GLMN - glomulin, FKBP associated protein Gene

Homo sapiens

Also known as FAP; GVM; GLML; FAP48; FAP68; FKBPAP; VMGLOM

Gene ID: 11146 | Gene type: protein coding

About GLMN

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:92,246,402-92,370,844 (from NCBI)

This gene has 6 transcripts (splice variants), 267 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.2), brain (RPKM 2.5) and 24 other tissues.

Summary

This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GLMN Products(2)

mRNA	Protein	Name
NM_001319683.2	NP_001306612.1	glomulin isoform 2
NM_053274.3	NP_444504.1	glomulin isoform 1

GLMN Protein Structure

Kinetochor_Ybp2

0
100
200
300
400
500
594 a.a.

Protein Preferred Names

Protein Names

glomulin

FK506-binding protein-associated protein

Related Diseases

Diseases

Alias

Glomuvenous Malformations

Glomuvenous Malformation	Venous Malformations With Glomus Cells
Vmglom	Glomus Tumors, Multiple
Glomangiomatosis	GVM
Glomangiomas, Multiple	Hereditary Multiple Glomangiomas
Multiple Glomus Tumors	GVMS
Malformations, Glomuvenous

Familial Glomangioma

Hereditary Glomangioma

Blue Rubber Bleb Nevus

Bean Syndrome	Blue Rubber Bleb Nevus Syndrome
Brbns	Brbn
Nevus, Blue Rubber Bleb

Glomangioma

Benign Perivascular Tumor

Benign Pericytic Neoplasm

Glomangiomyoma

Glomangiosarcoma

Malignant Glomus Neoplasm

Glomus Tumor, Malignant

Subungual Glomus Tumor

Subungual Glomus Tumour

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome	KTS
Ktw Syndrome	Angioosteohypertrophy Syndrome
Angio-Osteohypertrophy Syndrome	Klippel Trenaunay Syndrome
Klippel-Trénaunay-Weber Syndrome	Haemangiectatic Hypertrophy
Weber-Klippel-Trenaunay	Congenital Dysplastic Angiopathy
Klippel-Trenaunay Disease	Weber Klippel Trenaunay

Venous Malformations, Multiple Cutaneous And Mucosal

VMCM	Multiple Cutaneous And Mucosal Venous Malformations
Mucocutaneous Venous Malformations	Vmcm1
Cutaneous And Mucosal Venous Malformation	Dominantly Inherited Venous Malformations

Glomangiomatosis

Stork Bite

Salmon Patch Nevus

Unna'S Nevus

Hemangioma Of Subcutaneous Tissue

Angioma Of The Subcutaneous Tissue	Subcutaneous Haemangioma
Subcutaneous Hemangioma

Angioma Serpiginosum

Angioma Serpiginosum Of Skin

Angioma Serpiginosum, X-Linked

Cataract 14, Multiple Types

Cataract 14 Multiple Types	CTRCT14
Czp3	Cae3
Cataract, Zonular Pulverulent 3	Zonular Pulverulent Cataract 3
Cataract, Zonular Pulverulent-3	Cataract, Type 14, Multiple Types

Glomus Tumor

Glomus Neoplasm

Glomus Tumour

Bacterial Gastritis

Perivascular Tumor

Malignant Perivascular Cancer

Sturge-Weber Syndrome

SWS	Encephalotrigeminal Angiomatosis
Encephalofacial Angiomatosis	Sturge-Weber-Dimitri Syndrome
Sturge-Weber-Krabbe Syndrome	Fourth Phacomatosis
Leptomeningeal Angiomatosis	Meningeal Capillary Angiomatosis
Sturge-Weber-Krabbe Angiomatosis	Sturge-Weber Syndrome, Somatic, Mosaic
Sws Type I - Facial And Leptomeningeal Angiomas	Sws Type Ii - Facial Angioma Alone, No Cns Involvement
Sws Type Iii - Isolated Leptomeningeal Angiomas	Sturge Weber Syndrome
Angiomatosis Aculoorbital-Thalamic Syndrome	Encephalofacial Hemangiomatosis
Encephalofacial Hemangiomatosis Syndrome	Meningo-Oculo-Facial Angiomatosis
Meningofacial Angiomatosis-Cerebral Calcification Syndrome	Neuroretinoangiomatosis
Phakomatosis, Sturge-Weber	Weber-Sturge-Dimitri Syndrome

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pts Deficiency
HPABH4A	Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
Ptsd	Bh4-Deficient Hyperphenylalaninemia A
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency	Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
Hyperphenylalanemia, Bh4-Deficient, A	Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
6-Pyruvoyltetrahydropterin Synthase Deficiency	Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
Ptpsd	Hyperphenylalaninemia, Bh4-Deficient, Type A

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Yaws

Frambesia	Frambesia Tropica
Bouba	Frambosie
Polypapilloma Tropicum	Thymosis
Endemic Treponematoses	Treponema Pertenue Infection
Pian	Framboesia
Framboesia Tropica	Castellani
Infection By Treponema Pertenue	Parangi
Framboesioma	Chancre Of Yaws
Primary Framboesia	Initial Lesions Of Yaws
Mother Yaw	Initial Framboesia

Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

Cloves Syndrome	Clove Syndrome
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities	Clove Syndrome, Somatic
Nevus	Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome	Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome
CLOVE	Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities
Congenital Arteriovenous Malformation	Arteriovenous Hemangioma
Melanocytic Nevus	Benign Melanocytic Nevus

Spindle Cell Hemangioma

Sch	Spindle Cell Hemangioendothelioma

Proteus Syndrome

Proteus Syndrome, Somatic	Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome
Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly	Wiedemann'S Syndrome
Hemihypertrophy And Macrocephaly	Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly
Ps	PROTEUSS
Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Arteriovenous Malformation

Arteriovenous Malformations	Arteriovenous Hemangioma
Cirsoid Aneurysm	Racemose Aneurysm
Racemose Angioma	Racemose Hemangioma
Congenital Arteriovenous Malformation

Nevus, Epidermal

Epidermal Nevus	Woolly Hair Nevus
Epidermal Naevus	Epidermal Nevus Syndrome
Nevus, Keratinocytic, Nonepidermolytic	Epidermal Nevus, Somatic
Nevus, Epidermal, Somatic	Nevus Sebaceous Or Woolly Hair Nevus, Somatic
Nonepidermolytic Keratinocytic Nevus	Epidermal Hamartoma Syndrome
Wooly Hair Nevus	Keratinocytic Non-Epidermolytic Nevus
KNEN	Pigmented Moles
Organoid Nevus Phakomatosis	Nevus Sebaceous
Melanocytic Nevus	Melanocytic Nevus Of Skin

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05483	GLMN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GLMN	VGNC	VGNC:62582
Rattus norvegicus	GLMN	RGD	RGD:1588600
Canis familiaris	GLMN	VGNC	VGNC:41264
Mus musculus	GLMN	MGD	MGI:2141180
Macaca mulatta	GLMN	VGNC	VGNC:72941
Bos taurus	GLMN	VGNC	VGNC:29408