KEGG T01001: 7052

Homo sapiens (human): 7052

Entry

7052 CDS T01001

Gene name

TGM2, G-ALPHA-h, GNAH, TG2, TGC

Definition

transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (EC:2.3.2.13)

Orthology

K05625

transglutaminase 2 [EC:2.3.2.13]

Organism

hsa Homo sapiens (human)

Pathway

hsa05016

Huntington's disease

Class

Human Diseases; Neurodegenerative diseases; Huntington's disease [PATH:hsa05016]

SSDB

Motif

Pfam:

Transglut_C Transglut_N Transglut_core

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2Q3Z 3S3J 3S3S 3S3P 1KV3 3LY6

Position

20q12

AA seq 687 aa
MAEELVLERCDLELETNGRDHHTADLCREKLVVRRGQPFWLTLHFEGRNYEASVDSLTFS
VVTGPAPSQEAGTKARFPLRDAVEEGDWTATVVDQQDCTLSLQLTTPANAPIGLYRLSLE
ASTGYQGSSFVLGHFILLFNAWCPADAVYLDSEEERQEYVLTQQGFIYQGSAKFIKNIPW
NFGQFEDGILDICLILLDVNPKFLKNAGRDCSRRSSPVYVGRVVSGMVNCNDDQGVLLGR
WDNNYGDGVSPMSWIGSVDILRRWKNHGCQRVKYGQCWVFAAVACTVLRCLGIPTRVVTN
YNSAHDQNSNLLIEYFRNEFGEIQGDKSEMIWNFHCWVESWMTRPDLQPGYEGWQALDPT
PQEKSEGTYCCGPVPVRAIKEGDLSTKYDAPFVFAEVNADVVDWIQQDDGSVHKSINRSL
IVGLKISTKSVGRDEREDITHTYKYPEGSSEEREAFTRANHLNKLAEKEETGMAMRIRVG
QSMNMGSDFDVFAHITNNTAEEYVCRLLLCARTVSYNGILGPECGTKYLLNLNLEPFSEK
SVPLCILYEKYRDCLTESNLIKVRALLVEPVINSYLLAERDLYLENPEIKIRILGEPKQK
RKLVAEVSLQNPLPVALEGCTFTVEGAGLTEEQKTVEIPDPVEAGEEVKVRMDLLPLHMG
LHKLVVNFESDKLKAVKGFRNVIIGPA

NT seq 2064 nt +upstreamnt +downstreamnt
atggccgaggagctggtcttagagaggtgtgatctggagctggagaccaatggccgagac
caccacacggccgacctgtgccgggagaagctggtggtgcgacggggccagcccttctgg
ctgaccctgcactttgagggccgcaactacgaggccagtgtagacagtctcaccttcagt
gtcgtgaccggcccagcccctagccaggaggccgggaccaaggcccgttttccactaaga
gatgctgtggaggagggtgactggacagccaccgtggtggaccagcaagactgcaccctc
tcgctgcagctcaccaccccggccaacgcccccatcggcctgtatcgcctcagcctggag
gcctccactggctaccagggatccagctttgtgctgggccacttcattttgctcttcaac
gcctggtgcccagcggatgctgtgtacctggactcggaagaggagcggcaggagtatgtc
ctcacccagcagggctttatctaccagggctcggccaagttcatcaagaacataccttgg
aattttgggcagtttgaagatgggatcctagacatctgcctgatccttctagatgtcaac
cccaagttcctgaagaacgccggccgtgactgctcccgccgcagcagccccgtctacgtg
ggccgggtggtgagtggcatggtcaactgcaacgatgaccagggtgtgctgctgggacgc
tgggacaacaactacggggacggcgtcagccccatgtcctggatcggcagcgtggacatc
ctgcggcgctggaagaaccacggctgccagcgcgtcaagtatggccagtgctgggtcttc
gccgccgtggcctgcacagtgctgaggtgcctgggcatccctacccgcgtcgtgaccaac
tacaactcggcccatgaccagaacagcaaccttctcatcgagtacttccgcaatgagttt
ggggagatccagggtgacaagagcgagatgatctggaacttccactgctgggtggagtcg
tggatgaccaggccggacctgcagccggggtacgagggctggcaggccctggacccaacg
ccccaggagaagagcgaagggacgtactgctgtggcccagttccagttcgtgccatcaag
gagggcgacctgagcaccaagtacgatgcgccctttgtctttgcggaggtcaatgccgac
gtggtagactggatccagcaggacgatgggtctgtgcacaaatccatcaaccgttccctg
atcgttgggctgaagatcagcactaagagcgtgggccgagacgagcgggaggatatcacc
cacacctacaaatacccagaggggtcctcagaggagagggaggccttcacaagggcgaac
cacctgaacaaactggccgagaaggaggagacagggatggccatgcggatccgtgtgggc
cagagcatgaacatgggcagtgactttgacgtctttgcccacatcaccaacaacaccgct
gaggagtacgtctgccgcctcctgctctgtgcccgcaccgtcagctacaatgggatcttg
gggcccgagtgtggcaccaagtacctgctcaacctcaacctggagcctttctctgagaag
agcgttcctctttgcatcctctatgagaaataccgtgactgccttacggagtccaacctc
atcaaggtgcgggccctcctcgtggagccagttatcaacagctacctgctggctgagagg
gacctctacctggagaatccagaaatcaagatccggatccttggggagcccaagcagaaa
cgcaagctggtggctgaggtgtccctgcagaacccgctccctgtggccctggaaggctgc
accttcactgtggagggggccggcctgactgaggagcagaagacggtggagatcccagac
cccgtggaggcaggggaggaagttaaggtgagaatggacctgctgccgctccacatgggc
ctccacaagctggtggtgaacttcgagagcgacaagctgaaggctgtgaagggcttccgg
aatgtcatcattggccccgcctaa

All links

Pathway (1)   
   KEGG PATHWAY (1)   
Disease (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (14)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (44)   
   RefSeq(nuc) (2)   
   GenBank (21)   
   EMBL (21)   
3D Structure (6)   
   PDB (6)   
Protein domain (3)   
   Pfam (3)   
All databases (82)   

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