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

Gene ID: 84063, updated on 13-Mar-2020

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
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

Genomic context

See KIRREL2 in Genome Data Viewer
Location:
19q13.12
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35851635..35867146)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36342552..36358048)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1529 Neighboring gene proline dehydrogenase 2 Neighboring gene NPHS1 adhesion molecule, nephrin Neighboring gene uncharacterized LOC107985317 Neighboring gene amyloid beta precursor like protein 1 Neighboring gene RNA, 7SL, cytoplasmic 402, pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC15718, DKFZp564A1164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
slit diaphragm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_051206.1 RefSeqGene

    Range
    10277..20502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329530.2NP_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:184258
    IG_like; Immunoglobulin like
    pfam07679
    Location:267345
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:347451
    Ig; Immunoglobulin domain
  2. NM_001363667.2NP_001350596.1  kin of IRRE-like protein 2 isoform e precursor

    Status: REVIEWED

    Source sequence(s)
    AB593116, AK307865, AL529115, BM693057
    Consensus CDS
    CCDS86753.1
    Related
    ENSP00000465305.1, ENST00000592409.5
    Conserved Domains (4) summary
    cd05759
    Location:141223
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    smart00410
    Location:30119
    IG_like; Immunoglobulin like
    pfam13927
    Location:312378
    Ig_3; Immunoglobulin domain
    cl11960
    Location:397501
    Ig; Immunoglobulin domain
  3. NM_032123.7NP_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/Swiss-Prot
    Q6UWL6
    UniProtKB/TrEMBL
    A0A0A0MQV3
    Related
    ENSP00000262625.6, ENST00000262625.7
    Conserved Domains (5) summary
    cd05759
    Location:141223
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    smart00408
    Location:38106
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:30119
    IG_like; Immunoglobulin like
    pfam07679
    Location:317395
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:397501
    Ig; Immunoglobulin domain
  4. NM_199179.4NP_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/Swiss-Prot
    Q6UWL6
    UniProtKB/TrEMBL
    A0A0A0MRC1
    Related
    ENSP00000345067.5, ENST00000347900.10
    Conserved Domains (3) summary
    smart00410
    Location:184258
    IG_like; Immunoglobulin like
    pfam07679
    Location:267345
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:347451
    Ig; Immunoglobulin domain
  5. NM_199180.4NP_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
    Q6UWL6
    Related
    ENSP00000353331.4, ENST00000360202.9
    Conserved Domains (5) summary
    cd05759
    Location:141223
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    smart00408
    Location:38106
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:30119
    IG_like; Immunoglobulin like
    pfam07679
    Location:317395
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:397501
    Ig; Immunoglobulin domain

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    35851635..35867146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011525664.1

    UniProtKB/Swiss-Prot
    Q6UWL6
    Conserved Domains (5) summary
    cd05759
    Location:141223
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    smart00408
    Location:38106
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:30119
    IG_like; Immunoglobulin like
    pfam07679
    Location:317395
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:397501
    Ig; Immunoglobulin domain
  2. XM_011527365.1XP_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:184258
    IG_like; Immunoglobulin like
    pfam07679
    Location:267345
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:347451
    Ig; Immunoglobulin domain
  3. XM_011527363.1XP_011525665.1  kin of IRRE-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011525665.1

    UniProtKB/Swiss-Prot
    Q6UWL6
    Conserved Domains (5) summary
    cd05759
    Location:141223
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    smart00408
    Location:38106
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:30119
    IG_like; Immunoglobulin like
    pfam07679
    Location:317395
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:397501
    Ig; Immunoglobulin domain
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