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.
Genomic
-
NG_009269.1 RefSeqGene
- Range
- 5001..115812
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001042424.2 → NP_001035889.1 histone-lysine N-methyltransferase NSD2 isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (10) contains a novel 5' non-coding exon compared to transcript variant 1, hence has a different 5' UTR. However, it encodes the same isoform (1) as transcript variants 1, 2 and 3.
- Source sequence(s)
-
AF071593, BC032731, BC094825, BM982021, CX866583
- Consensus CDS
-
CCDS33940.1
- UniProtKB/Swiss-Prot
-
O96028
- Conserved Domains (8) summary
-
- cd00084
Location:458 – 507
Blast Score: 124
- HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
- COG2940
Location:959 – 1203
Blast Score: 231
- COG2940; Proteins containing SET domain [General function prediction only]
- cd05837
Location:218 – 337
Blast Score: 442
- MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
- cd05838
Location:878 – 972
Blast Score: 416
- WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
- smart00317
Location:1063 – 1186
Blast Score: 397
- SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- smart00570
Location:1012 – 1062
Blast Score: 158
- AWS; associated with SET domains
- pfam00628
Location:833 – 875
Blast Score: 124
- PHD; PHD-finger
- cl15348
Location:1242 – 1283
Blast Score: 84
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
-
NM_007331.1 → NP_015627.1 histone-lysine N-methyltransferase NSD2 isoform 4
Status: REVIEWED
- Description
- Transcript Variant: This variant (8) contains an additional fragment beyond the 3' end of exon 11, and lacks exons 12-25, as compared to variant 1. This fragment shifts the reading frame and introduces an immediate translation termination. This variant encodes isoform 4, which is much shorter and has a different C-terminus from isoform 1.
- Source sequence(s)
-
AF083391
- Consensus CDS
-
CCDS46999.1
- UniProtKB/Swiss-Prot
-
O96028
- Related
- ENSP00000399251, OTTHUMP00000220792, ENST00000420906, OTTHUMT00000366219
- Conserved Domains (2) summary
-
- cd00084
Location:458 – 507
Blast Score: 111
- HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
- cd05837
Location:218 – 337
Blast Score: 439
- MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
-
NM_133330.2 → NP_579877.1 histone-lysine N-methyltransferase NSD2 isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) lacks exon 12, and contains only 24 exons. It encodes the longest isoform (1).
- Source sequence(s)
-
AF083386, AI695058
- Consensus CDS
-
CCDS33940.1
- UniProtKB/Swiss-Prot
-
O96028
- Related
- ENSP00000372351, OTTHUMP00000220796, ENST00000382895, OTTHUMT00000366269
- Conserved Domains (8) summary
-
- cd00084
Location:458 – 507
Blast Score: 124
- HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
- COG2940
Location:959 – 1203
Blast Score: 231
- COG2940; Proteins containing SET domain [General function prediction only]
- cd05837
Location:218 – 337
Blast Score: 442
- MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
- cd05838
Location:878 – 972
Blast Score: 416
- WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
- smart00317
Location:1063 – 1186
Blast Score: 397
- SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- smart00570
Location:1012 – 1062
Blast Score: 158
- AWS; associated with SET domains
- pfam00628
Location:833 – 875
Blast Score: 124
- PHD; PHD-finger
- cl15348
Location:1242 – 1283
Blast Score: 84
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
-
NM_133331.2 → NP_579878.1 histone-lysine N-methyltransferase NSD2 isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) lacks exon 2 in the 5' UTR, as compared to variant 1. It encodes the same isoform (1) as variants 1 and 3.
- Source sequence(s)
-
AF083387, AI695058
- Consensus CDS
-
CCDS33940.1
- UniProtKB/Swiss-Prot
-
O96028
- Related
- ENSP00000372348, ENST00000382892
- Conserved Domains (8) summary
-
- cd00084
Location:458 – 507
Blast Score: 124
- HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
- COG2940
Location:959 – 1203
Blast Score: 231
- COG2940; Proteins containing SET domain [General function prediction only]
- cd05837
Location:218 – 337
Blast Score: 442
- MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
- cd05838
Location:878 – 972
Blast Score: 416
- WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
- smart00317
Location:1063 – 1186
Blast Score: 397
- SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- smart00570
Location:1012 – 1062
Blast Score: 158
- AWS; associated with SET domains
- pfam00628
Location:833 – 875
Blast Score: 124
- PHD; PHD-finger
- cl15348
Location:1242 – 1283
Blast Score: 84
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
-
NM_133334.2 → NP_579889.1 histone-lysine N-methyltransferase NSD2 isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (7) is missing most of the exons from the 3' end compared to variant 1. It has a different 3' UTR and encodes a shorter isoform (3) with a different C-terminus compared to isoform 1.
- Source sequence(s)
-
AF071594, AL132868
- Consensus CDS
-
CCDS3356.1
- UniProtKB/Swiss-Prot
-
O96028
- Related
- ENSP00000381311, ENST00000398261
- Conserved Domains (2) summary
-
- cd00084
Location:458 – 507
Blast Score: 113
- HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
- cd05837
Location:218 – 337
Blast Score: 440
- MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
-
NM_133335.3 → NP_579890.1 histone-lysine N-methyltransferase NSD2 isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) lacks exons 2 and 3 in the 5' UTR, as compared to variant 1. It encodes the same isoform (1) as variants 1 and 2.
- Source sequence(s)
-
AF071593, AF083388, AI339675, AI695058
- Consensus CDS
-
CCDS33940.1
- UniProtKB/Swiss-Prot
-
O96028
- Related
- ENSP00000372347, ENST00000382891
- Conserved Domains (8) summary
-
- cd00084
Location:458 – 507
Blast Score: 124
- HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
- COG2940
Location:959 – 1203
Blast Score: 231
- COG2940; Proteins containing SET domain [General function prediction only]
- cd05837
Location:218 – 337
Blast Score: 442
- MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
- cd05838
Location:878 – 972
Blast Score: 416
- WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
- smart00317
Location:1063 – 1186
Blast Score: 397
- SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- smart00570
Location:1012 – 1062
Blast Score: 158
- AWS; associated with SET domains
- pfam00628
Location:833 – 875
Blast Score: 124
- PHD; PHD-finger
- cl15348
Location:1242 – 1283
Blast Score: 84
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs
for chromosomes and scaffolds (contigs) from both reference and alternate assemblies.
Model RNAs and proteins are also reported here.
Reference GRCh37.p10 Primary Assembly
Genomic
-
NC_000004.11 Reference GRCh37.p10 Primary Assembly
- Range
- 1873123..1983934
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000136.1 Alternate HuRef
- Range
- 1835879..1925293
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate CHM1_1.0
Genomic
-
NC_018915.1 Alternate CHM1_1.0
- Range
- 1875932..1965280
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
The following Reference Sequences have been suppressed. Explain
These RefSeqs were suppressed for the cited
reason(s). Suppressed RefSeqs do not appear in BLAST databases, related sequence links,
or BLAST links (BLink), but may still be retrieved by clicking on their
accession.version below.
-
NM_014919.1: Suppressed sequence
- Description
- NM_014919.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
-
NM_133332.1: Suppressed sequence
- Description
- NM_133332.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
-
NM_133333.1: Suppressed sequence
- Description
- NM_133333.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
-
NM_133336.2: Suppressed sequence
- Description
- NM_133336.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.