KIAA0930

Summary

KIAA0930 (HGNC:1314) is a protein-coding gene on chromosome 22q13.31, encoding Uncharacterized protein KIAA0930 (Q6ICG6).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 76 total — 1 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001009880

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1314
Approved symbol	KIAA0930
Name	KIAA0930
Location	22q13.31
Locus type	gene with protein product
Status	Approved
Aliases	bK268H5.C22.1
Ensembl gene	ENSG00000100364
Ensembl biotype	protein_coding
OMIM	619709
Entrez	23313

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 13 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000251993, ENST00000336156, ENST00000391627, ENST00000414854, ENST00000417906, ENST00000423262, ENST00000424508, ENST00000440039, ENST00000474515, ENST00000483374, ENST00000486640, ENST00000488038, ENST00000492273, ENST00000493003, ENST00000496226, ENST00000498418, ENST00000927183, ENST00000944328, ENST00000944329, ENST00000944330, ENST00000944331

RefSeq mRNA: 2 — MANE Select: NM_001009880 NM_001009880, NM_015264

CCDS: CCDS33665, CCDS33666

Canonical transcript exons

ENST00000336156 — 10 exons

Exon	Start	End
ENSE00001388805	45240640	45240894
ENSE00001866036	45192244	45197216
ENSE00003460101	45205793	45205912
ENSE00003468426	45205217	45205318
ENSE00003563418	45199873	45200035
ENSE00003585305	45197790	45197948
ENSE00003617262	45205630	45205707
ENSE00003633751	45203845	45203985
ENSE00003669399	45202990	45203184
ENSE00003704339	45211956	45212107

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.2370 / max 832.9894, expressed in 1792 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194572	19.4194	1781
194560	3.9889	911
194562	2.0564	466
194570	1.4676	465
194571	1.0049	370
194561	0.3355	120
194564	0.2568	89
194568	0.2328	90
194569	0.1458	59
194563	0.1430	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
putamen	UBERON:0001874	98.44	gold quality
amygdala	UBERON:0001876	98.44	gold quality
right frontal lobe	UBERON:0002810	98.26	gold quality
nucleus accumbens	UBERON:0001882	98.08	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.08	gold quality
medial globus pallidus	UBERON:0002477	98.02	gold quality
globus pallidus	UBERON:0001875	97.91	gold quality
hypothalamus	UBERON:0001898	97.90	gold quality
caudate nucleus	UBERON:0001873	97.85	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.75	gold quality
ventral tegmental area	UBERON:0002691	97.57	gold quality
inferior vagus X ganglion	UBERON:0005363	97.50	gold quality
Ammon’s horn	UBERON:0001954	97.36	gold quality
corpus callosum	UBERON:0002336	97.36	gold quality
midbrain	UBERON:0001891	97.29	gold quality
substantia nigra	UBERON:0002038	97.28	gold quality
spinal cord	UBERON:0002240	97.04	gold quality
superior vestibular nucleus	UBERON:0007227	97.04	gold quality
monocyte	CL:0000576	96.95	gold quality
medulla oblongata	UBERON:0001896	96.87	gold quality
mononuclear cell	CL:0000842	96.86	gold quality
leukocyte	CL:0000738	96.80	gold quality
nipple	UBERON:0002030	96.79	gold quality
lateral globus pallidus	UBERON:0002476	96.79	gold quality
subthalamic nucleus	UBERON:0001906	96.75	gold quality
middle temporal gyrus	UBERON:0002771	96.68	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.64	gold quality
occipital lobe	UBERON:0002021	96.54	gold quality
primary visual cortex	UBERON:0002436	96.52	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.39
E-HCAD-30	no	458.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

187 targeting KIAA0930, 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-4283	100.00	66.42	2097
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6783-3P	99.89	67.92	2059

Literature-anchored findings (GeneRIF, showing 1)

• Protein-altering germline mutations implicate novel genes related to lung cancer development. (PMID:32393777)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	kiaa0930	ENSDARG00000068830
mus_musculus	5031439G07Rik	ENSMUSG00000036046
rattus_norvegicus	Kiaa0930	ENSRNOG00000031269
drosophila_melanogaster	CG9646	FBGN0034184
caenorhabditis_elegans		WBGENE00015866

Protein

Protein identifiers

Uncharacterized protein KIAA0930 — Q6ICG6 (reviewed: Q6ICG6)

All UniProt accessions (8): Q6ICG6, B0QY16, B0QY18, B0QY20, F8WD08, H7C1U5, V9GYW7, V9GZ62

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ICG6-1	1	yes
Q6ICG6-2	2
Q6ICG6-3	3

RefSeq proteins (2): NP_001009880, NP_056079 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019141	DUF2045	Family

Pfam: PF09741

UniProt features (16 total): modified residue 10, region of interest 2, splice variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ICG6-F1	72.95	0.42

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 (10): 306, 324, 358, 362, 267, 276, 279, 290, 293, 304

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 235 (showing top): ELVIDGE_HYPOXIA_DN, ATACCTC_MIR202, CACCAGC_MIR138, BEIER_GLIOMA_STEM_CELL_DN, MODULE_205, CATTTCA_MIR203, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, BROWNE_HCMV_INFECTION_24HR_DN, MORF_BMPR2, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, SENESE_HDAC3_TARGETS_DN, LEIN_MIDBRAIN_MARKERS, chr22q13, MULLIGHAN_MLL_SIGNATURE_1_UP, WINNEPENNINCKX_MELANOMA_METASTASIS_DN

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (2): molecular_function (GO:0003674), protein binding (GO:0005515)

GO Cellular Component (1): cellular_component (GO:0005575)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA0930	C11orf16	Q9NQ32	507
KIAA0930	PGCKA1	Q8IY42	447
KIAA0930	SKA2	Q8WVK7	447
KIAA0930	C12orf56	Q8IXR9	445
KIAA0930	ARPP21	Q9UBL0	444
KIAA0930	MYH7B	A7E2Y1	432
KIAA0930	UBE4A	Q14139	386
KIAA0930	ANKS1A	Q92625	385
KIAA0930	SLIT3	O75094	379
KIAA0930	OGFOD3	Q6PK18	373
KIAA0930	DYNC1I2	Q13409	372
KIAA0930	DPY19L4	Q7Z388	372
KIAA0930	TMEM141	Q96I45	371
KIAA0930	CTDSP1	Q9GZU7	367
KIAA0930	CTDSPL	O15194	364

IntAct

49 interactions, top by confidence:

A	B	Type	Score
KIAA0930	YWHAB	psi-mi:“MI:0915”(physical association)	0.890
YWHAG	KIAA0930	psi-mi:“MI:0915”(physical association)	0.870
KIAA0930	YWHAG	psi-mi:“MI:0915”(physical association)	0.870
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
KIAA0930	YWHAE	psi-mi:“MI:0915”(physical association)	0.710
SFN	KIAA0930	psi-mi:“MI:0915”(physical association)	0.690
KIAA0930	SFN	psi-mi:“MI:0915”(physical association)	0.690
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAB	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
KIAA0930	ATG7	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
PEF1	KIAA0930	psi-mi:“MI:0915”(physical association)	0.400
KIAA0930	AGTR1	psi-mi:“MI:0915”(physical association)	0.370
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
USP11	PRRC2B	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (74): YWHAQ (Affinity Capture-MS), YWHAB (Affinity Capture-MS), SFN (Affinity Capture-MS), YWHAG (Affinity Capture-MS), YWHAE (Affinity Capture-MS), YWHAZ (Affinity Capture-MS), YWHAH (Affinity Capture-MS), KLHL11 (Affinity Capture-MS), FRYL (Affinity Capture-MS), ATG7 (Affinity Capture-MS), WRN (Affinity Capture-MS), KIAA0930 (Affinity Capture-MS), KIAA0930 (Affinity Capture-MS), CDK5RAP1 (Affinity Capture-MS), KLHL11 (Affinity Capture-MS)

ESM2 similar proteins: A1A4Q8, A4IIZ9, A5D794, A5WUL3, E5DG73, F4HPA7, O15169, O35625, O42252, O55007, O57595, O70239, P49884, P68943, P70662, Q08D01, Q0IHI6, Q13506, Q1EQW7, Q2TBN4, Q2YDF2, Q3UE31, Q4G008, Q53AD2, Q5RBZ4, Q5RKN3, Q5XIX8, Q60520, Q66KX4, Q6GQ95, Q6GYQ0, Q6ICG6, Q6PC45, Q800L3, Q801S4, Q86U70, Q8BG30, Q8CFE5, Q8JHI6, Q96G25

Diamond homologs: Q3UE31, Q4G008, Q6ICG6, Q801S4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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
Activation of BAD and translocation to mitochondria	7	190.3×	1e-13
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	167.9×	2e-13
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	167.9×	2e-13
Activation of BH3-only proteins	7	124.1×	2e-12
RHO GTPases activate PKNs	7	79.3×	6e-11
Intrinsic Pathway for Apoptosis	7	73.2×	1e-10
FOXO-mediated transcription	5	60.0×	2e-07
SARS-CoV-1-host interactions	7	43.9×	3e-09

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	53.9×	5e-06
intracellular protein localization	8	24.6×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	53
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	Pathogenic
1691075	NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu)	Likely pathogenic
1691077	NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr)	Likely pathogenic

SpliceAI

2879 predictions. Top by Δscore:

Variant	Effect	Δscore
22:45197945:TCGG:T	acceptor_gain	1.0000
22:45197946:CGG:C	acceptor_gain	1.0000
22:45197946:CGGC:C	acceptor_gain	1.0000
22:45197947:GG:G	acceptor_gain	1.0000
22:45197949:C:CC	acceptor_gain	1.0000
22:45199868:GTCAC:G	donor_loss	1.0000
22:45199869:TCA:T	donor_loss	1.0000
22:45199870:CAC:C	donor_loss	1.0000
22:45199872:CCTCC:C	donor_loss	1.0000
22:45199874:T:TA	donor_gain	1.0000
22:45199875:C:A	donor_gain	1.0000
22:45199884:T:TA	donor_gain	1.0000
22:45199887:T:TA	donor_gain	1.0000
22:45199888:C:A	donor_gain	1.0000
22:45199899:T:TA	donor_gain	1.0000
22:45199900:C:CA	donor_gain	1.0000
22:45200034:AC:A	acceptor_gain	1.0000
22:45200035:CC:C	acceptor_gain	1.0000
22:45200037:T:C	acceptor_loss	1.0000
22:45202984:CCTT:C	donor_loss	1.0000
22:45202985:CTTA:C	donor_loss	1.0000
22:45202986:TTA:T	donor_loss	1.0000
22:45202987:TACCC:T	donor_loss	1.0000
22:45202988:AC:A	donor_gain	1.0000
22:45202989:CC:C	donor_gain	1.0000
22:45202989:CCCG:C	donor_gain	1.0000
22:45203135:T:C	acceptor_gain	1.0000
22:45203186:T:A	acceptor_loss	1.0000
22:45203194:G:T	acceptor_gain	1.0000
22:45203839:ACTC:A	donor_loss	1.0000

AlphaMissense

2680 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:45197819:A:T	V382D	1.000
22:45203069:A:T	V258D	1.000
22:45203075:A:C	M256R	1.000
22:45203081:G:T	A254D	1.000
22:45203082:C:G	A254P	1.000
22:45203087:C:A	G252V	1.000
22:45203087:C:T	G252D	1.000
22:45203088:C:A	G252C	1.000
22:45203088:C:G	G252R	1.000
22:45203102:C:T	G247D	1.000
22:45203103:C:G	G247R	1.000
22:45203108:A:C	M245R	1.000
22:45203108:A:G	M245T	1.000
22:45203108:A:T	M245K	1.000
22:45203116:A:C	F242L	1.000
22:45203116:A:T	F242L	1.000
22:45203117:A:G	F242S	1.000
22:45203118:A:G	F242L	1.000
22:45203867:A:G	L212P	1.000
22:45203867:A:T	L212H	1.000
22:45203882:A:T	I207N	1.000
22:45203888:C:T	G205D	1.000
22:45203889:C:G	G205R	1.000
22:45203893:A:C	F203L	1.000
22:45203893:A:T	F203L	1.000
22:45203894:A:G	F203S	1.000
22:45203895:A:G	F203L	1.000
22:45203930:G:T	A191D	1.000
22:45203936:A:G	L189P	1.000
22:45203942:A:T	V187E	1.000

dbSNP variants (sampled 300 via entrez): RS1000019227 (22:45216157 G>A), RS1000121683 (22:45218778 C>A,G), RS1000182330 (22:45218119 T>C), RS1000302411 (22:45223674 A>C), RS1000421327 (22:45241620 A>G), RS1000564552 (22:45217072 T>C), RS1000623419 (22:45215291 A>G), RS1000694065 (22:45222110 G>T), RS1000701000 (22:45210799 C>T), RS1000751860 (22:45210523 G>A), RS1000777516 (22:45205045 C>T), RS1000798294 (22:45242467 G>A,C,T), RS1000865544 (22:45241366 G>C), RS1000866385 (22:45231420 G>A), RS1000875930 (22:45201516 G>A,C,T)

Disease associations

OMIM: gene MIM:619709 | disease phenotypes: MIM:606232

GenCC curated gene-disease

Mondo (2): neurodevelopmental disorder (MONDO:0700092), Phelan-McDermid syndrome (MONDO:0011652)

Orphanet (1): Phelan-McDermid syndrome (Orphanet:48652)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST006988_79	Blond vs. brown/black hair color	2.000000e-09
GCST010302_6	Cutaneous melanoma or hair colour	3.000000e-12
GCST010303_51	Nevus count or cutaneous melanoma	2.000000e-10
GCST010304_72	Cutaneous malignant melanoma	1.000000e-09
GCST90002379_173	Basophil count	3.000000e-16
GCST90002380_69	Basophil percentage of white cells	2.000000e-20

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003924	hair color
EFO:0004632	nevus count
EFO:0005090	basophil count
EFO:0007992	basophil percentage of leukocytes

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
C536801	Telomeric 22q13 Monosomy Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects methylation	2
Arsenic	affects methylation, affects cotreatment, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, decreases methylation	1
trichostatin A	affects expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	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, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Benzo(a)pyrene	increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	affects expression	1
Cycloheximide	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Endosulfan	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
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