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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56155
Gene name Gene Name - the full gene name approved by the HGNC.	Testis expressed 14, intercellular bridge forming factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TEX14
Synonyms (NCBI Gene) Gene synonyms aliases	CT113, SPGF23, SgK307
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q22
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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 (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Spermatogenic Failure	spermatogenic failure 23	rs1555568575, rs761592042	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Hypertension	Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Male infertility	male infertility with azoospermia or oligozoospermia due to single gene mutation	N/A	N/A	ClinVar, GenCC
Non-obstructive azoospermia	non-obstructive azoospermia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)