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

Gene ID: 730394, updated on 2-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)

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

  • 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

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