Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	56155
Gene name	Testis expressed 14, intercellular bridge forming factor
Gene symbol	TEX14
Synonyms (NCBI Gene)	CT113SPGF23SgK307
Chromosome	17
Chromosome location	17q22
Summary	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.[provided by RefSeq, Jan 2011]

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35551271	G>C	Likely-pathogenic, benign	5 prime UTR variant, missense variant, coding sequence variant
rs147575609	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs761592042	C>A,T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1555568575	CCGGTGGCTTG>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments
MIRT1419170	hsa-miR-3688-5p	CLIP-seq
MIRT1419171	hsa-miR-4474-3p	CLIP-seq
MIRT1419172	hsa-miR-4796-5p	CLIP-seq
MIRT1419173	hsa-miR-885-3p	CLIP-seq
MIRT1419174	hsa-miR-1197	CLIP-seq
MIRT1419175	hsa-miR-3136-5p	CLIP-seq
MIRT1419176	hsa-miR-345	CLIP-seq
MIRT1419177	hsa-miR-3609	CLIP-seq
MIRT1419178	hsa-miR-3672	CLIP-seq
MIRT1419179	hsa-miR-371-5p	CLIP-seq
MIRT1419180	hsa-miR-3942-3p	CLIP-seq
MIRT1419181	hsa-miR-4436a	CLIP-seq
MIRT1419182	hsa-miR-4439	CLIP-seq
MIRT1419183	hsa-miR-4513	CLIP-seq
MIRT1419184	hsa-miR-510	CLIP-seq
MIRT1419185	hsa-miR-520g	CLIP-seq
MIRT1419186	hsa-miR-520h	CLIP-seq
MIRT1419187	hsa-miR-548ah	CLIP-seq
MIRT1419188	hsa-miR-600	CLIP-seq
MIRT1419189	hsa-miR-888	CLIP-seq
MIRT1419177	hsa-miR-3609	CLIP-seq
MIRT1419170	hsa-miR-3688-5p	CLIP-seq
MIRT1419171	hsa-miR-4474-3p	CLIP-seq
MIRT1419185	hsa-miR-520g	CLIP-seq
MIRT1419186	hsa-miR-520h	CLIP-seq
MIRT1419187	hsa-miR-548ah	CLIP-seq
MIRT1419173	hsa-miR-885-3p	CLIP-seq
MIRT2461319	hsa-miR-1253	CLIP-seq
MIRT2461320	hsa-miR-28-5p	CLIP-seq
MIRT2461321	hsa-miR-3139	CLIP-seq
MIRT2461322	hsa-miR-4311	CLIP-seq
MIRT2461323	hsa-miR-708	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IEA
GO:0000776	Component	Kinetochore	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	20176808, 32296183, 32707033, 37100772
GO:0005524	Function	ATP binding	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IBA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	ISS
GO:0007140	Process	Male meiotic nuclear division	IBA
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IBA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IEA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	ISS
GO:0019901	Function	Protein kinase binding	IPI	22405274
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IEA
GO:0030496	Component	Midbody	ISS
GO:0032466	Process	Negative regulation of cytokinesis	IEA
GO:0043063	Process	Intercellular bridge organization	IBA
GO:0043063	Process	Intercellular bridge organization	IEA
GO:0043063	Process	Intercellular bridge organization	ISS
GO:0045171	Component	Intercellular bridge	IBA
GO:0045171	Component	Intercellular bridge	IEA
GO:0045171	Component	Intercellular bridge	ISS
GO:0051301	Process	Cell division	IEA
GO:0051306	Process	Mitotic sister chromatid separation	IBA
GO:0051306	Process	Mitotic sister chromatid separation	IEA
GO:0051306	Process	Mitotic sister chromatid separation	ISS
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
605792	11737	ENSG00000121101

Q8IWB6

Protein name

Inactive serine/threonine-protein kinase TEX14 (Protein kinase-like protein SgK307) (Sugen kinase 307) (Testis-expressed sequence 14) (Testis-expressed sequence 14 protein)

Protein 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 requ

PDB

3WUT , 3WUU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	27 → 119	Ankyrin repeats (3 copies)	Repeat
PF07714	PK_Tyr_Ser-Thr	263 → 509	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression restricted to testis. {ECO:0000269|PubMed:11279525, ECO:0000269|PubMed:28206990}.

Sequence

MSRAVRLPVPCPVQLGTLRNDSLEAQLHEYVKQGNYVKVKKILKKGIYVDAVNSLGQTAL
FVAALLGLRKFVDVLVDYGSDPNHRCFDGSTPVHAAAFSGNQWILSKLLDAGGDLRLHDE
RGQNPKTWALTAGKERSTQIVEFMQRCASHMQAIIQGFSYDLLKKIDSPQRLVYSPSWCG
GLVQGNPNGSPNRLLKAGVISAQNIYSFGFGKAMPWFQFYLTGATQMAYLGSLPVIGEKE
VIQADDEPTFSFFSGPYMVMTNLVWNGSRVTVKELNLPTHPHCSRLRLADLLIAEQEHSS
KLRHPYLLQLMAVCLSQDLEKTRLVYERITIGTLFSVLHERRSQFPVLHMEVIVHLLLQI
SDALRYLHFQGFIHRSLSSYAVHIISPGEARLTNLEYMLESEDRGVQRDLTRVPLPTQLY
NWAAPEVILQKAATVKSDIYSFSMIMQEILTDDIPWKGLDGSVVKKAVVSGNYLEADVRL
PKPYYDIVKSGIHVKQKDRTMNLQDIRYILKNDLKDFTGAQRTQPTESPRVQRYGLHPDV
NVYLGLTSEHPRETPDMEIIELKEMGSQPHSPRVHSLFTEGTLDPQAPDPCLMARETQNQ
DAPCPAPFMAEEASSPSTGQPSLCSFEINEIYSGCLILEDDIEEPPGAASSLEADGPNQV
DELKSMEEELDKMEREACCFGSEDESSSKAETEYSFDDWDWQNGSLSSLSLPESTREAKS
NLNNMSTTEEYLISKCVLDLKIMQTIMHENDDRLRNIEQILDEVEMKQKEQEERMSLWAT
SREFTNAYKLPLAVGPPSLNYIPPVLQLSGGQKPDTSGNYPTLPRFPRMLPTLCDPGKQN
TDEQFQCTQGAKDSLETSRIQNTSSQGRPRESTAQAKATQFNSALFTLSSHRQGPSASPS
CHWDSTRMSVEPVSSEIYNAESRNKDDGKVHLKWKMEVKEMAKKAATGQLTVPPWHPQSS
LTLESEAENEPDALLQPPIRSPENTDWQRVIEYHRENDEPRGNGKFDKTGNNDCDSDQHG
RQPRLGSFTSIRHPSPRQKEQPEHSEAFQASSDTLVAVEKSYSHQSMQSTCSPESSEDIT
DEFLTPDGEYFYSSTAQENLALETSSPIEEDFEGIQGAFAQPQVSGEEKFQMRKILGKNA
EILPRSQFQPVRSTEDEQEETSKESPKELKEKDISLTDIQDLSSISYEPDSSFKEASCKT
PKINHAPTSVSTPLSPGSVSSAASQYKDCLESITFQVKTEFASCWNSQEFIQTLSDDFIS
VRERAKKLDSLLTSSETPPSRLTGLKRLSSFIGAGSPSLVKACDSSPPHATQRRSLPKVE
AFSQHHIDELPPPSQELLDDIELLKQQQGSSTVLHENTASDGGGTANDQRHLEEQETDSK
KEDSSMLLSKETEDLGEDTERAHSTLDEDLERWLQPPEESVELQDLPKGSERETNIKDQK
VGEEKRKREDSITPERRKSEGVLGTSEEDELKSCFWKRLGWSESSRIIVLDQSDLSD

Sequence length

1497

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Non-obstructive azoospermia	Pathogenic; Likely pathogenic	rs553754986, rs139416487, rs56315337, rs2144412389, rs2144363211, rs2144367372	RCV001648502 RCV001648503 RCV001648504 RCV001648505 RCV001648507 RCV001648510
Spermatogenic failure 23	Likely pathogenic; Pathogenic	rs1355507329, rs1555568575, rs761592042	RCV003148057 RCV000508998 RCV000786778

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs79813370	RCV005935241
Clear cell carcinoma of kidney	Benign	rs79813370	RCV005935242
Colorectal cancer	Conflicting classifications of pathogenicity	rs141801212	RCV005907282
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	rs55768547, rs141801212	RCV005936733 RCV005907281
Gastric cancer	Likely benign	rs55768547	RCV005936735
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	rs141801212	RCV003991582
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	rs55768547, rs79813370	RCV005936734 RCV005935244
Prostate cancer	Uncertain significance	rs193920796	RCV000149388
TEX14-related disorder	Likely benign; Benign; Uncertain significance	rs192369207, rs8077548, rs9903050, rs7225128, rs389389, rs6503870, rs34818467, rs374105757, rs1260482588, rs2045007318, rs137946944, rs150454554, rs370136626, rs79033527, rs79813370, rs148685536, rs34960869 View all (2 more)	RCV004758272 RCV003974512 RCV003974665 RCV003984757 RCV003984781 RCV003982514 RCV003979481 RCV003959763 RCV003941423 RCV003961370 RCV003959104 RCV003907375 RCV003934246 RCV003976564 RCV003976722 RCV004758079 RCV003910849
Thymoma	Benign	rs79813370	RCV005935245
Uveal melanoma	Benign	rs79813370	RCV005935243

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Azoospermia	Associate	28206990, 33728612
Azoospermia Nonobstructive	Associate	29790874, 36017582
Breast Neoplasms	Associate	19454617
Infertility	Associate	39331878
Infertility Male	Associate	39331878
Leukemia Myeloid Acute	Associate	30289875
Multiple Myeloma	Associate	19542363
Sertoli Cell Only Syndrome	Associate	37296437
Testicular Diseases	Associate	33728612
Testicular Neoplasms	Associate	19542363

TEX14 (testis expressed 14, intercellular bridge forming factor)