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    FHIP2A FHF complex subunit HOOK interacting protein 2A [ Homo sapiens (human) ]

    Gene ID: 57700, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FHIP2Aprovided by HGNC
    Official Full Name
    FHF complex subunit HOOK interacting protein 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:29320
    See related
    Ensembl:ENSG00000151553 MIM:617312; AllianceGenome:HGNC:29320
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM160B1; KIAA1600; bA106M7.3
    Expression
    Ubiquitous expression in bone marrow (RPKM 14.0), endometrium (RPKM 9.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FHIP2A in Genome Data Viewer
    Location:
    10q25.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (114821780..114899832)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (115715884..115793964)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (116581539..116659591)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene actin binding LIM protein 1 Neighboring gene uncharacterized LOC101927692 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:116581943-116582443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4092 Neighboring gene TATA-box binding protein associated factor 9b pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:116640543-116641171 Neighboring gene Sharpr-MPRA regulatory region 3306 Neighboring gene ribosomal protein L15 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2849 Neighboring gene MPRA-validated peak1102 silencer Neighboring gene RNA, U6 small nuclear 1121, pseudogene Neighboring gene TruB pseudouridine synthase family member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. Mavioğlu RN, et al. Clin Genet, 2019 Nov. PMID 31353455
    2. Cytoplasmic dynein-1 cargo diversity is mediated by the combinatorial assembly of FTS-Hook-FHIP complexes. Christensen JR, et al. Elife, 2021 Dec 9. PMID 34882091, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877
    4. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. Noguchi A, et al. Biol Open, 2018 Mar 12. PMID 29449217, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1600, DKFZp686D10123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FHF complex subunit HOOK interacting protein 2A
    Names
    family with sequence similarity 160 member B1
    protein FAM160B1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135051.2 → NP_001128523.1  FHF complex subunit HOOK interacting protein 2A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL137025, BC037207
      Consensus CDS
      CCDS44480.1
      UniProtKB/TrEMBL
      A0AA34QVS8
      Related
      ENSP00000358253.3, ENST00000369250.7
      Conserved Domains (1) summary
      pfam10257
      Location:78 → 495
      RAI16-like; Retinoic acid induced 16-like protein

    2. NM_020940.4 → NP_065991.3  FHF complex subunit HOOK interacting protein 2A isoform a

      See identical proteins and their annotated locations for NP_065991.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB046820, AI521900, BC037207, CR933692
      Consensus CDS
      CCDS31290.1
      UniProtKB/Swiss-Prot
      Q5H9P7, Q5W0V2, Q5W0V3, Q8IY76, Q9HCH2
      UniProtKB/TrEMBL
      A0AA34QVS8
      Related
      ENSP00000358251.4, ENST00000369248.9
      Conserved Domains (1) summary
      pfam10257
      Location:78 → 495
      RAI16-like; Retinoic acid induced 16-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      114821780..114899832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      115715884..115793964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W0V3.1 GenPept UniProtKB/Swiss-Prot:Q5W0V3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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