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CRELD2 cysteine rich with EGF like domains 2 [ Homo sapiens (human) ]

Gene ID: 79174, updated on 20-Mar-2020

Summary

Official Symbol
CRELD2provided by HGNC
Official Full Name
cysteine rich with EGF like domains 2provided by HGNC
Primary source
HGNC:HGNC:28150
See related
Ensembl:ENSG00000184164 MIM:607171
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
Expression
Ubiquitous expression in thyroid (RPKM 19.3), testis (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See CRELD2 in Genome Data Viewer
Location:
22q13.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (49918634..49927540)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50312283..50321188)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377205 Neighboring gene atherin-like Neighboring gene zinc finger BED-type containing 4 Neighboring gene ALG12 alpha-1,6-mannosyltransferase Neighboring gene uncharacterized LOC107985553 Neighboring gene microRNA 6821 Neighboring gene Pim-3 proto-oncogene, serine/threonine kinase Neighboring gene interleukin 17 receptor E like

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44190, FLJ98733, MGC11256, DKFZp667O055

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide isomerase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein disulfide isomerase CRELD2
Names
cysteine-rich with EGF-like domain protein 2
NP_001128573.1
NP_001271246.1
NP_001271247.1
NP_077300.3
XP_005261794.1
XP_005261795.1
XP_011528674.1
XP_016884427.1

NCBI Reference Sequences (RefSeq)

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_001135101.3NP_001128573.1  protein disulfide isomerase CRELD2 isoform a precursor

    See identical proteins and their annotated locations for NP_001128573.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as CRELD2-epsilon).
    Source sequence(s)
    BI462292, DQ470679
    Consensus CDS
    CCDS46730.1
    UniProtKB/Swiss-Prot
    Q6UXH1
    Related
    ENSP00000383938.3, ENST00000404488.7
    Conserved Domains (3) summary
    smart00261
    Location:304344
    FU; Furin-like repeats
    pfam11938
    Location:31120
    DUF3456; TLR4 regulator and MIR-interacting MSAP
    cl00057
    Location:337377
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  2. NM_001284317.2NP_001271246.1  protein disulfide isomerase CRELD2 isoform c precursor

    See identical proteins and their annotated locations for NP_001271246.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (c, also known as CRELD2-gamma) that is shorter than isoform a.
    Source sequence(s)
    BI462292, BQ003113, DQ470677
    Consensus CDS
    CCDS63516.1
    UniProtKB/Swiss-Prot
    Q6UXH1
    Related
    ENSP00000384111.3, ENST00000403427.3
    Conserved Domains (3) summary
    smart00261
    Location:194231
    FU; Furin-like repeats
    pfam11938
    Location:31120
    DUF3456; TLR4 regulator and MIR-interacting MSAP
    cl00057
    Location:260300
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. NM_001284318.2NP_001271247.1  protein disulfide isomerase CRELD2 isoform d precursor

    See identical proteins and their annotated locations for NP_001271247.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (d, also known as CRELD2-alpha) that is shorter than isoform a.
    Source sequence(s)
    BC002894, BI462292, BQ003113
    Consensus CDS
    CCDS63515.1
    UniProtKB/Swiss-Prot
    Q6UXH1
    Related
    ENSP00000386034.3, ENST00000407217.7
    Conserved Domains (3) summary
    smart00261
    Location:194230
    FU; Furin-like repeats
    pfam11938
    Location:31120
    DUF3456; TLR4 regulator and MIR-interacting MSAP
    cl00057
    Location:256296
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  4. NM_024324.5NP_077300.3  protein disulfide isomerase CRELD2 isoform b precursor

    See identical proteins and their annotated locations for NP_077300.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b, also known as CRELD2-delta) that is shorter than isoform a.
    Source sequence(s)
    AY358355, BI462292
    Consensus CDS
    CCDS14082.1
    UniProtKB/Swiss-Prot
    Q6UXH1
    Related
    ENSP00000332223.4, ENST00000328268.8
    Conserved Domains (3) summary
    smart00261
    Location:194230
    FU; Furin-like repeats
    pfam11938
    Location:31120
    DUF3456; TLR4 regulator and MIR-interacting MSAP
    cl00057
    Location:288328
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RNA

  1. NR_104295.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an exon and uses an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK308692, AL671710, BI462292, BQ003113

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    49918634..49927540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261737.3XP_005261794.1  protein disulfide isomerase CRELD2 isoform X1

    Conserved Domains (3) summary
    smart00261
    Location:305345
    FU; Furin-like repeats
    pfam11938
    Location:31120
    DUF3456; TLR4 regulator and MIR-interacting MSAP
    cl00057
    Location:338378
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  2. XM_005261738.5XP_005261795.1  protein disulfide isomerase CRELD2 isoform X2

    See identical proteins and their annotated locations for XP_005261795.1

    UniProtKB/Swiss-Prot
    Q6UXH1
    Related
    ENST00000483652.5
    Conserved Domains (3) summary
    smart00261
    Location:194230
    FU; Furin-like repeats
    pfam11938
    Location:31120
    DUF3456; TLR4 regulator and MIR-interacting MSAP
    cl00057
    Location:288328
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. XM_011530372.3XP_011528674.1  protein disulfide isomerase CRELD2 isoform X4

    Related
    ENSP00000387769.1, ENST00000450207.5
    Conserved Domains (1) summary
    pfam11938
    Location:31120
    DUF3456; TLR4 regulator and MIR-interacting MSAP
  4. XM_017028938.1XP_016884427.1  protein disulfide isomerase CRELD2 isoform X3

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