TCP11X2

Summary

TCP11X2 (t-complex 11 family, X-linked 2, HGNC:48335) is a protein-coding gene on chromosome Xq22.1, encoding T-complex protein 11-like X-linked protein 2 (Q5H9J9).

Predicted to be involved in protein kinase A signaling and regulation of sperm capacitation. Predicted to be active in acrosomal vesicle and sperm flagellum.

Source: NCBI Gene 100996648 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic
• MANE Select transcript: NM_001405027

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:48335
Approved symbol	TCP11X2
Name	t-complex 11 family, X-linked 2
Location	Xq22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215029
Ensembl biotype	protein_coding
Entrez	100996648

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding

ENST00000462555, ENST00000642911, ENST00000643059, ENST00000645197, ENST00000672117, ENST00000696789

RefSeq mRNA: 2 — MANE Select: NM_001405027 NM_001277423, NM_001405027

Canonical transcript exons

ENST00000642911 — 10 exons

Exon	Start	End
ENSE00003509172	102461920	102462083
ENSE00003519662	102463592	102463728
ENSE00003582929	102462845	102463026
ENSE00003685129	102463125	102463345
ENSE00003821261	102469033	102469135
ENSE00003827847	102471773	102471812
ENSE00003830413	102471148	102471285
ENSE00003968359	102464495	102464715
ENSE00003968360	102465449	102465569
ENSE00003968361	102460315	102460745

Expression profiles

Bgee: expression breadth broad, 61 present calls, max score 83.64.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.64	gold quality
right uterine tube	UBERON:0001302	72.31	gold quality
pituitary gland	UBERON:0000007	65.37	gold quality
adenohypophysis	UBERON:0002196	61.91	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	61.66	gold quality
ganglionic eminence	UBERON:0004023	58.60	gold quality
fallopian tube	UBERON:0003889	53.97	gold quality
islet of Langerhans	UBERON:0000006	53.13	gold quality
testis	UBERON:0000473	52.85	gold quality
right testis	UBERON:0004534	52.29	gold quality
left testis	UBERON:0004533	52.03	gold quality
ventricular zone	UBERON:0003053	47.70	silver quality
right lung	UBERON:0002167	46.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	44.00	silver quality
hypothalamus	UBERON:0001898	42.48	gold quality
cerebellum	UBERON:0002037	42.16	gold quality
cerebellar cortex	UBERON:0002129	42.11	gold quality
right hemisphere of cerebellum	UBERON:0014890	42.03	silver quality
cerebellar hemisphere	UBERON:0002245	41.95	gold quality
left uterine tube	UBERON:0001303	41.91	gold quality
pancreas	UBERON:0001264	39.44	gold quality
superior frontal gyrus	UBERON:0002661	39.37	silver quality
metanephros cortex	UBERON:0010533	37.43	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
primary visual cortex	UBERON:0002436	36.80	silver quality
bone marrow cell	CL:0002092	36.16	gold quality
kidney	UBERON:0002113	35.36	silver quality
skeletal muscle tissue	UBERON:0001134	35.16	gold quality
brain	UBERON:0000955	35.07	gold quality
cortex of kidney	UBERON:0001225	34.83	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting TCP11X2, 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-7110-3P	100.00	73.18	2486
HSA-MIR-3606-5P	99.31	69.67	1168
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tcp11x2	ENSMUSG00000058252
rattus_norvegicus	Tcp11x2	ENSRNOG00000011034
drosophila_melanogaster	CG16721	FBGN0029820
caenorhabditis_elegans		WBGENE00010875

Paralogs (4): TCP11 (ENSG00000124678), TCP11L2 (ENSG00000166046), TCP11L1 (ENSG00000176148), TCP11X1 (ENSG00000268235)

Protein

Protein identifiers

T-complex protein 11-like X-linked protein 2 — Q5H9J9 (reviewed: Q5H9J9)

All UniProt accessions (3): A0A2R8Y3D8, A0AA75M596, Q5H9J9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the TCP11 family.

RefSeq proteins (2): NP_001264352, NP_001391956* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008862	Tcp11	Family

Pfam: PF05794

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5H9J9-F1	81.98	0.57

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): GOBP_REGULATION_OF_CELL_MATURATION, GOCC_SECRETORY_GRANULE, GOBP_MALE_GAMETE_GENERATION, GOBP_SPERM_CAPACITATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_REGULATION_OF_CELL_DEVELOPMENT, GOCC_SECRETORY_VESICLE, GOCC_MOTILE_CILIUM, GOCC_ACROSOMAL_VESICLE, GOCC_CILIUM, chrXq22

GO Biological Process (2): obsolete protein kinase A signaling (GO:0010737), regulation of sperm capacitation (GO:1902490)

GO Molecular Function (0):

GO Cellular Component (2): acrosomal vesicle (GO:0001669), sperm flagellum (GO:0036126)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sperm capacitation	1
regulation of multicellular organismal process	1
regulation of cell maturation	1
regulation of reproductive process	1
secretory granule	1
9+2 motile cilium	1

Protein interactions and networks

STRING

192 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TCP11X2	PWWP4	A0A494C071	772
TCP11X2	ACTRT1	Q8TDG2	620
TCP11X2	CXorf49	A8MYA2	598
TCP11X2	CXorf51A	A0A1B0GTR3	571
TCP11X2	TNP1	P09430	444
TCP11X2	PNMA6A	P0CW24	399
TCP11X2	UBB	P02248	370
TCP11X2	KLHDC3	Q9BQ90	299
TCP11X2	PLAAT5	Q96KN8	297
TCP11X2	DYNLT2	Q8IZS6	297
TCP11X2	TMSB15A	P0CG34	289
TCP11X2	SPATA4	Q8NEY3	288
TCP11X2	MEA1	Q16626	287
TCP11X2	LDOC1	O95751	284
TCP11X2	TEX264	Q9Y6I9	275

IntAct

0 interactions, top by confidence:

BioGRID (5): TCP11X2 (Two-hybrid), TCP11X2 (Two-hybrid), TCP11X2 (Two-hybrid), TCP11X2 (Affinity Capture-MS), TCP11X2 (Affinity Capture-MS)

ESM2 similar proteins: A2AV37, A2BID5, A2VDR8, A7E2Y6, A7Z033, B4DZS4, O15068, O35821, O60645, O70576, O94812, P52630, P83436, Q01755, Q03169, Q08CY4, Q0P4Q0, Q0V8C2, Q14746, Q15021, Q17RC7, Q19262, Q1LXZ7, Q2TBH9, Q3T1G7, Q3TBD2, Q3UM29, Q5H9J9, Q5XI00, Q61333, Q62825, Q63406, Q64096, Q6DIA2, Q6GPP1, Q6KAR6, Q7T006, Q80TT2, Q80VA5, Q8K1H7

Diamond homologs: A7Z033, B4DZS4, Q01755, Q568Z0, Q5H9J9, Q5XI00, Q8BTG3, Q8K1H7, Q8N4U5, Q8WWU5, Q9NUJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	Pathogenic

SpliceAI

1860 predictions. Top by Δscore:

Variant	Effect	Δscore
X:102462083:CCTA:C	acceptor_loss	1.0000
X:102462084:C:CC	acceptor_gain	1.0000
X:102462084:C:CG	acceptor_loss	1.0000
X:102462085:T:C	acceptor_loss	1.0000
X:102462840:CTTA:C	donor_loss	1.0000
X:102462841:TTA:T	donor_loss	1.0000
X:102462842:TACCT:T	donor_loss	1.0000
X:102462843:A:AC	donor_gain	1.0000
X:102462843:ACC:A	donor_loss	1.0000
X:102462844:C:CC	donor_gain	1.0000
X:102463022:AGAGT:A	acceptor_gain	1.0000
X:102463023:GAGT:G	acceptor_gain	1.0000
X:102463024:AGT:A	acceptor_gain	1.0000
X:102463025:GT:G	acceptor_gain	1.0000
X:102463026:TC:T	acceptor_loss	1.0000
X:102463027:C:CC	acceptor_gain	1.0000
X:102463027:CTG:C	acceptor_loss	1.0000
X:102463028:T:A	acceptor_loss	1.0000
X:102463030:G:GC	acceptor_gain	1.0000
X:102463590:A:AC	donor_gain	1.0000
X:102463591:C:CT	donor_gain	1.0000
X:102463591:CTGGG:C	donor_gain	1.0000
X:102463612:T:TA	donor_gain	1.0000
X:102463624:G:C	donor_gain	1.0000
X:102463634:A:AC	donor_gain	1.0000
X:102463635:C:CC	donor_gain	1.0000
X:102463648:T:TA	donor_gain	1.0000
X:102463724:TGCCC:T	acceptor_gain	1.0000
X:102463726:CCC:C	acceptor_gain	1.0000
X:102463727:CC:C	acceptor_gain	1.0000

AlphaMissense

3315 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:102463617:G:C	F228L	0.976
X:102463617:G:T	F228L	0.976
X:102463619:A:G	F228L	0.976
X:102463318:A:G	L246P	0.965
X:102463701:C:A	M200I	0.959
X:102463701:C:G	M200I	0.959
X:102463701:C:T	M200I	0.959
X:102463618:A:G	F228S	0.954
X:102463322:A:G	W245R	0.948
X:102463322:A:T	W245R	0.948
X:102465452:C:A	K116N	0.948
X:102465452:C:G	K116N	0.948
X:102465530:A:C	F90L	0.947
X:102465530:A:T	F90L	0.947
X:102465532:A:G	F90L	0.947
X:102460591:A:C	F382L	0.945
X:102460591:A:T	F382L	0.945
X:102460593:A:G	F382L	0.945
X:102463692:G:C	D203E	0.940
X:102463692:G:T	D203E	0.940
X:102463694:C:G	D203H	0.936
X:102464549:C:G	R173P	0.930
X:102465485:G:C	F105L	0.928
X:102465485:G:T	F105L	0.928
X:102465487:A:G	F105L	0.928
X:102464560:A:C	C169W	0.924
X:102463693:T:A	D203V	0.919
X:102463693:T:G	D203A	0.919
X:102464628:C:G	A147P	0.915
X:102463629:T:A	E224D	0.913

dbSNP variants (sampled 300 via entrez): RS1156312715 (X:102460830 A>C), RS1156688561 (X:102463324 T>G), RS1156887840 (X:102472022 T>C), RS1158065599 (X:102462778 G>GTAT), RS1158082257 (X:102466422 A>AAAAAAAAAAAT,AAAAAAAAAAT,AAAAAAAAAATAT,AAAAAAAAAC,AAAAAAAAAT,AAAAAAAAATAT,AAAAAAAAATATAT,AAAAAAAAT,AAAAAAAATAT,AAAAAAAATATAT,AAAAAAAATCT,AAAAAAAT,AAAAAAATACAT,AAAAAAATAT,AAAAAAATATAT,AAAAAAATATATAT,AAAAAAT,AAAAAATAT,AAAAAATATAT,AAAAAATATATAT,AAAAAT,AAAAATAT,AAAAATATAT,AAAAATATATAT,AAAAATATATATAT,AAAAT,AAAATAT,AAAATATAT,AAAATATATAT,AAAATATATATAT,AAAT,AAATATATATAT), RS1158818580 (X:102467346 T>C), RS1158938078 (X:102463744 A>G), RS1159942452 (X:102460712 A>G), RS1160115988 (X:102466394 CAAAAAAAAAA>C,CAA,CAAA,CAAAA,CAAAAA,CAAAAAA,CAAAAAAA,CAAAAAAAA,CAAAAAAAAA,CAAAAAAAAAAA,CAAAAAAAAAAAA,CAAAAAAAAAAAAA,CAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAAA), RS1161038636 (X:102471890 GGAGGAGTA>G), RS1161523675 (X:102463733 C>T), RS1161757758 (X:102461233 G>A), RS1163155168 (X:102472427 A>G), RS1163157230 (X:102467166 T>A), RS1163453070 (X:102460522 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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