1. Gene
  2. PLXND1 - plexin D1 Gene

PLXND1 - plexin D1 Gene

Homo sapiens

Also known as PLEXD1

Gene ID: 23129 | Gene type: protein coding

About PLXND1

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:129,555,214-129,606,676 (from NCBI)

This gene has 17 transcripts (splice variants), 191 orthologues, 8 paralogues and is associated with 4 phenotypes. Broad expression in placenta (RPKM 37.7), fat (RPKM 32.1) and 23 other tissues.

Summary

Enables protein domain specific binding activity. Predicted to be involved in several processes, including endothelial cell migration; nervous system development; and regulation of angiogenesis. Predicted to act upstream of or within several processes, including circulatory system development; dichotomous subdivision of terminal units involved in salivary gland branching; and positive regulation of protein binding activity. Located in lamellipodium. [provided by Alliance of Genome Resources, Apr 2022]

PLXND1 Products(1)

mRNA Protein Name
NM_015103.3 NP_055918.3 plexin-D1 precursor

PLXND1 Protein Structure

Sema

Sema: Sema domain (63 - 155)

Sema

Sema: Sema domain (279 - 521)

PSI

PSI: Plexin repeat (549 - 601)

PSI

PSI: Plexin repeat (702 - 753)

TIG

TIG: IPT/TIG domain (891 - 976)

TIG

TIG: IPT/TIG domain (981 - 1063)

TIG

TIG: IPT/TIG domain (1069 - 1143)

Plexin_cytopl

Plexin_cytopl: Plexin cytoplasmic RasGAP domain (1344 - 1888)

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  • 1925 a.a.
Protein Preferred Names Protein Names

plexin-D1

Related Diseases

Diseases Alias
Moebius Syndrome

Mobius Syndrome

Moebius Sequence

Oromandibular-Limb Hypogenesis Spectrum

Congenital Facial Diplegia

MBS

Moebius Congenital Oculofacial Paralysis

Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

Congenital Facial Diplegia Syndrome

Congenital Oculofacial Paralysis

Congenital Ophthalmoplegia And Facial Paresis

Moebius Spectrum

Möbius Sequence

Möbius Syndrome

Mobius Ii Syndrome

Conotruncal Heart Malformations

Persistent Truncus Arteriosus

Conotruncal Anomaly Face Syndrome

Truncus Arteriosus

Common Arterial Trunk

CTHM

Conotruncal Heart Malformations, Variable

Tac

Truncus Arteriosus Communis

Conotruncal Cardiac Defects

Common Aorticopulmonary Trunk

Cafs

Conotruncal Heart Defects

Cthd

Dorv

Double-Outlet Right Ventricle

Pta

Heart Malformations, Conotruncal

Common Truncus

Common Truncus Arteriosus

Persistent Truncus Arteriosus Or Communis

Truncus Communis

Common Aortico-Pulmonary Trunk

Truncus Arteriosus With Aortic Dominance

Truncus Arteriosus With No Aortic Obstruction

Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch

Truncus Arteriosus With Interrupted Aortic Arch

Common Arterial Trunk With Interrupted Aortic Arch

Van Praagh Truncus Arteriosus Type A4

Carey-Fineman-Ziter Syndrome 1

Carey-Fineman-Ziter Syndrome

CFZS

Congenital Nonprogressive Myopathy With Moebius And Robin Sequences

Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence

Cfz Syndrome

Carey Fineman Ziter Syndrome

Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences

Myopathy-Moebius-Robin Syndrome

CFZS1

Moebius Sequence, Robin Complex, And Hypotonia

Congenital Non-Progressive Myopathy With Moebius And Robin Sequences

Spinocerebellar Ataxia 44

SCA44

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

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

Species Symbol Source ID
Rattus norvegicus PLXND1 RGD RGD:1310796
Macaca mulatta PLXND1 VGNC VGNC:76191
Bos taurus PLXND1 VGNC VGNC:33065
Canis familiaris PLXND1 VGNC VGNC:44726
Mus musculus PLXND1 MGD MGI:2154244
Felis catus PLXND1 VGNC VGNC:80659