Gene Gene information from NCBI Gene database.
Entrez ID 7047
Gene name Transglutaminase 4
Gene symbol TGM4
Synonyms (NCBI Gene)
TGPhTGP
Chromosome 3
Chromosome location 3p21.31
miRNA miRNA information provided by mirtarbase database.
21
miRTarBase ID miRNA Experiments Reference
MIRT1421879 hsa-miR-21 CLIP-seq
MIRT1421880 hsa-miR-216b CLIP-seq
MIRT1421881 hsa-miR-224 CLIP-seq
MIRT1421882 hsa-miR-320a CLIP-seq
MIRT1421883 hsa-miR-320b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Unknown 10580145
SP3 Unknown 10580145
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IBA
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IEA
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity NAS 7916568
GO:0005737 Component Cytoplasm IDA 20596668
GO:0005794 Component Golgi apparatus IDA 20569004
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600585 11780 ENSG00000163810
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49221
Protein name Protein-glutamine gamma-glutamyltransferase 4 (EC 2.3.2.13) (Fibrinoligase) (Prostate transglutaminase) (Prostate-specific transglutaminase) (Transglutaminase P) (TG(P)) (TGP) (TGase P) (Transglutaminase-4) (TGase-4)
Protein function Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00868 Transglut_N 7 123 Transglutaminase family Domain
PF01841 Transglut_core 229 351 Transglutaminase-like superfamily Family
PF00927 Transglut_C 587 684 Transglutaminase family, C-terminal ig like domain Domain
Tissue specificity TISSUE SPECIFICITY: Prostate.
Sequence
MMDASKELQVLHIDFLNQDNAVSHHTWEFQTSSPVFRRGQVFHLRLVLNQPLQSYHQLKL
EFSTGPNPSIAKHTLVVLDPRTPSDHYNWQATLQNESGKEVTVAVTSSPNAILGKYQLNV
KTG
NHILKSEENILYLLFNPWCKEDMVFMPDEDERKEYILNDTGCHYVGAARSIKCKPWN
FGQFEKNVLDCCISLLTESSLKPTDRRDPVLVCRAMCAMMSFEKGQGVLIGNWTGDYEGG
TAPYKWTGSAPILQQYYNTKQAVCFGQCWVFAGILTTVLRALGIPARSVTGFDSAHDTER
NLTVDTYVNENGEKITSMTHDSVWNFHVWTDAWMKRPDLPKGYDGWQAVDA
TPQERSQGV
FCCGPSPLTAIRKGDIFIVYDTRFVFSEVNGDRLIWLVKMVNGQEELHVISMETTSIGKN
ISTKAVGQDRRRDITYEYKYPEGSSEERQVMDHAFLLLSSEREHRRPVKENFLHMSVQSD
DVLLGNSVNFTVILKRKTAALQNVNILGSFELQLYTGKKMAKLCDLNKTSQIQGQVSEVT
LTLDSKTYINSLAILDDEPVIRGFIIAEIVESKEIMASEVFTSFQYPEFSIELPNTGRIG
QLLVCNCIFKNTLAIPLTDVKFSLESLGISSLQTSDHGTVQPGETIQSQIKCTPIKTGPK
KFIVKLSSKQVKEINAQKIVLITK
Sequence length 684
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Essential tremor Likely pathogenic rs139860990 RCV001543420
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 20177144, 29285211
★☆☆☆☆
Found in Text Mining only
Familial lichen amyloidosis Lichen amyloidosis BEFREE 29288003
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 17244021, 18983858, 19055846, 20177144, 21657838, 28179293, 29285211, 29288003, 31249104
★☆☆☆☆
Found in Text Mining only
Metastatic Prostate Carcinoma Metastatic Prostate Carcinoma BEFREE 10604718
★☆☆☆☆
Found in Text Mining only
Non-obstructive azoospermia Non-obstructive azoospermia BEFREE 22286264
★☆☆☆☆
Found in Text Mining only
Obstructive azoospermia Obstructive azoospermia BEFREE 22286264
★☆☆☆☆
Found in Text Mining only
Periodontitis Periodontitis BEFREE 22092925
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 17244021, 18983858, 19055846, 20177144, 21657838, 28179293, 29285211, 29288003, 31249104
★☆☆☆☆
Found in Text Mining only
Prostatic Hyperplasia Prostatic hyperplasia Pubtator 20177144 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 20177144, 20596668, 21524313, 23974364, 27903962, 28179293, 36497036 Associate
★☆☆☆☆
Found in Text Mining only