2. Gene
  3. EFNB1 - ephrin B1 Gene

EFNB1 - ephrin B1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肝配蛋白 B1

种属: Homo sapiens

同用名: CFND; CFNS; EFB1; EFL3; EPLG2; Elk-L; LERK2

基因 ID: 1947 | 基因类型: protein coding

关于 EFNB1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:68,829,021-68,842,160 (from NCBI)

This gene has 1 transcript (splice variant), 234 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 27.2), placenta (RPKM 17.2) and 23 other tissues.

功能概要

该基因编码的蛋白质是 I 型膜蛋白和 Eph 相关受体酪氨酸激酶的配体。它可能在神经系统发育或维持的细胞粘附和功能中发挥作用。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related Receptor Tyrosine Kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]

EFNB1 基因产物(1)

mRNA Protein Name
NM_004429.5 NP_004420.1 ephrin-B1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ephrin receptor binding IDA
IDA: 通过直接分析推断
23711177 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9883737 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of positive effect regulation of autophagosome assembly IDA
IDA: 通过直接分析推断
33280498 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cell surface IDA
IDA: 通过直接分析推断
12970314 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

EFNB1 蛋白结构

Ephrin

Ephrin: Ephrin (29 - 166)

  • 0
  • 100
  • 200
  • 300
  • 346 a.a.
蛋白主名 其他名称

ephrin-B1

ELK ligand

重组 EFNB1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70402 Ephrin-B1/EFNB1 Protein, Human (HEK293, His) P98172 (L28-G232) ≥95%
HY-P73026 Ephrin-B1/EFNB1 Protein, Human (HEK293, His-Fc) P98172 (L28-K237) ≥95%
HY-P700609 Ephrin-B1/EFNB1 Protein, Human (HEK293, C-hFc) NP_004420.1 (L28-K237) ≥95%

关联疾病

疾病名称 别名
Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia

CFNS

Cfnd

Craniofrontonasal Dysostosis

Craniofrontonasal Dystosis

Dysplasia, Craniofrontonasal
Hemifacial Hyperplasia

Hemifacial Hypertrophy

Facial Asymmetry

Facial Hemihypertrophy

Asymmetric Face
Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive
Synostosis
Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis
Non-Syndromic X-Linked Intellectual Disability 81

Mrx81
Myasthenic Syndrome, Congenital, 19

Congenital Myasthenic Syndrome 19

CMS19

Myasthenic Syndrome, Congenital, Type 19
Muenke Syndrome

Muenke Nonsyndromic Coronal Craniosynostosis

Fgfr3-Related Craniosynostosis

Fgfr3-Associated Coronal Synostosis

Coronal Craniosynostosis

MNKES

Syndrome Of Coronal Craniosynostosis

MNKS

Fgfr3-Related Isolated Coronal Synostosis

Muenke Non-Syndromic Coronal Craniosynostosis
Crouzon Syndrome

Crouzon Craniofacial Dysostosis

Craniofacial Dysostosis

Cfd1

Craniofacial Dysostosis Type 1

Crouzon Disease

Crouzon'S Disease

Craniofacial Dysostosis, Type I

Craniofacial Dysarthrosis

Craniofacial Dysostosis Syndrome

CS

Craniofacial Dysostosis Type I

Vogt Cephalosyndactyly
Jackson-Weiss Syndrome

JWS

Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
Exposure Keratitis

Exposure Keratoconjunctivitis

Lagophthalmic Keratitis
Apert Syndrome

Acrocephalosyndactyly Type I

Acs1

Acrocephalosyndactylia

Acrocephalosyndactyly

Acs I

Apert-Crouzon Disease

Acrocephalosyndactyly Type 1

Acrocephalosyndactyly, Type I

Acs 1

Acrocephalo-Syndactyly Type 1

Syndactylic Oxycephaly

Apert'S Syndrome

Type I Acrocephalosyndactyly

APRS
Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome
Beare-Stevenson Cutis Gyrata Syndrome

Cutis Gyrata Syndrome Of Beare And Stevenson

Beare-Stevenson Syndrome

BSTVS

Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome

Beare Stevenson Syndrome

Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis

Cutis Gyrata Syndrome Of Beare-Stevenson
Diaphragm Disease

Abnormality Of The Diaphragm

Disease Of Diaphragm

Diaphragmatic Disorder

Disorder Of Diaphragm
Dysostosis

Dysostoses
Bone Development Disease
Pfeiffer Syndrome

Infectious Mononucleosis

Acs5

Craniofacial-Skeletal-Dermatologic Dysplasia

Acs V

Noack Syndrome

Gammaherpesviral Mononucleosis

Acrocephalosyndactyly Type 5

Pfeiffer Syndrome Type 3

Acrocephalosyndactyly, Type V

Glandular Fever

Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome Type 2

Acrocephalosyndactylia Type V

Filatov'S Disease

Monocytic Angina

Mononucleosis

Pfeiffer'S Disease

Acsv

Acrocephalosyndactyly, Type 5

Craniofacial-Skeletal-Dermatologic Syndrome

Pfeiffer Syndrome Type 1

Classic Pfeiffer Syndrome

PS

Pfeiffer Syndrome Variant

Dysplasia, Craniofacial-Skeletal-Dermatologic

Pfeiffer

Kissing Disease

Infectious Adenitis

Pfeiffer Disease
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect
Orofacial Cleft

Cleft, Orofacial
Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04197 EFNB1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus EFNB1 RGD RGD:2540
Mus musculus EFNB1 MGD MGI:102708
Macaca mulatta EFNB1 VGNC VGNC:72169
Bos taurus EFNB1 VGNC VGNC:28359
Felis catus EFNB1 VGNC VGNC:61749
Canis familiaris EFNB1 VGNC VGNC:40228
Others EFNB1 NCBI
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