Gene Gene information from NCBI Gene database.
Entrez ID 9043
Gene name Sperm associated antigen 9
Gene symbol SPAG9
Synonyms (NCBI Gene)
CT89HLC-6HLC4HLC6JIP-4JIP4JLPPHETPIG6
Chromosome 17
Chromosome location 17q21.33
Summary This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to
miRNA miRNA information provided by mirtarbase database.
663
miRTarBase ID miRNA Experiments Reference
MIRT017842 hsa-miR-335-5p Microarray 18185580
MIRT019876 hsa-miR-375 Microarray 20215506
MIRT021369 hsa-miR-9-5p Microarray 17612493
MIRT023290 hsa-miR-122-5p Microarray 17612493
MIRT024300 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0001669 Component Acrosomal vesicle IEA
GO:0005078 Function MAP-kinase scaffold activity IBA
GO:0005078 Function MAP-kinase scaffold activity IEA
GO:0005515 Function Protein binding IPI 19644450, 22522702, 25244576, 29125462, 32017888
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605430 14524 ENSG00000008294
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60271
Protein name C-Jun-amino-terminal kinase-interacting protein 4 (JIP-4) (JNK-interacting protein 4) (Cancer/testis antigen 89) (CT89) (Human lung cancer oncogene 6 protein) (HLC-6) (JNK-associated leucine-zipper protein) (JLP) (Mitogen-activated protein kinase 8-intera
Protein function The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:14743216). Regulates lysosomal positioning b
PDB 2W83
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09744 Jnk-SapK_ap_N 24 179 JNK_SAPK-associated protein-1 Family
PF16471 JIP_LZII 404 474 JNK-interacting protein leucine zipper II Coiled-coil
PF19056 WD40_2 946 1183 Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed only in testis on the round spermatids of stage I, II and II. Absent in spermatogonia and spermatocyte. {ECO:0000269|PubMed:9480848}.; TISSUE SPECIFICITY: [Isoform 4]: Expressed in testis and in acute myeloid leukemia (AML) p
Sequence
MELEDGVVYQEEPGGSGAVMSERVSGLAGSIYREFERLIGRYDEEVVKELMPLVVAVLEN
LDSVFAQDQEHQVELELLRDDNEQLITQYEREKALRKHAEEKFIEFEDSQEQEKKDLQTR
VESLESQTRQLELKAKNYADQISRLEEREAELKKEYNALHQRHTEMIHNYMEHLERTKL
H
QLSGSDQLESTAHSRIRKERPISLGIFPLPAGDGLLTPDAQKGGETPGSEQWKFQELSQP
RSHTSLKVSNSPEPQKAVEQEDELSDVSQGGSKATTPASTANSDVATIPTDTPLKEENEG
FVKVTDAPNKSEISKHIEVQVAQETRNVSTGSAENEEKSEVQAIIESTPELDMDKDLSGY
KGSSTPTKGIENKAFDRNTESLFEELSSAGSGLIGDVDEGADLLGMGREVENLILENTQL
LETKNALNIVKNDLIAKVDELTCEKDVLQGELEAVKQAKLKLEEKNRELEEELR
KARAEA
EDARQKAKDDDDSDIPTAQRKRFTRVEMARVLMERNQYKERLMELQEAVRWTEMIRASRE
NPAMQEKKRSSIWQFFSRLFSSSSNTTKKPEPPVNLKYNAPTSHVTPSVKKRSSTLSQLP
GDKSKAFDFLSEETEASLASRREQKREQYRQVKAHVQKEDGRVQAFGWSLPQKYKQVTNG
QGENKMKNLPVPVYLRPLDEKDTSMKLWCAVGVNLSGGKTRDGGSVVGASVFYKDVAGLD
TEGSKQRSASQSSLDKLDQELKEQQKELKNQEELSSLVWICTSTHSATKVLIIDAVQPGN
ILDSFTVCNSHVLCIASVPGARETDYPAGEDLSESGQVDKASLCGSMTSNSSAETDSLLG
GITVVGCSAEGVTGAATSPSTNGASPVMDKPPEMEAENSEVDENVPTAEEATEATEGNAG
SAEDTVDISQTGVYTEHVFTDPLGVQIPEDLSPVYQSSNDSDAYKDQISVLPNEQDLVRE
EAQKMSSLLPTMWLGAQNGCLYVHSSVAQWRKCLHSIKLKDSILSIVHVKGIVLVALADG
TLAIFHRGVDGQWDLSNYHLLDLGRPHHSIRCMTVVHDKVWCGYRNKIYVVQPKAMKIEK
SFDAHPRKESQVRQLAWVGDGVWVSIRLDSTLRLYHAHTYQHLQDVDIEPYVSKMLGTGK
LGFSFVRITALMVSCNRLWVGTGNGVIISIPLTETNKTSGVPG
NRPGSVIRVYGDENSDK
VTPGTFIPYCSMAHAQLCFHGHRDAVKFFVAVPGQVISPQSSSSGTDLTGDKAGPSAQEP
GSQTPLKSMLVISGGEGYIDFRMGDEGGESELLGEDLPLEPSVTKAERSHLIVWQVMYGN
E
Sequence length 1321
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Myogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25951811
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26934841
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 25951811
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 31485599
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 37963657 Stimulate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 30031384
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 29261731
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 23696027, 24788963
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 23696027 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 24349057
★☆☆☆☆
Found in Text Mining only