AKAP4 (A-kinase anchoring protein 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8852
Gene name A-kinase anchoring protein 4
Gene symbol AKAP4
Synonyms (NCBI Gene)
AKAP 82AKAP-4AKAP82CT99FSC1HIPRKA4hAKAP82p82
Chromosome X
Chromosome location Xp11.22
Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene
miRNA miRNA information provided by mirtarbase database.
12
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
miRTarBase ID miRNA Experiments Reference
MIRT022331 hsa-miR-124-3p Microarray 18668037
MIRT023610 hsa-miR-1-3p Microarray 18668037
MIRT775802 hsa-miR-181a CLIP-seq
MIRT775803 hsa-miR-181b CLIP-seq
MIRT775804 hsa-miR-181c CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (40)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27913189
GO:0005634 Component Nucleus HDA 21630459
GO:0005737 Component Cytoplasm IBA
GO:0005856 Component Cytoskeleton TAS 9822690
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300185 374 ENSG00000147081
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JQC9
Protein name A-kinase anchor protein 4 (AKAP-4) (A-kinase anchor protein 82 kDa) (AKAP 82) (hAKAP82) (Major sperm fibrous sheath protein) (HI) (Protein kinase A-anchoring protein 4) (PRKA4)
Protein function Major structural component of sperm fibrous sheath (PubMed:9822690). Plays a role in sperm motility (PubMed:34415320, PubMed:9822690).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10522 RII_binding_1 215 → 233 RII binding domain Motif
PF05716 AKAP_110 241 → 526 A-kinase anchor protein 110 kDa (AKAP 110) Family
PF05716 AKAP_110 520 → 737 A-kinase anchor protein 110 kDa (AKAP 110) Family
PF05716 AKAP_110 738 → 854 A-kinase anchor protein 110 kDa (AKAP 110) Family
Tissue specificity TISSUE SPECIFICITY: Testis specific; only expressed in round spermatids. {ECO:0000269|PubMed:9514854}.
Sequence 
MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICFVDVSTLNVEDKDYKDA
ASSSSEGNLNLGSLEEKEIIVIKDTEKKDQSKTEGSVCLFKQAPSDPVSVLNWLLSDLQK
YALGFQHALSPSTSTCKHKVGDTEGEYHRASSENCYSVYADQVNIDYLMNRPQNLRLEMT
AAKNTNNNQSPSAPPAKPPSTQRAVISPDGECSIDDLSFYVNRLSSLVIQMAHKEIKEKL
EGKSKCLHHSICPSPGNKERISPRTPASKIASEMAYEAVELTAAEMRGTGEESREGGQKS
FLYSELSNKSKSGDKQMSQRESKEFADSISKGLMVYANQVASDMMVSLMKTLKVHSSGKP
IPASVVLKRVLLRHTKEIVSDLIDSCMKNLHNITGVLMTDSDFVSAVKRNLFNQWKQNAT
DIMEAMLKRLVSALIGEEKETKSQSLSYASLKAGSHDPKCRNQSLEFSTMKAEMKERDKG
KMKSDPCKSLTSAEKVGEHILKEGLTIWNQKQGNSCKVATKACSNKDEKGEKINASTDSL
AKDLIVSALKLIQYHLTQQTKGKDTCEEDCPGSTMGYMAQSTQYEKCGGGQSAKALSVKQ
LESHRAPGPSTCQKENQHLDSQKMDMSNIVLMLIQKLLNENPFKCEDPCEGENKCSEPRA
SKAASMSNRSDKAEEQCQEHQELDCTSGMKQANGQFIDKLVESVMKLCLIMAKYSNDGAA
LAELEEQAASANKPNFRGTRCIHSGAMPQNYQDSLGHEVIVNNQCSTNSLQKQLQAVLQW
IAASQFNVPMLYFMGDKDGQLEKLPQVSAKAAEKGYSVGGLLQEVMKFAKERQPDEAVGK
VARKQLLDWLLANL
Sequence length 854
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (31)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthenozoospermia Asthenozoospermia BEFREE 21255775, 29581387
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 37087050 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23451156
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23451156 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 23764900
★★★★★
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 23764900
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 26590805
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26590805
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29480665 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism Pubtator 38027210 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only