TGM5 (transglutaminase 5)

Gene

• Entrez ID: 9333
• Gene name: Transglutaminase 5
• Gene symbol: TGM5
• Synonyms (NCBI Gene): PSS2, TG(X), TGASE5, TGASEX, TGM6, TGMX, TGX
• Chromosome: 15
• Chromosome location: 15q15.2
• Summary: This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112292549	C>A	Pathogenic	Missense variant, genic upstream transcript variant, intron variant, coding sequence variant
rs115677373	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs143601447	A>G	Likely-pathogenic, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs606231276	C>G	Pathogenic	Coding sequence variant, missense variant
rs606231277	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs606231278	ACTGC>TGAAGGA	Pathogenic	Frameshift variant, coding sequence variant
rs748610718	AC>-	Pathogenic	Splice donor variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs749224503	C>G,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs755087362	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs758505358	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs777586604	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs778322388	G>-	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1421896	hsa-miR-1264	CLIP-seq
MIRT1421897	hsa-miR-3157-3p	CLIP-seq
MIRT1421898	hsa-miR-4290	CLIP-seq
MIRT1421899	hsa-miR-4633-3p	CLIP-seq
MIRT1421900	hsa-miR-490-5p	CLIP-seq
MIRT1421901	hsa-miR-874	CLIP-seq

Gene ontology (GO)

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	TAS	9452468
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0008544	Process	Epidermis development	TAS	9452468
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0036211	Process	Protein modification process	TAS	9452468
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 603805
• HGNC: 11781
• e!Ensembl: ENSG00000104055

Protein

• UniProt ID: O43548
• Protein name: Protein-glutamine gamma-glutamyltransferase 5 (EC 2.3.2.13) (Transglutaminase X) (TG(X)) (TGX) (TGase X) (Transglutaminase-5) (TGase-5)
• Protein function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00868	Transglut_N	4 → 122	Transglutaminase family	Domain
  PF01841	Transglut_core	245 → 361	Transglutaminase-like superfamily	Family
  PF00927	Transglut_C	507 → 606	Transglutaminase family, C-terminal ig like domain	Domain
  PF00927	Transglut_C	620 → 718	Transglutaminase family, C-terminal ig like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in foreskin keratinocytes.
• Sequence:

  MAQGLEVALTDLQSSRNNVRHHTEEITVDHLLVRRGQAFNLTLYFRNRSFQPGLDNIIFV
  VETGPLPDLALGTRAVFSLARHHSPSPWIAWLETNGATSTEVSLCAPPTAAVGRYLLKIH
  IDSFQGSVTAYQLGEFILLFNPWCPEDAVYLDSEPQRQEYVMNDYGFIYQGSKNWIRPCP
  WNYGQFEDKIIDICLKLLDKSLHFQTDPATDCALRGSPVYVSRVVCAMINSNDDNGVLNG
  NWSENYTDGANPAEWTGSVAILKQWNATGCQPVRYGQCWVFAAVMCTVMRCLGIPTRVIT
  NFDSGHDTDGNLIIDEYYDNTGRILGNKKKDTIWNFHVWNECWMARKDLPPAYGGWQVLD
  ATPQEMSNGVYCCGPASVRAIKEGEVDLNYDTPFVFSMVNADCMSWLVQGGKEQKLHQDT
  SSVGNFISTKSIQSDERDDITENYKYEEGSLQERQVFLKALQKLKARSFHGSQRGAELQP
  SRPTSLSQDSPRSLHTPSLRPSDVVQVSLKFKLLDPPNMGQDICFVLLALNMSSQFKDLK
  VNLSAQSLLHDGSPLSPFWQDTAFITLSPKEAKTYPCKISYSQYSQYLSTDKLIRISALG
  EEKSSPEKILVNKIITLSYPSITINVLGAAVVNQPLSIQVIFSNPLSEQVEDCVLTVEGS
  GLFKKQQKVFLGVLKPQHQASIILETVPFKSGQRQIQANMRSNKFKDIKGYRNVYVDFAL
  

• Sequence length: 720

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acral peeling skin syndrome	Likely pathogenic; Pathogenic	rs755448082, rs1045182796, rs115677373, rs606231277, rs606231278, rs2142390360, rs112292549, rs2542636329, rs1451315165, rs748610718, rs778322388	RCV001783866 RCV001783867 RCV000144912 RCV000144914 RCV000144915 RCV002249190 RCV000006411 RCV003445428 RCV003989429 RCV005632417 RCV000778431
Peeling skin syndrome 1	Pathogenic; Likely pathogenic	rs606231277, rs755087362	RCV000989297 RCV000989296
TGM5-related disorder	Pathogenic	rs112292549	RCV003398452

Associations from Text Mining
Disease Name	Relationship Type	References
Attention Deficit Disorder with Hyperactivity	Associate	27211562
Darier Disease	Associate	12230511
Ichthyosis	Associate	12230511
Ichthyosis Vulgaris	Associate	12230511
Keratoconus	Associate	36240204
Lung Neoplasms	Associate	21303977, 24518713, 37058478
Nasal Polyps	Associate	36361742
Peeling Skin Syndrome	Associate	16380904, 21307953, 22429841
Peeling skin syndrome acral type	Associate	16380904, 21307953, 22429841, 22622422
Psoriasis	Associate	12230511, 19554025
Psychotic Disorders	Associate	27211562
Schizophrenia	Associate	27211562
Skin Diseases	Associate	16380904