SH24B_HUMAN
ID SH24B_HUMAN Reviewed; 431 AA.
AC Q5SQS7; Q5SQS5; Q6ZVW9; Q6ZVZ3;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=SH2 domain-containing protein 4B;
GN Name=SH2D4B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Brain, and Spleen;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5SQS7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SQS7-2; Sequence=VSP_029010, VSP_029012;
CC Name=3;
CC IsoId=Q5SQS7-3; Sequence=VSP_029009, VSP_029011, VSP_029012;
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DR EMBL; AK123885; BAC85715.1; -; mRNA.
DR EMBL; AK123978; BAC85741.1; -; mRNA.
DR EMBL; AC021028; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL731544; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS44449.1; -. [Q5SQS7-3]
DR CCDS; CCDS7370.1; -. [Q5SQS7-2]
DR RefSeq; NP_001139191.1; NM_001145719.1. [Q5SQS7-3]
DR RefSeq; NP_997255.2; NM_207372.2. [Q5SQS7-2]
DR AlphaFoldDB; Q5SQS7; -.
DR SMR; Q5SQS7; -.
DR ELM; Q5SQS7; -.
DR STRING; 9606.ENSP00000345295; -.
DR iPTMnet; Q5SQS7; -.
DR PhosphoSitePlus; Q5SQS7; -.
DR BioMuta; SH2D4B; -.
DR DMDM; 74743565; -.
DR jPOST; Q5SQS7; -.
DR MassIVE; Q5SQS7; -.
DR PaxDb; Q5SQS7; -.
DR PeptideAtlas; Q5SQS7; -.
DR PRIDE; Q5SQS7; -.
DR ProteomicsDB; 63819; -. [Q5SQS7-1]
DR ProteomicsDB; 63820; -. [Q5SQS7-2]
DR ProteomicsDB; 63821; -. [Q5SQS7-3]
DR Antibodypedia; 48780; 67 antibodies from 16 providers.
DR DNASU; 387694; -.
DR Ensembl; ENST00000313455.5; ENSP00000314242.4; ENSG00000178217.15. [Q5SQS7-3]
DR Ensembl; ENST00000339284.6; ENSP00000345295.2; ENSG00000178217.15. [Q5SQS7-2]
DR GeneID; 387694; -.
DR KEGG; hsa:387694; -.
DR UCSC; uc001kck.1; human. [Q5SQS7-1]
DR CTD; 387694; -.
DR DisGeNET; 387694; -.
DR GeneCards; SH2D4B; -.
DR HGNC; HGNC:31440; SH2D4B.
DR HPA; ENSG00000178217; Not detected.
DR neXtProt; NX_Q5SQS7; -.
DR OpenTargets; ENSG00000178217; -.
DR PharmGKB; PA134943660; -.
DR VEuPathDB; HostDB:ENSG00000178217; -.
DR eggNOG; ENOG502QVV5; Eukaryota.
DR GeneTree; ENSGT00940000159732; -.
DR HOGENOM; CLU_029296_0_0_1; -.
DR InParanoid; Q5SQS7; -.
DR OrthoDB; 782492at2759; -.
DR PhylomeDB; Q5SQS7; -.
DR TreeFam; TF336893; -.
DR PathwayCommons; Q5SQS7; -.
DR SignaLink; Q5SQS7; -.
DR BioGRID-ORCS; 387694; 7 hits in 1068 CRISPR screens.
DR GenomeRNAi; 387694; -.
DR Pharos; Q5SQS7; Tdark.
DR PRO; PR:Q5SQS7; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5SQS7; protein.
DR Bgee; ENSG00000178217; Expressed in secondary oocyte and 39 other tissues.
DR ExpressionAtlas; Q5SQS7; baseline and differential.
DR Genevisible; Q5SQS7; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR CDD; cd10351; SH2_SH2D4B; 1.
DR Gene3D; 3.30.505.10; -; 1.
DR InterPro; IPR000980; SH2.
DR InterPro; IPR036860; SH2_dom_sf.
DR InterPro; IPR035839; SH2D4B_SH2.
DR Pfam; PF00017; SH2; 1.
DR PRINTS; PR00401; SH2DOMAIN.
DR SMART; SM00252; SH2; 1.
DR SUPFAM; SSF55550; SSF55550; 1.
DR PROSITE; PS50001; SH2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; SH2 domain.
FT CHAIN 1..431
FT /note="SH2 domain-containing protein 4B"
FT /id="PRO_0000308600"
FT DOMAIN 325..417
FT /note="SH2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00191"
FT REGION 211..234
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..61
FT /note="MLQQILHDMYIDPELLAELSDVQKHILFYKMREEQLRRWKERETWEALAQDE
FT GLRPPKTKR -> MLPEDSGGSPDAA (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029009"
FT VAR_SEQ 61
FT /note="R -> RA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029010"
FT VAR_SEQ 285
FT /note="V -> VS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029011"
FT VAR_SEQ 329..431
FT /note="IISREDAEALLENMTEGAFLVRVSEKIWGYTLSYRLQKGFKHFLVDASGDFY
FT SFLGVDPNRHATLTDLVDFHKEEIITVSGGELLQEPCGQRDSPPDYHLLFE -> GNYH
FT CFRRRVTSGTLRTEGQPTRLPSVV (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029012"
FT VARIANT 237
FT /note="H -> R (in dbSNP:rs7075840)"
FT /id="VAR_056987"
FT VARIANT 239
FT /note="S -> L (in dbSNP:rs11817391)"
FT /id="VAR_056988"
FT CONFLICT 148
FT /note="D -> G (in Ref. 1; BAC85715)"
FT /evidence="ECO:0000305"
FT CONFLICT 177
FT /note="Q -> R (in Ref. 1; BAC85715)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 431 AA; 51232 MW; 5AB83BC426B0F8E9 CRC64;
MLQQILHDMY IDPELLAELS DVQKHILFYK MREEQLRRWK ERETWEALAQ DEGLRPPKTK
RASDKHIQWL LGADGEVWVW IMGEGPGDKP YEEISEELIA ERARLQAQRE AEELWRQKEA
EITKKFRDAL ANEKARILAE KWKVEMEDRK AAKVLEERIH EEFKRKEEEE RKRGEEQIRL
QEEQRAKELY WTLKQAQLHC QASEKEEREW EEQLRRSKAA DEERSRRAQR ARDEYRHHSL
RAIQKGTVAG LSSMFRELGQ SHEQEARLYH HLPDPGLPQP LALPVRTWER PLRPVSRDVI
VRWFKEEQLP RRAGFERNTK FIAPWFHGII SREDAEALLE NMTEGAFLVR VSEKIWGYTL
SYRLQKGFKH FLVDASGDFY SFLGVDPNRH ATLTDLVDFH KEEIITVSGG ELLQEPCGQR
DSPPDYHLLF E
