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Gene set: V$SOX9_B1 (C3:TFAC:0209)
Standard nameV$SOX9_B1
Systematic nameC3:TFAC:0209
Brief descriptionGenes with 3'UTR containing motif NNNNAACAATRGNN which matches annotation for SOX9: SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)
CategoryC3: Motif
Sub-categoryTFAC: Transfac
Full description or Abstract

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FA SOX-9
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SY SRY-related HMG-box protein 9; SOX9.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia;
OC eutheria; primates
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CL C0015; HMG; 4.7.1.0.5.
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SZ 509 AA; 56.1 kDa (cDNA)
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SC translated from EMBL #Z46629
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FT 101 184 HMG domain [1].
FT 104 182 HMG domain.
FT 104 174 SM00398; HMG.
FT 105 173 HMG domain (ref. Swissprot #P48436).
FT 105 173 PF00505; HMG_box.
FT 339 379 alanine-/glutamine-/proline-rich region (41/41).
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SF all identified SOX proteins contain HMG domains which facilitate
SF sequence-specific DNA-binding and share more than 50% identity with the HMG
SF domain of SRY (human testis-determining factor);
SF most of the SOX proteins share a core DNA-binding sequence AACAAT (which is
SF called SCBE for SOX core-binding element);
SF they achieve DNA sequence specificity through preferences for flanking
SF nucleotides [1];
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CP highest levels in adult testis, lower in fetal brain, liver, kidney [3]
CN adult spleen, thymus [3]
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FF may play a key role in bone formation and testis development [2];
FF gene found close to the breakpoint of t(2;
FF 17)(q35;
FF q23-24) chromosomal translocation causing campomelic dysplasia, a skeletal
FF malformation syndrome [2] [3];
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RN [1]; RE0014522.
RX MEDLINE; 99141234.
RA Mertin S., McDowall S. G., Harley V. R.
RT The DNA-binding specificity of SOX9 and other SOX proteins
RL Nucleic Acids Res. 27:1359-1364 (1999).
RN [2]; RE0004360.
RX MEDLINE; 95082903.
RA Foster J. W., Dominguez-Steglich M. A., Guioli S., Kwok C., Weller P. A.,
RA Stevanovic M., Weissenbach J., Mansour S., Young I. D., Goodfellow P. N.,
RA Brook J. D., Schafer A. J.
RT Campomelic dysplasia and autosomal sex reversal caused by mutations in an
RT SRY-related gene
RL Nature 372:525-530 (1994).
RN [3]; RE0004381.
RX MEDLINE; 95094274.
RA Wagner T., Wirth J., Meyer J., Zabel B., Held M., Zimmer J., Pasantes J.,
RA Bricarelli F. D., Keutel J., Hustert E., Wolf U., Tommerup N., Schempp W.,
RA Scherer G.
RT Autosomal sex reversal and campomelic dysplasia are caused by mutations in
RT and around the SRY-related gene SOX9
RL Cell 79:1111-1120 (1994).
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Publication URLna
External linksna
Keywords & MeSH headingsna
OrganismHuman,Mouse,Rat,Dog
Contributed byBroad Institute
Source platformSeq_Accession
Downloadgrp|xml|map
Genes

241 genes, 241 accessions (Toggle view)

AccessionGeneTitleLinks
FEN1FEN1flap structure-specific endonuclease 1Source|GeneCards
CBFA2T2CBFA2T2core-binding factor, runt domain, alpha subunit 2; translocated to, 2Source|GeneCards
NACSINEHBP1EH domain binding protein 1Source|GeneCards
RREB1RREB1ras responsive element binding protein 1Source|GeneCards
TIA1TIA1TIA1 cytotoxic granule-associated RNA binding proteinSource|GeneCards
SOX4SOX4SRY (sex determining region Y)-box 4Source|GeneCards
MEIS1MEIS1Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)Source|GeneCards
BCL11BBCL11BB-cell CLL/lymphoma 11B (zinc finger protein)Source|GeneCards
CASC2CASC2Cancer susceptibility candidate 2Source|GeneCards
ILF2ILF2interleukin enhancer binding factor 2, 45kDaSource|GeneCards
TOP2ATOP2Atopoisomerase (DNA) II alpha 170kDaSource|GeneCards
PUM1PUM1pumilio homolog 1 (Drosophila)Source|GeneCards
TLX3TLX3T-cell leukemia, homeobox 3Source|GeneCards
ED1EDAectodysplasin ASource|GeneCards
USP25USP25ubiquitin specific protease 25Source|GeneCards
MLPCSRP3cysteine and glycine-rich protein 3 (cardiac LIM protein)Source|GeneCards
FLJ37099DENND2CDENN/MADD domain containing 2CSource|GeneCards
RTN4RTN4reticulon 4Source|GeneCards
TOP1TOP1topoisomerase (DNA) ISource|GeneCards
ERGERGv-ets erythroblastosis virus E26 oncogene like (avian)Source|GeneCards
FBN2FBN2fibrillin 2 (congenital contractural arachnodactyly)Source|GeneCards
DOCK4DOCK4dedicator of cytokinesis 4Source|GeneCards
DUSP6DUSP6dual specificity phosphatase 6Source|GeneCards
FLJ35630FLJ35630hypothetical protein FLJ35630Source|GeneCards
ABCF2ABCF2ATP-binding cassette, sub-family F (GCN20), member 2Source|GeneCards
MYST3MYST3MYST histone acetyltransferase (monocytic leukemia) 3Source|GeneCards
N4BP1N4BP1Nedd4 binding protein 1Source|GeneCards
PFN2PFN2profilin 2Source|GeneCards
RNPC2RNPC2RNA-binding region (RNP1, RRM) containing 2Source|GeneCards
MAP3K3MAP3K3mitogen-activated protein kinase kinase kinase 3Source|GeneCards
FLJ45832FLJ45832FLJ45832 proteinSource|GeneCards
ZNF277ZNF277zinc finger protein (C2H2 type) 277Source|GeneCards
RCN1RCN1reticulocalbin 1, EF-hand calcium binding domainSource|GeneCards
DPYSL2DPYSL2dihydropyrimidinase-like 2Source|GeneCards
PAK1PAK1p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)Source|GeneCards
PLSCR3PLSCR3phospholipid scramblase 3Source|GeneCards
ZFYVE1ZFYVE1zinc finger, FYVE domain containing 1Source|GeneCards
MFAP5MFAP5microfibrillar associated protein 5Source|GeneCards
KRT14KRT14keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)Source|GeneCards
ELAVL4ELAVL4ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)Source|GeneCards
NR4A1NR4A1nuclear receptor subfamily 4, group A, member 1Source|GeneCards
ADRB2ADRB2adrenergic, beta-2-, receptor, surfaceSource|GeneCards
FALZFALZfetal Alzheimer antigenSource|GeneCards
ZDHHC9ZDHHC9zinc finger, DHHC domain containing 9Source|GeneCards
ACVR2ACVR2activin A receptor, type IISource|GeneCards
DIPADIPAhepatitis delta antigen-interacting protein ASource|GeneCards
HYAL2HYAL2hyaluronoglucosaminidase 2Source|GeneCards
TNRC4TNRC4trinucleotide repeat containing 4Source|GeneCards
SSBP3SSBP3single stranded DNA binding protein 3Source|GeneCards
NEUROD2NEUROD2neurogenic differentiation 2Source|GeneCards
SIX1SIX1sine oculis homeobox homolog 1 (Drosophila)Source|GeneCards
KIAA1468KIAA1468KIAA1468 proteinSource|GeneCards
SCAP1SCAP1src family associated phosphoprotein 1Source|GeneCards
CER1CER1cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)Source|GeneCards
RGS3RGS3regulator of G-protein signalling 3Source|GeneCards
ZA20D1ZA20D1zinc finger, A20 domain containing 1Source|GeneCards
DLC1DLC1deleted in liver cancer 1Source|GeneCards
LOC113251LOC113251c-Mpl binding proteinSource|GeneCards
KIAA0296ZNF646zinc finger protein 646Source|GeneCards
GJA12GJA12gap junction protein, alpha 12, 47kDaSource|GeneCards
HHEXHHEXhematopoietically expressed homeoboxSource|GeneCards
TNPO1TNPO1transportin 1Source|GeneCards
REREREREarginine-glutamic acid dipeptide (RE) repeatsSource|GeneCards
RAB11-FIP2RAB11FIP2RAB11 family interacting protein 2 (class I)Source|GeneCards
VLDLRVLDLRvery low density lipoprotein receptorSource|GeneCards
BASP1BASP1brain abundant, membrane attached signal protein 1Source|GeneCards
POLBPOLBpolymerase (DNA directed), betaSource|GeneCards
ETV1ETV1ets variant gene 1Source|GeneCards
PBX1PBX1pre-B-cell leukemia transcription factor 1Source|GeneCards
CDK8CDK8cyclin-dependent kinase 8Source|GeneCards
HOXC6HOXC6homeo box C6Source|GeneCards
NCAM1NCAM1neural cell adhesion molecule 1Source|GeneCards
MBPMBPmyelin basic proteinSource|GeneCards
NFIBNFIBnuclear factor I/BSource|GeneCards
HOXA2HOXA2homeo box A2Source|GeneCards
ARHGEF19ARHGEF19Rho guanine nucleotide exchange factor (GEF) 19Source|GeneCards
TRIM8TRIM8tripartite motif-containing 8Source|GeneCards
PTMAPTMAprothymosin, alpha (gene sequence 28)Source|GeneCards
FLJ13197FLJ13197hypothetical protein FLJ13197Source|GeneCards
DNAJA2DNAJA2DnaJ (Hsp40) homolog, subfamily A, member 2Source|GeneCards
PDE9APDE9Aphosphodiesterase 9ASource|GeneCards
DLX1DLX1distal-less homeo box 1Source|GeneCards
CADPSCADPSCa2+-dependent activator protein for secretionSource|GeneCards
TRIB2TRIB2tribbles homolog 2 (Drosophila)Source|GeneCards
BCL2L11BCL2L11BCL2-like 11 (apoptosis facilitator)Source|GeneCards
FLJ22471FLJ22471limkain beta 2Source|GeneCards
GNAO1GNAO1guanine nucleotide binding protein (G protein), alpha activating activity polypeptide OSource|GeneCards
C20ORF112C20ORF112chromosome 20 open reading frame 112Source|GeneCards
NASPNASPnuclear autoantigenic sperm protein (histone-binding)Source|GeneCards
CCNJCCNJcyclin JSource|GeneCards
GRK5GRK5G protein-coupled receptor kinase 5Source|GeneCards
DHX40DHX40DEAH (Asp-Glu-Ala-His) box polypeptide 40Source|GeneCards
FLJ39155FLJ39155hypothetical protein FLJ39155Source|GeneCards
RHOBTB1RHOBTB1Rho-related BTB domain containing 1Source|GeneCards
DSIPIDSIPIdelta sleep inducing peptide, immunoreactorSource|GeneCards
SOX5SOX5SRY (sex determining region Y)-box 5Source|GeneCards
FLRT3FLRT3fibronectin leucine rich transmembrane protein 3Source|GeneCards
HOXB7HOXB7homeo box B7Source|GeneCards
RBBP4RBBP4retinoblastoma binding protein 4Source|GeneCards
FLJ44048FLJ44048FLJ44048 proteinSource|GeneCards
CHD6CHD6chromodomain helicase DNA binding protein 6Source|GeneCards
LHX6LHX6LIM homeobox 6Source|GeneCards
SEC24CSEC24CSEC24 related gene family, member C (S. cerevisiae)Source|GeneCards
PPP2R2BPPP2R2Bprotein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoformSource|GeneCards
ZNF6ZNF6zinc finger protein 6 (CMPX1)Source|GeneCards
DKFZP566A1524FAM49Afamily with sequence similarity 49, member ASource|GeneCards
MAML1MAML1mastermind-like 1 (Drosophila)Source|GeneCards
TMEFF1TMEFF1transmembrane protein with EGF-like and two follistatin-like domains 1Source|GeneCards
ZNF502ZNF502zinc finger protein 502Source|GeneCards
PER1PER1period homolog 1 (Drosophila)Source|GeneCards
SH3BP1SH3BP1SH3-domain binding protein 1Source|GeneCards
AF1QMLLT11myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11Source|GeneCards
FLJ39827FLJ39827hypothetical protein FLJ39827Source|GeneCards
FGFR1FGFR1fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)Source|GeneCards
PYMWIBGwithin bgcn homolog (Drosophila)Source|GeneCards
FGFR2FGFR2ffer syndrome, Jackson-Weiss syndrome)Source|GeneCards
CD36CD36CD36 antigen (collagen type I receptor, thrombospondin receptor)Source|GeneCards
STC1STC1stanniocalcin 1Source|GeneCards
C1ORF21C1ORF21chromosome 1 open reading frame 21Source|GeneCards
CPNE1CPNE1RNA binding motif protein 12Source|GeneCards
MPHOSPH1MPHOSPH1M-phase phosphoprotein 1Source|GeneCards
TNFRSF19LTNFRSF19Ltumor necrosis factor receptor superfamily, member 19-likeSource|GeneCards
KLF3KLF3Kruppel-like factor 3 (basic)Source|GeneCards
APSKLK3Kallikrein 3, (prostate specific antigen)Source|GeneCards
KIAA1333KIAA1333KIAA1333Source|GeneCards
NAV1NAV1neuron navigator 1Source|GeneCards
MGC14151MGC14151hypothetical protein MGC14151Source|GeneCards
FBLN5FBLN5fibulin 5Source|GeneCards
RBM9RBM9RNA binding motif protein 9Source|GeneCards
DAAM1DAAM1dishevelled associated activator of morphogenesis 1Source|GeneCards
CTNNB1CTNNB1catenin (cadherin-associated protein), beta 1, 88kDaSource|GeneCards
NEUROD6NEUROD6neurogenic differentiation 6Source|GeneCards
M96MTF2metal response element binding transcription factor 2Source|GeneCards
FLJ32499FLJ32499hypothetical protein FLJ32499Source|GeneCards
C5ORF6FAM53Cfamily with sequence similarity 53, member CSource|GeneCards
C11ORF10C11ORF10chromosome 11 open reading frame 10Source|GeneCards
APRINAPRINandrogen-induced proliferation inhibitorSource|GeneCards
PTPN12PTPN12protein tyrosine phosphatase, non-receptor type 12Source|GeneCards
LRRN1LRRN1leucine rich repeat neuronal 1Source|GeneCards
TBX6TBX6T-box 6Source|GeneCards
PCDH12PCDH12protocadherin 12Source|GeneCards
SLC13A5SLC13A5solute carrier family 13 (sodium-dependent citrate transporter), member 5Source|GeneCards
CHL1CHL1cell adhesion molecule with homology to L1CAM (close homolog of L1)Source|GeneCards
RKHD1RKHD1ring finger and KH domain containing 1Source|GeneCards
NEO1NEO1neogenin homolog 1 (chicken)Source|GeneCards
FANK1FANK1fibronectin type 3 and ankyrin repeat domains 1Source|GeneCards
SPATS2SPATS2spermatogenesis associated, serine-rich 2Source|GeneCards
PRG-3PRG-3plasticity related gene 3Source|GeneCards
OLFM1OLFM1olfactomedin 1Source|GeneCards
PRKCHPRKCHprotein kinase C, etaSource|GeneCards
LOC283932LOC283932hypothetical protein LOC283932Source|GeneCards
DKFZP761B128ZNF664zinc finger protein 664Source|GeneCards
TFAP2BTFAP2Btranscription factor AP-2 beta (activating enhancer binding protein 2 beta)Source|GeneCards
ARCHZBTB8OSzinc finger and BTB domain containing 8 opposite strandSource|GeneCards
DGKADGKAdiacylglycerol kinase, alpha 80kDaSource|GeneCards
CDKN1BCDKN1Bcyclin-dependent kinase inhibitor 1B (p27, Kip1)Source|GeneCards
MARCKSMARCKSmyristoylated alanine-rich protein kinase C substrateSource|GeneCards
C20ORF160C20ORF160chromosome 20 open reading frame 160Source|GeneCards
CDONCDONcell adhesion molecule-related/down-regulated by oncogenesSource|GeneCards
KLHL13KLHL13kelch-like 13 (Drosophila)Source|GeneCards
PHC1PHC1polyhomeotic-like 1 (Drosophila)Source|GeneCards
MYCT1MYCT1myc target 1Source|GeneCards
SPEC1CDC42SE1CDC42 small effector 1Source|GeneCards
INHBAINHBAinhibin, beta A (activin A, activin AB alpha polypeptide)Source|GeneCards
ARF4ARF4ADP-ribosylation factor 4Source|GeneCards
NFIXNFIXnuclear factor I/X (CCAAT-binding transcription factor)Source|GeneCards
C9ORF150C9ORF150chromosome 9 open reading frame 150Source|GeneCards
IGSF4IGSF4immunoglobulin superfamily, member 4Source|GeneCards
PELI2PELI2pellino homolog 2 (Drosophila)Source|GeneCards
DCXDCXdoublecortex; lissencephaly, X-linked (doublecortin)Source|GeneCards
SASH1SASH1SAM and SH3 domain containing 1Source|GeneCards
ERHERHenhancer of rudimentary homolog (Drosophila)Source|GeneCards
FN1FN1fibronectin 1Source|GeneCards
CASKCASKcalcium/calmodulin-dependent serine protein kinase (MAGUK family)Source|GeneCards
SLC39A9SLC39A9solute carrier family 39 (zinc transporter), member 9Source|GeneCards
TCL1ATCL1AT-cell leukemia/lymphoma 1ASource|GeneCards
EBFEBFearly B-cell factorSource|GeneCards
DKFZP566B183NECAP1adaptin-ear-binding coat-associated protein 1Source|GeneCards
ARGBP2SORBS2sorbin and SH3 domain containing 2Source|GeneCards
NGFRNGFRnerve growth factor receptor (TNFR superfamily, member 16)Source|GeneCards
DMDDMDdystrophin (muscular dystrophy, Duchenne and Becker types)Source|GeneCards
UBE3AUBE3Aubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)Source|GeneCards
SYT4SYT4synaptotagmin IVSource|GeneCards
SCDSCDstearoyl-CoA desaturase (delta-9-desaturase)Source|GeneCards
HDAC9HDAC9histone deacetylase 9Source|GeneCards
LOC92162LOC92162similar to RIKEN cDNA 2600017H02Source|GeneCards
ZIC1ZIC1Zic family member 1 (odd-paired homolog, Drosophila)Source|GeneCards
MLLT6MLLT6myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6Source|GeneCards
SPTBN1SPTBN1spectrin, beta, non-erythrocytic 1Source|GeneCards
EFNA1EFNA1ephrin-A1Source|GeneCards
NDPNDPNorrie disease (pseudoglioma)Source|GeneCards
RNF12RNF12ring finger protein 12Source|GeneCards
ELAVL2ELAVL2ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)Source|GeneCards
ZIC4ZIC4Zic family member 4Source|GeneCards
KCNN2KCNN2potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2Source|GeneCards
APBA1APBA1amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)Source|GeneCards
HMGB1HMGB1high-mobility group box 1Source|GeneCards
SLC39A14SLC39A14solute carrier family 39 (zinc transporter), member 14Source|GeneCards
PPP1R14DPPP1R14Dprotein phosphatase 1, regulatory (inhibitor) subunit 14DSource|GeneCards
HOXC10HOXC10homeo box C10Source|GeneCards
TEAD1TEAD1TEA domain family member 1 (SV40 transcriptional enhancer factor)Source|GeneCards
TLE1TLE1transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)Source|GeneCards
DTX1DTX1deltex homolog 1 (Drosophila)Source|GeneCards
SYTL2SYTL2synaptotagmin-like 2Source|GeneCards
SEPHS1SEPHS1selenophosphate synthetase 1Source|GeneCards
ZIC2ZIC2Zic family member 2 (odd-paired homolog, Drosophila)Source|GeneCards
STK38LSTK38Lserine/threonine kinase 38 likeSource|GeneCards
TAL1TAL1T-cell acute lymphocytic leukemia 1Source|GeneCards
PNRC1PNRC1proline-rich nuclear receptor coactivator 1Source|GeneCards
TEKTEKTEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal)Source|GeneCards
HSPG2HSPG2heparan sulfate proteoglycan 2 (perlecan)Source|GeneCards
PIPPINPIPPINRNA-binding protein pippinSource|GeneCards
ELAVL1ELAVL1ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)Source|GeneCards
G3BP2G3BP2Ras-GTPase activating protein SH3 domain-binding protein 2Source|GeneCards
MYT1MYT1myelin transcription factor 1Source|GeneCards
SEMA6CSEMA6Csema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6CSource|GeneCards
FSTFSTfollistatinSource|GeneCards
SOX2SOX2SRY (sex determining region Y)-box 2Source|GeneCards
PCBP2PCBP2poly(rC) binding protein 2Source|GeneCards
TNNI2TNNI2troponin I, skeletal, fastSource|GeneCards
MYO18AMYO18Amyosin XVIIIASource|GeneCards
WEE1WEE1WEE1 homolog (S. pombe)Source|GeneCards
HOXA10HOXA10homeo box A10Source|GeneCards
MAP4K4MAP4K4mitogen-activated protein kinase kinase kinase kinase 4Source|GeneCards
DDX6DDX6DEAD (Asp-Glu-Ala-Asp) box polypeptide 6Source|GeneCards
SLIT2SLIT2Slit homolog 2 (Drosophila)Source|GeneCards
PICALMPICALMphosphatidylinositol binding clathrin assembly proteinSource|GeneCards
MAOBMAOBmonoamine oxidase BSource|GeneCards
DPYSL5DPYSL5dihydropyrimidinase-like 5Source|GeneCards
E2F1E2F1E2F transcription factor 1Source|GeneCards
ZFP29ZSCAN2zinc finger and SCAN domain containing 2Source|GeneCards
C9ORF42C9ORF42chromosome 9 open reading frame 42Source|GeneCards
KCNB2KCNB2potassium voltage-gated channel, Shab-related subfamily, member 2Source|GeneCards
TSPAN-2TSPAN2tetraspanin 2Source|GeneCards
BSNBSNbassoon (presynaptic cytomatrix protein)Source|GeneCards
PPP1R16BPPP1R16Bprotein phosphatase 1, regulatory (inhibitor) subunit 16BSource|GeneCards
RAB5ARAB5ARAB5A, member RAS oncogene familySource|GeneCards
EPHB6EPHB6EphB6Source|GeneCards
FLJ21308PARP8Poly (ADP-ribose) polymerase family, member 8Source|GeneCards
SASTMAST1microtubule associated serine/threonine kinase 1Source|GeneCards
FLJ13479ZNF668zinc finger protein 668Source|GeneCards


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