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    INKA2 inka box actin regulator 2 [ Homo sapiens (human) ]

    Gene ID: 55924, updated on 10-Dec-2024

    Summary

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    Official Symbol
    INKA2provided by HGNC
    Official Full Name
    inka box actin regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:28045
    See related
    Ensembl:ENSG00000197852 MIM:620403; AllianceGenome:HGNC:28045
    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
    FAM212B; C1orf183
    Summary
    Enables protein kinase binding activity. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 6.5), heart (RPKM 3.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INKA2 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111722064..111755797, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111736962..111770699, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (112264686..112298419, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RAP1A, member of RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1187 Neighboring gene RNA, U6 small nuclear 151, pseudogene Neighboring gene keratin 18 pseudogene 57 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:112267545-112268314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1507 Neighboring gene uncharacterized LOC101928718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1508 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112298273-112299157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1509 Neighboring gene INKA2 antisense RNA 1 Neighboring gene uncharacterized LOC124904312 Neighboring gene DEAD-box helicase 20 Neighboring gene potassium voltage-gated channel subfamily D member 3

    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. Fra-2/AP-1 regulates melanoma cell metastasis by downregulating Fam212b. Chen GL, et al. Cell Death Differ, 2021 Apr. PMID 33188281, Free PMC Article
    2. Expression profiles of inka2 in the murine nervous system. Iwasaki Y, et al. Gene Expr Patterns, 2015 Sep-Nov. PMID 26292052
    3. An in cellulo-derived structure of PAK4 in complex with its inhibitor Inka1. Baskaran Y, et al. Nat Commun, 2015 Nov 26. PMID 26607847, Free PMC Article
    4. INKA2, a novel p53 target that interacts with the serine/threonine kinase PAK4. Liu YY, et al. Int J Oncol, 2019 Jun. PMID 31081062, Free PMC Article
    5. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. Horikawa Y, et al. Clin Cancer Res, 2008 Dec 1. PMID 19047128, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fra-2/AP-1 regulates melanoma cell metastasis by downregulating Fam212b.
      Title: Fra-2/AP-1 regulates melanoma cell metastasis by downregulating Fam212b.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Genetic variation in MicroRNA genes and risk of oral premalignant lesions.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31105

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PAK4-inhibitor INKA2
    Names
    HInca-r
    family with sequence similarity 212 member B
    inca-r
    induced in neural crest by AP2-alpha protein-related homolog
    protein FAM212B

    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_019099.5 → NP_061972.1  PAK4-inhibitor INKA2 isoform 1

      See identical proteins and their annotated locations for NP_061972.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL049557, DA306915
      Consensus CDS
      CCDS841.1
      UniProtKB/Swiss-Prot
      B3KP38, B4DF94, Q9NTI6, Q9NTI7
      Related
      ENSP00000349805.5, ENST00000357260.6
      Conserved Domains (1) summary
      pfam15342
      Location:136 → 175
      FAM212; FAM212 family

    2. NM_198926.2 → NP_945120.1  PAK4-inhibitor INKA2 isoform 2

      See identical proteins and their annotated locations for NP_945120.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL049557, AL137199
      UniProtKB/Swiss-Prot
      Q9NTI7
      UniProtKB/TrEMBL
      A0A1W2PL72
      Conserved Domains (1) summary
      pfam15342
      Location:121 → 160
      FAM212; FAM212 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      111722064..111755797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541783.3 → XP_011540085.1  PAK4-inhibitor INKA2 isoform X1

      See identical proteins and their annotated locations for XP_011540085.1

      Conserved Domains (1) summary
      pfam15342
      Location:99 → 156
      FAM212; FAM212 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      111736962..111770699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337706.1 → XP_054193681.1  PAK4-inhibitor INKA2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NTI7.1 GenPept UniProtKB/Swiss-Prot:Q9NTI7

    Gene LinkOut

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

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