TEX14 (testis expressed 14, intercellular bridge forming factor)

Gene

• Entrez ID: 56155
• Gene name: Testis expressed 14, intercellular bridge forming factor
• Gene symbol: TEX14
• Synonyms (NCBI Gene): CT113, SPGF23, SgK307
• 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]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 605792
• HGNC: 11737
• e!Ensembl: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Non-obstructive azoospermia	Pathogenic; Likely pathogenic	rs553754986, rs139416487, rs56315337, rs2144412389, rs2144363211, rs2144367372	RCV001648502 RCV001648503 RCV001648504 RCV001648505 RCV001648507 RCV001648510	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 23	Likely pathogenic; Pathogenic	rs1355507329, rs1555568575, rs761592042	RCV003148057 RCV000508998 RCV000786778	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TEX14-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	28206990, 33728612	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	29790874, 36017582	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19454617		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19454617	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	39331878	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	39331878	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30289875	Associate	★☆☆☆☆ Found in Text Mining only
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant neoplasm of breast	Breast Cancer	BEFREE	19454617		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19542363	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19542363		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 23	Spermatogenic Failure	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Testicular Diseases	Testicular disease	Pubtator	33728612	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	23666239		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASDB_DG	23666239		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	19542363	Associate	★☆☆☆☆ Found in Text Mining only