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_021333.1 RefSeqGene
- Range
- 5001..91173
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001173533.1 → NP_001167004.1 integral membrane protein DGCR2/IDD isoform 2 precursor
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
- Source sequence(s)
-
AK304382, AW502246, BC040500, DA494775
- Consensus CDS
-
CCDS54496.1
- UniProtKB/Swiss-Prot
-
P98153
- UniProtKB/TrEMBL
-
Q8IWC8
- Related
- ENSP00000440062, ENST00000537045
- Conserved Domains (2) summary
-
- cd03599
Location:74 – 226
Blast Score: 849
- CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)
- cl02515
Location:230 – 288
Blast Score: 126
- VWC; von Willebrand factor type C domain
-
NM_001173534.1 → NP_001167005.1 integral membrane protein DGCR2/IDD isoform 3 precursor
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (3) lacks two internal segments, compared to isoform 1.
- Source sequence(s)
-
AK296337, AW502246, BC032430, BC040500, DA494775
- UniProtKB/TrEMBL
-
B7Z3T5
- UniProtKB/Swiss-Prot
-
P98153
- UniProtKB/TrEMBL
-
Q8IWC8
- Conserved Domains (2) summary
-
- cd03599
Location:71 – 223
Blast Score: 848
- CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)
- cl02515
Location:227 – 285
Blast Score: 126
- VWC; von Willebrand factor type C domain
-
NM_001184781.1 → NP_001171710.1 integral membrane protein DGCR2/IDD isoform 4 precursor
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (4) lacks a short internal segment, compared to isoform 1.
- Source sequence(s)
-
AK296337, AW502246, CR936871, DA494775
- UniProtKB/TrEMBL
-
B7Z3T5
- UniProtKB/TrEMBL
-
Q5CZ70
- Conserved Domains (3) summary
-
- cd00112
Location:30 – 66
Blast Score: 122
- LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
- cd03599
Location:112 – 264
Blast Score: 840
- CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)
- cl02515
Location:268 – 326
Blast Score: 119
- VWC; von Willebrand factor type C domain
-
NM_005137.2 → NP_005128.1 integral membrane protein DGCR2/IDD isoform 1 precursor
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
- Source sequence(s)
-
AW502246, BC040500, D79985, DA494775
- Consensus CDS
-
CCDS33598.1
- UniProtKB/Swiss-Prot
-
P98153
- UniProtKB/TrEMBL
-
Q8IWC8
- Related
- ENSP00000263196, OTTHUMP00000196406, ENST00000263196, OTTHUMT00000316504
- Conserved Domains (3) summary
-
- cd00112
Location:30 – 66
Blast Score: 122
- LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
- cd03599
Location:115 – 267
Blast Score: 841
- CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)
- cl02515
Location:271 – 329
Blast Score: 120
- VWC; von Willebrand factor type C domain
RNA
-
NR_033674.1 RNA Sequence
- Description
- Transcript Variant: This variant (5) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
AK295697, AW502246, CR936871, DA494775
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.p5 Primary Assembly
Genomic
-
NC_000022.10 Reference GRCh37.p5 Primary Assembly
- Range
- 19023795..19109967, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000154.1 Alternate HuRef
- Range
- 2645051..2731450, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)