TEX14

Summary

TEX14 (testis expressed 14, intercellular bridge forming factor, HGNC:11737) is a protein-coding gene on chromosome 17q22, encoding Inactive serine/threonine-protein kinase TEX14 (Q8IWB6). Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis.

The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 56155 — RefSeq curated summary.

At a glance

• Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Supportive, GenCC)
• GWAS associations: 16
• Clinical variants (ClinVar): 305 total — 8 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 10
• MANE Select transcript: NM_031272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11737
Approved symbol	TEX14
Name	testis expressed 14, intercellular bridge forming factor
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	CT113, SgK307
Ensembl gene	ENSG00000121101
Ensembl biotype	protein_coding
OMIM	605792
Entrez	56155

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000240361, ENST00000349033, ENST00000389934, ENST00000581147, ENST00000582740, ENST00000584699, ENST00000917420

RefSeq mRNA: 3 — MANE Select: NM_031272 NM_001201457, NM_031272, NM_198393

CCDS: CCDS32692, CCDS32693, CCDS56042

Canonical transcript exons

ENST00000349033 — 32 exons

Exon	Start	End
ENSE00001013325	58617538	58617619
ENSE00001410784	58651866	58652002
ENSE00002689894	58556678	58557047
ENSE00002720976	58691939	58692045
ENSE00003461933	58584500	58584600
ENSE00003465209	58621650	58621786
ENSE00003472806	58574187	58574249
ENSE00003487373	58577375	58577456
ENSE00003498474	58573181	58573308
ENSE00003504469	58593555	58593661
ENSE00003514134	58611161	58611339
ENSE00003541339	58579665	58579731
ENSE00003543653	58630440	58630554
ENSE00003549150	58561520	58561612
ENSE00003551078	58587581	58587666
ENSE00003553524	58602400	58602590
ENSE00003559696	58569192	58569260
ENSE00003572176	58616175	58616305
ENSE00003581829	58613421	58613544
ENSE00003582412	58587896	58588021
ENSE00003583819	58622847	58623012
ENSE00003585200	58570385	58570484
ENSE00003597285	58565747	58565824
ENSE00003598770	58585801	58586082
ENSE00003599641	58604978	58605129
ENSE00003608717	58598876	58599666
ENSE00003625822	58615232	58615345
ENSE00003642306	58571921	58572126
ENSE00003647020	58557799	58557850
ENSE00003660003	58601806	58601956
ENSE00003660920	58559453	58559562
ENSE00003661674	58564869	58564968

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 92.29.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8154 / max 94.7278, expressed in 335 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167310	1.1580	269
167309	0.5408	91
167307	0.1101	9
167306	0.0203	5
167308	0.0066	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	92.29	gold quality
left testis	UBERON:0004533	91.99	gold quality
testis	UBERON:0000473	90.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.01	gold quality
oocyte	CL:0000023	89.74	gold quality
secondary oocyte	CL:0000655	88.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.75	gold quality
sperm	CL:0000019	85.97	gold quality
adult organism	UBERON:0007023	85.04	gold quality
male germ cell	CL:0000015	84.95	gold quality
cerebellar cortex	UBERON:0002129	68.02	gold quality
cerebellar hemisphere	UBERON:0002245	67.97	gold quality
cerebellum	UBERON:0002037	66.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	66.33	gold quality
right lung	UBERON:0002167	66.04	gold quality
granulocyte	CL:0000094	65.11	gold quality
monocyte	CL:0000576	63.66	gold quality
mononuclear cell	CL:0000842	63.53	gold quality
leukocyte	CL:0000738	63.03	gold quality
right lobe of liver	UBERON:0001114	60.64	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	59.73	gold quality
spleen	UBERON:0002106	59.16	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	58.03	gold quality
amygdala	UBERON:0001876	57.97	gold quality
putamen	UBERON:0001874	57.91	gold quality
spinal cord	UBERON:0002240	57.85	gold quality
hypothalamus	UBERON:0001898	57.43	gold quality
upper lobe of left lung	UBERON:0008952	57.36	gold quality
lower esophagus mucosa	UBERON:0035834	57.09	gold quality
bone marrow cell	CL:0002092	56.95	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting TEX14, 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-4795-3P	100.00	74.62	4024
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-6895-5P	97.05	64.96	522
HSA-MIR-6800-3P	96.15	65.16	461
HSA-MIR-758-5P	93.99	64.46	534

Literature-anchored findings (GeneRIF, showing 7)

• TEX14 is specifically expressed in testis (PMID:11279525)
• TEX14, also known as SgK307, contains a variant and probably inactive protein kinase domain and N-terminal ankyrin repeats. (PMID:12471243)
• TEX14 prevents the completion of cytokinesis by altering the destiny of CEP55 from a nidus for abscission to an integral component of the intercellular bridge. (PMID:20176808)
• Tex14 is an important mediator of kinetochore structure and function and the fidelity of chromosome separation. (PMID:22405274)
• This result suggests that regular expression of TEX11, TEX12, TEX14 and TEX15 is essential for the early stages of spermatogenesis. (PMID:29932616)
• Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia. (PMID:33728612)
• Inhibition mechanism of testis-expressed gene 14 (TEX14) in cytokinetic abscission: Well-tempered metadynamics simulation studies. (PMID:37409705)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tex14	ENSMUSG00000010342
rattus_norvegicus	Tex14	ENSRNOG00000023698

Protein

Protein identifiers

Inactive serine/threonine-protein kinase TEX14 — Q8IWB6 (reviewed: Q8IWB6)

Alternative names: Protein kinase-like protein SgK307, Sugen kinase 307, Testis-expressed sequence 14, Testis-expressed sequence 14 protein

All UniProt accessions (3): J3QKU8, J3QLK3, Q8IWB6

UniProt curated annotations — full annotation on UniProt →

Function. Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell abscission and leading to transform midbodies into intercellular bridges. Also plays a role during mitosis: recruited to kinetochores by PLK1 during early mitosis and regulates the maturation of the outer kinetochores and microtubule attachment. Has no protein kinase activity in vitro.

Subunit / interactions. Interacts with KIF23 and RBM44. Interacts with CEP55; inhibiting interaction between CEP55 and PDCD6IP/ALIX and TSG101.

Subcellular location. Cytoplasm. Midbody. Chromosome. Centromere. Kinetochore.

Tissue specificity. Expression restricted to testis.

Post-translational modifications. Phosphorylated on Thr residues by CDK1 during early phases of mitosis, promoting the interaction with PLK1 and recruitment to kinetochores. Phosphorylated on Ser-437 by PLK1 during late prometaphase promotes the rapid depletion from kinetochores and its subsequent degradation by the APC/C complex.

Disease relevance. Spermatogenic failure 23 (SPGF23) [MIM:617707] An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The protein kinase domain is predicted to be catalytically inactive. The GPPX3Y motif mediates interaction with CEP55.

Similarity. Belongs to the protein kinase superfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IWB6-1	1	yes
Q8IWB6-2	2
Q8IWB6-3	3

RefSeq proteins (3): NP_001188386, NP_112562, NP_938207 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039339	Tex14	Family

Pfam: PF07714, PF12796

UniProt features (39 total): modified residue 8, compositionally biased region 6, sequence variant 5, region of interest 4, repeat 3, short sequence motif 2, binding site 2, splice variant 2, mutagenesis site 2, sequence conflict 2, chain 1, strand 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3WUT	X-RAY DIFFRACTION	2.3
3WUU	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWB6-F1	50.95	0.21

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 (2): 233–241; 273

Post-translational modifications (8): 175, 437, 567, 665, 1106, 1404, 1459, 1496

Mutagenesis-validated functional residues (2):

Position	Phenotype
614–618	in pbd-1; reduced ability to interact with plk1.
726–728	in pbd-5; reduced ability to interact with plk1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 190 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, ATF_B, GOBP_CHROMOSOME_ORGANIZATION, GOBP_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE, GOBP_NEGATIVE_REGULATION_OF_CELL_DIVISION, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CHROMOSOME_LOCALIZATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_CHROMOSOME_SEPARATION, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, CREB_Q4

GO Biological Process (9): mitotic spindle assembly checkpoint signaling (GO:0007094), male meiotic nuclear division (GO:0007140), attachment of spindle microtubules to kinetochore (GO:0008608), negative regulation of cytokinesis (GO:0032466), intercellular bridge organization (GO:0043063), cell division (GO:0051301), mitotic sister chromatid separation (GO:0051306), cellular response to leukemia inhibitory factor (GO:1990830), protein phosphorylation (GO:0006468)

GO Molecular Function (5): protein kinase activity (GO:0004672), ATP binding (GO:0005524), protein kinase binding (GO:0019901), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (7): kinetochore (GO:0000776), cytoplasm (GO:0005737), midbody (GO:0030496), intercellular bridge (GO:0045171), extracellular exosome (GO:0070062), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular membraneless organelle	2
mitotic cell cycle	1
negative regulation of mitotic metaphase/anaphase transition	1
spindle assembly checkpoint signaling	1
mitotic spindle checkpoint signaling	1
male gamete generation	1
meiotic cell cycle	1
meiotic nuclear division	1
microtubule binding	1
cell cycle process	1
metaphase chromosome alignment	1
cytokinesis	1
negative regulation of cell cycle process	1
regulation of cytokinesis	1
negative regulation of cell division	1
extracellular structure organization	1
cellular process	1
mitotic sister chromatid segregation	1
chromosome separation	1
mitotic cell cycle process	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
phosphorylation	1
protein modification process	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
kinase binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
intracellular anatomical structure	1
extracellular vesicle	1
chromosomal region	1

Protein interactions and networks

STRING

886 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEX14	RBM44	Q6ZP01	757
TEX14	CEP55	Q53EZ4	691
TEX14	TEX11	Q8IYF3	545
TEX14	TEX15	Q9BXT5	540
TEX14	DMRT1	Q9Y5R6	475
TEX14	MEIOB	Q8N635	447
TEX14	PPM1E	Q8WY54	447
TEX14	ZNF837	Q96EG3	446
TEX14	PMF1	Q6P1K2	434
TEX14	DAZL	Q92904	431
TEX14	A0A087WT04	A0A087WT04	430
TEX14	DNAH6	Q9C0G6	409
TEX14	CIMAP1A	Q96PU9	397
TEX14	SYCE1	Q8N0S2	394
TEX14	SPAG8	Q99932	390

IntAct

22 interactions, top by confidence:

A	B	Type	Score
CEP55	TEX14	psi-mi:“MI:0915”(physical association)	0.720
TEX14	LHX3	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	TEX14	psi-mi:“MI:0915”(physical association)	0.560
TEX14	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
LMO4	TEX14	psi-mi:“MI:0915”(physical association)	0.560
TEX14	PDIA3	psi-mi:“MI:0915”(physical association)	0.400
TEX14	DNAJB6	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
TEX14	MEOX2	psi-mi:“MI:0915”(physical association)	0.000
TEX14	LHX3	psi-mi:“MI:0915”(physical association)	0.000
TEX14	DDIT4L	psi-mi:“MI:0915”(physical association)	0.000
TEX14	LMO4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): TEX14 (Affinity Capture-Western), TEX14 (Two-hybrid), TEX14 (Two-hybrid), LMO4 (Two-hybrid), DDIT4L (Two-hybrid), TEX14 (Proximity Label-MS), DNAJB6 (Affinity Capture-MS), LYPD3 (Affinity Capture-MS), CRYAB (Affinity Capture-MS), LMNA (Affinity Capture-MS), LTF (Affinity Capture-MS), ANXA1 (Affinity Capture-MS), HSPB1 (Affinity Capture-MS), GSN (Affinity Capture-MS), CTSG (Affinity Capture-MS)

ESM2 similar proteins: A0A0D9SF12, A2A8T7, A6H7E2, A6NF36, A6NFA0, A6NI87, E1C7U0, P03246, P03247, P0DO92, P14355, P14683, Q0VG49, Q1HVF6, Q32LN6, Q3KPU7, Q3KSS3, Q4V7D2, Q4ZG55, Q5DU28, Q5JX69, Q5JX71, Q5R7E2, Q5U4U4, Q642A3, Q6NRW0, Q6P1U0, Q6P4J6, Q6P9N1, Q6PEX7, Q6X4T0, Q7L3B6, Q7SYV9, Q7T346, Q80Y73, Q8BJS8, Q8CF25, Q8IWB6, Q8N6T0, Q8NCU1

Diamond homologs: A0A084B9Z8, A2AS55, A4II29, A6NGH8, B4E2M5, F1MJR8, O14593, O75762, Q337A0, Q3KP44, Q3SX00, Q3V096, Q499M5, Q4UMP3, Q54HW1, Q5R8C8, Q5RCK5, Q5U5A6, Q5ZLC8, Q6RI86, Q7T3X9, Q7T3Y0, Q7Z6K4, Q86W74, Q86WC6, Q875S9, Q876L4, Q8BLA8, Q8BLD6, Q8BTI7, Q8C0T1, Q8IWB6, Q91ZA8, Q91ZU0, Q96KQ7, Q9BGT9, Q9BZL4, Q9D119, Q9H672, Q9JRZ6

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
CDK1	“down-regulates quantity by destabilization”	TEX14	phosphorylation
PLK1	“down-regulates quantity by destabilization”	TEX14	phosphorylation
CDK1	“up-regulates activity”	TEX14	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	6
Uncertain significance	212
Likely benign	41
Benign	12

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1244237	NM_031272.5(TEX14):c.3625_3628del (p.Ser1209fs)	Pathogenic
1244239	NM_031272.5(TEX14):c.3168C>A (p.Tyr1056Ter)	Pathogenic
1244240	NM_031272.5(TEX14):c.2944C>T (p.Gln982Ter)	Pathogenic
1244242	NM_031272.5(TEX14):c.3549C>A (p.Cys1183Ter)	Pathogenic
1244245	NM_031272.5(TEX14):c.3482_3486del (p.Pro1161fs)	Pathogenic
440758	NM_031272.5(TEX14):c.2650_2660del (p.Ser884fs)	Pathogenic
635288	NM_031272.5(TEX14):c.254G>T (p.Arg85Leu)	Pathogenic
685922	GRCh37/hg19 17q22(chr17:56721367-56766202)x1	Pathogenic
1244238	NM_031272.5(TEX14):c.1490T>C (p.Leu497Pro)	Likely pathogenic
2441771	NM_031272.5(TEX14):c.3652A>T (p.Arg1218Ter)	Likely pathogenic
3780705	NM_031272.5(TEX14):c.4267+1G>A	Likely pathogenic
427857	Single allele	Likely pathogenic
4845706	NM_031272.5(TEX14):c.899dup (p.Tyr300Ter)	Likely pathogenic
4849375	NM_031272.5(TEX14):c.2943G>A (p.Trp981Ter)	Likely pathogenic

SpliceAI

6579 predictions. Top by Δscore:

Variant	Effect	Δscore
17:58557860:A:AC	acceptor_gain	1.0000
17:58557860:A:C	acceptor_gain	1.0000
17:58557862:A:C	acceptor_gain	1.0000
17:58561611:CT:C	acceptor_gain	1.0000
17:58564836:AAAT:A	donor_gain	1.0000
17:58564839:T:TA	donor_gain	1.0000
17:58564860:T:A	donor_gain	1.0000
17:58564969:C:CC	acceptor_gain	1.0000
17:58569268:T:C	acceptor_gain	1.0000
17:58569268:T:TC	acceptor_gain	1.0000
17:58571913:ATACT:A	donor_loss	1.0000
17:58571914:TACTT:T	donor_loss	1.0000
17:58571915:ACTTA:A	donor_loss	1.0000
17:58571916:CTT:C	donor_loss	1.0000
17:58571917:TTACA:T	donor_loss	1.0000
17:58571919:A:AC	donor_gain	1.0000
17:58571919:ACA:A	donor_loss	1.0000
17:58571920:C:CT	donor_gain	1.0000
17:58571920:CAAG:C	donor_gain	1.0000
17:58571920:CAAGA:C	donor_gain	1.0000
17:58572125:CC:C	acceptor_gain	1.0000
17:58572126:CC:C	acceptor_gain	1.0000
17:58572127:C:G	acceptor_loss	1.0000
17:58573246:T:TA	donor_gain	1.0000
17:58574130:C:A	donor_gain	1.0000
17:58574134:TAAA:T	donor_gain	1.0000
17:58574135:AAAA:A	donor_gain	1.0000
17:58574146:TTTA:T	donor_gain	1.0000
17:58574147:TTAC:T	donor_gain	1.0000
17:58574158:T:TA	donor_gain	1.0000

AlphaMissense

9582 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:58605009:G:C	S441R	0.995
17:58605009:G:T	S441R	0.995
17:58605011:T:G	S441R	0.995
17:58611229:G:C	S378R	0.993
17:58611229:G:T	S378R	0.993
17:58611231:T:G	S378R	0.993
17:58622880:C:A	W128C	0.992
17:58622880:C:G	W128C	0.992
17:58630508:A:C	F61L	0.991
17:58630508:A:T	F61L	0.991
17:58630510:A:G	F61L	0.991
17:58615322:A:T	V270D	0.990
17:58630532:G:C	N53K	0.990
17:58630532:G:T	N53K	0.990
17:58622970:A:C	F98L	0.989
17:58622970:A:T	F98L	0.989
17:58622972:A:G	F98L	0.989
17:58605068:A:G	W422R	0.988
17:58605068:A:T	W422R	0.988
17:58611272:A:G	L364P	0.988
17:58615312:T:A	K273N	0.988
17:58615312:T:G	K273N	0.988
17:58622882:A:G	W128R	0.988
17:58622882:A:T	W128R	0.988
17:58622986:A:T	V93D	0.988
17:58622989:G:T	P92H	0.988
17:58613473:A:G	L324P	0.987
17:58613510:C:G	A312P	0.987
17:58622981:C:G	A95P	0.986
17:58611263:A:G	L367P	0.983

dbSNP variants (sampled 300 via entrez): RS1000008606 (17:58570719 G>A), RS1000012530 (17:58655780 G>A,C), RS1000066229 (17:58655493 T>C), RS1000074981 (17:58681575 C>G,T), RS1000075235 (17:58613902 G>A), RS1000113630 (17:58692732 C>A,G,T), RS1000165397 (17:58590616 C>T), RS1000168479 (17:58690927 C>A,G,T), RS1000174672 (17:58632851 A>G), RS1000193120 (17:58608293 T>C), RS1000208919 (17:58649232 A>G), RS1000216172 (17:58670203 T>A,C), RS1000224396 (17:58608112 A>C), RS1000232972 (17:58635759 A>C,G), RS1000259178 (17:58590326 G>A,C)

Disease associations

OMIM: gene MIM:605792 | disease phenotypes: MIM:617707, MIM:613399

GenCC curated gene-disease

Disease	Classification	Inheritance
male infertility with azoospermia or oligozoospermia due to single gene mutation	Supportive	Autosomal dominant

Mondo (4): prostate cancer (MONDO:0008315), spermatogenic failure 23 (MONDO:0054727), breast-ovarian cancer, familial, susceptibility to, 3 (MONDO:0013253), (MONDO:0018393)

Orphanet (3): Familial prostate cancer (Orphanet:1331), Male infertility with azoospermia or oligozoospermia due to single gene mutation (Orphanet:399805), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

10 total (10 of 10 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000118	Phenotypic abnormality
HP:0000837	Increased circulating gonadotropin level
HP:0003251	Male infertility
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011462	Young adult onset
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST002022_6	Testicular germ cell tumor	3.000000e-09
GCST002023_1	Testicular germ cell tumor	4.000000e-13
GCST002030_11	Primary tooth development (time to first tooth eruption)	2.000000e-09
GCST002677_4	Iron status biomarkers (ferritin levels)	2.000000e-10
GCST002774_29	Cognitive function	3.000000e-07
GCST002855_6	Testicular germ cell tumor	4.000000e-06
GCST004635_36	Testicular germ cell tumor	3.000000e-20
GCST004713_36	Testicular germ cell tumor	2.000000e-14
GCST006867_78	Type 2 diabetes	2.000000e-08
GCST007576_148	Chronotype	2.000000e-09
GCST008058_37	Estimated glomerular filtration rate	1.000000e-10
GCST008059_165	Estimated glomerular filtration rate	1.000000e-10
GCST010002_126	Refractive error	7.000000e-42
GCST90000050_77	Age at first birth	2.000000e-09
GCST90002398_308	Neutrophil count	1.000000e-15
GCST90002407_144	White blood cell count	7.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004459	ferritin measurement
EFO:0004461	iron biomarker measurement
EFO:0004337	intelligence
EFO:0008328	chronotype measurement
EFO:0009101	age at first birth measurement
EFO:0004833	neutrophil count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — NKF5 family

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	3
Benzo(a)pyrene	affects methylation, increases methylation	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
mivebresib	increases expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Allergens	decreases expression	1
Arsenic	affects methylation	1
Folic Acid	decreases expression	1
Silicon Dioxide	increases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Urethane	increases expression	1
Valproic Acid	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer