184 total
• MANE Select transcript: NM_014743

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28992
Approved symbol	KIAA0232
Name	KIAA0232
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170871
Ensembl biotype	protein_coding
OMIM	619237
Entrez	9778

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000307659, ENST00000425103, ENST00000503069, ENST00000503278, ENST00000508423

RefSeq mRNA: 2 — MANE Select: NM_014743 NM_001100590, NM_014743

CCDS: CCDS43209

Canonical transcript exons

ENST00000307659 — 10 exons

Exon	Start	End
ENSE00001137388	6876660	6876757
ENSE00001137396	6871574	6871682
ENSE00001137401	6860901	6864183
ENSE00001192557	6842067	6842204
ENSE00001429642	6804523	6804606
ENSE00002044011	6782727	6782841
ENSE00002081982	6880787	6884164
ENSE00003462495	6858425	6858506
ENSE00003608282	6857164	6857230
ENSE00003654846	6824185	6824684

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8684 / max 305.2987, expressed in 1800 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46798	18.3528	1797
46799	0.8304	479
46797	0.5268	255
46802	0.1194	35
46803	0.0390	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	98.42	gold quality
middle temporal gyrus	UBERON:0002771	98.13	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.12	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.99	gold quality
biceps brachii	UBERON:0001507	97.26	gold quality
choroid plexus epithelium	UBERON:0003911	97.22	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.00	gold quality
endothelial cell	CL:0000115	96.87	gold quality
medial globus pallidus	UBERON:0002477	96.70	gold quality
esophagus squamous epithelium	UBERON:0006920	96.69	gold quality
globus pallidus	UBERON:0001875	96.67	gold quality
dorsal plus ventral thalamus	UBERON:0001897	96.66	gold quality
amniotic fluid	UBERON:0000173	96.53	gold quality
superior vestibular nucleus	UBERON:0007227	96.53	gold quality
caput epididymis	UBERON:0004358	96.50	gold quality
cranial nerve II	UBERON:0000941	96.42	gold quality
body of tongue	UBERON:0011876	96.42	gold quality
medulla oblongata	UBERON:0001896	96.38	gold quality
subthalamic nucleus	UBERON:0001906	96.38	gold quality
parietal lobe	UBERON:0001872	96.35	gold quality
postcentral gyrus	UBERON:0002581	96.31	gold quality
lateral globus pallidus	UBERON:0002476	96.28	gold quality
metanephric glomerulus	UBERON:0004736	96.27	gold quality
inferior vagus X ganglion	UBERON:0005363	96.26	gold quality
renal glomerulus	UBERON:0000074	96.23	gold quality
substantia nigra pars compacta	UBERON:0001965	96.19	gold quality
gluteal muscle	UBERON:0002000	96.06	gold quality
inferior olivary complex	UBERON:0002127	96.04	gold quality
ventral tegmental area	UBERON:0002691	95.97	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

143 targeting KIAA0232, 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-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-7-1-3P	99.91	71.53	4384

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kiaa0232	ENSDARG00000052244
mus_musculus	D5Ertd579e	ENSMUSG00000029190
rattus_norvegicus	Kiaa0232	ENSRNOG00000027623

Protein

Protein identifiers

Uncharacterized protein KIAA0232 — Q92628 (reviewed: Q92628)

All UniProt accessions (2): Q92628, D6REK0

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (2): NP_001094060, NP_055558* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027871	DUF4603	Family

Pfam: PF15376

UniProt features (20 total): compositionally biased region 9, region of interest 4, modified residue 4, chain 1, binding site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92628-F1	41.65	0.03

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 89–96

Post-translational modifications (4): 814, 1080, 1194, 1338

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 159 (showing top): ONKEN_UVEAL_MELANOMA_UP, chr4p16, GENTILE_UV_RESPONSE_CLUSTER_D9, RIGGINS_TAMOXIFEN_RESISTANCE_DN, YANG_BREAST_CANCER_ESR1_UP, ATACTGT_MIR144, GOMF_ADENYL_NUCLEOTIDE_BINDING, FARMER_BREAST_CANCER_CLUSTER_6, MIKKELSEN_NPC_LCP_WITH_H3K4ME3, KIM_ALL_DISORDERS_OLIGODENDROCYTE_NUMBER_CORR_UP, KIM_ALL_DISORDERS_CALB1_CORR_UP, JOHNSTONE_PARVB_TARGETS_1_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_MAGENTA_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_UP

GO Biological Process (0):

GO Molecular Function (3): ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1

Protein interactions and networks

STRING

452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA0232	OR51F1	A6NGY5	547
KIAA0232	ACAD10	Q6JQN1	523
KIAA0232	IMPG1	Q17R60	423
KIAA0232	ZBTB9	Q96C00	418
KIAA0232	ZC3H6	P61129	393
KIAA0232	CFAP61	Q8NHU2	372
KIAA0232	KRTDAP	P60985	370
KIAA0232	PRELID3B	Q9Y3B1	367
KIAA0232	CCDC71L	Q8N9Z2	357
KIAA0232	PEAR1	Q5VY43	314
KIAA0232	ZFAND6	Q6FIF0	312
KIAA0232	NAA20	P61599	310
KIAA0232	TBC1D9	Q6ZT07	289
KIAA0232	MAPK4	P31152	257
KIAA0232	ARHGEF3	Q9NR81	251

IntAct

93 interactions, top by confidence:

A	B	Type	Score
SOCS7	NCK2	psi-mi:“MI:0914”(association)	0.670
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
SOCS6	ARIH2	psi-mi:“MI:0914”(association)	0.620
NAT8L	KIAA0232	psi-mi:“MI:0915”(physical association)	0.590
ODAPH	TCAF2	psi-mi:“MI:0914”(association)	0.530
FRMD1	A2ML1	psi-mi:“MI:0914”(association)	0.530
ADAMTS4	MANBA	psi-mi:“MI:0914”(association)	0.530
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
HCFC2	SETD1A	psi-mi:“MI:0914”(association)	0.530
BRINP3	BUB1	psi-mi:“MI:0914”(association)	0.530
TSPYL1	GPC3	psi-mi:“MI:0914”(association)	0.530
FANCD2OS	CNOT1	psi-mi:“MI:0914”(association)	0.530
NOL9	IPO5	psi-mi:“MI:0914”(association)	0.530
USP36	NPM1	psi-mi:“MI:0914”(association)	0.530
CTSG	MANBA	psi-mi:“MI:0914”(association)	0.530
DBF4B	CDC7	psi-mi:“MI:0914”(association)	0.530
EMILIN3	ZZEF1	psi-mi:“MI:0914”(association)	0.530
PIP	TBKBP1	psi-mi:“MI:0914”(association)	0.530
SGO1	USP12	psi-mi:“MI:0914”(association)	0.530
DYRK1B	BMAL1	psi-mi:“MI:0914”(association)	0.530
KIAA0232	SHANK3	psi-mi:“MI:0915”(physical association)	0.370
ALB	SH3BP5	psi-mi:“MI:0914”(association)	0.350
IQCN	TARSL2	psi-mi:“MI:0914”(association)	0.350
SIRT6	HDAC3	psi-mi:“MI:0914”(association)	0.350

BioGRID (127): KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WRU1, A0JNH1, A2RUB1, A6QNQ6, B0S6S9, B1WC58, D3Z987, D3ZJ47, E1BC15, O60673, P28358, P28359, P56716, P70347, Q0P5X5, Q0VAV2, Q0VBV7, Q15468, Q2M2Z5, Q3UXL4, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5QGS0, Q5T1N1, Q5VWN6, Q60988, Q61493, Q62924, Q6ZP01, Q6ZU52, Q6ZVD7, Q80U59, Q80WQ8, Q86WS4, Q86YC2, Q8CB14, Q8IUR6

Diamond homologs: Q80U59, Q92628

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 126 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	60.3×	3e-09
Activation of BAD and translocation to mitochondria	6	58.6×	7e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	51.7×	1e-07
Activation of BH3-only proteins	6	38.2×	9e-07
RHO GTPases activate PKNs	6	24.4×	9e-06
Intrinsic Pathway for Apoptosis	6	22.5×	1e-05
FOXO-mediated transcription	5	21.5×	1e-04
SARS-CoV-1-host interactions	8	18.0×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	155
Likely benign	13
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

2728 predictions. Top by Δscore:

Variant	Effect	Δscore
4:6824680:AACAG:A	donor_loss	1.0000
4:6824681:ACAG:A	donor_loss	1.0000
4:6824682:CAGG:C	donor_loss	1.0000
4:6824683:AGGT:A	donor_loss	1.0000
4:6824684:GG:G	donor_loss	1.0000
4:6824685:G:T	donor_loss	1.0000
4:6824686:T:A	donor_loss	1.0000
4:6842202:GAA:G	donor_gain	1.0000
4:6842205:G:GG	donor_gain	1.0000
4:6857159:TGCA:T	acceptor_loss	1.0000
4:6857161:CA:C	acceptor_loss	1.0000
4:6857161:CAG:C	acceptor_gain	1.0000
4:6857162:A:AG	acceptor_gain	1.0000
4:6857162:AGA:A	acceptor_gain	1.0000
4:6857163:G:GA	acceptor_gain	1.0000
4:6857163:GA:G	acceptor_gain	1.0000
4:6857163:GAG:G	acceptor_gain	1.0000
4:6857163:GAGC:G	acceptor_gain	1.0000
4:6857163:GAGCT:G	acceptor_gain	1.0000
4:6857227:CAAG:C	donor_loss	1.0000
4:6857228:AAG:A	donor_loss	1.0000
4:6857229:AG:A	donor_loss	1.0000
4:6857230:GGT:G	donor_loss	1.0000
4:6857232:T:A	donor_loss	1.0000
4:6858418:A:AG	acceptor_gain	1.0000
4:6858419:T:G	acceptor_gain	1.0000
4:6858420:A:AG	acceptor_gain	1.0000
4:6858423:A:AG	acceptor_gain	1.0000
4:6858424:G:GG	acceptor_gain	1.0000
4:6858507:G:GG	donor_gain	1.0000

AlphaMissense

9223 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:6824593:T:C	L47P	1.000
4:6842173:C:A	A113D	1.000
4:6842185:T:C	L117P	1.000
4:6824581:T:C	L43P	0.999
4:6824593:T:A	L47H	0.999
4:6824635:T:A	V61D	0.999
4:6824638:T:C	L62P	0.999
4:6824644:T:C	L64P	0.999
4:6824647:T:C	L65P	0.999
4:6842185:T:A	L117H	0.999
4:6857195:T:C	L134P	0.999
4:6857207:T:C	L138P	0.999
4:6861586:T:A	W402R	0.999
4:6861586:T:C	W402R	0.999
4:6824577:T:A	W42R	0.998
4:6824577:T:C	W42R	0.998
4:6824579:G:C	W42C	0.998
4:6824579:G:T	W42C	0.998
4:6824581:T:A	L43Q	0.998
4:6842169:G:C	A112P	0.998
4:6842172:G:C	A113P	0.998
4:6842176:T:A	V114D	0.998
4:6842181:T:C	C116R	0.998
4:6824622:T:G	Y57D	0.997
4:6824629:G:C	R59P	0.997
4:6824640:A:C	S63R	0.997
4:6824642:T:A	S63R	0.997
4:6824642:T:G	S63R	0.997
4:6842185:T:G	L117R	0.997
4:6842194:C:A	A120D	0.997

dbSNP variants (sampled 300 via entrez): RS1000002594 (4:6795849 C>T), RS1000009897 (4:6787106 G>A,C,T), RS1000015413 (4:6869978 G>A), RS1000047904 (4:6870135 G>T), RS1000054699 (4:6826829 G>A), RS1000092405 (4:6858614 T>G), RS1000109703 (4:6782544 C>G,T), RS1000116826 (4:6852015 T>C), RS1000174464 (4:6881457 G>T), RS1000265184 (4:6795661 C>A,G), RS1000282303 (4:6831860 C>G,T), RS1000307953 (4:6807046 C>A,G), RS1000309017 (4:6864959 C>T), RS1000331231 (4:6846943 C>G), RS1000354413 (4:6842817 G>A,C)

Disease associations

OMIM: gene MIM:619237 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001335_12	Mean platelet volume	1.000000e-11
GCST002184_4	Mean platelet volume	6.000000e-07
GCST002733_3	Platelet count	1.000000e-10
GCST012462_3	Asthma and eczema	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
arsenite	decreases reaction, affects binding	1
sodium arsenite	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases phosphorylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Folic Acid	decreases expression	1
Indomethacin	decreases expression, affects cotreatment	1
Plant Extracts	affects cotreatment, increases expression	1
Silver	increases expression	1
T-2 Toxin	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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