KEGG   Homo sapiens (human): 3508Help
Entry
3508              CDS       T01001                                 

Gene name
IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7
Definition
immunoglobulin mu binding protein 2 (EC:3.6.4.13 3.6.4.12)
Organism
hsa  Homo sapiens (human)
Disease
H00856  
Distal hereditary motor neuropathies (dHMN)
Class
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
11q13.3
AA seq 993 aa AA seqDB search
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLY
GRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDE
SHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPAS
EIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC
CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI
DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGP
LKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL
SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA
TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSP
YNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA
VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSS
HAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV
ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFI
TVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR
VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA
KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGS
LDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT
NT seq 2982 nt NT seq  +upstreamnt  +downstreamnt
atggcctcggcagctgtggagagcttcgtgaccaagcaactggacctgctggagcttgag
agagacgcggaggtggaggagcgcaggtcctggcaggagaacatctctctgaaagagctc
cagagccgaggcgtgtgtttgctgaagctgcaggtatccagccagcgcactgggctgtac
ggacggctgctggtcacctttgagcccaggcgatacgggtccgcggcagctcttcccagt
aacagctttacttctggtgatatcgtgggcctgtacgatgctgctaatgagggcagtcag
ctggccactgggatcttgacccgggtcacccagaagtcggtcacggtggcctttgatgag
tcccacgatttccagttgagcttggaccgagagaattcctacagactgttaaaacttgcc
aatgatgtcacttacaggcgactgaaaaaagccctgattgctctaaagaagtatcattct
ggcccagcctcctcactcatagaagtgctctttggcagatctgctcccagtcctgccagt
gaaatacacccgctgacattcttcaacacctgcctggacacctcccagaaagaagcggtt
ttatttgcgctgtctcagaaagaacttgccatcatccatggacctcctggcactgggaaa
accacgactgtggttgagatcattcttcaagctgtgaaacaaggcttaaaggttctgtgc
tgcgccccctccaacatcgccgtggacaatctggtggagcgcctggctctgtgtaagcag
cggattctgcgcctgggacaccctgcccgcctcctggagtccattcagcagcactccctg
gatgcggttttagcgcggagcgacagtgcccagattgttgcagatatcaggaaggacatc
gaccaggtctttgtgaaaaacaaaaagacccaggataagagagagaaaagtaattttcga
aatgaaattaagctgttaagaaaagaactgaaggagagggaagaagcagctatgctcgag
agcctcacttcggcaaacgtggtccttgcaacaaacacaggtgcgtctgccgatggcccc
ctgaagttgctgcccgagagctacttcgacgtggtggtcattgacgagtgtgcccaggcc
ctcgaggcgagctgctggatccccctgctgaaggccagaaagtgcatcctggcgggcgat
cacaagcagctgccccccaccacagtctctcacaaggctgcgctggcaggactgtcactc
agcctgatggaacgcctggctgaggagtacggcgcgagggtggtgcggacactgacggtg
cagtaccgcatgcaccaggctatcatgcgctgggcctcagacaccatgtaccttgggcag
ctcacagcccactcttccgtggcaaggcacctcctgagggacctcccaggtgtggctgcc
acagaagagacgggtgtgcccctgctcttggtggacaccgccggctgcgggctgtttgag
ctggaggaggaggacgaacagtcgaaagggaaccctggcgaagtccgcctcgtcagtttg
cacatccaggctctggtggacgctggtgttccagcccgtgacattgctgtggtctcgcca
tacaacctccaggtggacctgctcagacagagccttgtgcacaggcaccctgagcttgaa
atcaagtctgtcgatggcttccaaggccgagagaaggaggccgtgatactgtccttcgtc
agatccaacaggaaaggtgaagttggttttcttgctgaggaccggaggatcaacgtggct
gtcacccgtgcccgacgccacgtggcggtcatctgtgactcccgtactgtcaacaaccat
gcatttttgaagaccctggtggagtatttcacacagcatggggaagtacgcacggccttt
gagtatcttgacgatattgtcccagaaaactattcccatgagaactcccagggttccagc
cacgctgccaccaagccccagggacctgctacgtccaccaggaccggaagccagcggcag
gagggaggccaggaggctgcagcacctgccagacagggccggaagaagccggctgggaag
tctctggcctctgaagctccatctcagcccagcctcaacggaggcagcccagagggagtg
gagagccaagatggcgtggaccacttccgggccatgatagtggagttcatggccagcaag
aagatgcagttggagtttcctccttccctcaattcccacgacaggctgcgggtccaccaa
atagccgaggagcacgggctgaggcacgacagttccggggaagggaagaggaggttcatc
actgtgagcaagagggccccgcgaccccgagcagccctgggacccccagcagggaccggt
ggcccagcccctctccagccagtgccccctacccctgcgcagacagagcagcctcccagg
gagcagcgtggcccagaccagcctgatctgaggacgctgcacctggagagactgcagagg
gtcaggagcgcgcaggggcagcccgccagcaaggagcagcaggcctcagggcagcagaaa
cttccagaaaagaaaaagaaaaaagccaaaggacatccggccacagatctgcccacggag
gaggactttgaggccctggtttctgccgccgttaaggctgataacacctgcggctttgcc
aagtgcacagccggcgtcacaaccctgggccagttctgccagctctgcagccgccgctac
tgcctcagccaccacctgcccgagatccatggctgcggtgagagggctcgcgcccatgcc
cggcagagaatcagccgggaaggggtcctctatgccggcagcgggaccaagaacggatcc
ctggacccagccaagagggcccagctgcagaggaggctggataagaagctgagtgagctc
agcaaccagaggaccagccggaggaaggagagggggacgtga

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