NECAP2 NECAP endocytosis associated 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NECAP2provided by HGNC
Official Full Name: NECAP endocytosis associated 2provided by HGNC
Primary source: HGNC:HGNC:25528
See related: Ensembl:ENSG00000157191 MIM:611624; AllianceGenome:HGNC:25528
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
Summary: This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Expression: Ubiquitous expression in lymph node (RPKM 34.8), spleen (RPKM 33.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (16440724..16460078)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (15882405..15901764)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (16767219..16786573)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NECAP2 does not regulate the clathrin-mediated endocytosis of these cargos, the degradation of EGFR or the recycling of transferrin along the slow, Rab11-dependent recycling pathway. We show that protein knockdown of NECAP2 leads to enlarged early endosomes and causes the loss of the clathrin adapter AP-1 from the organelle.
Title: NECAP2 controls clathrin coat recruitment to early endosomes for fast endocytic recycling.
Describes identification and characterization of rat NECAP1 and NECAP2 and their roles in endocytosis.
Title: Identification of a family of endocytic proteins that define a new alpha-adaptin ear-binding motif.

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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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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH103552 (e-PCR)
- UniSTS:97877

D1S1399 (e-PCR)
- UniSTS:149595

SHGC-74267 (e-PCR)
- UniSTS:46449

FLJ10420 (e-PCR)
- UniSTS:278392

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of clathrin vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
part_of clathrin vesicle coat	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated pit	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: adaptin ear-binding coat-associated protein 2

Names: adaptin-ear-binding coat-associated protein 2

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_047165.1 RefSeqGene

Range

5053..24407

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145277.2 → NP_001138749.1 adaptin ear-binding coat-associated protein 2 isoform 2

See identical proteins and their annotated locations for NP_001138749.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region compared to variant 1 that causes a frameshift. The resulting protein (isoform 2) has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK023545, BC018914, BM751287, BQ005870

Consensus CDS

CCDS44066.1

UniProtKB/TrEMBL

Q53FE5

Related

ENSP00000391942.2, ENST00000443980.6

Conserved Domains (1) summary

pfam07933
Location:6 → 162

DUF1681; Protein of unknown function (DUF1681)
NM_001145278.2 → NP_001138750.1 adaptin ear-binding coat-associated protein 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1.

Source sequence(s)

AK302227, BC018914, BM751287, BQ005870

Consensus CDS

CCDS44067.1

UniProtKB/TrEMBL

Q53FE5

Related

ENSP00000407091.2, ENST00000457722.6

Conserved Domains (2) summary

PRK14965
Location:143 → 217

PRK14965; DNA polymerase III subunits gamma and tau; Provisional

pfam07933
Location:6 → 136

DUF1681; Protein of unknown function (DUF1681)
NM_018090.5 → NP_060560.1 adaptin ear-binding coat-associated protein 2 isoform 1

See identical proteins and their annotated locations for NP_060560.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.

Source sequence(s)

BC018914, BM751287, BQ005870

Consensus CDS

CCDS173.1

UniProtKB/Swiss-Prot

B4DY19, E9PGQ8, Q5VSU4, Q5VSU5, Q9H7L1, Q9H8L1, Q9NVZ3

UniProtKB/TrEMBL

Q53FE5

Related

ENSP00000338746.5, ENST00000337132.10

Conserved Domains (2) summary

pfam07933
Location:6 → 162

DUF1681; Protein of unknown function (DUF1681)

cl26247
Location:169 → 243

DNA_pol3_delta2; DNA polymerase III, delta subunit

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

16440724..16460078

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424715.1 → XP_047280671.1 adaptin ear-binding coat-associated protein 2 isoform X2

UniProtKB/TrEMBL

B4DUR7, F6SKB8

Related

ENSP00000421335.1, ENST00000459640.5
XM_047424713.1 → XP_047280669.1 adaptin ear-binding coat-associated protein 2 isoform X1

Reference GRCh38.p14 PATCHES

Genomic

NW_025791756.1 Reference GRCh38.p14 PATCHES

Range

244989..264343

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332815.1 → XP_054188790.1 adaptin ear-binding coat-associated protein 2 isoform X2

UniProtKB/TrEMBL

B4DUR7, F6SKB8
XM_054332814.1 → XP_054188789.1 adaptin ear-binding coat-associated protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

15882405..15901764

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337566.1 → XP_054193541.1 adaptin ear-binding coat-associated protein 2 isoform X2

UniProtKB/TrEMBL

B4DUR7, F6SKB8
XM_054337565.1 → XP_054193540.1 adaptin ear-binding coat-associated protein 2 isoform X1