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THUMPD2 THUMP domain containing 2 [ Homo sapiens (human) ]

Gene ID: 80745, updated on 23-Nov-2021

Summary

Official Symbol
THUMPD2provided by HGNC
Official Full Name
THUMP domain containing 2provided by HGNC
Primary source
HGNC:HGNC:14890
See related
Ensembl:ENSG00000138050 MIM:611751
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
C2orf8
Expression
Ubiquitous expression in bone marrow (RPKM 6.9), ovary (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

See THUMPD2 in Genome Data Viewer
Location:
2p22.1; 2p22-p21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (39736060..39779276, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39963200..40006416, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase kinase 3 Neighboring gene RNA, U6 small nuclear 373, pseudogene Neighboring gene MAP4K3 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 10578 Neighboring gene transmembrane protein 178A Neighboring gene uncharacterized LOC112268436 Neighboring gene zinc finger protein 19 pseudogene Neighboring gene SLC8A1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association scan for five major dimensions of personality.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2454

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tRNA (guanine) methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
THUMP domain-containing protein 2
Names
SAM-dependent methyltransferase
epididymis secretory sperm binding protein

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_001321468.1NP_001308397.1  THUMP domain-containing protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (2) summary
    smart00981
    Location:186264
    THUMP; The THUMP domain is named after after thiouridine synthases, methylases and PSUSs
    cl17173
    Location:274353
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. NM_001321469.1NP_001308398.1  THUMP domain-containing protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (2) summary
    smart00981
    Location:93171
    THUMP; The THUMP domain is named after after thiouridine synthases, methylases and PSUSs
    cl17173
    Location:181326
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. NM_001321470.1NP_001308399.1  THUMP domain-containing protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007253, AF380577, AK226034, AK298178, DC379776
    UniProtKB/TrEMBL
    B4DP37, Q969Z2
    Conserved Domains (2) summary
    smart00981
    Location:93155
    THUMP; The THUMP domain is named after after thiouridine synthases, methylases and PSUSs
    cl17173
    Location:165310
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  4. NM_001321474.1NP_001308403.1  THUMP domain-containing protein 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (2) summary
    smart00981
    Location:186264
    THUMP; The THUMP domain is named after after thiouridine synthases, methylases and PSUSs
    cl17173
    Location:274323
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  5. NM_001321475.1NP_001308404.1  THUMP domain-containing protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (2) summary
    smart00981
    Location:93171
    THUMP; The THUMP domain is named after after thiouridine synthases, methylases and PSUSs
    cl17173
    Location:181260
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  6. NM_001321477.1NP_001308406.1  THUMP domain-containing protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (1) summary
    cl17173
    Location:40185
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  7. NM_001321478.1NP_001308407.1  THUMP domain-containing protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (1) summary
    cl17173
    Location:40185
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  8. NM_001321479.1NP_001308408.1  THUMP domain-containing protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (1) summary
    cl17173
    Location:40185
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  9. NM_001321480.1NP_001308409.1  THUMP domain-containing protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (1) summary
    cl17173
    Location:40185
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  10. NM_001321481.1NP_001308410.1  THUMP domain-containing protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
    Conserved Domains (1) summary
    cl17173
    Location:40185
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  11. NM_025264.5NP_079540.2  THUMP domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_079540.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the functional protein (isoform 1).
    Source sequence(s)
    AF380578, AK226034, BC004163, DC379776
    Consensus CDS
    CCDS1805.2
    UniProtKB/Swiss-Prot
    Q9BTF0
    UniProtKB/TrEMBL
    D6W593, Q969Z2
    Related
    ENSP00000423933.1, ENST00000505747.6
    Conserved Domains (2) summary
    smart00981
    Location:186264
    THUMP; The THUMP domain is named after after thiouridine synthases, methylases and PSUSs
    cl17173
    Location:274419
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RNA

  1. NR_028102.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the central coding region resulting in a frameshift, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF380578, AK226034, AL832115, DC379776
    Related
    ENST00000378727.8
  2. NR_135659.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
  3. NR_135660.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
  4. NR_135661.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
  5. NR_135662.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
  6. NR_135663.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253
  7. NR_135664.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007246, AC007253

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    39736060..39779276 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533119.2XP_011531421.1  THUMP domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    cl17173
    Location:66211
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. XM_017005050.2XP_016860539.1  THUMP domain-containing protein 2 isoform X1

  3. XM_017005051.2XP_016860540.1  THUMP domain-containing protein 2 isoform X2

  4. XM_017005054.2XP_016860543.1  THUMP domain-containing protein 2 isoform X6

    Conserved Domains (1) summary
    cl17173
    Location:40185
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  5. XM_017005052.2XP_016860541.1  THUMP domain-containing protein 2 isoform X3

  6. XM_017005053.2XP_016860542.1  THUMP domain-containing protein 2 isoform X5

RNA

  1. XR_001738968.2 RNA Sequence

  2. XR_001738967.2 RNA Sequence

  3. XR_001738966.2 RNA Sequence

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