KCTD14

Summary

KCTD14 (potassium channel tetramerization domain containing 14, HGNC:23295) is a protein-coding gene on chromosome 11q14.1, encoding BTB/POZ domain-containing protein KCTD14 (Q9BQ13).

Predicted to be involved in protein homooligomerization.

Source: NCBI Gene 65987 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_023930

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23295
Approved symbol	KCTD14
Name	potassium channel tetramerization domain containing 14
Location	11q14.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC2376
Ensembl gene	ENSG00000151364
Ensembl biotype	protein_coding
Entrez	65987

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000353172, ENST00000533144

RefSeq mRNA: 2 — MANE Select: NM_023930 NM_001282406, NM_023930

CCDS: CCDS60908, CCDS8255

Canonical transcript exons

ENST00000353172 — 2 exons

Exon	Start	End
ENSE00001286701	78023160	78023276
ENSE00001396819	78015715	78017270

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 91.81.

FANTOM5 (CAGE): breadth broad, TPM avg 3.2884 / max 96.1851, expressed in 742 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121455	3.2884	742

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	91.81	gold quality
right adrenal gland	UBERON:0001233	89.78	gold quality
body of pancreas	UBERON:0001150	89.70	gold quality
right adrenal gland cortex	UBERON:0035827	89.63	gold quality
left adrenal gland	UBERON:0001234	88.67	gold quality
left adrenal gland cortex	UBERON:0035825	88.32	gold quality
adrenal cortex	UBERON:0001235	87.52	gold quality
adrenal gland	UBERON:0002369	86.11	gold quality
pancreas	UBERON:0001264	84.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.14	gold quality
rectum	UBERON:0001052	82.53	gold quality
saliva-secreting gland	UBERON:0001044	82.39	gold quality
pancreatic ductal cell	CL:0002079	82.27	gold quality
body of stomach	UBERON:0001161	81.18	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.83	gold quality
minor salivary gland	UBERON:0001830	80.52	gold quality
epithelium of mammary gland	UBERON:0003244	79.40	gold quality
islet of Langerhans	UBERON:0000006	79.19	gold quality
mucosa of transverse colon	UBERON:0004991	78.78	gold quality
mammary duct	UBERON:0001765	78.76	gold quality
seminal vesicle	UBERON:0000998	78.54	gold quality
right lobe of liver	UBERON:0001114	78.22	gold quality
stomach	UBERON:0000945	78.06	gold quality
gall bladder	UBERON:0002110	77.89	gold quality
metanephros cortex	UBERON:0010533	77.13	gold quality
right lobe of thyroid gland	UBERON:0001119	76.61	gold quality
left lobe of thyroid gland	UBERON:0001120	76.29	gold quality
upper lobe of left lung	UBERON:0008952	76.24	gold quality
left uterine tube	UBERON:0001303	75.84	gold quality
upper lobe of lung	UBERON:0008948	75.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting KCTD14, 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-513A-5P	100.00	69.77	2465
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-548A-3P	99.76	70.58	3524

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	kctd14	ENSDARG00000110240
mus_musculus	Kctd14	ENSMUSG00000051727
rattus_norvegicus	Kctd14	ENSRNOG00000012494
drosophila_melanogaster	twz	FBGN0034636
caenorhabditis_elegans	F32B4.5	WBGENE00009315

Paralogs (13): KCTD1 (ENSG00000134504), KCTD15 (ENSG00000153885), KCTD18 (ENSG00000155729), KCTD6 (ENSG00000168301), KCTD19 (ENSG00000168676), KCTD12 (ENSG00000178695), KCTD4 (ENSG00000180332), KCTD16 (ENSG00000183775), KCTD8 (ENSG00000183783), KCTD21 (ENSG00000188997), KCNRG (ENSG00000198553), KCTD11 (ENSG00000213859), KCTD7 (ENSG00000243335)

Protein

Protein identifiers

BTB/POZ domain-containing protein KCTD14 — Q9BQ13 (reviewed: Q9BQ13)

All UniProt accessions (1): Q9BQ13

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BQ13-1	1	yes
Q9BQ13-2	3b
E9PQ53-1	2, NDUFC2-KCTD14

RefSeq proteins (2): NP_001269335, NP_076419* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR003131	T1-type_BTB	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR057890	KCTD7/14_C	Domain

Pfam: PF02214, PF25611

UniProt features (4 total): chain 1, domain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQ13-F1	86.09	0.62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 151 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_PROTEIN_HOMOOLIGOMERIZATION, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, SENESE_HDAC3_TARGETS_DN, MIKKELSEN_ES_ICP_WITH_H3K4ME3, LEE_BMP2_TARGETS_UP, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_DN, GOBP_PROTEIN_COMPLEX_OLIGOMERIZATION, CAHOY_ASTROCYTIC, TBK1.DF_UP, ATF6_TARGET_GENES, HAND1_TARGET_GENES, HOXB4_TARGET_GENES, MAFG_TARGET_GENES

GO Biological Process (1): protein homooligomerization (GO:0051260)

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein complex oligomerization	1
binding	1

Protein interactions and networks

STRING

306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCTD14	TMEM184A	Q6ZMB5	607
KCTD14	SMIM3	Q9BZL3	514
KCTD14	KCTD20	Q7Z5Y7	489
KCTD14	ACTMAP	Q5BKX5	486
KCTD14	KCTD18	Q6PI47	479
KCTD14	KCTD19	Q17RG1	478
KCTD14	A0A087WUM3	A0A087WUM3	438
KCTD14	KCTD9	Q7L273	433
KCTD14	KCTD11	Q693B1	433
KCTD14	INTS4	Q96HW7	428
KCTD14	BTBD10	Q9BSF8	417
KCTD14	KCNAB3	O43448	415
KCTD14	SPRED3	Q2MJR0	415
KCTD14	CLNS1A	P54105	385
KCTD14	AAMDC	Q9H7C9	375

IntAct

14 interactions, top by confidence:

A	B	Type	Score
KCTD14	STK16	psi-mi:“MI:0915”(physical association)	0.670
STK16	KCTD14	psi-mi:“MI:0915”(physical association)	0.670
TCF4	KCTD14	psi-mi:“MI:0915”(physical association)	0.560
KCTD14	TCF4	psi-mi:“MI:0915”(physical association)	0.560
KCTD14	ACSF3	psi-mi:“MI:0915”(physical association)	0.560
KCTD14	ACSF3	psi-mi:“MI:0914”(association)	0.560
KCTD14	KCTD14	psi-mi:“MI:0915”(physical association)	0.370
KCTD14	IKBKB	psi-mi:“MI:0914”(association)	0.350
AURKB	VWA8	psi-mi:“MI:0914”(association)	0.350
EMID1	NDUFS4	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): KCTD14 (Two-hybrid), KCTD14 (Two-hybrid), KCTD14 (Two-hybrid), ACSF3 (Affinity Capture-MS), TUBGCP6 (Affinity Capture-MS), ACSF3 (Affinity Capture-MS), KCTD14 (Biochemical Activity), KCTD14 (Two-hybrid), TUBGCP6 (Affinity Capture-MS), ACSF3 (Affinity Capture-MS), UBXN6 (Affinity Capture-MS), ANKS1A (Affinity Capture-MS), CHUK (Affinity Capture-MS), COASY (Affinity Capture-MS), DNAAF5 (Affinity Capture-MS)

ESM2 similar proteins: A3KMV1, A4IFB4, A5PKG7, A9ULR9, B1WC97, B5DEL1, O70479, O73916, P0C5J9, Q01820, Q0VD00, Q0VFV7, Q12259, Q13829, Q28DC9, Q2HJ48, Q2T9W0, Q2TUM3, Q3URF8, Q4G0X4, Q5EAX2, Q5F3E8, Q5M956, Q5RBH4, Q5XJ34, Q5ZJP7, Q6DC02, Q6DCX3, Q6DG99, Q6P3P4, Q6P7W2, Q719H9, Q7TNY1, Q7TPL3, Q7Z3E5, Q863D4, Q8BGV7, Q8BJK1, Q8BNL5, Q8K0E1

Diamond homologs: A3KMV1, A4IFB4, A5PKG7, A6H6X4, B1WC97, B5DEL1, D5SHR0, G5EFC3, O65555, P0C5J9, P15388, P17971, P17972, P25122, P48547, P59994, P59995, Q01956, Q03607, Q03719, Q0VD00, Q0VFV7, Q14003, Q14681, Q29RJ0, Q2HJ48, Q2TUM3, Q3URF8, Q4G0X4, Q50H33, Q52PG9, Q54KH0, Q5DTY9, Q5M956, Q5XJ34, Q5ZJP7, Q62897, Q63881, Q63959, Q68DU8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

461 predictions. Top by Δscore:

Variant	Effect	Δscore
11:78023156:TTA:T	donor_loss	1.0000
11:78023157:TA:T	donor_loss	1.0000
11:78023158:A:AC	donor_gain	1.0000
11:78023158:A:T	donor_loss	1.0000
11:78023159:C:CA	donor_loss	1.0000
11:78023159:C:CC	donor_gain	1.0000
11:78017266:GACAT:G	acceptor_gain	0.9900
11:78017267:ACAT:A	acceptor_gain	0.9900
11:78017267:ACATC:A	acceptor_loss	0.9900
11:78017268:CAT:C	acceptor_gain	0.9900
11:78017268:CATC:C	acceptor_gain	0.9900
11:78017268:CATCT:C	acceptor_loss	0.9900
11:78017269:AT:A	acceptor_gain	0.9900
11:78017270:TCT:T	acceptor_loss	0.9900
11:78017270:TCTGG:T	acceptor_loss	0.9900
11:78017271:C:CC	acceptor_gain	0.9900
11:78017271:C:CG	acceptor_loss	0.9900
11:78017271:CTGGG:C	acceptor_loss	0.9900
11:78017272:T:A	acceptor_loss	0.9900
11:78023158:AC:A	donor_gain	0.9900
11:78023159:CC:C	donor_gain	0.9900
11:78023159:CCG:C	donor_gain	0.9900
11:78023154:ACTT:A	donor_loss	0.9800
11:78016868:T:TA	donor_gain	0.9700
11:78023159:CCGT:C	donor_gain	0.9700
11:78023159:CCGTT:C	donor_gain	0.9600
11:78034870:T:A	donor_gain	0.9600
11:78017281:A:T	acceptor_gain	0.9400
11:78017278:C:CT	acceptor_gain	0.9200
11:78046168:A:T	acceptor_gain	0.9100

AlphaMissense

1669 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:78017033:C:G	A110P	0.983
11:78016605:G:C	F252L	0.977
11:78016605:G:T	F252L	0.977
11:78016607:A:G	F252L	0.977
11:78016601:A:G	W254R	0.973
11:78016601:A:T	W254R	0.973
11:78016598:A:G	W255R	0.970
11:78016598:A:T	W255R	0.970
11:78016758:A:C	F201L	0.969
11:78016758:A:T	F201L	0.969
11:78016760:A:G	F201L	0.969
11:78016606:A:G	F252S	0.968
11:78016974:A:C	F129L	0.966
11:78016974:A:T	F129L	0.966
11:78016976:A:G	F129L	0.966
11:78016599:C:A	W254C	0.962
11:78016599:C:G	W254C	0.962
11:78017025:G:C	F112L	0.961
11:78017025:G:T	F112L	0.961
11:78017027:A:G	F112L	0.961
11:78016957:C:G	R135P	0.959
11:78016891:C:G	R157P	0.958
11:78016894:G:T	A156E	0.958
11:78017032:G:T	A110D	0.958
11:78017080:C:G	R94P	0.958
11:78016596:C:A	W255C	0.957
11:78016596:C:G	W255C	0.957
11:78016865:A:G	S166P	0.956
11:78017103:G:C	F86L	0.951
11:78017103:G:T	F86L	0.951

dbSNP variants (sampled 300 via entrez): RS1000233296 (11:78032773 T>G), RS1000364909 (11:78026534 C>T), RS1000403569 (11:78032138 G>A), RS1000609121 (11:78038501 T>C), RS1000661311 (11:78038668 T>A), RS1000699352 (11:78027879 C>G), RS1000762983 (11:78019768 A>C), RS1000911355 (11:78043973 C>T), RS1000935612 (11:78021908 C>G,T), RS1000981923 (11:78015745 T>C), RS1001051128 (11:78039088 C>A), RS1001105605 (11:78016242 A>C), RS1001138754 (11:78033464 T>A), RS1001154050 (11:78029420 G>A,T), RS1001157847 (11:78015996 C>A)

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

2 associations (top):

Study	Trait	p-value
GCST005359_17	Disease progression in age-related macular degeneration	5.000000e-06
GCST007277_15	Tourette syndrome	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008336	disease progression measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
Valproic Acid	increases expression, affects cotreatment	3
Benzo(a)pyrene	increases expression, increases methylation	2
Cyclosporine	increases expression	2
Cadmium Chloride	decreases expression	2
methylmercuric chloride	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	decreases expression	1
entinostat	increases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Amiodarone	increases expression	1
Copper	affects binding, decreases expression	1
Mustard Gas	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Quercetin	decreases expression	1
Silver	decreases expression	1
Smoke	increases expression	1
Urethane	decreases expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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