FHIP2A (FHF complex subunit HOOK interacting protein 2A)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57700
Gene name Gene Name - the full gene name approved by the HGNC.
FHF complex subunit HOOK interacting protein 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FHIP2A
Synonyms (NCBI Gene) Gene synonyms aliases
FAM160B1, KIAA1600, bA106M7.3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.3
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1592013653 G>T Likely-pathogenic Stop gained, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 34882091
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617312 29320 ENSG00000151553
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5W0V3
Protein name FHF complex subunit HOOK interacting protein 2A (FHIP2A)
Protein function Required for proper functioning of the nervous system.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10257 RAI16-like 78 → 495 Retinoic acid induced 16-like protein Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in all tissues tested, highly expressed brain. {ECO:0000269|PubMed:31353455}.; TISSUE SPECIFICITY: [Isoform 2]: Only detected at high levels in testis. {ECO:0000269|PubMed:31353455}.
Sequence 
MFSKFTSILQHAVEALAPSLPLQEDFVYHWKAITHYYIETSDDKAPVTDTNIPSHLEQML
DILVQEENERESGETGPCMEYLLHHKILETLYTLGKADCPPGMKQQVLVFYTKLLGRIRQ
PLLPHINVHRPVQKLIRLCGEVLATPTENEEIQFLCIVCAKLKQDPYLVNFFLENKMKSL
ASKGVPNVISEDTLKGQDSLSTDTGQSRQPEELSGATGMEQTELEDEPPHQMDHLSTSLD
NLSVTSLPEASVVCPNQDYNLVNSLLNLTRSPDGRIAVKACEGLMLLVSLPEPAAAKCLT
QSTCLCELLTDRLASLYKALPQSVDPLDIETVEAINWGLDSYSHKEDASAFPGKRALISF
LSWFDYCDQLIKEAQKTAAVALAKAVHERFFIGVMEPQLMQTSEMGILTSTALLHRIVRQ
VTSDVLLQEMVFFILGEQREPETLAEISRHPLRHRLIEHCDHISDEISIMTLRMFEHLLQ
KPNEHILYNLVLRNLEERNYTEYKPLCPEDKDVVENGLIAGAVDLEEDPLFTDISPENTL
PNQEWLSSSPPATPDHPKNDGKTEVHKIVNSFLCLVPDDAKSSYHVEGTGYDTYLRDAHR
QFRDYCAICLRWEWPGSPKALEKCNLEAAFFEGHFLKVLFDRMGRILDQPYDVNLQVTSV
LSRLSLFPHPHIHEYLLDPYVNLAPGCRSLFSVIVRVVGDLMLRIQRIQDFTPKLLLVRK
RLLGLEPEGPIIDHITLLEGVIVLEEFCKELAAIAFVKYHASSTP
Sequence length 765
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS