1. Gene
  2. CARD9 - caspase recruitment domain family member 9 Gene

CARD9 - caspase recruitment domain family member 9 Gene

Homo sapiens

Also known as CANDF2; IMD103; hCARD9

Gene ID: 64170 | Gene type: protein coding

About CARD9

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,363,956-136,373,669 (from NCBI)

This gene has 11 transcripts (splice variants), 188 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 5.8), spleen (RPKM 4.7) and 19 other tissues.

Summary

The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the Caspase family, and thus plays an important regulatory role in cell Apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of Apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]

CARD9 Products(2)

mRNA Protein Name
NM_052813.5 NP_434700.2 caspase recruitment domain-containing protein 9 isoform 1
NM_052814.4 NP_434701.1 caspase recruitment domain-containing protein 9 isoform 2

CARD9 Protein Structure

CARD

CARD: Caspase recruitment domain (11 - 96)

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  • 536 a.a.
Protein Preferred Names Protein Names

caspase recruitment domain-containing protein 9

Related Diseases

Diseases Alias
Immunodeficiency 103 Fungal Infections

Predisposition To Invasive Fungal Disease Due To Card9 Deficiency

Candidiasis, Familial, 2

CANDF2

Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive

Card9 Immunodeficiency

Familial Chronic Mucocutaneous Candidiasis

Invasive Candidiasis-Deep Dermatophytosis Syndrome

IMD103

Immunodeficiency 103, Susceptibility To Fungal Infections

Immunodeficiency 103, Susceptibility To Fungal Infection

Immunodeficiency 103 Fungal Infection

Autosomal Recessive Candidiasis Familial Chronic Mucocutaneous

Card9 Deficiency

Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive

Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive

Candidiasis, Familial, Type 2

Candidiasis

Systemic Candidiasis

Invasive Candidiasis

Disseminated Candidiasis

Systemic Candida Infections

Candidiasis, Invasive

Phaeohyphomycosis

Infection By Dematiacious Fungi

Phaehyphomycosis

Phaeomycosis

Pheohyphomycosis

Infection By Dematiacious Fungi [Phaehyphomycosis]

Dematiaceous Fungal Infection

Endophthalmitis
Sporotrichosis

Rose Gardener'S Disease

Meningoencephalitis

Acquired Toxoplasmal Meningoencephalitis

Meningoencephalitis Due To Acquired Toxoplasmosis

Meningoencephalitis Due To Toxoplasmosis

Toxoplasma Meningoencephalitis

Dermatophytosis

Tinea

Dermatophytosis, Unspecified

Ringworm

Infections Due To Species Of Epidermophyton, Microsporum And Trichophyton

Cutaneous Mycosis

Dermal Mycosis

Superficial Mycosis, Unspecified

Fungus Infection Of Skin

Skin Mycosis

Dermatitis Fungoid

Fungal Dermatitis

Fungal Dermatosis

Mycotic Infection Of Skin

Tinea Profunda

Deep Seated Dermatophytosis

Granuloma Trichophyticum

Majocchi'S Granuloma

Tinea Corporis

Dermatophytosis Of The Body

Dermatophytosis Of The Trunk

Cutaneous Candidiasis

Candidiasis, Cutaneous

Fungal Infectious Disease

Mycoses

Mycosis

Tinea Cruris

Dermatophytosis Of Groin & Perianal Area

Dermatophytosis Of Groin And Perianal Area

Dhobie Itch

Tinea Of Perianal Region

Subcutaneous Mycosis

Subcutaneous Fungal Disease

Tinea Barbae

Dermatophytosis Of Beard

Primary Systemic Mycosis
Opportunistic Mycosis

Opportunistic Mycoses

Opportunistic Systemic Mycoses

Tinea Capitis

Dermatophytosis Of Scalp

Scalp Ringworm

Dermatophytosis Of Scalp Or Beard

Tinea Capitis Due To Trichophyton Rubrum

Trichophyton Rubrum Tinea Capitis

Tinea Pedis

Athlete'S Foot

Dermatophytosis Of Foot

Ringworm Of Foot

Moccasin Foot

Vulvovaginal Candidiasis

Candidiasis Of Vulva And Vagina

Candidiasis, Vulvovaginal

Candidal Vulvovaginitis

Candidal: Cervix

Monilial Vulvovaginitis

Candidiasis Vulvovaginal

Nail Disease

Nail Diseases

Abnormality Of The Nail

Nail Anomaly

Tinea Unguium

Dermatophytosis Of Nail

Onychomycosis Due To Dermatophyte

Cellulitis And Abscess

Cellulitis And Abscess Of Buttock

Cellulitis And Abscess Of Face

Cellulitis And Abscess Of Finger

Cellulitis And Abscess Of Finger And Toe

Cellulitis And Abscess Of Gluteal Region

Cellulitis And Abscess Of Trunk

Cellulitis And Abscess Of Upper Arm And Forearm

Dermatophytic Onychia

Dermatophytic Onychomycosis

Onychomycosis

Ringworm Of Nails

Tinea Of Nail

Dermatomycosis

Dermatomycoses

Immunodeficiency 11b With Atopic Dermatitis

IMD11B

Atopic Dermatitis, Elevated Ige, And Eosinophilia

Immunodeficiency 11b

Tinea Manuum

Tinea Manus

Dermatophytosis Of Hand

Superficial Mycosis

Piedra

Steroid-Modified Tinea Infection

Tinea Imbricata

Kerion Celsi

Trichophyton Infection

Tinea Imbricata, Susceptibility To

Susceptibility To Tinea Imbricata

Tinea Capitis Profunda

Trichophytia Profunda Barbae

Trichophytia Profunda Capitis

Tinea Capitis

Chromoblastomycosis

Chromomycosis

Mossy Foot Disease

Verrucous Dermatitis

Fonseca Disease

Pedroso Disease

Drechslera Hawaiiensis

Drechslera Infection

Trichosporonosis
Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Penicilliosis
Autoimmune Polyendocrine Syndrome

Autoimmune Polyendocrinopathy

Autoimmune Polyglandular Failure

Autoimmune Polyglandular Syndrome

Polyendocrinopathies, Autoimmune

Lloyd'S Syndrome

Aps

Polyendocrinopathies Autoimmune

Polyendocrine Autoimmunity Syndrome

Lloyd Syndrome

Polyglandular Autoimmune Deficiency

Progressive Pluriglandular Insufficiency

Pluriglandular Autoimmune Atrophy

Pluriglandular Autoimmune Syndrome

Thyroid-Adrenocortical Insufficiency Syndrome

Pityriasis Versicolor

Tinea Versicolor

Infection By Pityrosporum Furfur

Invasive Aspergillosis

Aspergillosis Invasive

Autoimmune Polyendocrine Syndrome Type 1

Whitaker Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome I

Polyglandular Type I Autoimmune Syndrome

Blastomycosis

Gilchrist'S Disease

North American Blastomycosis

Blastomyces Dermatitidis Infection

Blastomycotic Infection

Infection By Blastomyces Dermatitidis

Gilchrist Disease

Chicago Disease

Chicago Disease Or Disorder

Blastomycosis, Unspecified

Blastomyces Infection

Coccidioidomycosis

Valley Fever

Primary Extrapulmonary Coccidioidomycosis

Coccidioides Immitis Infection

Coccidiosis

Coccidioides Infection

Coccidioidomycosis, Unspecified

San Joaquin Fever

California Disease

Desert Fever

Desert Rheumatism

San Joaquin Valley Fever

Enteric Coccidiosis

Primary Pulmonary Coccidioidomycosis

Acute Coccidioidomycosis

Posadas Wernicke Disease

Vaginal Disease

Vaginal Diseases

Hyper Ige Recurrent Infection Syndrome 1

Job Syndrome

Hyper-Ige Recurrent Infection Syndrome 1

Hyperimmunoglobulin E Syndrome

Job'S Syndrome

Recurring Cold Staphylococcal Abscesses

Ige Syndromes

Buckley Syndrome

Hie - [Hyperimmunoglobulin E] Syndrome

Job-Buckley Syndrome

Quie-Hill Syndrome

Oral Candidiasis

Thrush

Candidiasis Of Mouth

Oral Moniliasis

Thrush, Oral

Candidiasis, Oral

Oral Thrush

Candidiasis

Equine Thrush

Immunodeficiency 11

Immunodeficiency 11a

Severe Combined Immunodeficiency Due To Card11 Deficiency

IMD11A

Imd11

Card11 Immunodeficiency

Scid Due To Card11 Deficiency

Card11 Deficiency

Immunodeficiency 11 A

Immunodeficiency 29

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12b Deficiency

IMD29

Il12b Deficiency

Immunodeficiency 29, Mycobacteriosis

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interleukin 12b Deficiency

Msmd Due To Complete Il12b Deficiency

Msmd Due To Complete Interleukin 12b Deficiency

Immunodeficiency, Type 29, Mycobacteriosis

Esophageal Candidiasis

Candidiasis Of The Esophagus

Candida Esophagitis

Candidal Esophagitis

Esophageal Moniliasis

Esophageal Thrush

Mucormycosis

Zygomycosis

Disseminated Mucormycosis

Absidia Infection

Absidia Mucoromycosis

Cunninghamella Infection

Cunninghamella Mucoromycosis

Infection By Absidia Spp

Infection By Rhizopus Spp

Mucor Infection

Mucor Mucoromycosis

Infection By Mucor Spp

Rhizopus Infection

Rhizopus Mucoromycosis

Infection By Cunninghamella Spp

Phycomycosis Nos

Cryptococcosis

Cryptococcus Neoformans Infection

Torulosis

Busse-Buschke'S Disease

Cryptococcal Infection

European Cryptococcosis

Torula

Infection By Cryptococcus Neoformans

Cryptococcosis Infection

European Blastomycosis

European Blastomycotic Infection

European Blastomycoses Infection

Torula Histolytica Infection

Adenoiditis

Chronic Adenoiditis

Eumycotic Mycetoma

Eumycetoma

Maduromycosis

Mycetoma

Madura Foot

Maduromycosis, Mycotic

Mycotic Mycetoma

Mycetoma Of Foot

Eumycotic Maduromycosis

Mycetoma Due To Fungal Infection

Fungal Meningitis

Meningitis, Fungal

Mycotic Meningitis

Allergic Bronchopulmonary Aspergillosis

Aspergillosis, Allergic Bronchopulmonary

Abpa

Allergic Bronchopulmonary Mycosis

Hinson-Pepys Disease

Pulmonary Aspergillus Disease

Allergic Aspergillosis

Aspergillosis Allergic Bronchopulmonary

Hyper Ige Syndrome

Hyper-Ige Syndrome

Hyper Immunoglobulin E Syndrome

Hies

Hyper-Ige Recurrent Infection Syndrome

Hyperimmunoglobulin E Syndrome

Hyper Ige

Job Syndrome

Hartnup Disease

Immunodeficiency 27b

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

IMD27B

Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant

Ifngr1 Deficiency, Autosomal Dominant

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Dominant Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Dominant Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27b, Mycobacteriosis, Ad

Autosomal Dominant Ifngr1 Deficiency

Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis

Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant

Pneumocystosis

Pneumocystis Jirovecii Pneumonia

Pneumocystis Carinii Pneumonia

Pneumocystis Pneumonia

Pulmonary Pneumocystosis

PCP

Pneumocystosis Pneumonia

Pneumonia Pneumocystis Carinii

Pneumonia, Pneumocystis

Pneumocystis Jiroveci Pneumonia

Immunodeficiency 27a

IMD27A

Autosomal Recessive Ifngr1 Deficiency

Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive

Ifngr1 Deficiency, Autosomal Recessive

Immunodeficiency 27a, Mycobacteriosis, Ar

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency

Familial Disseminated Atypical Mycobacterial Infection

Interferon Gamma, Receptor 1, Deficiency

Immunodeficiency, Type 27a, Mycobacteriosis, Ar

Mycobacterial Disease, Mendelian Susceptibility To

Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1

IBD1

Crohn Disease-Associated Growth Failure

Crohn Disease

Regional Enteritis

Ulcerative Colitis

Crohn Disease-Associated Growth Failure, Susceptibility To

Inflammatory Bowel Disease 1, Crohn Disease

Bowel Disease, Inflammatory, Type 1

Crohn'S Disease

Crohn Disease

Pediatric Crohn'S Disease

Regional Enteritis

Crohn'S Disease Of Large Bowel

Granulomatous Colitis

Enteritis, Granulomatous

Enteritis

Crohn'S Disease Of Colon

Colitis, Granulomatous

Crohn'S Enteritis

Enteritis, Regional

Ileitis

Adenoviral Enteritis

Acute Gastroenteropathy Due To Norwalk Agent

Viral Gastroenteritis Due To Norwalk Agent

Winter Vomiting

Epidemic Winter Vomiting Disease

Small Round Structured Virus Enteritis

Epidemic Vomiting Syndrome

Epidemic Vomiting

Epidemic Nausea

Epidemic Viral Gastroenteritis Due To Norwalk Virus

Noroviral Enteritis

Crohn Disease Nos

Crohns

Cd - [Crohn'S Disease]

Regional Enteritis Of Bowel

Crohn'S Regional Enteritis

Cobble-Stone Appearance Of Intestine

Intestinal Ulcer And Erosion Due To Crohn Disease

Granulomatous Enteritis

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
Canis familiaris CARD9 VGNC VGNC:38718
Rattus norvegicus CARD9 RGD RGD:708370
Macaca mulatta CARD9 VGNC VGNC:70567
Mus musculus CARD9 MGD MGI:2685628
Bos taurus CARD9 VGNC VGNC:26764