Gene Report 3

Name: Jacob Diaz
Sequence: CCCCTGCTGGGAGTGGGGCTGAACACGACAATTC
Sequence ID/Fragment Code: 6649013
Answers:
1. Identify the gene from which the query sequence originates (Name of gene)
- Homo sapiens interleukin 2 receptor, gamma (severe combined immunodeficiency (IL2RG), mRNA
- See Appendix 1
2. Provide the full protein sequence encoded by the gene.
- >gi|4557882|ref|NP_000197.1| cytokine receptor common subunit gamma precursor [Homo sapiens]
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYM
NCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRR
QATQMLKLQNLVIPWAPENLTLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSL
PSVDGQKRYTFRVRSRFNPLCGSAQHWSEWSHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVY
FWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGGALGEGPGASP
CNQHSPYWAPPCYTLKPET

- See Appendix 2
3. Are different splice variants known for this gene?
- Yes there are different splice variants.
- See Appendix 3
4. What human disease has been connected to this gene?
- IL2RG can cause X-linked severe immunodeficiency (XSCID) as well as Xlinked combined immunodeficiency (XCID).
- See Appendix 4
5. Calculate molecular weight (kiloDalton kD) and calculated pI of the protein.
- The molecular weight is 42287.00kD and the calculated pI is 5.90.
- See Appendix 5

6. Provide the reference for a recent publication involving the identified gene.
- Davé, Akagi, Utpal P., Keiko. "Murine Leukemias with Retroviral Insertions at Lmo2 Are Predictive of the Leukemias Induced in SCID-X1 Patients Following Retroviral Gene Therapy."
PubMed Central . (2009): Print.

-See Appendix 6
7. Are there homologues for the identified gene in other systems? Identify one homologue in a invertebrate system (if there is none, provide a vertebrate homologue).
- Yes there are homolgues. The IL2RG gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.
- See appendix 7

8. What is the function (e.g. transcriptional regulation, transmembran signaling, kinase, protease etc. of the protein(s) encoded by the gene.
- The function of the protein encoded by the gene is that it is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7, and -21, and is referred to as the common gamma chain.
- See appendix 8
9. Generate a protein sequence alignment for one of the identified putative protein products with at least one similar invertebrate protein (if there is none, use a vertebrate homologue.)
- MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNED-----TTADFFLTTMPTDSLSVST 54
FFLTSTPAGTLDVST 60
****.**: ***************..:***.****

MLKPPLPLRSLLFLQLPLLGVGLNPKFLTPSGNEDIGGKPGTGGD
* .*****: *:.:*.***

- See Appendix 9
10. Generate a secondary structure prediction for one identified protein.

10

MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYM cccccccchhhhhhhhcccccccceeeeecccccccccheeeeccccccceecccccccheeeeeeeecc NCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRR cccccccccccccceeeeeeecccccccccccchheechccccchhhhhhheeeeeeeeeeecccccchh QATQMLKLQNLVIPWAPENLTLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSL hhhhhhhhhhhecccccccccccccchhhehhccchhhhhhhhhheeeeccccccccccccccccececc 2

PSVDGQKRYTFRVRSRFNPLCGSAQHWSEWSHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVY ccccccceeeeeeeecccccccccccccccccccccccccccccchhhhhhhhheehcchhhhhhhhhhh FWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGGALGEGPGASP hhhhhhccccccchchhhhhhhhccccccccchhhcchhcccccccceeeeeeccccccccccccccccc CNQHSPYWAPPCYTLKPET
Ccccccccccccccccccc

- See Appendix 10

Appendix Is Listed Below On Following Pages

Appendix 1
Website: http://blast.ncbi.nlm.nih.gov/Blast.cgi

Appendix 2
Website: http://www.ncbi.nlm.nih.gov/protein/4557882?report=fasta

Appendix 3
Website: : http://uswest.ensembl.org/Homo_sapiens/Gene/
Summary?g=ENSG00000147168;r=X:70327254-70331958

Appendix 4
Website: http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=retrieve&dopt=full_report& list_uids=3561 Appendix 5
Website: http://us.expasy.org/cgi-bin/pi_tool

Appendix 6
Website: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679194/?tool=pmcentrez

Appendix 7
Website: http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=retrieve&dopt=full_report& list_uids=3561 Appendix 8
Website: http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=retrieve&dopt=full_report& list_uids=3561 Appendix 9
Website: http://www.ebi.ac.uk/Tools/es/cgi-bin/clustalw/result.cgi?tool=clustalw&jobid=clustalw-!
20101203-1611481188&poll=yes

Appendix 10

Website: http://npsa-pbil.ibcp.fr/cgi-bin/secpred_hnn.pl