NECAP2 - NECAP endocytosis associated 2 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 55707

About NECAP2

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,440,724-16,460,078 (from NCBI)

This gene has 12 transcripts (splice variants), 208 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 34.8), spleen (RPKM 33.6) and 25 other tissues.

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]

NECAP2 Products (3)

mRNA Protein Name
NM_001145277.2 NP_001138749.1 adaptin ear-binding coat-associated protein 2 isoform 2
NM_001145278.2 NP_001138750.1 adaptin ear-binding coat-associated protein 2 isoform 3
NM_018090.5 NP_060560.1 adaptin ear-binding coat-associated protein 2 isoform 1
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NECAP2 Protein Structure

DUF1681

DUF1681: Protein of unknown function (DUF1681) (6 - 163)

  • 0
  • 100
  • 200
  • 263 a.a.
Protein Preferred Names Protein Names

adaptin ear-binding coat-associated protein 2

  • adaptin-ear-binding coat-associated protein 2

NECAP2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
NECAP2 Q9NVZ3 AP2B1 Homo sapiens P63010 33961781
Intra
NECAP2 Q9NVZ3 AP2B1 Homo sapiens P63010 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NECAP2 Proteins

製品番号 製品名 アクセッション番号 純度
HY-P70922 NECAP2 Protein, Human (His) Q9NVZ3 (M1-F263) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
Lissencephaly 8
  • LIS8

Congenital Anomalies Of Kidney And Urinary Tract 1
  • CAKUT1

  • Renal Hypodysplasia, Nonsyndromic, 1

  • Rhdns1

  • Congenital Anomalies Of The Kidney And Urinary Tract 1

  • Non-Syndromic Renal Hypodysplasia 1

  • Kidney And Urinary Tract, Anomalies, Congenital, Susceptibility To, Type 1

Spinocerebellar Ataxia, Autosomal Recessive 24
  • SCAR24

  • Autosomal Recessive Spinocerebellar Ataxia 24

  • Spinocerebellar Ataxia, Autosomal Recessive, 24

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Schuurs-Hoeijmakers Syndrome
  • SHMS

  • Pacs1-Related Syndrome

  • Mrd17

  • Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

  • Intellectual Developmental Disorder, Autosomal Dominant 17

  • Autosomal Dominant Intellectual Disability-17

  • Autosomal Dominant Mental Retardation 17

  • Pacs1 Syndrome

  • Mental Retardation, Autosomal Dominant 17

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Bos taurus NECAP2 VGNC VGNC:31981
Rattus norvegicus NECAP2 RGD RGD:735063
Canis familiaris NECAP2 VGNC VGNC:43717
Macaca mulatta NECAP2 VGNC VGNC:75255
Mus musculus NECAP2 MGD MGI:1913397
Others NECAP2 NCBI