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    GTF2H2C_2 GTF2H2 family member C, copy 2 [ Homo sapiens (human) ]

    Gene ID: 730394, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GTF2H2C_2provided by HGNC
    Official Full Name
    GTF2H2 family member C, copy 2provided by HGNC
    Primary source
    HGNC:HGNC:35418
    See related
    AllianceGenome:HGNC:35418
    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
    GTF2H2D
    Summary
    Predicted to enable zinc ion binding activity. Predicted to be involved in nucleotide-excision repair and regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Annotation category: only annotated on alternate loci in reference assembly
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    Genomic context

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    See GTF2H2C_2 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 (ALT_REF_LOCI_1) NW_003315917.2 (965642..1035028, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 (PATCHES) NW_003315917.2 (965642..997922, complement)

    NW_003315917.2Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68929562-68930228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68928896-68929561 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene NAIP promoter region Neighboring gene NAIP pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:70380837-70381338 Neighboring gene OCLN pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 13B-2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70393075-70393946 Neighboring gene NAIP pseudogene 4 Neighboring gene cadherin 12 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:70499789-70500290 Neighboring gene GUSB pseudogene 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Initial sequencing and analysis of the human genome. Lander ES, et al. Nature, 2001 Feb 15. PMID 11237011
    2. Finishing the euchromatic sequence of the human genome. International Human Genome Sequencing Consortium. Nature, 2004 Oct 21. PMID 15496913
    3. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    4. Identification of Novel Nuclear Factor of Activated T Cell (NFAT)-associated Proteins in T Cells. Gabriel CH, et al. J Biol Chem, 2016 Nov 11. PMID 27637333, Free PMC Article
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    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

    • FLJ96295, MGC75049, MGC75050, MGC102806, MGC198575, DKFZp686M0199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    part_of transcription factor TFIIH core complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of transcription factor TFIIH holo complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    general transcription factor IIH subunit 2-like protein
    Names
    general transcription factor IIH polypeptide 2-like protein
    general transcription factor IIH, polypeptide 2D

    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_001042490.6 → NP_001035955.1  general transcription factor IIH subunit 2-like protein isoform 1

      See identical proteins and their annotated locations for NP_001035955.1

      Status: VALIDATED

      Source sequence(s)
      AC138827
      UniProtKB/Swiss-Prot
      A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      cl06838
      Location:288 → 388
      C1_4; TFIIH C1-like domain
      pfam04056
      Location:64 → 255
      Ssl1; Ssl1-like

    2. NM_001354437.3 → NP_001341366.1  general transcription factor IIH subunit 2-like protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC138827
      UniProtKB/Swiss-Prot
      A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      cl06838
      Location:288 → 388
      C1_4; TFIIH C1-like domain
      pfam04056
      Location:64 → 255
      Ssl1; Ssl1-like

    3. NM_001354438.3 → NP_001341367.1  general transcription factor IIH subunit 2-like protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC138827
      UniProtKB/Swiss-Prot
      A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      cl06838
      Location:288 → 388
      C1_4; TFIIH C1-like domain
      pfam04056
      Location:64 → 255
      Ssl1; Ssl1-like

    4. NM_001354439.2 → NP_001341368.1  general transcription factor IIH subunit 2-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC138827
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      cd01453
      Location:1 → 178
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:231 → 331
      C1_4; TFIIH C1-like domain

    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 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      965642..1035028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329552.1 → XP_054185527.1  general transcription factor IIH subunit 2-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8

    2. XM_054329554.1 → XP_054185529.1  general transcription factor IIH subunit 2-like protein isoform X2

    3. XM_054329551.1 → XP_054185526.1  general transcription factor IIH subunit 2-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8

    4. XM_054329553.1 → XP_054185528.1  general transcription factor IIH subunit 2-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8

    5. XM_054329556.1 → XP_054185531.1  general transcription factor IIH subunit 2-like protein isoform X3

    6. XM_054329555.1 → XP_054185530.1  general transcription factor IIH subunit 2-like protein isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1K8.1 GenPept UniProtKB/Swiss-Prot:Q6P1K8

    Gene LinkOut

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

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