KIRREL2 kirre like nephrin family adhesion molecule 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIRREL2provided by HGNC
Official Full Name: kirre like nephrin family adhesion molecule 2provided by HGNC
Primary source: HGNC:HGNC:18816
See related: Ensembl:ENSG00000126259 MIM:607762; AllianceGenome:HGNC:18816
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: NLG1; NEPH3; FILTRIN
Summary: This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]
Expression: Biased expression in pancreas (RPKM 5.8), kidney (RPKM 0.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35851399..35867136)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38397153..38412890)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36347813..36358038)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

SNP V353M confers high risk of renal failure in primary hematuric glomerulopathies and predisposition to microalbuminuria in the general population
Title: A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
summarize the current knowledge of the functions of nephrin and Neph-family proteins and transcription factors and agents that control nephrin and Neph3 gene expression.
Title: Functions of the podocyte proteins nephrin and Neph3 and the transcriptional regulation of their genes.
Transcription of nephrin-Neph3 gene pair is synergistically activated by WT1 and NF-kappaB and silenced by DNA methylation.
Title: Transcription of nephrin-Neph3 gene pair is synergistically activated by WT1 and NF-κB and silenced by DNA methylation.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
NF-kappaB and Sp1 response elements are essential for the basal transcriptional activity of the Neph3 promoter.
Title: Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1.
KIRREL2 protein is a beta-cell-expressed Ig domain protein and may be involved in pancreas development or beta cell function
Title: Kirrel2, a novel immunoglobulin superfamily gene expressed primarily in beta cells of the pancreatic islets.
Filtrin can act as autoantigen, and autoantibodies against these can be detected in patients with type 1 diabetes.
Title: Densin and filtrin in the pancreas and in the kidney, targets for humoral autoimmunity in patients with type 1 diabetes.
Identification of Filtrin as a member of nephrin-like proteins.
Title: Filtrin is a novel member of nephrin-like proteins.
Filtrin is a novel protein with substantial homology to nephrin. It is a transmembrane protein of the immunoglobulin superfamily (apparent molecular weight 107 kDa) and most prominently expressed in the pancreas, lymph nodes as well as kidney glomerulus.
Title: Filtrin is a novel member of nephrin-like proteins.

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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

Function	Evidence Code	Pubs
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in slit diaphragm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kin of IRRE-like protein 2

Names: kin of IRRE like 2; kin of irregular chiasm-like protein 2; nephrin-like gene 1; nephrin-like protein 3

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.

Genomic

NG_051206.1 RefSeqGene

Range

10277..20502

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001329530.2 → NP_001316459.1 kin of IRRE-like protein 2 isoform d precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 3. The encoded isoform (d) is shorter than isoform c.

Source sequence(s)

AB593116, AL529115, BU730182

UniProtKB/Swiss-Prot

Q6UWL6

Conserved Domains (3) summary

smart00410
Location:184 → 258

IG_like; Immunoglobulin like

pfam07679
Location:267 → 345

I-set; Immunoglobulin I-set domain

cl11960
Location:347 → 451

Ig; Immunoglobulin domain
NM_001363667.2 → NP_001350596.1 kin of IRRE-like protein 2 isoform e precursor

Status: REVIEWED

Source sequence(s)

AB593116, AK307865, AL529115, BM693057

Consensus CDS

CCDS86753.1

UniProtKB/TrEMBL

K7EJS8

Related

ENSP00000465305.1, ENST00000592409.5

Conserved Domains (4) summary

cd05759
Location:141 → 223

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

smart00410
Location:30 → 119

IG_like; Immunoglobulin like

pfam13927
Location:312 → 378

Ig_3; Immunoglobulin domain

cl11960
Location:397 → 501

Ig; Immunoglobulin domain
NM_032123.7 → NP_115499.5 kin of IRRE-like protein 2 isoform a precursor

See identical proteins and their annotated locations for NP_115499.5

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and contains an alternate intron in the 3' coding region, which results in a frameshift compared to variant 3. The encoded isoform (a) is shorter and has a distinct C-terminus compared to isoform c.

Source sequence(s)

AB593116, AC002133, BM693057

Consensus CDS

CCDS12479.1

UniProtKB/TrEMBL

A0A0A0MQV3

Related

ENSP00000262625.6, ENST00000262625.7

Conserved Domains (5) summary

cd05759
Location:141 → 223

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

smart00408
Location:38 → 106

IGc2; Immunoglobulin C-2 Type

smart00410
Location:30 → 119

IG_like; Immunoglobulin like

pfam07679
Location:317 → 395

I-set; Immunoglobulin I-set domain

cl11960
Location:397 → 501

Ig; Immunoglobulin domain
NM_199179.4 → NP_954648.3 kin of IRRE-like protein 2 isoform b precursor

See identical proteins and their annotated locations for NP_954648.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and contains an alternate intron in the 3' coding region, which results in a frameshift compared to variant 3. The encoded isoform (b) is shorter and has a distinct C-terminus compared to isoform c.

Source sequence(s)

AB593116, AC002133, BM693057

Consensus CDS

CCDS12480.1

UniProtKB/TrEMBL

A0A0A0MRC1

Related

ENSP00000345067.5, ENST00000347900.10

Conserved Domains (3) summary

smart00410
Location:184 → 258

IG_like; Immunoglobulin like

pfam07679
Location:267 → 345

I-set; Immunoglobulin I-set domain

cl11960
Location:347 → 451

Ig; Immunoglobulin domain
NM_199180.4 → NP_954649.3 kin of IRRE-like protein 2 isoform c precursor

See identical proteins and their annotated locations for NP_954649.3

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AB593116, BC007312, BM693057

Consensus CDS

CCDS12481.1

UniProtKB/Swiss-Prot

C9JHF1, C9JJ76, F1T0I2, Q6P1R1, Q6UWL6, Q7Z5P1, Q7Z5P2, Q96IQ8, Q9H0T1

Related

ENSP00000353331.4, ENST00000360202.10

Conserved Domains (5) summary

cd05759
Location:141 → 223

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

smart00408
Location:38 → 106

IGc2; Immunoglobulin C-2 Type

smart00410
Location:30 → 119

IG_like; Immunoglobulin like

pfam07679
Location:317 → 395

I-set; Immunoglobulin I-set domain

cl11960
Location:397 → 501

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

35851399..35867136

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527362.2 → XP_011525664.1 kin of IRRE-like protein 2 isoform X1

See identical proteins and their annotated locations for XP_011525664.1

UniProtKB/Swiss-Prot

C9JHF1, C9JJ76, F1T0I2, Q6P1R1, Q6UWL6, Q7Z5P1, Q7Z5P2, Q96IQ8, Q9H0T1

Conserved Domains (5) summary

cd05759
Location:141 → 223

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

smart00408
Location:38 → 106

IGc2; Immunoglobulin C-2 Type

smart00410
Location:30 → 119

IG_like; Immunoglobulin like

pfam07679
Location:317 → 395

I-set; Immunoglobulin I-set domain

cl11960
Location:397 → 501

Ig; Immunoglobulin domain
XM_011527363.2 → XP_011525665.1 kin of IRRE-like protein 2 isoform X1

See identical proteins and their annotated locations for XP_011525665.1

UniProtKB/Swiss-Prot

C9JHF1, C9JJ76, F1T0I2, Q6P1R1, Q6UWL6, Q7Z5P1, Q7Z5P2, Q96IQ8, Q9H0T1

Conserved Domains (5) summary

cd05759
Location:141 → 223

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

smart00408
Location:38 → 106

IGc2; Immunoglobulin C-2 Type

smart00410
Location:30 → 119

IG_like; Immunoglobulin like

pfam07679
Location:317 → 395

I-set; Immunoglobulin I-set domain

cl11960
Location:397 → 501

Ig; Immunoglobulin domain
XM_047439500.1 → XP_047295456.1 kin of IRRE-like protein 2 isoform X2

UniProtKB/TrEMBL

K7EJS8
XM_011527365.2 → XP_011525667.1 kin of IRRE-like protein 2 isoform X3

See identical proteins and their annotated locations for XP_011525667.1

Conserved Domains (3) summary

smart00410
Location:184 → 258

IG_like; Immunoglobulin like

pfam07679
Location:267 → 345

I-set; Immunoglobulin I-set domain

cl11960
Location:347 → 451

Ig; Immunoglobulin domain
XM_047439501.1 → XP_047295457.1 kin of IRRE-like protein 2 isoform X4
XM_047439502.1 → XP_047295458.1 kin of IRRE-like protein 2 isoform X4