KREMEN2 kringle containing transmembrane protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KREMEN2provided by HGNC
Official Full Name: kringle containing transmembrane protein 2provided by HGNC
Primary source: HGNC:HGNC:18797
See related: Ensembl:ENSG00000131650 MIM:609899; AllianceGenome:HGNC:18797
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KRM2
Summary: This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression: Biased expression in skin (RPKM 2.2), brain (RPKM 0.7) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2964275..2968380)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2990954..2995059)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (3014276..3018381)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KREMEN2 is upregulated in cancers, consistent with its role in inhibiting Kremen1-induced cell death
Title: Kremen1-induced cell death is regulated by homo- and heterodimerization.
The mRNA expression levels of DKK-1 binding receptor LRP5/6 and Krm1/2 in SCs from patients with MM were significantly higher than those in myeloma cells and in SCs from healthy donors.
Title: Differential expression of DKK-1 binding receptors on stromal cells and myeloma cells results in their distinct response to secreted DKK-1 in myeloma.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in limb development	ISS Inferred from Sequence or Structural Similarity more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ossification	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in early endosome membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: kremen protein 2

Names: dickkopf receptor 2; kringle domain-containing transmembrane protein 2; kringle-containing protein marking the eye and the nose

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)

NM_001253725.2 → NP_001240654.1 kremen protein 2 isoform e precursor

See identical proteins and their annotated locations for NP_001240654.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform e) has a distinct C-terminus and is shorter than isoform d.

Source sequence(s)

AC004235, AK075033, AK223422

Consensus CDS

CCDS58413.1

UniProtKB/TrEMBL

Q53F67

Related

ENSP00000459878.1, ENST00000575885.5

Conserved Domains (3) summary

smart00130
Location:34 → 119

KR; Kringle domain

cd00041
Location:180 → 285

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cl02568
Location:124 → 165

WSC; WSC domain
NM_001253726.2 → NP_001240655.1 kremen protein 2 isoform f precursor

See identical proteins and their annotated locations for NP_001240655.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform f), compared to isoform d.

Source sequence(s)

AK301953, BC003533

Consensus CDS

CCDS58412.1

UniProtKB/TrEMBL

Q53F67

Related

ENSP00000461860.1, ENST00000571007.5

Conserved Domains (3) summary

cd00041
Location:180 → 285

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00108
Location:35 → 119

KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...

cl02568
Location:124 → 165

WSC; WSC domain
NM_024507.4 → NP_078783.1 kremen protein 2 isoform b precursor

See identical proteins and their annotated locations for NP_078783.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also called kremen2b, lacks an exon in the 3' coding region compared to variant 4, resulting in a frameshift. The encoded isoform (b) is shorter and has a distinct C-terminus compared to isoform d.

Source sequence(s)

BC003533, BC009383

Consensus CDS

CCDS10484.1

UniProtKB/TrEMBL

Q53F67

Related

ENSP00000322079.6, ENST00000319500.11

Conserved Domains (3) summary

smart00130
Location:34 → 119

KR; Kringle domain

cd00041
Location:219 → 324

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam01822
Location:124 → 205

WSC; WSC domain
NM_172229.3 → NP_757384.1 kremen protein 2 isoform d precursor

See identical proteins and their annotated locations for NP_757384.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (d).

Source sequence(s)

AB086405, BC003533, BC009383

Consensus CDS

CCDS10483.1

UniProtKB/Swiss-Prot

B4DXF6, I3L2S2, Q8N2J4, Q8NCW0, Q8NCW1, Q96GL8, Q9BTP9

UniProtKB/TrEMBL

Q53F67

Related

ENSP00000304422.5, ENST00000303746.10

Conserved Domains (3) summary

cd00041
Location:219 → 324

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00108
Location:35 → 119

KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...

pfam01822
Location:124 → 205

WSC; WSC domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

2964275..2968380

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

2990954..2995059

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_145347.1: Suppressed sequence

Description

NM_145347.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.
NM_145348.1: Suppressed sequence

Description

NM_145348.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.