KIAA1614

Summary

KIAA1614 (HGNC:29327) is a protein-coding gene on chromosome 1q25.3, encoding Uncharacterized protein KIAA1614 (Q5VZ46).

Predicted to be involved in centrosome cycle; establishment or maintenance of cell polarity; and regulation of cellular localization. Predicted to be active in apical plasma membrane; cell cortex; and nucleus.

Source: NCBI Gene 57710 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 236 total
• MANE Select transcript: NM_020950

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29327
Approved symbol	KIAA1614
Name	KIAA1614
Location	1q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000135835
Ensembl biotype	protein_coding
Entrez	57710

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000367587, ENST00000367588, ENST00000461346, ENST00000483705, ENST00000496210, ENST00000713623, ENST00000713624, ENST00000713625

RefSeq mRNA: 2 — MANE Select: NM_020950 NM_001427641, NM_020950

CCDS: CCDS41442

Canonical transcript exons

ENST00000367588 — 9 exons

Exon	Start	End
ENSE00000922048	180916154	180917100
ENSE00000922049	180917851	180917914
ENSE00000922050	180928430	180928573
ENSE00000922051	180935115	180936670
ENSE00001445086	180912897	180913293
ENSE00004020499	180944389	180944516
ENSE00004020500	180945303	180951614
ENSE00004020503	180938555	180938711
ENSE00004020508	180941045	180941285

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 87.09.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9363 / max 161.6740, expressed in 231 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6972	0.3196	171
6975	0.1663	39
6978	0.1438	13
6973	0.1121	45
6974	0.0886	36
6977	0.0538	11
6976	0.0522	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cervix squamous epithelium	UBERON:0006922	87.09	gold quality
buccal mucosa cell	CL:0002336	85.35	silver quality
right hemisphere of cerebellum	UBERON:0014890	83.80	gold quality
cerebellar hemisphere	UBERON:0002245	83.59	gold quality
cerebellar cortex	UBERON:0002129	83.35	gold quality
sural nerve	UBERON:0015488	82.52	gold quality
sperm	CL:0000019	82.11	gold quality
tendon of biceps brachii	UBERON:0008188	82.10	gold quality
cerebellum	UBERON:0002037	81.56	gold quality
stromal cell of endometrium	CL:0002255	81.01	gold quality
apex of heart	UBERON:0002098	80.21	gold quality
cervix epithelium	UBERON:0004801	79.54	gold quality
male germ cell	CL:0000015	79.43	gold quality
lower esophagus muscularis layer	UBERON:0035833	79.24	gold quality
lower esophagus	UBERON:0013473	79.16	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.26	gold quality
popliteal artery	UBERON:0002250	77.70	gold quality
tibial artery	UBERON:0007610	77.69	gold quality
muscle layer of sigmoid colon	UBERON:0035805	77.24	gold quality
body of uterus	UBERON:0009853	77.18	gold quality
right atrium auricular region	UBERON:0006631	77.06	gold quality
aorta	UBERON:0000947	76.88	gold quality
right coronary artery	UBERON:0001625	76.65	gold quality
mucosa of stomach	UBERON:0001199	76.46	gold quality
descending thoracic aorta	UBERON:0002345	76.35	gold quality
left uterine tube	UBERON:0001303	76.27	gold quality
ascending aorta	UBERON:0001496	76.22	gold quality
thoracic aorta	UBERON:0001515	76.20	gold quality
right frontal lobe	UBERON:0002810	76.09	gold quality
endocervix	UBERON:0000458	76.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting KIAA1614, 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-6778-3P	99.96	67.29	2693
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-411-5P	97.11	66.82	601
HSA-MIR-3135A	96.41	65.30	494
HSA-MIR-4296	96.35	63.55	1233

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-121a11.3	ENSDARG00000071458
danio_rerio	si:ch211-13f8.1	ENSDARG00000093342
mus_musculus	BC034090	ENSMUSG00000033722
rattus_norvegicus	Kiaa1614	ENSRNOG00000000040

Paralogs (2): COX16 (ENSG00000133983), SYNJ2BP (ENSG00000213463)

Protein

Protein identifiers

Uncharacterized protein KIAA1614 — Q5VZ46 (reviewed: Q5VZ46)

All UniProt accessions (6): A0A1W2PNT5, A0A1W2PPL5, A0AAQ5BGG4, A0AAQ5BGH9, A0AAQ5BGJ5, Q5VZ46

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q5VZ46-1	1	yes
Q5VZ46-2	2

RefSeq proteins (2): NP_001414570, NP_066001* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032756	DUF4685	Domain
IPR051741	PAR6_homolog	Family

Pfam: PF15737

UniProt features (33 total): compositionally biased region 13, region of interest 11, sequence variant 5, sequence conflict 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VZ46-F1	42.95	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 46 (showing top): GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOCC_APICAL_PLASMA_MEMBRANE, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOCC_APICAL_PART_OF_CELL, GRYDER_PAX3FOXO1_TOP_ENHANCERS, GOCC_PLASMA_MEMBRANE_REGION, GOBP_CELL_CYCLE_PROCESS, DODD_NASOPHARYNGEAL_CARCINOMA_DN, chr1q25, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION, GRYDER_PAX3FOXO1_ENHANCERS_KO_DOWN, GOBP_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MIR6778_3P

GO Biological Process (3): centrosome cycle (GO:0007098), establishment or maintenance of cell polarity (GO:0007163), regulation of cellular localization (GO:0060341)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cell cortex (GO:0005938), apical plasma membrane (GO:0016324)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell cycle process	1
microtubule organizing center organization	1
cellular process	1
regulation of localization	1
regulation of cellular process	1
cellular localization	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cell periphery	1
apical part of cell	1
plasma membrane region	1

Protein interactions and networks

STRING

1607 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA1614	FAM217B	Q9NTX9	693
KIAA1614	RIBC2	Q9H4K1	450
KIAA1614	RBBP8NL	Q8NC74	434
KIAA1614	POFUT2	Q9Y2G5	431
KIAA1614	TPBGL	P0DKB5	400
KIAA1614	C21orf58	P58505	399
KIAA1614	INSYN2A	Q6ZSG2	378
KIAA1614	TMEM184C	Q9NVA4	372
KIAA1614	TIGD3	Q6B0B8	372
KIAA1614	FAM186A	A6NE01	363
KIAA1614	EFCAB5	A4FU69	353
KIAA1614	EML3	Q32P44	351
KIAA1614	SERP2	Q8N6R1	349
KIAA1614	SDR42E1	Q8WUS8	348
KIAA1614	TSTD1	Q8NFU3	348
KIAA1614	C2CD2	Q9Y426	348

IntAct

3 interactions, top by confidence:

A	B	Type	Score
KIAA1614	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
PTPRR	TCP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): KIAA1614 (Affinity Capture-MS), KIAA1614 (Affinity Capture-MS), HIST1H2BH (Proximity Label-MS), KIAA1614 (Proximity Label-MS)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	207
Likely benign	18
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2087 predictions. Top by Δscore:

Variant	Effect	Δscore
1:180913293:AGT:A	donor_loss	1.0000
1:180913294:G:GG	donor_gain	1.0000
1:180931730:T:G	donor_gain	1.0000
1:180945289:T:TA	acceptor_gain	1.0000
1:180945290:G:A	acceptor_gain	1.0000
1:180945300:CA:C	acceptor_loss	1.0000
1:180945301:A:AC	acceptor_loss	1.0000
1:180945301:A:AG	acceptor_gain	1.0000
1:180945301:AG:A	acceptor_gain	1.0000
1:180945301:AGGCC:A	acceptor_gain	1.0000
1:180945302:G:GG	acceptor_gain	1.0000
1:180945302:GG:G	acceptor_gain	1.0000
1:180945302:GGC:G	acceptor_gain	1.0000
1:180945302:GGCC:G	acceptor_gain	1.0000
1:180945302:GGCCG:G	acceptor_gain	1.0000
1:180945485:CAGG:C	donor_loss	1.0000
1:180945486:AGG:A	donor_loss	1.0000
1:180945489:T:G	donor_loss	1.0000
1:180913289:CCCCA:C	donor_gain	0.9900
1:180913290:CCCA:C	donor_gain	0.9900
1:180913291:CCA:C	donor_gain	0.9900
1:180913292:CA:C	donor_gain	0.9900
1:180913296:GAGTA:G	donor_loss	0.9900
1:180913298:G:GG	donor_gain	0.9900
1:180913306:G:GT	donor_gain	0.9900
1:180917841:T:TA	acceptor_gain	0.9900
1:180917849:A:AG	acceptor_gain	0.9900
1:180917850:G:GG	acceptor_gain	0.9900
1:180928389:A:AG	acceptor_gain	0.9900
1:180928401:A:AG	acceptor_gain	0.9900

AlphaMissense

7603 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:180935263:T:C	F452L	0.994
1:180935265:T:A	F452L	0.994
1:180935265:T:G	F452L	0.994
1:180945451:T:C	F1146L	0.994
1:180945453:C:A	F1146L	0.994
1:180945453:C:G	F1146L	0.994
1:180945452:T:C	F1146S	0.990
1:180935264:T:C	F452S	0.986
1:180935264:T:G	F452C	0.985
1:180945445:T:C	F1144L	0.982
1:180945447:C:A	F1144L	0.982
1:180945447:C:G	F1144L	0.982
1:180945416:T:C	L1134P	0.978
1:180945394:T:C	F1127L	0.976
1:180945396:C:A	F1127L	0.976
1:180945396:C:G	F1127L	0.976
1:180917005:G:C	R301P	0.974
1:180945452:T:G	F1146C	0.970
1:180916361:G:C	K86N	0.966
1:180916361:G:T	K86N	0.966
1:180945404:G:T	G1130V	0.962
1:180941208:A:C	S1028R	0.960
1:180941210:T:A	S1028R	0.960
1:180941210:T:G	S1028R	0.960
1:180935263:T:A	F452I	0.956
1:180935263:T:G	F452V	0.954
1:180916376:G:C	K91N	0.949
1:180916376:G:T	K91N	0.949
1:180945422:T:C	L1136P	0.949
1:180941202:A:C	S1026R	0.948

dbSNP variants (sampled 300 via entrez): RS1000003037 (1:180918232 G>A,C), RS1000004522 (1:180928269 C>T), RS1000110127 (1:180913423 T>C,G), RS1000126344 (1:180925072 C>G), RS1000141223 (1:180913689 A>G), RS1000159288 (1:180924724 C>A,G), RS1000311632 (1:180930100 C>A), RS1000349183 (1:180934340 G>A), RS1000381820 (1:180934465 C>A,T), RS1000496152 (1:180923431 C>A), RS1000613655 (1:180929053 C>T), RS1000633000 (1:180928353 C>T), RS1000694810 (1:180922479 C>G), RS1000840178 (1:180939217 C>G,T), RS1000880451 (1:180940857 A>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST006979_963	Heel bone mineral density	1.000000e-10
GCST007876_40	Estimated glomerular filtration rate	8.000000e-13
GCST008058_143	Estimated glomerular filtration rate	9.000000e-15
GCST008059_47	Estimated glomerular filtration rate	9.000000e-14
GCST011155_20	Nontraumatic osteonecrosis of the femoral head	6.000000e-06
GCST90000025_784	Appendicular lean mass	2.000000e-18
GCST90002393_166	Monocyte count	7.000000e-14
GCST90002400_529	Plateletcrit	2.000000e-11
GCST90002402_504	Platelet count	2.000000e-09
GCST90002407_16	White blood cell count	3.000000e-12
GCST90011900_26	Serum alkaline phosphatase levels	1.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:1001930	idiopathic osteonecrosis of the femoral head
EFO:0004980	appendicular lean mass
EFO:0005091	monocyte count
EFO:0007985	platelet crit
EFO:0004309	platelet count
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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
dimethylselenide	increases expression, increases oxidation	1
tetrabromobisphenol A	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
monomethylarsonous acid	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Niclosamide	decreases expression	1
Ozone	increases expression, increases oxidation	1
Plant Extracts	decreases expression, affects cotreatment	1
Smoke	decreases expression	1
Reactive Oxygen Species	increases expression, increases oxidation	1
Hydroxyl Radical	increases expression, increases oxidation	1
Okadaic Acid	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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