KIDINS220 kinase D interacting substrate 220 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIDINS220provided by HGNC
Official Full Name: kinase D interacting substrate 220provided by HGNC
Primary source: HGNC:HGNC:29508
See related: Ensembl:ENSG00000134313 MIM:615759; AllianceGenome:HGNC:29508
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: ARMS; SINO; VENARG
Summary: This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression: Ubiquitous expression in brain (RPKM 28.9), ovary (RPKM 19.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.1

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (8721081..8837613, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (8744827..8861364, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (8861211..8977743, complement)

Chromosome 2 - NC_000002.12 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?

Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.
Title: Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.
Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer.
Title: Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer.
Reduced kinase Dinteracting substrate of 220 kDa (Kidins220) in pancreatic cancer promotes EGFR/ERK signalling and disease progression.
Title: Reduced kinase D‑interacting substrate of 220 kDa (Kidins220) in pancreatic cancer promotes EGFR/ERK signalling and disease progression.
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
Title: TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.
Title: Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.
Functional analysis of a novel fusion protein PAX5-KIDINS220 identified in a pediatric Ph-like ALL patient.
Title: Functional analysis of a novel fusion protein PAX5-KIDINS220 identified in a pediatric Ph-like ALL patient.
Study reveals a non-classical hereditary spastic paraplegia (HSP), intellectual disability, nystagmus, and obesity phenotype for a KIDINS220 nonsense mutation, which broadens both the clinical and genetic spectrum for autosomal dominant HSP.
Title: Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
Title: Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
data indicate that ARMS/Kidins220 controls the regulated secretion of BDNF and might play a crucial role in the pathogenesis of Huntington's disease
Title: Regulation of BDNF Release by ARMS/Kidins220 through Modulation of Synaptotagmin-IV Levels.
Kidins220 has a prominent role in tumor development by participating in a complex signaling pathways. (Review)
Title: Kidins220 and tumour development: Insights into a complexity of cross-talk among signalling pathways (Review).

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity MedGen: C4284592 OMIM: 617296 GeneReviews: Not available	not available
Ventriculomegaly and arthrogryposis MedGen: C5561973 OMIM: 619501 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Depletion of ARMS abrogates HIV-1 Tat-induced upregulation of CD40 expression in primary human microglia	PubMed
	tat	Depletion of ARMS inhibits HIV-1 Tat-induced NF-kappaB activation including IkappaBalpha degradation, RelA nuclear accumulation, and RelB expression	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-18247 (e-PCR)
- UniSTS:27687

D2S184E (e-PCR)
- UniSTS:45901

RH120895 (e-PCR)
- UniSTS:133729

RH64923 (e-PCR)
- UniSTS:86376

D2S184E (e-PCR)
- UniSTS:64691

D2S2504 (e-PCR)
- UniSTS:10737

D2S184E (e-PCR)
- UniSTS:147448

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to nerve growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in nerve growth factor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in nerve growth factor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in late endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	HDA more info	PubMed
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: kinase D-interacting substrate of 220 kDa

Names: ankyrin repeat-rich membrane-spanning protein; kinase D-interacting substrate 220kDa

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_053168.2 RefSeqGene

Range

5000..113755

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001348729.2 → NP_001335658.1 kinase D-interacting substrate of 220 kDa isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.

Source sequence(s)

AC012495

UniProtKB/TrEMBL

A0A8I5KT58

Conserved Domains (4) summary

cd00204
Location:32 → 191

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:441 → 954

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:338 → 389

Ank_4; Ankyrin repeats (many copies)
NM_001348731.2 → NP_001335660.1 kinase D-interacting substrate of 220 kDa isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC012495

UniProtKB/TrEMBL

A0A8I5KT58

Related

ENSP00000510148.1, ENST00000691030.1

Conserved Domains (4) summary

cd00204
Location:32 → 191

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:441 → 954

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:338 → 389

Ank_4; Ankyrin repeats (many copies)
NM_001348732.2 → NP_001335661.1 kinase D-interacting substrate of 220 kDa isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AC012495

Consensus CDS

CCDS86818.1

Related

ENSP00000418974.1, ENST00000473731.5

Conserved Domains (4) summary

cd00204
Location:32 → 190

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:440 → 953

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:337 → 388

Ank_4; Ankyrin repeats (many copies)
NM_001348734.2 → NP_001335663.1 kinase D-interacting substrate of 220 kDa isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.

Source sequence(s)

AC012495

UniProtKB/TrEMBL

A0A8I5KT58

Conserved Domains (4) summary

cd00204
Location:32 → 191

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:441 → 954

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:338 → 389

Ank_4; Ankyrin repeats (many copies)
NM_001348735.2 → NP_001335664.1 kinase D-interacting substrate of 220 kDa isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.

Source sequence(s)

AC012495

Conserved Domains (5) summary

PHA02736
Location:348 → 412

PHA02736; Viral ankyrin protein; Provisional

PHA02874
Location:49 → 377

PHA02874; ankyrin repeat protein; Provisional

pfam07693
Location:440 → 953

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:13 → 58

Ank_4; Ankyrin repeats (many copies)
NM_001348736.2 → NP_001335665.1 kinase D-interacting substrate of 220 kDa isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, lacks two alternate in-frame exons in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.

Source sequence(s)

AC012495

Consensus CDS

CCDS92711.1

Related

ENSP00000510510.1, ENST00000685097.1

Conserved Domains (5) summary

cd00204
Location:122 → 247

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:398 → 911

KAP_NTPase; KAP family P-loop domain

sd00045
Location:28 → 59

ANK; ANK repeat [structural motif]

pfam13637
Location:295 → 346

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:1 → 33

Ank_5; Ankyrin repeats (many copies)
NM_001348738.2 → NP_001335667.1 kinase D-interacting substrate of 220 kDa isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (8) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC011747, AC012495, AK094521

Related

ENSP00000510486.1, ENST00000693432.1

Conserved Domains (4) summary

cd00204
Location:32 → 190

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:440 → 953

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:337 → 388

Ank_4; Ankyrin repeats (many copies)
NM_001348739.2 → NP_001335668.1 kinase D-interacting substrate of 220 kDa isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (9) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (9) is shorter and has a distinct C-terminus, compared to isoform 1. Both variants 9 and 10 encode the same isoform (9).

Source sequence(s)

AC011747, AC012495, AK094521

UniProtKB/TrEMBL

E9PH70

Conserved Domains (4) summary

cd00204
Location:32 → 191

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:441 → 954

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:338 → 389

Ank_4; Ankyrin repeats (many copies)
NM_001348740.2 → NP_001335669.1 kinase D-interacting substrate of 220 kDa isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (10) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (10) is shorter and has a distinct C-terminus, compared to isoform 1. Both variants 9 and 10 encode the same isoform (9).

Source sequence(s)

AC011747, AC012495, AK094521

UniProtKB/TrEMBL

E9PH70

Related

ENSP00000419964.1, ENST00000489024.5

Conserved Domains (4) summary

cd00204
Location:32 → 191

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:441 → 954

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:338 → 389

Ank_4; Ankyrin repeats (many copies)
NM_001348741.2 → NP_001335670.1 kinase D-interacting substrate of 220 kDa isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (11) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (11) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 11-13 encode the same isoform (10).

Source sequence(s)

AC011747, AC012495, AK094521

Consensus CDS

CCDS92712.1

UniProtKB/TrEMBL

A0A8I5QJC0

Related

ENSP00000510537.1, ENST00000689852.1

Conserved Domains (4) summary

cd00204
Location:32 → 190

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:440 → 953

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:337 → 388

Ank_4; Ankyrin repeats (many copies)
NM_001348742.2 → NP_001335671.1 kinase D-interacting substrate of 220 kDa isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (12) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (12) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 11-13 encode the same isoform (10).

Source sequence(s)

AC011747, AC012495, AK094521

Consensus CDS

CCDS92712.1

UniProtKB/TrEMBL

A0A8I5QJC0

Related

ENSP00000509014.1, ENST00000693394.1

Conserved Domains (4) summary

cd00204
Location:32 → 190

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:440 → 953

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:337 → 388

Ank_4; Ankyrin repeats (many copies)
NM_001348743.2 → NP_001335672.1 kinase D-interacting substrate of 220 kDa isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (13) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (13) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 11-13 encode the same isoform (10).

Source sequence(s)

AC011747, AC012495, AK094521

Consensus CDS

CCDS92712.1

UniProtKB/TrEMBL

A0A8I5QJC0

Related

ENSP00000509856.1, ENST00000689369.1

Conserved Domains (4) summary

cd00204
Location:32 → 190

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:440 → 953

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:337 → 388

Ank_4; Ankyrin repeats (many copies)
NM_001348745.2 → NP_001335674.1 kinase D-interacting substrate of 220 kDa isoform 11

Status: REVIEWED

Description

Transcript Variant: This variant (14) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (11) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC012495, AL133620

Consensus CDS

CCDS86819.1

UniProtKB/TrEMBL

A0A8I5KTG3

Related

ENSP00000319947.5, ENST00000319688.5

Conserved Domains (5) summary

cd00204
Location:32 → 191

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:441 → 954

KAP_NTPase; KAP family P-loop domain

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

pfam13637
Location:338 → 389

Ank_4; Ankyrin repeats (many copies)

cl21455
Location:1010 → 1030

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_020738.4 → NP_065789.1 kinase D-interacting substrate of 220 kDa isoform 1

See identical proteins and their annotated locations for NP_065789.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC012495

Consensus CDS

CCDS42650.1

UniProtKB/Swiss-Prot

A1L4N4, Q4VC08, Q6MZU2, Q9H889, Q9H9E4, Q9NT37, Q9UF42, Q9ULH0

Related

ENSP00000256707.4, ENST00000256707.8

Conserved Domains (5) summary

cd00204
Location:32 → 190

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam07693
Location:440 → 953

KAP_NTPase; KAP family P-loop domain

pfam12796
Location:42 → 133

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:13 → 58

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:38 → 68

ANK; ANK repeat [structural motif]

RNA

NR_145964.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (15) uses an alternate splice site in the 5' region and an alternate exon structure in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011747, AC012495, AK094521
NR_145965.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (16) uses an alternate exon structure in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011747, AC012495, AK094521